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
RP1	6101	broad.mit.edu	37	8	55539467	55539467	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:55539467G>A	ENST00000220676.1	+	4	3173	c.3025G>A	c.(3025-3027)Gtt>Att	p.V1009I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1009					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGAGACACAGGTTGGATCTCT	0.383000													146	227					0	0	1	0	0
TTC13	79573	broad.mit.edu	37	1	231076203	231076203	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:231076203G>A	ENST00000366661.4	-	7	779	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	TTC13_ENST00000414259.1_Silent_p.L205L|TTC13_ENST00000366662.4_Silent_p.L205L	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	258							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ATGAAGTACAGGGTTCCCCGA	0.433000													40	60					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174889	63174889	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:63174889C>T	ENST00000322893.7	-	11	2572	c.2304G>A	c.(2302-2304)gtG>gtA	p.V768V	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	768					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)		CACTGGTTTTCACATAGGCCA	0.507000													29	66					0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26581669	26581669	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:26581669C>T	ENST00000252992.4	+	4	347	c.216C>T	c.(214-216)tgC>tgT	p.C72C	CEP85_ENST00000451429.2_Silent_p.C21C	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	72						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						CAGATTTTTGCAGCTCAAGTG	0.478000													7	868					0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140250747	140250747	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:140250747G>A	ENST00000340951.4	-	8	925	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L	EXD3_ENST00000342129.4_5'UTR	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	244					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CGCTCCTGCAGACGCAAGACC	0.652000													8	16					0	0	1	0	0
PTPN11	5781	broad.mit.edu	37	12	112926248	112926248	+	Splice_Site	SNP	G	G	A	rs121918468		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:112926248G>A	ENST00000351677.2	+	12	1579	c.1379_splice	c.e12-1	p.A461_splice		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	465	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TGCCCGCAGTGCTGGAATTGG	0.453000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				118	60					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142626200	142626200	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:142626200G>A	ENST00000265310.1	-	5	851	c.503C>T	c.(502-504)tCc>tTc	p.S168F	TRPV5_ENST00000442623.1_Missense_Mutation_p.S168F	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	168					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GGCAGCAAAGGACAAAGGGTG	0.602000													17	49					0	0	1	0	0
PLD4	122618	broad.mit.edu	37	14	105396430	105396430	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:105396430G>A	ENST00000540372.1	+	6	918	c.726G>A	c.(724-726)cgG>cgA	p.R242R	PLD4_ENST00000392593.4_Silent_p.R235R			Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	235					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	TGGACTGGCGGTCTCTGACGC	0.602000													30	60					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525669	248525669	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:248525669G>A	ENST00000366475.1	+	1	787	c.787G>A	c.(787-789)Gca>Aca	p.A263T		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGAACTCAGCAGAGGGCCG	0.532000													80	140					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33549437	33549437	+	Missense_Mutation	SNP	C	C	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:33549437C>G	ENST00000504830.1	-	21	4512	c.4177G>C	c.(4177-4179)Gac>Cac	p.D1393H	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D1308H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1393	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCCCGGCTGTCCACGCACTGA	0.567000										HNSCC(64;0.19)			95	165					0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4945475	4945475	+	Missense_Mutation	SNP	G	G	A	rs142377582		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:4945475G>A	ENST00000321961.2	-	1	162	c.95C>T	c.(94-96)cCc>cTc	p.P32L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAGCAGAAGGGAATAGAGAT	0.463000													49	97					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45996229	45996229	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:45996229C>T	ENST00000348697.2	+	20	2162	c.2015C>T	c.(2014-2016)gCc>gTc	p.A672V	FBLN1_ENST00000327858.6_Missense_Mutation_p.A672V			P23142	FBLN1_HUMAN	fibulin 1	672					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCATTTCATGCCGTCCTGAAG	0.572000													7	581					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163045629	163045629	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:163045629G>A	ENST00000188790.4	-	19	1810	c.1603C>T	c.(1603-1605)Ccc>Tcc	p.P535S	FAP_ENST00000443424.1_Missense_Mutation_p.P510S	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	535					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ATTAGCAAGGGATACTTCTTT	0.299000													36	77					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274180	103274180	+	Silent	SNP	C	C	T	rs143241362	byFrequency	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:103274180C>T	ENST00000233969.2	+	2	589	c.447C>T	c.(445-447)atC>atT	p.I149I		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	149						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCCCACCCATCGTGCTGGATG	0.468000													162	303					0	0	1	0	0
OR1B1	347169	broad.mit.edu	37	9	125391067	125391067	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:125391067G>A	ENST00000304833.3	-	1	785	c.748C>T	c.(748-750)Cac>Tac	p.H250Y	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						ATGGTGAGGTGGGATCCACAG	0.532000													42	95					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79769642	79769642	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:79769642G>A	ENST00000372371.3	-	13	1887	c.1750C>T	c.(1750-1752)Cca>Tca	p.P584S		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	584					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GTAGGCGGTGGGAGGCGAACT	0.483000													46	80					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10351982	10351982	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:10351982G>A	ENST00000255381.2	-	32	4594	c.4484C>T	c.(4483-4485)tCc>tTc	p.S1495F	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1495					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATGATCCAGGGATTCCTCGTA	0.438000													79	142					0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6683763	6683763	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:6683763G>A	ENST00000321535.4	+	2	706	c.576G>A	c.(574-576)gaG>gaA	p.E192E		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	192										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TGAGGAATGAGAATGTGATCT	0.498000													46	71					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62598785	62598785	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:62598785G>A	ENST00000512091.1	+	7	1455	c.708G>A	c.(706-708)agG>agA	p.R236R	LPHN3_ENST00000509896.1_Silent_p.R304R|LPHN3_ENST00000504896.1_Silent_p.R236R|LPHN3_ENST00000508946.1_Silent_p.R236R|LPHN3_ENST00000507625.1_Silent_p.R304R|LPHN3_ENST00000506746.1_Silent_p.R304R|LPHN3_ENST00000514157.1_Silent_p.R236R|LPHN3_ENST00000506720.1_Silent_p.R304R|LPHN3_ENST00000506700.1_Silent_p.R236R|LPHN3_ENST00000508693.1_Silent_p.R304R|LPHN3_ENST00000511324.1_Silent_p.R304R|LPHN3_ENST00000507164.1_Silent_p.R304R|LPHN3_ENST00000545650.1_Silent_p.R236R|LPHN3_ENST00000514996.1_Silent_p.R236R|LPHN3_ENST00000514591.1_Silent_p.R236R			Q9HAR2	LPHN3_HUMAN	latrophilin 3	236	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGCGGACTAGGATAAAGAGTG	0.458000													21	49					0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57246872	57246872	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:57246872T>A	ENST00000607273.1	+	7	686	c.599T>A	c.(598-600)gTc>gAc	p.V200D	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	200					DNA replication, synthesis of RNA primer|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GGAAGGAAAGTCTATTTGGAA	0.403000													20	63					0	0	1	0	0
TREM1	54210	broad.mit.edu	37	6	41250250	41250250	+	Missense_Mutation	SNP	G	G	A	rs144672509		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:41250250G>A	ENST00000591620.1	-	2	315	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	TREM1_ENST00000334475.6_Missense_Mutation_p.R97C|TREM1_ENST00000244709.4_Missense_Mutation_p.R97C|TREM1_ENST00000589614.1_Missense_Mutation_p.R97C	NM_001242589.1	NP_001229518.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	97	Ig-like V-type.		R -> S (in a breast cancer sample; somatic mutation).		blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity	p.R97S(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	ATTCGGACGCGCAGTAAACCA	0.517000													4	123					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156917706	156917706	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:156917706G>A	ENST00000368194.3	-	25	3235	c.2196C>T	c.(2194-2196)ctC>ctT	p.L732L	ARHGEF11_ENST00000361409.2_Silent_p.L692L|ARHGEF11_ENST00000315174.8_Silent_p.L108L	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	692					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGTGGGGAAGGAGGGTATCTG	0.552000													15	36					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40102431	40102431	+	Silent	SNP	G	G	A	rs145734382	by1000genomes	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:40102431G>A	ENST00000181839.4	+	8	3212	c.2607G>A	c.(2605-2607)ccG>ccA	p.P869P	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Silent_p.P869P	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	869	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TTAGTCGGCCGTATACTAACA	0.388000													8	1115					0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137775168	137775168	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:137775168C>T	ENST00000350339.2	+	2	135	c.121C>T	c.(121-123)Cct>Tct	p.P41S	FCN2_ENST00000291744.6_Missense_Mutation_p.P79S	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	79					complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CCCCCCTGGACCTCCTGGGAA	0.612000													50	106					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3344764	3344764	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:3344764C>T	ENST00000336727.3	+	3	2886	c.1982C>T	c.(1981-1983)tCc>tTc	p.S661F	RGS12_ENST00000382788.3_Missense_Mutation_p.S661F|RGS12_ENST00000306648.7_Missense_Mutation_p.S59F|RGS12_ENST00000543385.1_Missense_Mutation_p.S661F|RGS12_ENST00000344733.5_Missense_Mutation_p.S661F	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	661						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATCACTCGCTCCCTTGATGAT	0.428000													28	25					0	0	1	0	0
UBE4A	9354	broad.mit.edu	37	11	118235847	118235847	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:118235847C>T	ENST00000252108.3	+	2	183	c.52C>T	c.(52-54)Ctt>Ttt	p.L18F	UBE4A_ENST00000431736.2_Missense_Mutation_p.L18F	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	18					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CTTTGCTGCTCTTTTTGGCTC	0.463000													33	21					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256320	140256320	+	Silent	SNP	T	T	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:140256320T>C	ENST00000398631.2	+	1	1263	c.1263T>C	c.(1261-1263)taT>taC	p.Y421Y	PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCGGCCTATGAGCTGGTGG	0.622000													145	343					0	0	1	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661236	113661236	+	RNA	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:113661236G>A	ENST00000393544.2	+	0	1284																											GCTGTGGATGGGTTAGGCAGT	0.522000													34	24					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106555057	106555057	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:106555057G>A	ENST00000369096.4	+	7	2408	c.2174G>A	c.(2173-2175)cGa>cAa	p.R725Q	PRDM1_ENST00000369091.2_Missense_Mutation_p.R689Q|PRDM1_ENST00000369089.3_Missense_Mutation_p.R591Q	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	725					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GATCTGACCCGAATCAATGAA	0.532000			"""D, N, Mis, F, S"""		DLBCL								178	431					0	0	1	0	0
NSUN5	55695	broad.mit.edu	37	7	72718281	72718281	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:72718281G>A	ENST00000428206.1	-	7	779	c.766C>T	c.(766-768)Cca>Tca	p.P256S	NSUN5_ENST00000438747.2_Missense_Mutation_p.P294S|NSUN5_ENST00000252594.6_Missense_Mutation_p.P294S|NSUN5_ENST00000310326.8_Missense_Mutation_p.P294S	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	294							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TGGTAGCGTGGATCCGAGGGG	0.642000													63	47					0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42145664	42145664	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:42145664C>A	ENST00000502486.1	-	3	1414	c.835G>T	c.(835-837)Gtg>Ttg	p.V279L	BEND4_ENST00000504360.1_Missense_Mutation_p.V275L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	279										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						AGAGGATCCACGTCGGCCAGA	0.522000													15	45					6.31663e-08	6.38633e-08	1	1	0
OR5AC2	81050	broad.mit.edu	37	3	97806033	97806033	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:97806033G>A	ENST00000358642.2	+	1	17	c.17G>A	c.(16-18)gGa>gAa	p.G6E		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATATCAGAGGGAAATAAGACT	0.373000													77	179					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20673164	20673164	+	Missense_Mutation	SNP	C	C	A	rs145893961		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:20673164C>A	ENST00000307493.4	-	6	1011	c.944G>T	c.(943-945)tGg>tTg	p.W315L	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.W315L	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	315					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGATACCCCCCAAAAGTGGTT	0.363000													38	78					6.4771e-29	6.61242e-29	1	1	0
GSN	2934	broad.mit.edu	37	9	124062285	124062285	+	Splice_Site	SNP	T	T	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:124062285T>G	ENST00000373818.4	+	1	213		c.e1+2		GSN_ENST00000394353.2_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000436847.1_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gaggcgcgggtgagtgcccgg	0.697000													14	62					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137726973	137726973	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:137726973C>T	ENST00000371817.3	+	65	5707	c.5293C>T	c.(5293-5295)Cgc>Tgc	p.R1765C		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1765	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAAGGCCCTCCGCTTCCTGGG	0.657000													32	57					0	0	1	0	0
NUTM2F	54754	broad.mit.edu	37	9	97081981	97081981	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:97081981C>T	ENST00000335456.7	-	7	1374	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	NUTM2F_ENST00000253262.4_Missense_Mutation_p.E467K|NUTM2F_ENST00000341207.4_Missense_Mutation_p.E452K					NUT family member 2F																		AGCAATTCTTCCAGGAATCGG	0.577000													113	186					0	0	1	0	0
IGHM	3507	broad.mit.edu	37	14	106320606	106320606	+	RNA	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:106320606C>T	ENST00000390559.2	-	0	1203																											CATTCCTCTTCGGACACGGTC	0.652000													22	42					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846205	47846205	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:47846205C>T	ENST00000339488.4	-	3	2408	c.2375G>A	c.(2374-2376)gGg>gAg	p.G792E		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	792						integral to membrane	hedgehog receptor activity										TGTGCAACCCCCAGTGAGCAG	0.428000													35	65					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68074065	68074065	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:68074065C>T	ENST00000262210.5	+	20	2574	c.2543C>T	c.(2542-2544)cCt>cTt	p.P848L	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.P503L	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	883	Glu-rich.					centrosome|microtubule|spindle				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)			CAGCCTTCTCCTATAGTTCCT	0.368000													79	165					0	0	1	0	0
ABCE1	6059	broad.mit.edu	37	4	146029233	146029233	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:146029233C>T	ENST00000296577.4	+	4	771	c.256C>T	c.(256-258)Cga>Tga	p.R86*	ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	86	ABC transporter 1.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					AACCACACATCGATATTGTGC	0.333000													33	84					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49598157	49598157	+	RNA	SNP	G	G	T	rs149610491	by1000genomes	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:49598157G>T	ENST00000527477.1	+	0	761																											TCATTTCTTCGGAAGAGGAAG	0.532000													9	34					3.27435e-08	3.31506e-08	1	1	0
TGOLN2	10618	broad.mit.edu	37	2	85554423	85554423	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:85554423C>T	ENST00000377386.3	-	2	894	c.432G>A	c.(430-432)gcG>gcA	p.A144A	TGOLN2_ENST00000398263.2_Silent_p.A144A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Silent_p.A144A|TGOLN2_ENST00000409015.1_Silent_p.A144A|TGOLN2_ENST00000409232.3_Silent_p.A144A			O43493	TGON2_HUMAN	trans-golgi network protein 2	144	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										CTGGGGTCTGCGCCTCCGCAC	0.582000													10	1329					0	0	1	0	0
OR4F15	390649	broad.mit.edu	37	15	102359053	102359053	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:102359053C>T	ENST00000332238.4	+	1	688	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L222M(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CATCTTCATTCTGTTCACTGT	0.468000													77	159					0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4719065	4719065	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:4719065C>T	ENST00000263088.6	+	14	1422	c.1291C>T	c.(1291-1293)Cgt>Tgt	p.R431C	PLD2_ENST00000572940.1_Missense_Mutation_p.R431C	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	431					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CCAGGTGATGCGTCACCCAGA	0.567000											OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	113					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140746158	140746158	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:140746158C>T	ENST00000518069.1	+	1	2261	c.2261C>T	c.(2260-2262)tCc>tTc	p.S754F	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACCTATTCCCACGAGGTC	0.597000													103	221					0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77763385	77763385	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:77763385T>C	ENST00000344720.5	+	4	1505	c.479T>C	c.(478-480)aTa>aCa	p.I160T	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Missense_Mutation_p.I186T	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	186					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						ATTGCCAAGATAATTACAACT	0.363000													6	174					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18846126	18846126	+	RNA	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:18846126G>A	ENST00000412938.1	+	0	3484																											ACTGGCGCACGATGTAGGGCA	0.617000													4	66					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24843936	24843936	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:24843936G>A	ENST00000313367.2	-	22	3016	c.2565C>T	c.(2563-2565)ttC>ttT	p.F855F	OSBPL3_ENST00000396429.1_Silent_p.F819F|OSBPL3_ENST00000409069.1_Silent_p.F788F|OSBPL3_ENST00000353930.1_Silent_p.F819F|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000396431.1_Silent_p.F824F|OSBPL3_ENST00000352860.1_Silent_p.F824F|OSBPL3_ENST00000431825.2_Silent_p.F788F	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	855					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						GCACGAACCTGAAAAACCGAG	0.463000													96	175					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151105670	151105670	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:151105670G>A	ENST00000341697.3	-	19	3774	c.2083C>T	c.(2083-2085)Ctg>Ttg	p.L695L				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	695						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			AGGCAGGCCAGCTCCGGCGGG	0.746000													8	37					0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52735302	52735302	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:52735302C>T	ENST00000306051.2	+	1	872	c.770C>T	c.(769-771)cCc>cTc	p.P257L	PTGDR_ENST00000553372.1_Missense_Mutation_p.P257L	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	257						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TCCCCTCAGCCCCTGGAGGAG	0.677000													123	210					0	0	1	0	0
OTX1	5013	broad.mit.edu	37	2	63283274	63283274	+	Silent	SNP	T	T	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:63283274T>C	ENST00000366671.3	+	5	1164	c.888T>C	c.(886-888)caT>caC	p.H296H	OTX1_ENST00000282549.2_Silent_p.H296H	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	296	His-rich.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					accaccaccatcaccaccacc	0.642000													6	131					0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15890695	15890695	+	RNA	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:15890695C>T	ENST00000587443.2	-	0	102					NR_033864.1																						GCCCGAGGCCCAGCCAGGACA	0.672000													19	37					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48646242	48646242	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:48646242G>A	ENST00000352832.5	+	2	626	c.254G>A	c.(253-255)cGc>cAc	p.R85H	CACNA1G_ENST00000358244.5_Missense_Mutation_p.R85H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R85H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R85H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R85H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R85H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R85H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R85H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R85H|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R85H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R85H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R85H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R85H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R85H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R85H|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R85H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R85H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R85H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R85H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R85H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R85H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R85H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R85H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R85H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R85H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R85H	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	85					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGTTTGAGCGCATCAGCATG	0.627000													4	102					0	0	1	0	0
STAC2	342667	broad.mit.edu	37	17	37369299	37369299	+	Silent	SNP	T	T	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:37369299T>C	ENST00000333461.5	-	10	1449	c.1080A>G	c.(1078-1080)caA>caG	p.Q360Q		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	360					intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CGGAGAAGGGTTGGCAGCAGC	0.607000													49	112					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32774874	32774874	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:32774874G>A	ENST00000265074.8	+	4	1463	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	NPR3_ENST00000415167.2_Missense_Mutation_p.E374K|NPR3_ENST00000434067.2_Missense_Mutation_p.E158K|NPR3_ENST00000415685.2_Missense_Mutation_p.E158K	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	374					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GGCTCTACATGAAGTACTCAG	0.433000													101	238					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227946867	227946867	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:227946867C>A	ENST00000396625.3	-	23	1867	c.1660G>T	c.(1660-1662)Ggg>Tgg	p.G554W	COL4A4_ENST00000329662.7_Missense_Mutation_p.G554W	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	554	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCTTCGCCCCTTTGTTGCCA	0.423000													76	177					1.42479e-40	1.4627e-40	1	1	0
EMR1	2015	broad.mit.edu	37	19	6924748	6924748	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:6924748C>T	ENST00000312053.4	+	15	1888	c.1851C>T	c.(1849-1851)ctC>ctT	p.L617L	EMR1_ENST00000450315.3_Silent_p.L440L|EMR1_ENST00000381404.4_Silent_p.L565L|EMR1_ENST00000381407.5_Silent_p.L476L|EMR1_ENST00000250572.8_Intron	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	617					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGGTGTGCCTCGTCTTGGCCA	0.512000													34	61					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48703495	48703495	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:48703495G>A	ENST00000316623.5	-	66	8763	c.8308C>T	c.(8308-8310)Cac>Tac	p.H2770Y	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2770					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTACTGACGTGGGAAATATTG	0.433000													80	152					0	0	1	0	0
METTL13	51603	broad.mit.edu	37	1	171759716	171759716	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:171759716C>T	ENST00000361735.3	+	5	1700	c.1434C>T	c.(1432-1434)atC>atT	p.I478I	METTL13_ENST00000367737.5_Silent_p.I322I|METTL13_ENST00000362019.3_Silent_p.I392I|METTL13_ENST00000466643.1_Intron|METTL13_ENST00000458517.1_Silent_p.I477I	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	478							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						AAGCCATGATCGCTGGCCTTG	0.542000													57	124					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26942089	26942089	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:26942089C>T	ENST00000528896.2	-	39	6775	c.6701G>A	c.(6700-6702)cGc>cAc	p.R2234H	KIAA0100_ENST00000389003.3_Missense_Mutation_p.R2091H|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R2091H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2234						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AAATCATTTGCGCCTGCCAAA	0.562000													7	821					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132052117	132052117	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:132052117G>A	ENST00000286355.5	-	1	2555	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S	ADCY8_ENST00000377928.3_Missense_Mutation_p.P155S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	155					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CGCAGGGTGGGGAAAATGACC	0.562000										HNSCC(32;0.087)			23	48					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321071	52321071	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:52321071G>A	ENST00000356297.4	-	17	3213	c.3113C>T	c.(3112-3114)cCc>cTc	p.P1038L	PXDNL_ENST00000543296.1_Missense_Mutation_p.P1038L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1038					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATTCACGTTGGGGTTGTAGCC	0.527000													15	30					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	69008046	69008046	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:69008046C>T	ENST00000261778.1	+	15	2829	c.2817C>T	c.(2815-2817)gtC>gtT	p.V939V		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		TCGGGGAAGTCCTTATGCGAA	0.468000													21	55					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230915968	230915968	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:230915968G>A	ENST00000354537.1	+	9	1162	c.1080G>A	c.(1078-1080)gaG>gaA	p.E360E	CAPN9_ENST00000366666.2_Silent_p.E323E|RP11-99J16__A.2_ENST00000412344.1_RNA|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000271971.2_Silent_p.E386E|RP11-99J16__A.2_ENST00000428480.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	386	Domain III.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CTCTGACTGAGAAAGATGAGG	0.423000													34	72					0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6866924	6866924	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:6866924G>A	ENST00000299454.4	+	1	42	c.11G>A	c.(10-12)gGa>gAa	p.G4E	OR10A5_ENST00000379831.2_Missense_Mutation_p.G8E			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGGCTATAGGAAACTGGACA	0.383000													99	329					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592947	38592947	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:38592947C>T	ENST00000413689.1	-	28	5109	c.4916G>A	c.(4915-4917)gGg>gAg	p.G1639E	SCN5A_ENST00000414099.2_Missense_Mutation_p.G1621E|SCN5A_ENST00000455624.2_Missense_Mutation_p.G1606E|SCN5A_ENST00000451551.2_Missense_Mutation_p.G1585E|SCN5A_ENST00000333535.4_Missense_Mutation_p.G1639E|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1585E|SCN5A_ENST00000449557.2_Missense_Mutation_p.G1585E|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1638E|SCN5A_ENST00000423572.2_Missense_Mutation_p.G1638E|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1621E	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1639					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCCCTTGGCCCCTCGGATCAG	0.587000													81	140					0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15115166	15115166	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:15115166G>A	ENST00000378217.3	+	9	1082	c.895G>A	c.(895-897)Gag>Aag	p.E299K	OLAH_ENST00000378228.3_Missense_Mutation_p.E246K|OLAH_ENST00000485251.1_3'UTR	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	246					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	p.E299K(1)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TCCTGCGAACGAGAAATTAAT	0.328000													22	53					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	62941448	62941448	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:62941448T>C	ENST00000251157.5	-	45	5891	c.5858A>G	c.(5857-5859)aAg>aGg	p.K1953R	DOCK7_ENST00000489185.1_5'UTR|DOCK7_ENST00000340370.5_Missense_Mutation_p.K1933R	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1964	DHR-2.				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			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						CAGAATGGTCTTCCTTTTGAA	0.388000													86	129					0	0	1	0	0
TMEM168	64418	broad.mit.edu	37	7	112423843	112423843	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:112423843G>A	ENST00000312814.5	-	2	1598	c.1038C>T	c.(1036-1038)tcC>tcT	p.S346S	TMEM168_ENST00000454074.1_Silent_p.S346S	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	346						integral to membrane|transport vesicle		p.S346S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GCATCCCTTTGGATGCCATGA	0.393000													236	230					0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83360657	83360657	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:83360657G>A	ENST00000296591.5	-	8	1232	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C	EDIL3_ENST00000380138.3_Missense_Mutation_p.R262C|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	272	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		ATGTTTCCACGAAACACCTGT	0.338000													49	83					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9316310	9316310	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:9316310G>A	ENST00000261336.2	-	21	2718	c.2690C>T	c.(2689-2691)cCt>cTt	p.P897L	PZP_ENST00000381997.2_Intron|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTTAATCTCAGGGACCTCAAC	0.428000													46	87					0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57484943	57484943	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:57484943T>C	ENST00000300131.3	+	2	497	c.119T>C	c.(118-120)cTg>cCg	p.L40P	NAB2_ENST00000357680.4_Missense_Mutation_p.L40P|NAB2_ENST00000554718.1_Intron|NAB2_ENST00000342556.6_Missense_Mutation_p.L40P	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	40	NCD1.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CCTCGGACGCTGGGGGAGCTG	0.637000													70	141					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													7	45					0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125281422	125281422	+	Translation_Start_Site	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:125281422G>A	ENST00000340750.1	+	1	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CTGTCAGCATGAAGAGGGAGA	0.478000													50	100					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3242157	3242157	+	Silent	SNP	C	C	T	rs144210017		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:3242157C>T	ENST00000217939.6	-	5	1723	c.1569G>A	c.(1567-1569)gcG>gcA	p.A523A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	523	Ig-like C2-type 1.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CATCCATGGGCGCTTTCAGGA	0.542000													35	23					0	0	1	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131541	142131541	+	RNA	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:142131541C>T	ENST00000390375.2	-	0	254																											TGTCTCTCTTCCTCCTCATAA	0.522000													107	95					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197062343	197062343	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:197062343C>T	ENST00000367409.4	-	21	9389	c.9133G>A	c.(9133-9135)Gga>Aga	p.G3045R	ASPM_ENST00000294732.7_Missense_Mutation_p.G1460R|ASPM_ENST00000367408.1_Missense_Mutation_p.G710R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3045	IQ 36.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACCTGCCTTCCTTTATATCCT	0.358000													59	130					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39052033	39052033	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:39052033G>A	ENST00000355481.4	+	89	12679	c.12548G>A	c.(12547-12549)cGc>cAc	p.R4183H	RYR1_ENST00000360985.3_Missense_Mutation_p.R4183H|RYR1_ENST00000359596.3_Missense_Mutation_p.R4188H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4188					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			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)	GCGTCACGCCGCATCGAGCGC	0.652000													4	159					0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170028093	170028093	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:170028093G>A	ENST00000284637.9	-	11	2744	c.2403C>T	c.(2401-2403)tcC>tcT	p.S801S		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	801						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CGGAGTCCAGGGAACTTGCCT	0.612000													76	132					0	0	1	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135263667	135263667	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:135263667G>A	ENST00000265605.2	-	3	390	c.322C>T	c.(322-324)Ccc>Tcc	p.P108S	ALDH8A1_ENST00000367847.2_Missense_Mutation_p.P108S|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.P108S	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	108					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		ACAGACCGGGGAATGTCCATG	0.522000													33	69					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3732062	3732062	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:3732062G>A	ENST00000378230.3	-	22	3006	c.2682C>T	c.(2680-2682)gcC>gcT	p.A894A		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	894						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GGCCTGATGCGGCCACAGCTG	0.637000													18	37					0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42145665	42145665	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:42145665G>A	ENST00000502486.1	-	3	1413	c.834C>T	c.(832-834)gaC>gaT	p.D278D	BEND4_ENST00000504360.1_Silent_p.D274D	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	278										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GAGGATCCACGTCGGCCAGAT	0.522000													16	46					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072321	9072321	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:9072321G>A	ENST00000397910.4	-	3	15328	c.15125C>T	c.(15124-15126)tCc>tTc	p.S5042F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5044	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						GGACAGAAAGGAAGAGGGGGA	0.478000													29	75					0	0	1	0	0
CHCHD3	54927	broad.mit.edu	37	7	132481269	132481269	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:132481269G>A	ENST00000262570.5	-	7	738	c.594C>T	c.(592-594)acC>acT	p.T198T	CHCHD3_ENST00000476546.1_5'UTR|CHCHD3_ENST00000448878.1_Silent_p.T203T	NM_017812.2	NP_060282.1	Q9NX63	CHCH3_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	198	CHCH.				inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						GGGTCTGGTGGGTGTTCTCAC	0.542000													34	101					0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12089857	12089857	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:12089857C>T	ENST00000235332.4	+	7	920	c.751C>T	c.(751-753)Ccg>Tcg	p.P251S	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Missense_Mutation_p.P251S	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	251	Interaction with IGFBP2.									autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GCGCCTGTTCCCGGTGCCTGT	0.687000													15	35					0	0	1	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238458	71238458	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:71238458C>T	ENST00000398536.4	+	1	146	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	38	7 X 4 AA repeats of C-C-X-P.					keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						CTGCTGTGTGCCCGTCTGCTG	0.682000													6	557					0	0	1	0	0
KIAA0930	23313	broad.mit.edu	37	22	45593792	45593792	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:45593792G>A	ENST00000336156.4	-	9	1118	c.1053C>T	c.(1051-1053)tcC>tcT	p.S351S	KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000251993.7_Silent_p.S356S|KIAA0930_ENST00000443310.3_Silent_p.S333S|KIAA0930_ENST00000391627.2_Silent_p.S317S	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	351							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TGCCCGACAGGGACCGAGACC	0.607000													35	114					0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876505	74876505	+	Splice_Site	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:74876505C>T	ENST00000331628.3	-	2	191		c.e2-1		SYNDIG1L_ENST00000554823.1_5'UTR	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like						response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						TCCTCAGAGCCTGTCAGAAGA	0.602000													14	34					0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55860065	55860065	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:55860065G>A	ENST00000422046.2	-	3	681	c.400C>T	c.(400-402)Ccg>Tcg	p.P134S	CES1_ENST00000361503.4_Missense_Mutation_p.P134S|CES1_ENST00000360526.3_Missense_Mutation_p.P135S|CES1_ENST00000566555.1_5'UTR			P23141	EST1_HUMAN	carboxylesterase 1	134					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CAACTTACCGGCAGCCTGTTT	0.512000													6	583					0	0	1	0	0
SPRR1B	6699	broad.mit.edu	37	1	153005005	153005005	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:153005005C>T	ENST00000307098.4	+	2	249	c.184C>T	c.(184-186)Cca>Tca	p.P62S	SPRR1B_ENST00000392661.3_Intron	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	62	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.C41_P64delCHPKVPEPCHPKVPEPCQPKVPEP(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	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)			GCCCAAGGTTCCAGAGCCATG	0.617000													95	214					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30946900	30946900	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:30946900C>T	ENST00000597505.1	-	21	2952	c.2953G>A	c.(2953-2955)Ggg>Agg	p.G985R	DCDC1_ENST00000339794.5_Missense_Mutation_p.G64R|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	220					intracellular signal transduction			p.G64R(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATTTCCTTCCCCTTTTCATTG	0.353000													110	172					0	0	1	0	0
FAM109B	150368	broad.mit.edu	37	22	42473393	42473393	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:42473393C>T	ENST00000321753.3	+	3	283	c.96C>T	c.(94-96)acC>acT	p.T32T		NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	32	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						GCCCAGGGACCCCACCGACCC	0.647000													98	170					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								16	98					0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537395	5537395	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:5537395C>T	ENST00000380184.1	-	1	540	c.277G>A	c.(277-279)Ggc>Agc	p.G93S	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	93	Ubiquitin-like.									endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		ATGGTGTGGCCATCCATGATG	0.547000													48	103					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39961117	39961117	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:39961117C>T	ENST00000599117.1	+	19	1998	c.1631C>T	c.(1630-1632)cCc>cTc	p.P544L	SUPT5H_ENST00000432763.2_Missense_Mutation_p.P544L|SUPT5H_ENST00000598725.1_Missense_Mutation_p.P544L|SUPT5H_ENST00000359191.6_Missense_Mutation_p.P540L|SUPT5H_ENST00000402194.2_Missense_Mutation_p.P540L			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	544					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGCTGGATCCCCAGACTGTG	0.607000													146	293					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43601920	43601920	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:43601920G>A	ENST00000355710.3	+	5	1196	c.964G>A	c.(964-966)Gac>Aac	p.D322N	RET_ENST00000340058.5_Missense_Mutation_p.D322N	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	322					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GCTCCCCGGGGACACCTGGGC	0.652000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				16	34					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32975413	32975413	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:32975413C>T	ENST00000340811.4	-	8	1935	c.1827G>A	c.(1825-1827)agG>agA	p.R609R	PKP2_ENST00000070846.6_Silent_p.R653R	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	653					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTTTTACTTTCCTGCTTCGAC	0.378000													41	75					0	0	1	0	0
PGM2L1	283209	broad.mit.edu	37	11	74085522	74085522	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:74085522G>A	ENST00000298198.4	-	2	528	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	73					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					ATGGCAGAACGAAGTCCTGCA	0.413000													36	63					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	69299374	69299374	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:69299374G>A	ENST00000433211.1	-	4	520	c.346C>T	c.(346-348)Cca>Tca	p.P116S	CTNNA3_ENST00000373744.4_Missense_Mutation_p.P116S|CTNNA3_ENST00000545309.1_Missense_Mutation_p.P116S	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	116					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCCCTTTTTGGGAGAAAACAG	0.458000													51	80					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55533835	55533835	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:55533835C>T	ENST00000220676.1	+	2	457	c.309C>T	c.(307-309)tcC>tcT	p.S103S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	103	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACGGCGAGTCCTACCTATGTT	0.662000													77	135					0	0	1	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125231381	125231381	+	RNA	SNP	T	T	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:125231381T>C	ENST00000439075.1	-	0	3364					NR_026876.1																						GGAACTAAAATACATGGTTGG	0.294000													14	13					0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180634258	180634258	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:180634258C>T	ENST00000410066.1	-	3	828	c.225G>A	c.(223-225)caG>caA	p.Q75Q		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	75						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TGGGGCTGGCCTGGGCGGGTG	0.612000													29	74					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79782555	79782555	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:79782555C>T	ENST00000335016.5	+	9	1166	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	BMP2K_ENST00000502871.1_Missense_Mutation_p.P334S	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	334						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TTCTTCTATTCCTTCAGCTCT	0.338000													11	21					0	0	1	0	0
NR2F2	7026	broad.mit.edu	37	15	96877421	96877421	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:96877421C>T	ENST00000394166.3	+	2	1948	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	NR2F2_ENST00000421109.2_Missense_Mutation_p.R54C|NR2F2_ENST00000394171.2_Missense_Mutation_p.R34C|NR2F2_ENST00000453270.2_Missense_Mutation_p.R34C	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	187	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CCTGCTGTTGCGCGCGGAGCC	0.617000													6	574					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55223885	55223885	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:55223885G>A	ENST00000340465.2	+	6	987	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	301						integral to membrane	receptor activity			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)			ACAAAGTGAGGAATCTTTGTG	0.378000													49	86					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117188861	117188861	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:117188861C>T	ENST00000003084.6	+	10	1508	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	CFTR_ENST00000454343.1_Intron	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	459	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GTTGCTGGATCCACTGGAGCA	0.393000									Cystic Fibrosis				21	14					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16006353	16006353	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:16006353G>A	ENST00000221700.5	-	3	401	c.306C>T	c.(304-306)tgC>tgT	p.C102C	CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	102					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.C102C(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCGGGGTGGCACAAACTGA	0.597000													6	454					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169637340	169637340	+	Silent	SNP	C	C	T	rs151002058		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:169637340C>T	ENST00000428432.2	+	3	443	c.54C>T	c.(52-54)atC>atT	p.I18I	SAMD7_ENST00000335556.3_Silent_p.I18I	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	18										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)			TCCCACTGATCCCCTCACCAT	0.428000													62	91					0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895366	24895366	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr13:24895366G>A	ENST00000382071.2	+	4	547	c.462G>A	c.(460-462)atG>atA	p.M154I	AL359736.1_ENST00000422229.2_Silent_p.P67P|C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.M154I			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	154	Collagen-like 2.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CGGGCCCCATGGGCCCTATTG	0.627000													22	11					0	0	1	0	0
LALBA	3906	broad.mit.edu	37	12	48962322	48962322	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:48962322C>T	ENST00000549817.1	-	3	391	c.346G>A	c.(346-348)Gat>Aat	p.D116N	LALBA_ENST00000301046.2_Missense_Mutation_p.D116N			P00709	LALBA_HUMAN	lactalbumin, alpha-	116					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						CCTTTAATATCCAGGATCTTC	0.433000													28	88					0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53747113	53747113	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:53747113G>A	ENST00000333952.4	-	4	218	c.53C>T	c.(52-54)tCt>tTt	p.S18F	ZNF677_ENST00000594681.1_Missense_Mutation_p.S18F|ZNF677_ENST00000601413.1_Missense_Mutation_p.S18F|ZNF677_ENST00000601828.1_Missense_Mutation_p.S18F|ZNF677_ENST00000599012.1_Missense_Mutation_p.S18F|ZNF677_ENST00000598806.1_Missense_Mutation_p.S18F|ZNF677_ENST00000598513.1_Missense_Mutation_p.S18F			Q86XU0	ZN677_HUMAN	zinc finger protein 677	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CTCCTCTTGAGAGAATTCTAT	0.458000													39	113					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179452749	179452749	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:179452749C>T	ENST00000589042.1	-	305	63609	c.63385G>A	c.(63385-63387)Gaa>Aaa	p.E21129K	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E19488K|TTN_ENST00000460472.2_Missense_Mutation_p.E12064K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12256K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12189K|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18561K|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19488	Fibronectin type-III 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGTGAATTCCTTGCGTACA	0.473000													31	41					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46660483	46660483	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:46660483G>A	ENST00000544460.1	+	1	4872	c.4618G>A	c.(4618-4620)Gat>Aat	p.D1540N	TDRD6_ENST00000316081.6_Missense_Mutation_p.D1540N	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1540					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCAGTTTGCTGATACGGAGAA	0.393000													11	186					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56363518	56363518	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:56363518G>A	ENST00000301295.6	+	2	494	c.72G>A	c.(70-72)agG>agA	p.R24R	NLRP4_ENST00000346986.5_Silent_p.R24R	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	24	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGGAGTTCAGGAAATTTAAAG	0.438000													75	162					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47956394	47956394	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:47956394G>A	ENST00000426837.2	-	9	2050	c.1963C>T	c.(1963-1965)Ccg>Tcg	p.P655S	MAP4_ENST00000395734.3_Missense_Mutation_p.P638S|MAP4_ENST00000360240.6_Missense_Mutation_p.P638S|MAP4_ENST00000383737.4_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	638					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TCCTCGGCCGGCAAGCTGCAC	0.448000													6	337					0	0	1	0	0
SIRPB2	284759	broad.mit.edu	37	20	1460428	1460428	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:1460428C>T	ENST00000359801.3	-	2	404	c.368G>A	c.(367-369)gGa>gAa	p.G123E	SIRPB2_ENST00000381630.1_Intron|SIRPB2_ENST00000537284.1_5'UTR|SIRPB2_ENST00000444444.1_Intron	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	123	Ig-like V-type 1.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTGGTAGGTTCCAGTGTGCTC	0.488000													81	136					0	0	1	0	0
RIN2	54453	broad.mit.edu	37	20	19955587	19955587	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:19955587C>T	ENST00000255006.6	+	8	1214	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S	RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	306					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GGACTCGGTCCCCCCCACCCA	0.612000													55	72					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21526111	21526111	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:21526111G>A	ENST00000313654.9	+	70	9455	c.9214G>A	c.(9214-9216)Gtg>Atg	p.V3072M	LAMA3_ENST00000587184.1_Missense_Mutation_p.V1407M|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.V1463M|LAMA3_ENST00000399516.3_Missense_Mutation_p.V3016M	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3072	Laminin G-like 4.				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)	TCTGAAGGTGGTGTTTGGCCA	0.433000													54	171					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1616927	1616927	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:1616927C>T	ENST00000381580.1	-	3	735	c.556G>A	c.(556-558)Gac>Aac	p.D186N	SIRPG_ENST00000303415.3_Missense_Mutation_p.D219N|SIRPG_ENST00000381583.2_Missense_Mutation_p.D219N|SIRPG_ENST00000216927.4_Missense_Mutation_p.D219N|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	219	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GAGCGAACGTCCCAGGGGTCC	0.612000													60	98					0	0	1	0	0
FBXO22	26263	broad.mit.edu	37	15	76196934	76196934	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:76196934G>A	ENST00000308275.3	+	2	348	c.243G>A	c.(241-243)ggG>ggA	p.G81G	FBXO22_ENST00000540507.1_Intron|FBXO22_ENST00000453211.2_Silent_p.G81G|FBXO22_ENST00000565131.1_3'UTR	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	81					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ACCTGGAGGGGCATTGCTTGG	0.582000													5	274					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93127684	93127684	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:93127684G>A	ENST00000298050.3	+	10	1201	c.1101G>A	c.(1099-1101)agG>agA	p.R367R	CCDC67_ENST00000525646.1_Silent_p.R109R	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	367										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AAAGAATGAGGAATGAAATCT	0.398000													11	12					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138030223	138030223	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:138030223C>T	ENST00000409968.1	+	11	2565	c.2387C>T	c.(2386-2388)cCt>cTt	p.P796L	THSD7B_ENST00000272643.3_Missense_Mutation_p.P796L|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.P765L					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCCTTGTGTCCTGTATATCGG	0.378000													14	21					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993479	140993479	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:140993479C>T	ENST00000285879.4	+	4	575	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	97							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTCCTCTCCAGAATTCTCA	0.572000										HNSCC(15;0.026)			88	48					0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2583261	2583261	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:2583261C>T	ENST00000340611.4	-	5	1022	c.766G>A	c.(766-768)Gca>Aca	p.A256T		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	256					response to ionizing radiation	nucleus	protein binding	p.A256T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						AACGAGTGTGCGGCGGGGATG	0.692000													5	283					0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7848279	7848279	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:7848279C>T	ENST00000377532.3	+	4	789	c.565C>T	c.(565-567)Cct>Tct	p.P189S	PER3_ENST00000377541.1_Missense_Mutation_p.P189S|PER3_ENST00000361923.2_Missense_Mutation_p.P189S			P56645	PER3_HUMAN	period circadian clock 3	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTCAGCTTCCTTTCTGGAA	0.453000													47	89					0	0	1	0	0
ENTPD3	956	broad.mit.edu	37	3	40464489	40464489	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:40464489G>A	ENST00000301825.3	+	8	1098	c.980G>A	c.(979-981)gGa>gAa	p.G327E	ENTPD3_ENST00000456402.1_Missense_Mutation_p.G327E|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.G327E|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	327						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		ACTTTTGAAGGAACTGGGGAC	0.448000													39	94					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974067	49974067	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:49974067C>T	ENST00000555099.1	+	1	125	c.93C>T	c.(91-93)gtC>gtT	p.V31V		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TGTTTTCTGTCATCTACATCA	0.408000													234	225					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153130375	153130375	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:153130375G>A	ENST00000370060.1	-	23	3136	c.2947C>T	c.(2947-2949)Ctc>Ttc	p.L983F	L1CAM_ENST00000361699.4_Missense_Mutation_p.L983F|L1CAM_ENST00000361981.3_Missense_Mutation_p.L978F|L1CAM_ENST00000370057.3_Missense_Mutation_p.L983F|L1CAM_ENST00000538883.1_Missense_Mutation_p.L985F|L1CAM_ENST00000370055.1_Missense_Mutation_p.L978F|L1CAM_ENST00000543994.1_Missense_Mutation_p.L985F	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	983	Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGGGCTGAGATCGGTCAGG	0.622000													154	62					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29509639	29509639	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:29509639C>T	ENST00000358273.4	+	8	1227	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	NF1_ENST00000431387.4_Nonsense_Mutation_p.Q282*|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q282*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	282					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGAAATAATCCAGGATATATC	0.368000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			9	28					0	0	1	0	0
XRCC6BP1	91419	broad.mit.edu	37	12	58335513	58335513	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:58335513G>A	ENST00000300145.3	+	1	154	c.29G>A	c.(28-30)cGg>cAg	p.R10Q		NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	10					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						GAgcgccggcggggccccgcg	0.697000													10	23					0	0	1	0	0
DUPD1	338599	broad.mit.edu	37	10	76797702	76797702	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:76797702C>T	ENST00000338487.5	-	3	554	c.555G>A	c.(553-555)ccG>ccA	p.P185P		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	185	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AGCCCCGGTTCGGGAGGACGC	0.652000													38	77					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101656106	101656106	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:101656106G>A	ENST00000342239.3	-	10	3132	c.3041C>T	c.(3040-3042)tCc>tTc	p.S1014F	DNMBP_ENST00000324109.4_Missense_Mutation_p.S990F|DNMBP_ENST00000543621.1_Missense_Mutation_p.S236F|DNMBP_ENST00000540316.1_Intron			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	990	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GTTCAGTTTGGAAATTTTCTC	0.458000													46	104					0	0	1	0	0
RNASE2	6036	broad.mit.edu	37	14	21424357	21424357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:21424357C>T	ENST00000304625.2	+	2	517	c.427C>T	c.(427-429)Caa>Taa	p.Q143*		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	143					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		CAACAGAGATCAACGACGAGA	0.463000													102	174					0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44798977	44798977	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:44798977C>T	ENST00000309315.4	+	7	1034	c.911C>T	c.(910-912)tCc>tTc	p.S304F	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.S304F|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.S304F|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.S272F|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.S272F	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	304	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCTCCCCTTCCTACCCTGGG	0.667000													60	190					0	0	1	0	0
NXPE3	91775	broad.mit.edu	37	3	101520198	101520198	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:101520198C>T	ENST00000422132.1	+	2	410	c.213C>T	c.(211-213)tcC>tcT	p.S71S	NXPE3_ENST00000273347.5_Silent_p.S71S|NXPE3_ENST00000491511.1_Silent_p.S71S|NXPE3_ENST00000477909.1_Silent_p.S71S					neurexophilin and PC-esterase domain family, member 3																		AGACCCTGTCCAGCCAGGAGC	0.557000													101	182					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40357546	40357546	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:40357546G>A	ENST00000221347.6	-	34	15774	c.15767C>T	c.(15766-15768)cCt>cTt	p.P5256L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5256	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATAGACACCAGGAGAGGTGGT	0.602000													25	85					0	0	1	0	0
LHX4	89884	broad.mit.edu	37	1	180243345	180243345	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:180243345C>T	ENST00000263726.2	+	6	1048	c.804C>T	c.(802-804)ggC>ggT	p.G268G	RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						CAGAACTTGGCCACACCAATA	0.493000													5	229					0	0	1	0	0
DNTT	1791	broad.mit.edu	37	10	98088483	98088483	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:98088483G>A	ENST00000419175.1	+	8	1179	c.1007_splice	c.e8-1	p.G337_splice	DNTT_ENST00000371174.2_Splice_Site_p.G337_splice	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	337	Involved in ssDNA binding (By similarity).|Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GAAAATTAGGGGTAAGAAGAT	0.328000													34	85					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51780227	51780227	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:51780227G>A	ENST00000251076.5	-	22	5428	c.5141C>T	c.(5140-5142)tCc>tTc	p.S1714F	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.S1714F|DMXL2_ENST00000449909.3_Missense_Mutation_p.S1078F	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1714						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCCAAGTAAGGAAAAAGCATT	0.373000													116	236					0	0	1	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19363204	19363204	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:19363204C>T	ENST00000454498.2	-	4	1155	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.A48T|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.A48T|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.A48T|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.A48T	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	48					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GGGCTGTTGGCCCTGGGCAGT	0.622000													4	119					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37252971	37252971	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:37252971C>T	ENST00000310758.4	-	12	1570	c.923G>A	c.(922-924)aGg>aAg	p.R308K	ELMO1_ENST00000442504.1_Missense_Mutation_p.R308K|ELMO1_ENST00000448602.1_Missense_Mutation_p.R308K	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	308					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGTCATCATCCTGTCTTCCAG	0.498000													43	148					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21119191	21119191	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:21119191G>A	ENST00000255882.6	-	22	2708	c.2622C>T	c.(2620-2622)ccC>ccT	p.P874P	PI4KA_ENST00000466162.1_5'UTR|PI4KA_ENST00000572273.1_Silent_p.P816P	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	816					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCTCGGGAGGGGGGTCCAGCA	0.592000													26	62					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861147	55861147	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:55861147C>T	ENST00000302124.2	+	1	395	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	OR8I2_ENST00000560768.1_Missense_Mutation_p.R122C			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GGCCTACAATCGCTACATAGC	0.433000													73	133					0	0	1	0	0
TCEA3	6920	broad.mit.edu	37	1	23743819	23743819	+	Silent	SNP	T	T	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:23743819T>C	ENST00000450454.2	-	4	409	c.303A>G	c.(301-303)aaA>aaG	p.K101K	TCEA3_ENST00000374601.3_Silent_p.K101K|TCEA3_ENST00000461794.1_Silent_p.K64K	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	101					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		ACTCAAGccctttttccttct	0.473000													4	188					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1396942	1396942	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:1396942C>T	ENST00000324385.5	+	28	3000	c.2842C>T	c.(2842-2844)Cat>Tat	p.H948Y	BAIAP3_ENST00000562208.1_Missense_Mutation_p.H890Y|BAIAP3_ENST00000426824.3_Missense_Mutation_p.H913Y|BAIAP3_ENST00000564213.1_Intron|BAIAP3_ENST00000421665.2_Missense_Mutation_p.H877Y|BAIAP3_ENST00000397488.2_Missense_Mutation_p.H930Y|BAIAP3_ENST00000568887.1_Missense_Mutation_p.H885Y|BAIAP3_ENST00000397489.1_Missense_Mutation_p.H930Y	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	948	MHD2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CAGCCGCTTCCATTTCACGCT	0.642000													13	27					0	0	1	0	0
HRG	3273	broad.mit.edu	37	3	186395478	186395478	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:186395478C>T	ENST00000232003.4	+	7	1464	c.1384C>T	c.(1384-1386)Cct>Tct	p.P462S		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	462	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GTACCGACTCCCTCCTCTAAG	0.557000													55	128					0	0	1	0	0
MED25	81857	broad.mit.edu	37	19	50335387	50335387	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:50335387C>T	ENST00000312865.6	+	12	1400	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	MED25_ENST00000538643.1_Silent_p.I236I	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	449	Interaction with CREBBP.|Interaction with VP16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		AGAAGCTGATCATGCAGCTCA	0.687000													32	58					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107838818	107838818	+	Silent	SNP	C	C	T	rs104886330		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:107838818C>T	ENST00000328300.6	+	22	1747	c.1503C>T	c.(1501-1503)ctC>ctT	p.L501L	COL4A5_ENST00000361603.2_Silent_p.L501L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	501	Triple-helical region.		Missing (in APSX; juvenile type).		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						TGCCAGGTCTCCCAGGTCCTC	0.408000									Alport syndrome with Diffuse Leiomyomatosis				51	30					0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69670040	69670040	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:69670040G>A	ENST00000194900.4	+	6	1120	c.779G>A	c.(778-780)gGg>gAg	p.G260E	DLG3_ENST00000374360.3_Missense_Mutation_p.G242E			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	242	PDZ 2.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					AGCATTGCTGGGGGTATTGGC	0.562000													14	11					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	618710	618710	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:618710T>C	ENST00000358353.3	-	14	2171	c.1849A>G	c.(1849-1851)Atg>Gtg	p.M617V	CDHR5_ENST00000397542.2_Missense_Mutation_p.M617V|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	617	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CTGGTTCCCATACCGGGGGGC	0.662000													6	449					0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64056633	64056633	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:64056633C>T	ENST00000438980.2	+	7	1263	c.1156C>T	c.(1156-1158)Cac>Tac	p.H386Y	GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000411458.1_Silent_p.A408A|GPR137_ENST00000313074.3_Silent_p.A350A|GPR137_ENST00000377702.4_Missense_Mutation_p.H336Y	NM_001170880.1	NP_001164351.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	0						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						ACCAGGCGGCCACCACCACAG	0.662000													43	117					0	0	1	0	0
RHBDL1	9028	broad.mit.edu	37	16	727788	727788	+	Silent	SNP	C	C	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:727788C>A	ENST00000219551.2	+	7	1080	c.1053C>A	c.(1051-1053)tcC>tcA	p.S351S	RHBDL1_ENST00000352681.3_Silent_p.S286S			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	351					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				CAGTGAGCTCCGAGGTGGGCC	0.756000													10	18					0.0581538	0.0584729	1	1	0
ADCY10	55811	broad.mit.edu	37	1	167791305	167791305	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:167791305G>A	ENST00000367848.1	-	30	4464	c.3967C>T	c.(3967-3969)Cac>Tac	p.H1323Y	ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000545172.1_Missense_Mutation_p.H1262Y|ADCY10_ENST00000367851.4_Missense_Mutation_p.H1415Y			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1415					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						AGTCCACTGTGGAACTTGAGG	0.393000													25	51					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83520203	83520203	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:83520203C>T	ENST00000566620.1	+	7	1193	c.903C>T	c.(901-903)atC>atT	p.I301I	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Silent_p.I262I|CDH13_ENST00000268613.10_Silent_p.I348I	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	301	Cadherin 2.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGTTCTACATCGATCCTGAGA	0.488000													59	88					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126746621	126746621	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:126746621G>A	ENST00000339582.2	-	3	1464	c.656C>T	c.(655-657)tCg>tTg	p.S219L	GRM8_ENST00000444921.2_Missense_Mutation_p.S219L|GRM8_ENST00000358373.3_Missense_Mutation_p.S219L|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.S219L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	219					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.S219L(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGCCAGTGTCGAAACATAATT	0.493000										HNSCC(24;0.065)			42	96					0	0	1	0	0
SLC52A3	113278	broad.mit.edu	37	20	742399	742399	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:742399C>T	ENST00000381944.3	-	4	1384	c.1143G>A	c.(1141-1143)gcG>gcA	p.A381A	SLC52A3_ENST00000217254.7_Silent_p.A381A|SLC52A3_ENST00000473664.1_5'UTR			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	381					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										GGCTCATCACCGCCATGGCCA	0.642000													32	61					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141924	133141924	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:133141924G>A	ENST00000388996.4	-	15	2624	c.2204C>T	c.(2203-2205)cCt>cTt	p.P735L	KCNQ3_ENST00000521134.1_Missense_Mutation_p.P615L|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P723L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	735					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGCTGAGGAAGGAGGAGTTGC	0.577000													24	42					0	0	1	0	0
LINC00610	399879	broad.mit.edu	37	11	36293231	36293231	+	RNA	SNP	A	A	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:36293231A>C	ENST00000355500.1	-	0	340																											TGAATACATAAGGAGGAAGAG	0.488000													8	40					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248020615	248020615	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:248020615C>T	ENST00000366481.3	+	1	115	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	23						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTGGATTTCCTGCAGGAGCC	0.736000													8	17					0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39722043	39722043	+	Silent	SNP	A	A	G	rs142402603		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:39722043A>G	ENST00000280082.3	+	5	1858	c.1659A>G	c.(1657-1659)aaA>aaG	p.K553K	RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	162						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		AAAATTCGAAACCATCAGTAG	0.383000													33	69					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1815985	1815985	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:1815985C>T	ENST00000250894.4	+	21	2625	c.2468C>T	c.(2467-2469)cCc>cTc	p.P823L	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.P817L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	823					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GACTACCCTCCCGGGGAGATG	0.687000													23	41					0	0	1	0	0
ZFP30	22835	broad.mit.edu	37	19	38126129	38126129	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:38126129A>T	ENST00000351218.2	-	6	1870	c.1313T>A	c.(1312-1314)tTt>tAt	p.F438Y	ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.F438Y|ZFP30_ENST00000392144.1_Missense_Mutation_p.F438Y	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTACACTTAAAGGGTTTCTC	0.383000													4	87					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227946866	227946866	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:227946866C>T	ENST00000396625.3	-	23	1868	c.1661G>A	c.(1660-1662)gGg>gAg	p.G554E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G554E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	554	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCCTTCGCCCCTTTGTTGCC	0.423000													76	176					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553980	140553980	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:140553980G>A	ENST00000231137.3	+	1	1738	c.1564G>A	c.(1564-1566)Gag>Aag	p.E522K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		522	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGACTACGAGGCCCTGCA	0.711000													106	191					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158395120	158395120	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:158395120G>A	ENST00000243349.7	-	8	1681	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*	ACVR1C_ENST00000335450.7_Nonsense_Mutation_p.R361*|ACVR1C_ENST00000348328.5_Nonsense_Mutation_p.R284*|ACVR1C_ENST00000409680.3_Nonsense_Mutation_p.R391*	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	441	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATACTTGGTCGAAACTTCTGG	0.388000													59	129					0	0	1	0	0
GIPR	2696	broad.mit.edu	37	19	46181011	46181011	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:46181011C>T	ENST00000590918.1	+	10	997	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	GIPR_ENST00000593127.1_Intron|GIPR_ENST00000304207.8_Missense_Mutation_p.R264W|GIPR_ENST00000263281.3_Missense_Mutation_p.R300W	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	300					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GTGGATTATACGGACCCCCAT	0.572000													5	304					0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125626694	125626694	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:125626694A>G	ENST00000261686.6	+	17	1879	c.1735A>G	c.(1735-1737)Agc>Ggc	p.S579G	AACS_ENST00000543665.1_Silent_p.K78K|AACS_ENST00000545511.1_Silent_p.K158K|AACS_ENST00000316519.6_Silent_p.K646K|AACS_ENST00000316543.10_Silent_p.K244K			Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	0					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TCGCTGGAAAAGCCGTGGAGC	0.532000													5	209					0	0	1	0	0
ERF	2077	broad.mit.edu	37	19	42752805	42752805	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:42752805G>A	ENST00000222329.4	-	4	1616	c.1459C>T	c.(1459-1461)Cgc>Tgc	p.R487C	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Missense_Mutation_p.R412C	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	487					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				TCACTCCAGCGCCGCTTAAAG	0.682000													79	143					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70897897	70897897	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:70897897G>A	ENST00000322773.4	+	47	3077	c.2975G>A	c.(2974-2976)gGa>gAa	p.G992E	COL19A1_ENST00000393344.1_Missense_Mutation_p.G614E	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	992	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGCTCCATGGGATCCCCTGGC	0.597000													31	51					0	0	1	0	0
GPATCH3	63906	broad.mit.edu	37	1	27224028	27224028	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:27224028G>A	ENST00000361720.5	-	2	663	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	214						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GTGATGATCCGAGGGGGTAGG	0.607000													86	145					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	247586	247586	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:247586C>T	ENST00000538872.1	+	4	1175	c.1057C>T	c.(1057-1059)Ctg>Ttg	p.L353L	IQSEC3_ENST00000382841.2_Silent_p.L50L|IQSEC3_ENST00000326261.4_Silent_p.L353L|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	353					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GCGGATCTCCCTGCGCAAGGT	0.657000													18	37					0	0	1	0	0
SUZ12	23512	broad.mit.edu	37	17	30302590	30302590	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:30302590C>T	ENST00000322652.5	+	7	910	c.681C>T	c.(679-681)ttC>ttT	p.F227F	SUZ12_ENST00000580398.1_Silent_p.F204F	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	227					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CCGGAAATTTCCCGTCCCTTG	0.433000			T	JAZF1	endometrial stromal tumours								51	79					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083313	9083313	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:9083313C>T	ENST00000397910.4	-	1	8705	c.8502G>A	c.(8500-8502)acG>acA	p.T2834T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2834	Ser-rich.|Thr-rich.		T -> M (in dbSNP:rs10407623).		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						TCAGTCTGTTCGTGGTGATTT	0.507000													15	31					0	0	1	0	0
SLC39A8	64116	broad.mit.edu	37	4	103228746	103228746	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:103228746G>A	ENST00000424970.2	-	4	714	c.399C>T	c.(397-399)ttC>ttT	p.F133F	SLC39A8_ENST00000510255.1_5'UTR|SLC39A8_ENST00000356736.4_Silent_p.F133F|SLC39A8_ENST00000394833.2_Silent_p.F133F	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	133						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		TCACTGACAGGAATCCATATC	0.378000													71	162					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	80968130	80968130	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:80968130C>T	ENST00000334512.5	+	6	670	c.98C>T	c.(97-99)aCg>aTg	p.T33M		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	33					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AATGCCGCCACGGAGCTGCTG	0.622000													21	69					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45152162	45152162	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:45152162C>T	ENST00000296129.1	-	4	961	c.827G>A	c.(826-828)aGg>aAg	p.R276K	CDCP1_ENST00000425231.2_Missense_Mutation_p.R276K	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	276						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CTCCTCCTTCCTCTCACAGTT	0.587000													91	163					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75038070	75038070	+	Silent	SNP	T	T	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:75038070T>A	ENST00000401621.2	-	21	2595	c.2475A>T	c.(2473-2475)ctA>ctT	p.L825L	TTC18_ENST00000493787.1_Intron|TTC18_ENST00000310715.3_Silent_p.L825L|TTC18_ENST00000355577.3_Silent_p.L294L|TTC18_ENST00000394865.1_Silent_p.L825L|TTC18_ENST00000340329.3_Intron			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	825							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GAAATTTGTCTAGAATAGATA	0.328000													16	36					0	0	1	0	0
MTERFD1	51001	broad.mit.edu	37	8	97258136	97258136	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:97258136G>A	ENST00000523821.1	-	6	968	c.849C>T	c.(847-849)ctC>ctT	p.L283L	MTERFD1_ENST00000287025.3_Silent_p.L283L|MTERFD1_ENST00000524341.1_Silent_p.L93L|MTERFD1_ENST00000522822.1_Silent_p.L162L			Q96E29	MTER1_HUMAN	MTERF domain containing 1	283					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					GCAGCCTTGGGAGACGAACTA	0.358000													49	87					0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66273119	66273119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:66273119C>T	ENST00000409699.2	-	7	931	c.759G>A	c.(757-759)tgG>tgA	p.W253*	MEGF11_ENST00000422354.1_Nonsense_Mutation_p.W253*|MEGF11_ENST00000288745.3_Nonsense_Mutation_p.W178*|MEGF11_ENST00000360698.4_Nonsense_Mutation_p.W253*|MEGF11_ENST00000395625.2_Nonsense_Mutation_p.W178*|MEGF11_ENST00000395614.1_5'UTR			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	253	EGF-like 4.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CACTTACCGTCCAGCCTGGGG	0.612000													6	20					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120764304	120764304	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:120764304C>T	ENST00000273666.6	+	5	663	c.392C>T	c.(391-393)tCa>tTa	p.S131L	STXBP5L_ENST00000471454.1_Missense_Mutation_p.S131L|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S131L|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S131L|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S131L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	131					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGTGCAAGTTCAGATGATACA	0.348000													86	162					0	0	1	0	0
IFI44L	10964	broad.mit.edu	37	1	79093958	79093958	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:79093958G>A	ENST00000370751.4	+	2	537	c.358G>A	c.(358-360)Gat>Aat	p.D120N	IFI44L_ENST00000342282.3_Intron|IFI44L_ENST00000476521.1_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	120						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ATCGAAAACGGATATTTTCAT	0.303000													12	32					0	0	1	0	0
FZD8	8325	broad.mit.edu	37	10	35930045	35930045	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:35930045G>A	ENST00000374694.1	-	1	317	c.313C>T	c.(313-315)Ccg>Tcg	p.P105S		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	105	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CGGCAGGGCGGCAGCGGCTTC	0.677000													4	99					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154061985	154061985	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:154061985G>A	ENST00000368559.3	-	16	2344	c.2273C>T	c.(2272-2274)gCc>gTc	p.A758V	NUP210L_ENST00000271854.3_Missense_Mutation_p.A758V	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	758						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GGCAGGGTGGGCACAAATGAA	0.502000													5	232					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39439574	39439574	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:39439574C>T	ENST00000257408.4	+	3	1661	c.1564C>T	c.(1564-1566)Ccc>Tcc	p.P522S		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	522	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GGGCCAGTTTCCCTGTGACTT	0.413000													39	77					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199970	71199970	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:71199970C>T	ENST00000554752.2	-	11	2115	c.2116G>A	c.(2116-2118)Gga>Aga	p.G706R	MAP3K9_ENST00000553414.1_Missense_Mutation_p.G439R|MAP3K9_ENST00000554146.1_Missense_Mutation_p.G434R|MAP3K9_ENST00000381250.4_Missense_Mutation_p.G683R|MAP3K9_ENST00000555993.2_Missense_Mutation_p.G720R			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	706					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CCATCCTCTCCACGAGGGAAT	0.592000													31	86					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54756800	54756800	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:54756800G>A	ENST00000450632.1	-	9	1458	c.1381C>T	c.(1381-1383)Ctg>Ttg	p.L461L	LILRB5_ENST00000316219.5_Silent_p.L469L|LILRB5_ENST00000449561.2_Silent_p.L470L|LILRB5_ENST00000345866.6_Silent_p.L370L			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	469					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)		aACAGCAGCAGGACGAAGGCC	0.597000													35	86					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41682063	41682063	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:41682063G>A	ENST00000313860.7	+	19	2462	c.2408G>A	c.(2407-2409)tGg>tAg	p.W803*	LIMCH1_ENST00000381753.4_Nonsense_Mutation_p.W636*|LIMCH1_ENST00000508501.1_Nonsense_Mutation_p.W802*|LIMCH1_ENST00000512820.1_Nonsense_Mutation_p.W815*|LIMCH1_ENST00000511496.1_Nonsense_Mutation_p.W643*|LIMCH1_ENST00000509277.1_Nonsense_Mutation_p.W636*|LIMCH1_ENST00000512632.1_Nonsense_Mutation_p.W726*|LIMCH1_ENST00000396595.3_Nonsense_Mutation_p.W648*|LIMCH1_ENST00000513024.1_Nonsense_Mutation_p.W656*|LIMCH1_ENST00000503057.1_Nonsense_Mutation_p.W1187*|LIMCH1_ENST00000512946.1_Nonsense_Mutation_p.W803*|LIMCH1_ENST00000514096.1_Nonsense_Mutation_p.W643*	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	803	Glu-rich.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AAAGAAGAGTGGGAAAAGGCC	0.443000													7	23					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325380	150325380	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:150325380G>A	ENST00000328902.5	-	3	522	c.306C>T	c.(304-306)ccC>ccT	p.P102P	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	102							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGAGACCTGGGGGGACAGAA	0.622000													123	111					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123595079	123595079	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:123595079C>T	ENST00000340011.5	+	4	1340	c.983C>T	c.(982-984)aCt>aTt	p.T328I	SPAM1_ENST00000223028.7_Missense_Mutation_p.T328I|SPAM1_ENST00000439500.1_Missense_Mutation_p.T328I|SPAM1_ENST00000460182.1_Missense_Mutation_p.T328I|SPAM1_ENST00000402183.2_Missense_Mutation_p.T328I	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	328					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TTTGGCGAAACTGTTGCTCTG	0.368000													81	281					0	0	1	0	0
RFX3	5991	broad.mit.edu	37	9	3275553	3275553	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:3275553T>C	ENST00000382004.3	-	10	1344	c.1033A>G	c.(1033-1035)Act>Gct	p.T345A	RFX3_ENST00000358730.2_Missense_Mutation_p.T345A|RFX3_ENST00000302303.1_Missense_Mutation_p.T345A	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	345					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TCAAAGGTAGTACCATCTGGC	0.413000													60	25					0	0	1	0	0
ZC3HAV1L	92092	broad.mit.edu	37	7	138713620	138713620	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:138713620G>A	ENST00000275766.1	-	3	599	c.588C>T	c.(586-588)tcC>tcT	p.S196S		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	196										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						CTTTCACAAAGGATTTGCACA	0.448000													29	65					0	0	1	0	0
PLLP	51090	broad.mit.edu	37	16	57292408	57292408	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:57292408C>T	ENST00000219207.5	-	3	544	c.398G>A	c.(397-399)gGc>gAc	p.G133D	PLLP_ENST00000569059.1_Missense_Mutation_p.G75D	NM_015993.2	NP_057077.1	Q9Y342	PLLP_HUMAN	plasmolipin	133	MARVEL.					integral to membrane	ion channel activity			endometrium(1)|prostate(1)	2						AGGCCGGGTGCCCCTCAGGGA	0.607000													4	88					0	0	1	0	0
SRPX	8406	broad.mit.edu	37	X	38020250	38020250	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:38020250G>A	ENST00000378533.3	-	6	817	c.711C>T	c.(709-711)atC>atT	p.I237I	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_Silent_p.I178I|SRPX_ENST00000544439.1_Silent_p.I217I|SRPX_ENST00000538295.1_Silent_p.I237I|SRPX_ENST00000343800.6_Silent_p.I224I	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	237	HYR.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						CTGTGTACTGGATCTTGTGGT	0.418000													68	23					0	0	1	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60241715	60241715	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:60241715C>T	ENST00000269499.5	+	13	2819	c.2401C>T	c.(2401-2403)Cca>Tca	p.P801S	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.P480S	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	801					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AACCTTCCTTCCACACAGTAG	0.488000													40	73					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103300477	103300477	+	Silent	SNP	A	A	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:103300477A>G	ENST00000520539.1	-	36	5337	c.4731T>C	c.(4729-4731)ggT>ggC	p.G1577G	UBR5_ENST00000220959.4_Silent_p.G1577G|UBR5_ENST00000521922.1_Silent_p.G1571G|UBR5_ENST00000519528.1_5'UTR	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1577					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTCCAGCCACACCCTCCACCA	0.423000													4	198					0	0	1	0	0
STYXL1	51657	broad.mit.edu	37	7	75651186	75651186	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:75651186G>A	ENST00000451157.1	-	4	459	c.290C>T	c.(289-291)tCt>tTt	p.S97F	STYXL1_ENST00000340062.5_Intron|STYXL1_ENST00000431581.1_Missense_Mutation_p.S97F|STYXL1_ENST00000460184.2_5'UTR|STYXL1_ENST00000359697.3_Missense_Mutation_p.S97F|STYXL1_ENST00000248600.1_Missense_Mutation_p.S97F|STYXL1_ENST00000360591.3_Missense_Mutation_p.S97F			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	97	Rhodanese.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						ATCACCATCAGAGTCTGAATC	0.428000													187	564					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503497	140503497	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:140503497C>T	ENST00000194152.1	+	1	1917	c.1917C>T	c.(1915-1917)ctC>ctT	p.L639L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		639	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCACAGGCTCGTGGTGCTTG	0.687000													43	80					0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47563623	47563623	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:47563623C>T	ENST00000359314.5	+	12	1591	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	379	Pro-rich.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			GGAACAGAAACCTTCTAAACC	0.353000													135	495					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44943329	44943329	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:44943329G>A	ENST00000296125.4	+	8	945	c.877G>A	c.(877-879)Gat>Aat	p.D293N		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	293					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GACAGGCTTCGATTCAGCTCA	0.562000													43	68					0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55417934	55417934	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:55417934G>A	ENST00000594765.1	+	3	149	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	NCR1_ENST00000338835.5_Missense_Mutation_p.E42K|NCR1_ENST00000598576.1_Missense_Mutation_p.E30K|NCR1_ENST00000291890.4_Missense_Mutation_p.E42K|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000447255.1_Missense_Mutation_p.E42K|NCR1_ENST00000357397.5_Intron			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	42	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GGTTCCAAAGGAAAAGCAAGT	0.547000													75	120					0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44530940	44530940	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:44530940C>A	ENST00000542937.1	-	11	1735	c.1201G>T	c.(1201-1203)Ggg>Tgg	p.G401W	PLTP_ENST00000420868.2_Missense_Mutation_p.G286W|PLTP_ENST00000372420.1_Missense_Mutation_p.G293W|PLTP_ENST00000372431.3_Missense_Mutation_p.G381W|PLTP_ENST00000354050.4_Missense_Mutation_p.G329W|PLTP_ENST00000477313.1_Missense_Mutation_p.G381W			P55058	PLTP_HUMAN	phospholipid transfer protein	381					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				AGGGCCTTCCCCCGGAGAGCC	0.607000													18	47					6.49762e-13	6.58749e-13	1	1	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316759	39316759	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:39316759T>C	ENST00000390661.3	-	1	224	c.185A>G	c.(184-186)cAc>cGc	p.H62R		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	62	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).			keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGGTGGCAGCAGGT	0.662000													6	176					0	0	1	0	0
GRAMD2	196996	broad.mit.edu	37	15	72455638	72455638	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:72455638C>T	ENST00000309731.7	-	10	938	c.925G>A	c.(925-927)Gat>Aat	p.D309N	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	309						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						AGCCGGTAATCCCAGAGCCTC	0.557000													43	73					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198721860	198721860	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:198721860G>A	ENST00000367376.2	+	31	3633	c.3462G>A	c.(3460-3462)ggG>ggA	p.G1154G	PTPRC_ENST00000352140.3_Silent_p.G1106G|PTPRC_ENST00000594404.1_Silent_p.G993G|PTPRC_ENST00000348564.6_Silent_p.G995G|PTPRC_ENST00000442510.2_Silent_p.G1156G	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1154	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			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						CCTCTGAAGGGAACAAGCATC	0.448000													30	54					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38949597	38949597	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:38949597C>T	ENST00000450244.1	-	10	1514	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E	SCN11A_ENST00000302328.3_Missense_Mutation_p.G439E|SCN11A_ENST00000456224.3_Missense_Mutation_p.G439E|SCN11A_ENST00000444237.2_Missense_Mutation_p.G439E			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	439					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCTGTCAATTCCCATGGCAAC	0.383000													57	115					0	0	1	0	0
AKR1C2	1646	broad.mit.edu	37	10	5040898	5040898	+	Silent	SNP	G	G	A	rs139670873		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:5040898G>A	ENST00000380753.4	-	5	676	c.489C>T	c.(487-489)atC>atT	p.I163I	AKR1C2_ENST00000421196.3_Silent_p.I137I|AKR1C2_ENST00000407674.1_Silent_p.I163I	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	163					digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.I163M(1)		breast(1)|large_intestine(5)|lung(3)|skin(1)	10					NADH(DB00157)|Ursodeoxycholic acid(DB01586)	TGGACACCCCGATGGACTTGG	0.512000													64	122					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													9	272					0	0	1	0	0
EIF4E	1977	broad.mit.edu	37	4	99808328	99808328	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:99808328T>A	ENST00000450253.2	-	5	1825	c.301A>T	c.(301-303)Atg>Ttg	p.M101L	EIF4E_ENST00000505992.1_Missense_Mutation_p.M101L|EIF4E_ENST00000504432.1_Missense_Mutation_p.M129L|EIF4E_ENST00000280892.6_Missense_Mutation_p.M121L	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	101					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		TCTTCCCACATAGGCTCAATA	0.408000													107	233					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105945750	105945750	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:105945750G>A	ENST00000357060.3	-	15	2107	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	WDR96_ENST00000278064.2_Silent_p.I595I|WDR96_ENST00000428666.1_Silent_p.I665I	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	664										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAACGTCTCGGATACACAGAA	0.323000													26	84					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43908304	43908304	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:43908304G>A	ENST00000314537.5	+	8	993	c.768G>A	c.(766-768)gaG>gaA	p.E256E	CRHR1_ENST00000398285.3_Silent_p.E285E|CRHR1_ENST00000352855.5_Silent_p.E216E|CRHR1_ENST00000339069.5_Silent_p.E155E|CRHR1_ENST00000293493.7_Silent_p.E81E|CRHR1_ENST00000577353.1_Silent_p.E256E	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	285					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		ACGACAATGAGAAGTAAGTCA	0.592000													33	80					0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118957028	118957028	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:118957028G>A	ENST00000334549.1	+	1	29	c.29G>A	c.(28-30)aGg>aAg	p.R10K		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	10						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCCCAGGCCAGGAGATGCTGC	0.632000													40	104					0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41709394	41709394	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:41709394G>A	ENST00000310054.4	+	7	1232	c.1016G>A	c.(1015-1017)gGc>gAc	p.G339D	CYP2S1_ENST00000542619.1_Missense_Mutation_p.G64D	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	339					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CTGGGGGCTGGCCAGGCACCA	0.662000													3	20					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168112925	168112925	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:168112925A>T	ENST00000519560.1	-	31	3741	c.3322T>A	c.(3322-3324)Ttc>Atc	p.F1108I	SLIT3_ENST00000404867.3_Missense_Mutation_p.F1108I|SLIT3_ENST00000332966.8_Missense_Mutation_p.F1115I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1108	EGF-like 5.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTTCACAGAAGGGTCCACTG	0.592000													25	33					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38352297	38352297	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:38352297G>A	ENST00000322350.5	+	5	755		c.e5-1		EGFLAM_ENST00000354891.3_Splice_Site	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains							cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATCCCACCTAGATTCCTGCCT	0.542000													96	155					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510354	169510354	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:169510354A>G	ENST00000367796.3	-	13	4190	c.3989T>C	c.(3988-3990)cTc>cCc	p.L1330P	F5_ENST00000367797.3_Missense_Mutation_p.L1325P			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1325	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGTATGGCTGAGGTCTGGAGA	0.512000													5	614					0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46400774	46400774	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:46400774C>T	ENST00000454345.1	+	30	3250	c.3125C>T	c.(3124-3126)gCg>gTg	p.A1042V	DGKZ_ENST00000456247.2_Missense_Mutation_p.A853V|DGKZ_ENST00000318201.8_Missense_Mutation_p.A831V|DGKZ_ENST00000527911.1_Missense_Mutation_p.A854V|DGKZ_ENST00000421244.2_Missense_Mutation_p.A854V|DGKZ_ENST00000532868.2_Missense_Mutation_p.A858V|DGKZ_ENST00000343674.6_Missense_Mutation_p.A870V|DGKZ_ENST00000395574.3_Missense_Mutation_p.A820V|DGKZ_ENST00000528615.1_Missense_Mutation_p.A632V|DGKZ_ENST00000543978.1_Missense_Mutation_p.A206V	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	1042					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		ATCCTTGATGCGGTGGAGGAA	0.622000													5	288					0	0	1	0	0
NECAB1	64168	broad.mit.edu	37	8	91937813	91937813	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:91937813G>A	ENST00000417640.2	+	7	882	c.545G>A	c.(544-546)cGa>cAa	p.R182Q		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	182					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			CCTGGAAAACGATCAAGCCGC	0.463000													17	34					0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723366	48723366	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:48723366G>A	ENST00000335017.1	+	1	604	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	98					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CGGCCGCCACGAAGCGCCCAG	0.662000													20	35					0	0	1	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149858030	149858030	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:149858030C>T	ENST00000369155.2	-	1	202	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	54					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.G54D(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGACGAGATGCCGGTGTCGGG	0.587000													7	788					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92592402	92592402	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:92592402G>A	ENST00000298047.6	+	20	11589	c.11572G>A	c.(11572-11574)Gat>Aat	p.D3858N	FAT3_ENST00000525166.1_Missense_Mutation_p.D3708N|FAT3_ENST00000533797.1_Missense_Mutation_p.D193N|FAT3_ENST00000409404.2_Missense_Mutation_p.D3858N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3858	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAAAGAAGAGGATTTCAAACT	0.393000										TCGA Ovarian(4;0.039)			19	24					0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167713375	167713375	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:167713375C>T	ENST00000357154.3	-	8	801	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	SPOCK3_ENST00000504953.1_Missense_Mutation_p.E219K|SPOCK3_ENST00000511269.1_Missense_Mutation_p.E219K|SPOCK3_ENST00000421836.2_Missense_Mutation_p.E171K|SPOCK3_ENST00000506886.1_Missense_Mutation_p.E222K|SPOCK3_ENST00000511531.1_Missense_Mutation_p.E222K|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000541354.1_Missense_Mutation_p.E102K|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000502330.1_Missense_Mutation_p.E222K|SPOCK3_ENST00000534949.1_Missense_Mutation_p.E126K|SPOCK3_ENST00000510741.1_Intron|SPOCK3_ENST00000357545.4_Missense_Mutation_p.E219K|SPOCK3_ENST00000512681.1_Missense_Mutation_p.E124K|SPOCK3_ENST00000541637.1_Missense_Mutation_p.E124K|SPOCK3_ENST00000512648.1_Missense_Mutation_p.E219K	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	222					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CTTCCACTTTCATGAAGGGCC	0.403000													27	54					0	0	1	0	0
RNF152	220441	broad.mit.edu	37	18	59483148	59483148	+	Silent	SNP	G	G	A	rs150541292		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:59483148G>A	ENST00000312828.3	-	2	1648	c.549C>T	c.(547-549)ctC>ctT	p.L183L		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	183					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				GCACGATGCCGAGGAGGAAGA	0.572000													77	134					0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184700355	184700355	+	Splice_Site	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:184700355C>T	ENST00000437079.3	+	41	3593	c.3420_splice	c.e41-1	p.A1141_splice	VPS8_ENST00000446204.2_Splice_Site_p.A1049_splice|VPS8_ENST00000287546.4_Splice_Site_p.A1141_splice|VPS8_ENST00000436792.2_Splice_Site_p.A1139_splice	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1141							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ACATTATAGGCACTTTGGTTT	0.373000													24	63					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51752996	51752996	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:51752996G>A	ENST00000543196.2	-	7	1493	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C	GALNT6_ENST00000356317.3_Missense_Mutation_p.R430C			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	430					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCTGCCAGGCGCACTTGATTG	0.542000													6	558					0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31524590	31524590	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:31524590G>A	ENST00000331075.5	+	9	2192	c.2143G>A	c.(2143-2145)Gaa>Aaa	p.E715K	INPP5J_ENST00000404390.3_Missense_Mutation_p.E347K|INPP5J_ENST00000412277.2_Missense_Mutation_p.E648K|INPP5J_ENST00000405300.1_Missense_Mutation_p.E348K|INPP5J_ENST00000401755.1_Missense_Mutation_p.E80K|INPP5J_ENST00000402238.1_Missense_Mutation_p.E80K|INPP5J_ENST00000400294.2_Missense_Mutation_p.E348K|INPP5J_ENST00000404453.1_Missense_Mutation_p.E80K			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	715	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CAGCCACATGGAATACACAGT	0.617000													74	123					0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19764458	19764458	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:19764458C>T	ENST00000397821.3	-	3	554	c.264G>A	c.(262-264)acG>acA	p.T88T	SH3KBP1_ENST00000379697.3_Silent_p.T88T|SH3KBP1_ENST00000379698.4_Silent_p.T51T	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	88					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TTCTTAAAATCGTTTCAGAAG	0.423000													77	27					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84651889	84651889	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:84651889C>T	ENST00000284136.6	-	11	1275	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	411	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGGAAAATCTCGGGTGGACTT	0.413000													76	257					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78848402	78848402	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:78848402C>T	ENST00000545128.1	+	22	3294	c.2756C>T	c.(2755-2757)tCg>tTg	p.S919L		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	769					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CGCTGTGTTTCGAACTGCCCC	0.488000													26	73					0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107097220	107097220	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:107097220C>T	ENST00000261058.1	+	1	1033	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	262										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GGACATTTTTCCTCAGTGCTA	0.413000													62	124					0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4673818	4673818	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:4673818C>T	ENST00000396952.5	+	2	712	c.62C>T	c.(61-63)cCt>cTt	p.P21L	OR51E1_ENST00000530215.1_Missense_Mutation_p.P21L	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAGGCCTCCCTGGTTTAGAA	0.488000													81	332					0	0	1	0	0
DAK	26007	broad.mit.edu	37	11	61113938	61113938	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:61113938C>T	ENST00000394900.3	+	18	1920	c.1691C>T	c.(1690-1692)gCc>gTc	p.A564V		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	564	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GCAGCTGCTGCCATCCTCCGG	0.622000													7	473					0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125437720	125437720	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:125437720C>T	ENST00000304820.2	+	1	406	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TGTATTTCTTCCTGGTTTTTG	0.418000													107	188					0	0	1	0	0
CKMT1B	1159	broad.mit.edu	37	15	43888750	43888750	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:43888750G>A	ENST00000413657.2	+	5	924	c.486G>A	c.(484-486)ggG>ggA	p.G162G	CKMT1B_ENST00000450086.2_Intron|CKMT1B_ENST00000441322.1_Intron|CKMT1B_ENST00000300283.6_Intron			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	200	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	ACTATGTAGGGGAGCTAGGTG	0.418000													59	95					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13394186	13394186	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:13394186G>A	ENST00000360228.5	-	22	3716	c.3717C>T	c.(3715-3717)atC>atT	p.I1239I	CACNA1A_ENST00000573710.2_Silent_p.I1240I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1240					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCAGGTTCAGGATGTAATGGC	0.572000													28	55					0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78196546	78196546	+	Silent	SNP	C	C	T	rs147696830		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:78196546C>T	ENST00000361193.3	+	4	607	c.327C>T	c.(325-327)tcC>tcT	p.S109S	SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000411502.3_Silent_p.S109S|SLC26A11_ENST00000572725.1_Silent_p.S109S|SLC26A11_ENST00000546047.2_Silent_p.S109S	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	109						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCATTATGTCCCTCCTGGTCT	0.617000													126	237					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3415825	3415825	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:3415825G>A	ENST00000356575.4	-	24	3197	c.2971C>T	c.(2971-2973)Cca>Tca	p.P991S	MEGF6_ENST00000294599.4_Intron	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	991						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GTGTGGGCTGGGCAGGCTGCA	0.682000													13	17					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823444	38823444	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:38823444C>T	ENST00000303592.3	-	2	952	c.694G>A	c.(694-696)Ggc>Agc	p.G232S		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	232					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					AGGTACTCGCCCTCCTGGGTC	0.627000													29	65					0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46385776	46385776	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:46385776C>T	ENST00000256413.3	+	12	1938	c.1643C>T	c.(1642-1644)gCc>gTc	p.A548V	CTIF_ENST00000382998.4_Missense_Mutation_p.A550V	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	548	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GAGCTCCTGGCCAGCGCACGG	0.622000													59	130					0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67694231	67694231	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:67694231G>A	ENST00000219251.8	-	1	482	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	ACD_ENST00000393919.4_Missense_Mutation_p.L51F	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	51					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGCCGGAGGAGGAGGCCCCGC	0.741000													31	52					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706593	96706593	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:96706593C>T	ENST00000389672.5	+	3	908	c.870C>T	c.(868-870)gcC>gcT	p.A290A	EPHA6_ENST00000470610.2_Silent_p.A290A|EPHA6_ENST00000542517.1_Silent_p.A196A	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	195						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CGTGCATTGCCCTGGTTTCAG	0.463000													184	265					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218682838	218682838	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:218682838C>T	ENST00000171887.4	-	24	4357	c.3905G>A	c.(3904-3906)cGt>cAt	p.R1302H	TNS1_ENST00000419504.1_Missense_Mutation_p.R1289H|TNS1_ENST00000430930.1_Missense_Mutation_p.R1281H	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1302						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCCGAGGTGACGGCCCAGGCT	0.652000													14	39					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414316	20414316	+	Silent	SNP	G	G	A	rs62640391		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:20414316G>A	ENST00000380338.4	-	5	814	c.528C>T	c.(526-528)agC>agT	p.S176S	MLLT3_ENST00000429426.2_Silent_p.S173S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	176	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctactgctgctgctgctgc	0.522000			T	MLL	ALL								5	151					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51742901	51742901	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:51742901C>T	ENST00000262262.4	+	7	1074	c.1053C>T	c.(1051-1053)tcC>tcT	p.S351S	CD33_ENST00000421133.2_Silent_p.S224S|CD33_ENST00000600557.1_3'UTR	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	351					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TGAATCCTTCCAAGGACACCT	0.542000													16	44					0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37226133	37226133	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:37226133G>A	ENST00000315392.4	-	13	1570	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.S413S|PLXDC1_ENST00000539608.1_3'UTR|CTD-2206N4.4_ENST00000583447.1_RNA	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	453					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCGCAGCATTGGATGTGGGGT	0.617000											OREG0024368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	84					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96493188	96493188	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:96493188C>T	ENST00000285979.6	+	8	1483	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	CYP2C18_ENST00000339022.5_Silent_p.F369F|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TCATGCCTTTCTCAGCAGGTA	0.438000													52	122					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73658887	73658887	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:73658887C>T	ENST00000420326.2	-	4	602	c.443G>A	c.(442-444)cGc>cAc	p.R148H	RECQL5_ENST00000584999.1_Missense_Mutation_p.R148H|RECQL5_ENST00000423245.2_Missense_Mutation_p.R121H|RECQL5_ENST00000340830.5_Missense_Mutation_p.R148H|RECQL5_ENST00000317905.5_Missense_Mutation_p.R148H	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	148	Helicase ATP-binding.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	p.R121H(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGCAGGTGGCGGGACACCAG	0.572000								Other identified genes with known or suspected DNA repair function					7	412					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53678753	53678753	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:53678753C>A	ENST00000396424.3	-	3	176	c.87G>T	c.(85-87)caG>caT	p.Q29H	ZNF665_ENST00000600412.1_Intron	NM_024733.3	NP_079009.3	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q29H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ACAAAGTCTTCTGAGCAGGGT	0.458000													101	212					7.17885e-55	7.39059e-55	1	1	0
ZDBF2	57683	broad.mit.edu	37	2	207170120	207170120	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:207170120G>A	ENST00000374423.3	+	5	1254	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	290							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAAATTCCATGAACGCATGGG	0.358000													19	33					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110496253	110496253	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:110496253C>T	ENST00000324068.1	-	4	656	c.489G>A	c.(487-489)ctG>ctA	p.L163L	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	163	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AAGCTTTTTCCAGCAGAGCAT	0.438000													40	18					0	0	1	0	0
TCP1	6950	broad.mit.edu	37	6	160208881	160208881	+	Translation_Start_Site	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:160208881C>T	ENST00000392168.2	-	0	321				TCP1_ENST00000544255.1_De_novo_Start_OutOfFrame|TCP1_ENST00000321394.7_Missense_Mutation_p.G58D|TCP1_ENST00000420894.2_Missense_Mutation_p.G58D	NM_001008897.1	NP_001008897.1	P17987	TCPA_HUMAN	t-complex 1						'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GATGGTTGCACCATCGTTAGT	0.398000													54	109					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834477	101834477	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:101834477G>A	ENST00000506729.1	-	1	243	c.72C>T	c.(70-72)gcC>gcT	p.A24A	SLCO6A1_ENST00000513675.1_Silent_p.A24A|SLCO6A1_ENST00000389019.3_Silent_p.A24A|SLCO6A1_ENST00000379807.3_Silent_p.A24A|SLCO6A1_ENST00000379810.1_Silent_p.A24A			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	24						integral to membrane|plasma membrane	transporter activity	p.A24A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GGGCCCGCGCGGCCTCCAGCG	0.652000													149	257					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196759927	196759927	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:196759927G>A	ENST00000312428.6	-	30	4769	c.4669C>T	c.(4669-4671)Cct>Tct	p.P1557S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1557					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTACCCCAGGAAACAAATCC	0.318000													38	63					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141164053	141164053	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:141164053G>A	ENST00000514251.1	+	4	3102	c.2823G>A	c.(2821-2823)aaG>aaA	p.K941K	ZBTB38_ENST00000441582.2_Silent_p.K941K|ZBTB38_ENST00000321464.5_Silent_p.K942K			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	941					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ACTGGAGGAAGGAGCACGGAA	0.483000													28	51					0	0	1	0	0
ZNF165	7718	broad.mit.edu	37	6	28057200	28057200	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:28057200C>T	ENST00000377325.1	+	4	1966	c.1410C>T	c.(1408-1410)aaC>aaT	p.N470N		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	470					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGAGCTCAAACCTTAGTCAAC	0.383000													31	96					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221397	55221397	+	RNA	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:55221397G>A	ENST00000413439.1	+	0	1177																											CCCCTGGGGAGAATCTGACCC	0.627000													41	52					0	0	1	0	0
TRAV6	6956	broad.mit.edu	37	14	22237271	22237271	+	RNA	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:22237271C>T	ENST00000390428.3	+	0	355																											TGTTTCATATCACAGCCTCCC	0.463000													139	276					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27147809	27147809	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:27147809G>A	ENST00000288699.6	+	3	474	c.316G>A	c.(316-318)Gag>Aag	p.E106K	DPYSL5_ENST00000401478.1_Missense_Mutation_p.E106K	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	106					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCGACAAGGAGACCTCCCT	0.637000													22	36					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20269565	20269565	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:20269565G>A	ENST00000245957.5	+	23	3185	c.3109G>A	c.(3109-3111)Gga>Aga	p.G1037R	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	1037										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)		CATGTACAAGGGAGCCAAGAT	0.512000													18	28					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113103514	113103514	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:113103514G>A	ENST00000316851.7	+	11	1470	c.1470G>A	c.(1468-1470)ttG>ttA	p.L490L	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.L499L|NCAM1_ENST00000533760.1_Silent_p.L372L	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	500	Ig-like C2-type 5.				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)		AGGAGTCCTTGGAATTCATCC	0.502000													49	37					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945567	16945567	+	RNA	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:16945567G>A	ENST00000412962.1	-	0	1952																											CTCTGACAGCGCCATCTTCTC	0.622000													8	1237					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51512900	51512900	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:51512900G>A	ENST00000371117.3	-	63	11602	c.11327C>T	c.(11326-11328)tCc>tTc	p.S3776F		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3776					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGGTCCCAGGGACTCTACTCT	0.413000													41	105					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52360211	52360211	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:52360211C>T	ENST00000420323.2	+	4	723	c.462C>T	c.(460-462)atC>atT	p.I154I		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	154	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGCAGTGCATCGGGTCCACCA	0.632000													14	27					0	0	1	0	0
CTNNA1	1495	broad.mit.edu	37	5	138266243	138266243	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:138266243C>A	ENST00000302763.7	+	15	2182	c.2092C>A	c.(2092-2094)Ctg>Atg	p.L698M	CTNNA1_ENST00000518825.1_Missense_Mutation_p.L698M|CTNNA1_ENST00000355078.5_Missense_Mutation_p.L595M|CTNNA1_ENST00000540387.1_Missense_Mutation_p.L328M	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	698					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAAGAGCAAGCTGGATGCTGA	0.502000													5	288					0.217242	0.218135	1	1	0
PDGFRA	5156	broad.mit.edu	37	4	55139714	55139714	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:55139714G>A	ENST00000257290.5	+	10	1706	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	459	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.E459K(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ATGTAATAATGAAACTTCCTG	0.488000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			43	84					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198723483	198723483	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:198723483C>T	ENST00000367376.2	+	32	3760	c.3589C>T	c.(3589-3591)Caa>Taa	p.Q1197*	PTPRC_ENST00000352140.3_Nonsense_Mutation_p.Q1149*|PTPRC_ENST00000594404.1_Nonsense_Mutation_p.Q1036*|PTPRC_ENST00000348564.6_Nonsense_Mutation_p.Q1038*|PTPRC_ENST00000442510.2_Nonsense_Mutation_p.Q1199*	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1197	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			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						GGATATTTTTCAAGTGGTAAA	0.378000													57	111					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086775	92086775	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:92086775G>A	ENST00000298047.6	+	1	1514	c.1497G>A	c.(1495-1497)aaG>aaA	p.K499K	FAT3_ENST00000541502.1_Silent_p.K499K|FAT3_ENST00000525166.1_Silent_p.K349K|FAT3_ENST00000409404.2_Silent_p.K499K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	499	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTTCTGATAAGGATAAAGGAG	0.403000										TCGA Ovarian(4;0.039)			41	16					0	0	1	0	0
CA4	762	broad.mit.edu	37	17	58234039	58234039	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:58234039G>A	ENST00000300900.4	+	3	330	c.231G>A	c.(229-231)aaG>aaA	p.K77K		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	77					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	GCTACGATAAGAAGCAAACGT	0.567000													63	116					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98589769	98589769	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:98589769G>A	ENST00000359863.4	+	64	9987	c.9778G>A	c.(9778-9780)Gtg>Atg	p.V3260M	TRRAP_ENST00000355540.3_Missense_Mutation_p.V3231M|TRRAP_ENST00000446306.3_Missense_Mutation_p.V3231M	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3260	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTTGGACGCGTGTATCCCCA	0.498000													8	875					0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1703452	1703452	+	Silent	SNP	G	G	A	rs139637633	byFrequency	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:1703452G>A	ENST00000305513.7	-	5	1403	c.1236C>T	c.(1234-1236)tgC>tgT	p.C412C		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	412							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CATTAATATCGCATCCAGGAA	0.418000													5	261					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130833010	130833010	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:130833010C>T	ENST00000357462.5	-	15	2128	c.2035G>A	c.(2035-2037)Gat>Aat	p.D679N	POTEF_ENST00000409914.2_Missense_Mutation_p.D679N|POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000360967.5_3'UTR			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	679						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTTTCAATATCCTCCAAATAT	0.388000													29	56					0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71697451	71697451	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:71697451C>T	ENST00000356340.3	+	32	2361	c.1825C>T	c.(1825-1827)Cgt>Tgt	p.R609C	COL13A1_ENST00000398966.3_Missense_Mutation_p.R587C|COL13A1_ENST00000357811.3_Missense_Mutation_p.R587C|COL13A1_ENST00000398974.3_Missense_Mutation_p.R597C|COL13A1_ENST00000398973.3_Missense_Mutation_p.R595C|COL13A1_ENST00000522165.1_Missense_Mutation_p.R590C|COL13A1_ENST00000398968.3_Missense_Mutation_p.R590C|COL13A1_ENST00000398972.3_Missense_Mutation_p.R595C|COL13A1_ENST00000398971.3_Missense_Mutation_p.R594C|COL13A1_ENST00000520133.1_Missense_Mutation_p.R543C|COL13A1_ENST00000517713.1_Missense_Mutation_p.R572C|COL13A1_ENST00000398964.3_Missense_Mutation_p.R580C|COL13A1_ENST00000354547.3_Missense_Mutation_p.R587C|COL13A1_ENST00000398969.3_Missense_Mutation_p.R537C|COL13A1_ENST00000520267.1_Missense_Mutation_p.R537C|COL13A1_ENST00000398978.3_Missense_Mutation_p.R609C			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	609	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AAAAGGAGACCGTGGTCCCCT	0.587000													27	54					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135738894	135738894	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:135738894G>A	ENST00000375845.3	-	9	3447	c.3417C>T	c.(3415-3417)ttC>ttT	p.F1139F	MAP3K19_ENST00000375844.3_Silent_p.F321F|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Silent_p.F1026F|MAP3K19_ENST00000392918.3_Silent_p.F273F|MAP3K19_ENST00000392917.3_Silent_p.F271F	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		CAAACTCCATGAAAATGCTCA	0.408000													82	134					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16032855	16032855	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:16032855C>T	ENST00000326742.7	-	8	1108	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E	CYP4F11_ENST00000402119.3_Silent_p.E369E|CYP4F11_ENST00000248041.7_Silent_p.E369E			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	369					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						ACCATTCAATCTCTATAGGTT	0.507000													29	69					0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169681153	169681153	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:169681153G>A	ENST00000444448.2	+	5	599	c.123G>A	c.(121-123)ctG>ctA	p.L41L	NOSTRIN_ENST00000445023.2_5'UTR|NOSTRIN_ENST00000458381.2_Silent_p.L41L|NOSTRIN_ENST00000421711.2_Intron|NOSTRIN_ENST00000317647.7_Silent_p.L41L|NOSTRIN_ENST00000397206.2_5'UTR|NOSTRIN_ENST00000397209.2_Intron			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	41	FCH.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						GGGCAAACCTGGAAATTAGCT	0.473000													29	66					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53092722	53092722	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:53092722C>T	ENST00000276480.7	-	9	920	c.237G>A	c.(235-237)gaG>gaA	p.E79E		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	79						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGCCATCGTCCTCTGTCCTGT	0.537000													126	238					0	0	1	0	0
C9orf69	90120	broad.mit.edu	37	9	139008662	139008662	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:139008662G>A	ENST00000418388.1	-	2	587	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	C9orf69_ENST00000561457.1_Silent_p.C53C					chromosome 9 open reading frame 69											endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		TGGGAGGCGCGCACGGGCCCG	0.672000													4	70					0	0	1	0	0
VCL	7414	broad.mit.edu	37	10	75868811	75868811	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:75868811A>G	ENST00000211998.4	+	18	2736	c.2642A>G	c.(2641-2643)aAg>aGg	p.K881R	VCL_ENST00000372755.3_Missense_Mutation_p.K881R|VCL_ENST00000417648.2_Missense_Mutation_p.K142R	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	881	C-terminal tail.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CCAGAGGAAAAGGATGAAGAG	0.527000													4	119					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10363351	10363351	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:10363351C>T	ENST00000255381.2	-	14	1444	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	445	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTGGTTGATGCGGGTGACCAT	0.478000													6	393					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66713161	66713161	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:66713161C>T	ENST00000423207.2	+	2	740	c.255C>T	c.(253-255)ggC>ggT	p.G85G	PDE4B_ENST00000371049.3_Silent_p.G100G|PDE4B_ENST00000329654.4_Silent_p.G100G	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	100					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TGGAAAATGGCCCTTCCCCAG	0.542000													6	597					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558697	140558697	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:140558697C>T	ENST00000239444.2	+	1	1327	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		361	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A361V(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGAGAATGCGCCTGAAACT	0.448000													7	877					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													7	119					0	0	1	0	0
SPNS2	124976	broad.mit.edu	37	17	4439702	4439702	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:4439702C>T	ENST00000329078.3	+	11	1798	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	530					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						CGTCAGCGACCGCGCCAGGGC	0.682000													37	74					0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176304232	176304232	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:176304232G>A	ENST00000329542.4	+	9	1692	c.1418G>A	c.(1417-1419)gGg>gAg	p.G473E	UNC5A_ENST00000261961.3_Missense_Mutation_p.G433E	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	473	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATACCCCGAGGGAAGATCTAT	0.637000													56	92					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55578989	55578989	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:55578989G>A	ENST00000333973.2	+	1	136	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ATTCTCCTTGGACTATCAGAT	0.433000													131	218					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40115076	40115076	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:40115076C>T	ENST00000261435.6	+	7	2028	c.1612C>T	c.(1612-1614)Ctt>Ttt	p.L538F		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	538						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATATAAAGTCCTTTTTCGGGA	0.323000													84	184					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156589988	156589988	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:156589988C>T	ENST00000302938.4	-	2	1383	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	430						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTCTTCTTTCCTTGTTTTCA	0.498000													77	168					0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105865960	105865960	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:105865960C>T	ENST00000372548.4	+	2	832	c.723C>T	c.(721-723)atC>atT	p.I241I	CXorf57_ENST00000372544.2_Silent_p.I241I	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	241										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TTGTGAGGATCTTACATAAAT	0.299000													16	6					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91290632	91290632	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:91290632G>T	ENST00000355112.3	+	2	128	c.10G>T	c.(10-12)Gtt>Ttt	p.V4F	BLM_ENST00000560509.1_Missense_Mutation_p.V4F	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	4					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TATGGCTGCTGTTCCTCAAAA	0.353000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				4	13					1	1	1	1	0
SLC8A1	6546	broad.mit.edu	37	2	40392041	40392041	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:40392041C>T	ENST00000406785.1	-	5	2203	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E700K|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E703K|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E672K|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.E708K|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E672K|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E708K|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.E703K|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E672K|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E672K			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	708					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTGGTGTGCTCTCCCAGGATG	0.507000													92	166					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238274614	238274614	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:238274614C>T	ENST00000295550.4	-	12	6017	c.5565G>A	c.(5563-5565)caG>caA	p.Q1855Q	COL6A3_ENST00000353578.4_Silent_p.Q1649Q|COL6A3_ENST00000347401.3_Silent_p.Q1654Q|COL6A3_ENST00000346358.4_Silent_p.Q1655Q|COL6A3_ENST00000472056.1_Silent_p.Q1248Q|COL6A3_ENST00000409809.1_Silent_p.Q1649Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1855	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGAAGCCCTTCTGGGCCACAA	0.537000													100	171					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18631182	18631182	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:18631182C>T	ENST00000406451.3	+	5	600	c.450C>T	c.(448-450)ttC>ttT	p.F150F	HDAC9_ENST00000428307.2_Silent_p.F150F|HDAC9_ENST00000441542.2_Silent_p.F153F|HDAC9_ENST00000406072.1_Silent_p.F181F|HDAC9_ENST00000432645.2_Silent_p.F150F|HDAC9_ENST00000405010.3_Silent_p.F150F|HDAC9_ENST00000401921.1_Silent_p.F153F|HDAC9_ENST00000417496.2_Silent_p.F192F|HDAC9_ENST00000524023.1_Silent_p.F119F|HDAC9_ENST00000456174.2_Silent_p.F122F	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	150	Interaction with MEF2 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTCAAGAGTTCCTACTGAGTA	0.453000													11	66					0	0	1	0	0
IL17RE	132014	broad.mit.edu	37	3	9948679	9948679	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:9948679C>T	ENST00000454190.2	+	6	646	c.561C>T	c.(559-561)gcC>gcT	p.A187A	IL17RE_ENST00000295980.3_Silent_p.A187A|IL17RE_ENST00000421412.1_Silent_p.A220A|IL17RE_ENST00000383814.3_Silent_p.A187A	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	187						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		TGCCTGAGGCCCGGGCTATTC	0.572000													39	77					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95944499	95944499	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:95944499C>T	ENST00000317620.9	+	9	1214	c.1081C>T	c.(1081-1083)Ctg>Ttg	p.L361L	PROM2_ENST00000403131.2_Silent_p.L361L|PROM2_ENST00000542147.1_Silent_p.L361L|PROM2_ENST00000317668.4_Silent_p.L361L	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	361						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CCTTCCAGCCCTGGCTGCCAT	0.632000													46	96					0	0	1	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045754	142045754	+	RNA	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:142045754C>T	ENST00000390392.3	+	0	393																											CTCACTTATTCCTTCACCTAC	0.502000													245	861					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121739511	121739511	+	Missense_Mutation	SNP	G	G	A	rs149915358	byFrequency	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:121739511G>A	ENST00000379538.3	+	3	287	c.35G>A	c.(34-36)cGa>cAa	p.R12Q	SNCAIP_ENST00000261368.8_Silent_p.T27T|SNCAIP_ENST00000379536.2_Silent_p.T27T|SNCAIP_ENST00000379533.2_Silent_p.T74T|SNCAIP_ENST00000261367.7_Silent_p.T74T|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R18Q|SNCAIP_ENST00000503116.2_Silent_p.T74T|SNCAIP_ENST00000504884.2_Silent_p.T27T	NM_001242935.1	NP_001229864.1	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	0					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CACTCAAGACGATCCCAGAAC	0.453000													90	192					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128321778	128321778	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:128321778C>T	ENST00000389524.4	+	3	122	c.69C>T	c.(67-69)gcC>gcT	p.A23A	MYO7B_ENST00000428314.1_Silent_p.A23A|MYO7B_ENST00000409816.2_Silent_p.A23A			Q6PIF6	MYO7B_HUMAN	myosin VIIB	23						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCGGCGTGGCCATCGGGGGCA	0.612000													4	8					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91308570	91308570	+	Missense_Mutation	SNP	C	C	T	rs146077918	byFrequency	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:91308570C>T	ENST00000355112.3	+	9	2237	c.2119C>T	c.(2119-2121)Cct>Tct	p.P707S	BLM_ENST00000560136.1_Intron|BLM_ENST00000560509.1_Missense_Mutation_p.P707S	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	707	Helicase ATP-binding.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CTGTGTTTCTCCTGGGGTCAC	0.393000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				32	82					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10071135	10071135	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:10071135C>T	ENST00000264828.3	-	67	5275	c.5190G>A	c.(5188-5190)acG>acA	p.T1730T		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1730	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.T1730T(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACTTTTGGTTCGTCTGGCCAA	0.577000													36	87					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7230884	7230884	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:7230884C>T	ENST00000379938.2	+	10	3089	c.2552C>T	c.(2551-2553)gCt>gTt	p.A851V	RREB1_ENST00000379933.3_Missense_Mutation_p.A851V|RREB1_ENST00000349384.6_Missense_Mutation_p.A851V|RREB1_ENST00000334984.6_Missense_Mutation_p.A851V	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	851					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGTGGCTGCGCTGCCCTTGGT	0.701000													19	27					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40955635	40955635	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:40955635C>T	ENST00000313164.9	+	10	1599	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	414	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GACTAATCTTCCTCAAGTCAT	0.413000													51	121					0	0	1	0	0
IGHV2-26	28455	broad.mit.edu	37	14	106757686	106757686	+	RNA	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:106757686G>A	ENST00000390611.2	-	0	344																											TGTCCACAGGGTCCATGTTGG	0.527000													108	226					0	0	1	0	0
C9orf152	401546	broad.mit.edu	37	9	112963642	112963642	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:112963642C>T	ENST00000400613.4	-	2	915	c.306G>A	c.(304-306)ctG>ctA	p.L102L	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	102										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CAGCCTCCTCCAGCCTCCCCT	0.577000													33	68					0	0	1	0	0
ERV3-1	2086	broad.mit.edu	37	7	64452902	64452902	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:64452902C>T	ENST00000394323.2	-	2	1003	c.503G>A	c.(502-504)tGc>tAc	p.C168Y		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		168						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						ccacgttgtgcagtcccagca	0.418000													6	223					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138453028	138453028	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:138453028C>T	ENST00000344876.4	-	1	601	c.215G>A	c.(214-216)gGa>gAa	p.G72E	PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.G72E	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	72	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AGGAGAATTTCCCCTCTGCAT	0.433000													76	170					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25755598	25755598	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:25755598C>T	ENST00000376351.3	+	5	1713	c.1354C>T	c.(1354-1356)Ctt>Ttt	p.L452F		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	452						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGCATCGGGCCTTATCCTGTT	0.348000													26	54					0	0	1	0	0
TCF3	6929	broad.mit.edu	37	19	1615610	1615610	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:1615610C>T	ENST00000395423.3	-	14	1535	c.1508G>A	c.(1507-1509)cGc>cAc	p.R503H	TCF3_ENST00000262965.5_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000453954.2_Intron			P15923	TFE2_HUMAN	transcription factor 3	533					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		AGTGTGGGTGCGGTGTGCGTG	0.721000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								4	103					0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69143610	69143610	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:69143610C>T	ENST00000306560.1	+	2	468	c.312C>T	c.(310-312)tgC>tgT	p.C104C	HAS3_ENST00000569188.1_Silent_p.C104C|HAS3_ENST00000219322.3_Silent_p.C104C	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	104					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TGCGCAAGTGCCTGCGCTCGG	0.662000													39	66					0	0	1	0	0
CRHR2	1395	broad.mit.edu	37	7	30693131	30693131	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:30693131G>A	ENST00000471646.1	-	12	1598	c.1181C>T	c.(1180-1182)cCt>cTt	p.P394L	CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000348438.4_Missense_Mutation_p.P421L|CRHR2_ENST00000341843.4_Missense_Mutation_p.P380L	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	394					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGTGATGTAGGGATGGACAT	0.652000													216	316					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47479171	47479171	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:47479171G>A	ENST00000398879.1	-	6	430	c.64C>T	c.(64-66)Cct>Tct	p.P22S	TNS3_ENST00000458317.2_Missense_Mutation_p.P22S|TNS3_ENST00000355730.3_Missense_Mutation_p.P22S|TNS3_ENST00000311160.9_Missense_Mutation_p.P22S|TNS3_ENST00000442536.2_Missense_Mutation_p.P22S			Q68CZ2	TENS3_HUMAN	tensin 3	22	Phosphatase tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CAGCCGGCAGGGAAGGACACA	0.622000													19	69					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs35873108	byFrequency	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389561.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602000													4	129					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.				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										ggggagggggtgggggtggag	0.627000													7	27					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6710663	6710663	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:6710663G>A	ENST00000245907.6	-	13	1765	c.1673C>T	c.(1672-1674)tCc>tTc	p.S558F		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	558					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCCCACGCAGGAGTCCTTGAC	0.637000													20	28					0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15725588	15725588	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:15725588C>T	ENST00000262041.5	-	1	849	c.440G>A	c.(439-441)gGg>gAg	p.G147E		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	147					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		GCCGTAGTCCCCCGGCGCGCA	0.706000													66	295					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29001417	29001417	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr13:29001417G>A	ENST00000282397.4	-	10	1566	c.1315C>T	c.(1315-1317)Cca>Tca	p.P439S	FLT1_ENST00000541932.1_Missense_Mutation_p.P439S|FLT1_ENST00000539099.1_Missense_Mutation_p.P439S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	439	Ig-like C2-type 5.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCCGGGTCTGGAAACGATGAC	0.502000													41	78					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26683016	26683016	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:26683016G>A	ENST00000272371.2	-	46	5997	c.5871C>T	c.(5869-5871)ttC>ttT	p.F1957F	OTOF_ENST00000403946.3_Intron|OTOF_ENST00000338581.6_Silent_p.F1190F|OTOF_ENST00000402415.3_Silent_p.F1267F|OTOF_ENST00000339598.3_Intron	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1957					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGCCACAAGAAGTAGCGAG	0.602000													7	16					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29632630	29632630	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:29632630C>T	ENST00000278882.3	+	8	825	c.445C>T	c.(445-447)Caa>Taa	p.Q149*	FRG1B_ENST00000358464.4_Nonsense_Mutation_p.Q149*																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGAGCTTCCAAGACCACAA	0.299000													32	1324					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102498652	102498652	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:102498652C>T	ENST00000360184.4	+	52	10091	c.9927C>T	c.(9925-9927)tcC>tcT	p.S3309S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3309	Stalk (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGGTGAGGTCCATGGCCAACC	0.582000													124	257					0	0	1	0	0
AOC4P	90586	broad.mit.edu	37	17	41019509	41019509	+	RNA	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:41019509C>T	ENST00000585538.1	+	0	348					NR_002773.1																						GGCTGTGATGCGCTTTCTGAC	0.637000													6	448					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442194	138442194	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:138442194G>A	ENST00000344876.4	-	4	3783	c.3397C>T	c.(3397-3399)Cgc>Tgc	p.R1133C	PCDH18_ENST00000507846.1_Missense_Mutation_p.R912C|PCDH18_ENST00000511115.1_Missense_Mutation_p.R313C|PCDH18_ENST00000510305.1_Missense_Mutation_p.R344C|PCDH18_ENST00000412923.2_Missense_Mutation_p.R1132C	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1133	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TAGCTCTGGCGGACATCTTGA	0.423000													24	62					0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2901590	2901590	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:2901590G>A	ENST00000254695.8	+	14	1210	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.D355N|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.D359N|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.D374N	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	374	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						GTTTGTCCCAGACATGATAGC	0.478000													83	134					0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1370616	1370616	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:1370616G>A	ENST00000359786.5	-	31	3409	c.3085C>T	c.(3085-3087)Ccc>Tcc	p.P1029S	MYO1C_ENST00000575158.1_Missense_Mutation_p.P994S|MYO1C_ENST00000438665.2_Missense_Mutation_p.P1010S|MYO1C_ENST00000361007.2_Missense_Mutation_p.P994S|MYO1C_ENST00000545534.2_Missense_Mutation_p.P1005S	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	1029					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCCCTGCCGGGGCCCCCTGCA	0.647000													4	54					0	0	1	0	0
PITRM1	10531	broad.mit.edu	37	10	3180438	3180438	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:3180438G>A	ENST00000380989.2	-	26	3050	c.3012C>T	c.(3010-3012)gcC>gcT	p.A1004A	PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000451104.2_Silent_p.A905A|PITRM1_ENST00000224949.4_Silent_p.A1003A|PITRM1_ENST00000380994.1_Silent_p.A561A	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	905					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TATCGCTCACGGCCAGGAGCT	0.592000													27	50					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84628849	84628849	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:84628849G>A	ENST00000284136.6	-	17	2284	c.2241C>T	c.(2239-2241)ggC>ggT	p.G747G	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	747	Arg/Lys-rich (basic).				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCCACTTTGGGCCCCCCTTGT	0.498000													91	103					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55516975	55516975	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:55516975G>A	ENST00000219070.4	+	2	817	c.308G>A	c.(307-309)gGc>gAc	p.G103D	MMP2_ENST00000543485.1_Missense_Mutation_p.G27D|MMP2_ENST00000570308.1_Missense_Mutation_p.G27D|MMP2_ENST00000437642.2_Missense_Mutation_p.G53D	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	103					angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CCACGCTGCGGCAACCCAGAT	0.557000													5	202					0	0	1	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71281714	71281714	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:71281714G>A	ENST00000335793.3	-	2	1320	c.926C>T	c.(925-927)tCc>tTc	p.S309F	CDC42EP4_ENST00000439510.2_Missense_Mutation_p.S239F|CDC42EP4_ENST00000581014.1_Silent_p.L41L			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	309					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GCTGGAGAGGGAGCTGCTGTC	0.706000													42	68					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187780	57187780	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:57187780A>C	ENST00000331162.4	-	5	1612	c.1342T>G	c.(1342-1344)Tta>Gta	p.L448V		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GTTGAGGATAAGCTAAAGGCT	0.438000													6	230					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								39	64					0	0	1	0	0
ZFYVE19	84936	broad.mit.edu	37	15	41102083	41102083	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:41102083C>T	ENST00000355341.4	+	4	987	c.486C>T	c.(484-486)ccC>ccT	p.P162P	ZFYVE19_ENST00000336455.5_Silent_p.P152P|ZFYVE19_ENST00000570108.1_Silent_p.P139P|ZFYVE19_ENST00000299173.10_Silent_p.P162P|ZFYVE19_ENST00000564258.1_5'UTR	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	162							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGCAAAAGCCCAGCACTTCCC	0.582000													48	116					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10312862	10312862	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:10312862G>A	ENST00000403437.2	-	16	1725	c.1631C>T	c.(1630-1632)cCt>cTt	p.P544L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	544	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGTTGCCTTAGGGAACATGCA	0.493000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				69	119					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	306029	306029	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:306029G>A	ENST00000428720.1	-	11	1838	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	SLC6A12_ENST00000536824.1_Silent_p.I365I|SLC6A12_ENST00000359674.4_Silent_p.I365I|SLC6A12_ENST00000424061.2_Silent_p.I365I|SLC6A12_ENST00000397296.2_Silent_p.I365I	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	365					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TGGGGAAGGCGATGAAGGCCA	0.582000													33	78					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43626674	43626674	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:43626674C>T	ENST00000332857.6	-	4	2041	c.2013G>A	c.(2011-2013)ctG>ctA	p.L671L		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GGGTCTCACCCAGAATTTGCC	0.552000													95	55					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854839	88854839	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:88854839G>A	ENST00000537554.1	-	2	3717	c.155C>T	c.(154-156)tCc>tTc	p.S52F	CNR1_ENST00000549890.1_Missense_Mutation_p.S52F|CNR1_ENST00000468898.1_Intron|CNR1_ENST00000369499.2_Missense_Mutation_p.S52F|CNR1_ENST00000549716.1_Intron|CNR1_ENST00000428600.2_Missense_Mutation_p.S52F|CNR1_ENST00000362094.5_Intron|CNR1_ENST00000535130.1_Missense_Mutation_p.S52F|CNR1_ENST00000369501.2_Missense_Mutation_p.S52F	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	52					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TCCCCTAAAGGAAGTTAAAGG	0.468000													37	57					0	0	1	0	0
GOT2	2806	broad.mit.edu	37	16	58757768	58757768	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:58757768G>A	ENST00000245206.5	-	2	256	c.128C>T	c.(127-129)cCc>cTc	p.P43L	GOT2_ENST00000434819.2_Missense_Mutation_p.P43L|GOT2_ENST00000564400.1_5'UTR	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	43					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TCCCAGAATGGGATCTGGAGG	0.448000													61	128					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637000													5	310					0	0	1	0	0
RPS4Y2	140032	broad.mit.edu	37	Y	22923253	22923253	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrY:22923253G>A	ENST00000288666.5	+	4	346	c.346G>A	c.(346-348)Gtg>Atg	p.V116M		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	116					translation	ribosome	rRNA binding|structural constituent of ribosome			lung(2)	2						TCGTATCACAGTGGAAGAGGC	0.428000													35	8					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron	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					5	121					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	C	T	rs117285325	by1000genomes	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:78290635C>T	ENST00000409931.3	-	13	2778	c.2707G>A	c.(2707-2709)Gac>Aac	p.D903N	TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	0						intracellular	protein binding|Rab GTPase activator activity	p.D903N(3)|p.R920Q(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTAGGCGCGTCGGTTCCGGAT	0.617000													5	33					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71382004	71382004	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:71382004G>A	ENST00000392650.3	-	32	4551	c.4551C>T	c.(4549-4551)tcC>tcT	p.S1517S	SDK2_ENST00000388726.3_Silent_p.S1517S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1517	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGATTAGCACGGAGGTGGTGG	0.632000													7	30					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540186	169540186	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:169540186G>A	ENST00000340806.6	+	1	477	c.477G>A	c.(475-477)aaG>aaA	p.K159K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	159			K -> E (in dbSNP:rs16854411).							breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GTCTGCCCAAGGAAATAGTGA	0.502000													54	102					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455038	187455038	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:187455038G>A	ENST00000307161.5	-	2	1059	c.858C>T	c.(856-858)ttC>ttT	p.F286F	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	286					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GGCAGCTGTTGAAATACGCCA	0.507000													90	138					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158592861	158592861	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:158592861G>A	ENST00000368148.3	-	43	6212	c.6032C>T	c.(6031-6033)gCc>gTc	p.A2011V	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.A2008V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2011					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.A2011V(6)		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)					CAGCAGAGCGGCATAACGCTC	0.483000													7	738					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73072215	73072215	+	RNA	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:73072215G>A	ENST00000429829.1	-	0	373					NR_001564.2																						CAGCCCCGATGGGCAAAATAT	0.398000													17	2					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009207	120009207	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:120009207G>A	ENST00000371311.3	-	1	572	c.318C>T	c.(316-318)ttC>ttT	p.F106F		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	106										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCGCCAAGTCGAAGTTGGCCG	0.677000													32	11					0	0	1	0	0
CHID1	66005	broad.mit.edu	37	11	902240	902240	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:902240G>A	ENST00000449825.1	-	4	708	c.352C>T	c.(352-354)Cgt>Tgt	p.R118C	CHID1_ENST00000323541.7_Missense_Mutation_p.R148C|CHID1_ENST00000454838.2_Missense_Mutation_p.R143C|CHID1_ENST00000323578.8_Missense_Mutation_p.R118C|CHID1_ENST00000336845.5_Missense_Mutation_p.R143C|CHID1_ENST00000436108.2_Missense_Mutation_p.R118C|CHID1_ENST00000528581.1_Missense_Mutation_p.R143C|CHID1_ENST00000429789.2_Missense_Mutation_p.R118C|CHID1_ENST00000526714.1_5'UTR	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	118					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		AACATCTCACGGCCACGTCTC	0.557000													33	120					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6539007	6539007	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:6539007C>T	ENST00000263125.5	-	7	749	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	PRKCQ_ENST00000539722.1_Missense_Mutation_p.R92Q|PRKCQ_ENST00000397176.2_Missense_Mutation_p.R217Q	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	217					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CATGGTTTCTCGGCTATTGAT	0.373000													57	83					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240565	39240565	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:39240565G>A	ENST00000391417.4	+	1	107	c.107G>A	c.(106-108)aGg>aAg	p.R36K		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						ACCTGTTGCAGGACCACCTGC	0.652000													42	74					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787510	73787510	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:73787510G>A	ENST00000342056.2	+	5	1216	c.818G>A	c.(817-819)gGa>gAa	p.G273E	KCNQ5_ENST00000414165.2_Missense_Mutation_p.G273E|KCNQ5_ENST00000403813.2_Missense_Mutation_p.G273E|KCNQ5_ENST00000402622.2_Missense_Mutation_p.G273E|KCNQ5_ENST00000370392.1_Missense_Mutation_p.G273E|KCNQ5_ENST00000370398.1_Missense_Mutation_p.G273E|KCNQ5_ENST00000355635.3_Missense_Mutation_p.G273E|KCNQ5_ENST00000355194.4_Missense_Mutation_p.G273E	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	273					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGGTACATAGGATTTTTGGTT	0.348000													11	28					0	0	1	0	0
PACSIN1	29993	broad.mit.edu	37	6	34499504	34499504	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:34499504C>T	ENST00000538621.1	+	9	1410	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	PACSIN1_ENST00000374043.2_Missense_Mutation_p.R347C|PACSIN1_ENST00000244458.2_Missense_Mutation_p.R389C	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	389	SH3.				endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CAAGGGAGTGCGCGTGCGGGC	0.652000													6	605					0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39633452	39633452	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:39633452G>A	ENST00000246639.2	-	7	1266	c.1134C>T	c.(1132-1134)ctC>ctT	p.L378L	KRT35_ENST00000393989.1_Silent_p.L408L			Q92764	KRT35_HUMAN	keratin 35	408	Coil 2.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GGTTACAGGGGAGCCTAGAAA	0.488000													33	78					0	0	1	0	0
PLEK2	26499	broad.mit.edu	37	14	67864416	67864416	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:67864416G>A	ENST00000216446.4	-	2	310	c.170C>T	c.(169-171)aCc>aTc	p.T57I		NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	57	PH 1.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		GCAGGTGATGGTGCAGCCATC	0.607000													19	41					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221246	5221246	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:5221246G>A	ENST00000321255.1	-	1	684	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTAAGAATCAGGATGTAGGAG	0.433000													106	76					0	0	1	0	0
SLC25A46	91137	broad.mit.edu	37	5	110097004	110097004	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:110097004C>T	ENST00000355943.3	+	8	905	c.779C>T	c.(778-780)cCg>cTg	p.P260L	SLC25A46_ENST00000513807.1_Missense_Mutation_p.P98L|SLC25A46_ENST00000447245.2_Intron|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000509432.1_Missense_Mutation_p.P47L|SLC25A46_ENST00000509442.2_Missense_Mutation_p.P169L|SLC25A46_ENST00000504098.1_Missense_Mutation_p.P114L	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	260					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		CGACTTCTTCCGCTTCTTTCC	0.403000													58	121					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146488	70146488	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:70146488C>T	ENST00000335568.5	+	1	272	c.270C>T	c.(268-270)atC>atT	p.I90I	UGT2B28_ENST00000511240.1_Silent_p.I90I	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	90					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AGAATATCATCATGCAACAGG	0.328000													92	175					0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11782225	11782225	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:11782225G>T	ENST00000356957.3	-	10	2165	c.2058C>A	c.(2056-2058)ttC>ttA	p.F686L	TXNDC11_ENST00000283033.5_Missense_Mutation_p.F659L|TXNDC11_ENST00000570917.1_5'UTR			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	686	Thioredoxin 2.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GCTGAGACGGGAACTGGGCAG	0.398000													51	107					2.43277e-16	2.46984e-16	1	1	0
SGSM1	129049	broad.mit.edu	37	22	25315917	25315917	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:25315917G>A	ENST00000400358.4	+	24	3207	c.3150G>A	c.(3148-3150)ttG>ttA	p.L1050L	SGSM1_ENST00000400359.4_Silent_p.L1105L	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1105	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACATCATTTTGGAGAACAACA	0.522000													17	29					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49442984	49442984	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:49442984G>A	ENST00000301067.7	-	12	3923	c.3924C>T	c.(3922-3924)ttC>ttT	p.F1308F		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GTCTTCCTGGGAAACTGCTGC	0.537000													4	20					0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895367	24895367	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr13:24895367G>A	ENST00000382071.2	+	4	548	c.463G>A	c.(463-465)Ggc>Agc	p.G155S	AL359736.1_ENST00000422229.2_Missense_Mutation_p.P67L|C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.G155S			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	155	Collagen-like 3.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GGGCCCCATGGGCCCTATTGG	0.632000													23	10					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40400157	40400157	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:40400157G>A	ENST00000338305.6	-	2	1238	c.696C>T	c.(694-696)gcC>gcT	p.A232A		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	232						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACAAGGGTGGGGCAAAGGGTG	0.597000													43	120					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	14019093	14019093	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:14019093G>A	ENST00000279593.3	-	2	259	c.50C>T	c.(49-51)gCc>gTc	p.A17V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	17					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.A17D(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGCCAGGACGGCCAACACCAA	0.557000													25	49					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67680104	67680104	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:67680104C>T	ENST00000433211.1	-	18	2846	c.2672G>A	c.(2671-2673)gGa>gAa	p.G891E	CTNNA3_ENST00000373744.4_Missense_Mutation_p.G891E|CTNNA3_ENST00000373735.1_Missense_Mutation_p.G230E	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	891					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GATTTGTCTTCCTCTAAATTC	0.378000													40	102					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17085361	17085361	+	RNA	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:17085361C>T	ENST00000455405.2	-	0	6																											CACCAGGGCCCATGGCTATCC	0.597000													11	125					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159900109	159900109	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:159900109G>A	ENST00000368094.1	-	15	2131	c.1934C>T	c.(1933-1935)cCc>cTc	p.P645L	IGSF9_ENST00000361509.3_Missense_Mutation_p.P629L|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	645	Fibronectin type-III 2.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGCTCTGGGGGATCCCAATG	0.672000													88	225					0	0	1	0	0
PRKD3	23683	broad.mit.edu	37	2	37496818	37496818	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:37496818C>A	ENST00000379066.1	-	13	2479	c.1717G>T	c.(1717-1719)Gtt>Ttt	p.V573F	PRKD3_ENST00000234179.2_Missense_Mutation_p.V573F			O94806	KPCD3_HUMAN	protein kinase D3	573					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ATCTGGTAAACAGTACTGATA	0.358000													42	68					2.77807e-22	2.83216e-22	1	1	0
ERBB4	2066	broad.mit.edu	37	2	212578266	212578266	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:212578266G>A	ENST00000342788.4	-	8	1301	c.991C>T	c.(991-993)Cca>Tca	p.P331S	ERBB4_ENST00000402597.1_Missense_Mutation_p.P331S|ERBB4_ENST00000436443.1_Missense_Mutation_p.P331S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	331	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TCACCTTTTGGGCAAATGTCA	0.378000										TSP Lung(8;0.080)			22	34					0	0	1	0	0
SNRNP48	154007	broad.mit.edu	37	6	7601643	7601643	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:7601643C>T	ENST00000342415.5	+	5	540	c.481C>T	c.(481-483)Cgt>Tgt	p.R161C		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	161					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TCAAGCTGATCGTCTTGCCCT	0.363000													48	133					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6959439	6959439	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:6959439G>A	ENST00000389658.3	-	54	7772	c.7679C>T	c.(7678-7680)cCt>cTt	p.P2560L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2560	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCATCCCCAGGATTGACATG	0.517000													42	79					0	0	1	0	0
IRGQ	126298	broad.mit.edu	37	19	44099324	44099324	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:44099324A>G	ENST00000422989.1	-	2	322	c.167T>C	c.(166-168)cTt>cCt	p.L56P	IRGQ_ENST00000602269.1_Missense_Mutation_p.L56P	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	56							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCCCAGAAAAAGGCCTGGGCC	0.716000													3	51					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433345	55433345	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:55433345C>T	ENST00000314259.3	+	1	732	c.703C>T	c.(703-705)Ctc>Ttc	p.L235F		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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						GCACAAAGCCCTCTCTACCTG	0.502000													85	154					0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57971321	57971321	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:57971321G>A	ENST00000302592.6	-	1	332	c.333C>T	c.(331-333)atC>atT	p.I111I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				ACATCTGTGTGATGCAGCTCT	0.448000													82	196					0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138314862	138314862	+	Silent	SNP	T	T	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:138314862T>C	ENST00000421622.1	-	6	643	c.435A>G	c.(433-435)aaA>aaG	p.K145K	SVOPL_ENST00000419765.3_Silent_p.K265K|SVOPL_ENST00000436657.1_Silent_p.K113K|SVOPL_ENST00000288513.5_Silent_p.K113K			Q8N434	SVOPL_HUMAN	SVOP-like	265						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						ATCTTCCTCTTTTTTCCTGGG	0.373000													70	70					0	0	1	0	0
ANKRD6	22881	broad.mit.edu	37	6	90337353	90337353	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:90337353G>A	ENST00000369408.5	+	13	1667	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	ANKRD6_ENST00000520793.1_Missense_Mutation_p.E416K|ANKRD6_ENST00000522441.1_Missense_Mutation_p.E475K|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000339746.4_Missense_Mutation_p.E475K|ANKRD6_ENST00000447838.2_Missense_Mutation_p.E475K	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	475							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		AGAGAGGACGGAGTGCCTGAA	0.502000													26	59					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677308	100677308	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:100677308C>T	ENST00000306151.4	+	3	2675	c.2611C>T	c.(2611-2613)Cct>Tct	p.P871S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	871	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					AACAAGTATGCCTGTCAGCAC	0.488000													9	1504					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105261767	105261767	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:105261767C>T	ENST00000507740.1	+	20	3320	c.3084C>T	c.(3082-3084)atC>atT	p.I1028I	RIMS2_ENST00000406091.3_Silent_p.I1214I|RIMS2_ENST00000339750.2_Silent_p.I150I|RIMS2_ENST00000436393.2_Silent_p.I1232I|RIMS2_ENST00000262231.10_Silent_p.I1053I	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1276					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.I1028I(2)|p.I1214I(1)|p.I1232I(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGGTAGAAATCATCCGGGCCC	0.398000										HNSCC(12;0.0054)			25	64					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42079717	42079717	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:42079717G>A	ENST00000395925.3	-	7	1032	c.948C>T	c.(946-948)tcC>tcT	p.S316S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	316					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCGTGACCAAGGAGTTGGGAG	0.488000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				116	96					0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153493002	153493002	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:153493002G>A	ENST00000288670.9	+	22	3109	c.2742G>A	c.(2740-2742)aaG>aaA	p.K914K	FMNL2_ENST00000475377.2_Silent_p.K289K	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	914	FH2.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						ACTTGACCAAGAGAGAGTACA	0.488000													14	20					0	0	1	0	0
FIGNL1	63979	broad.mit.edu	37	7	50514070	50514070	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:50514070G>A	ENST00000419119.1	-	2	2469	c.916C>T	c.(916-918)Cag>Tag	p.Q306*	FIGNL1_ENST00000433017.1_Nonsense_Mutation_p.Q306*|FIGNL1_ENST00000395556.2_Nonsense_Mutation_p.Q306*|FIGNL1_ENST00000356889.4_Nonsense_Mutation_p.Q306*			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	306					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	p.Q306E(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTTTTTTGCTGATCTACCCAT	0.413000													59	65					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105167268	105167268	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:105167268C>T	ENST00000428173.2	+	18	3075	c.2772C>T	c.(2770-2772)ctC>ctT	p.L924L	NRK_ENST00000243300.9_Silent_p.L923L			Q7Z2Y5	NRK_HUMAN	Nik related kinase	923	Asp-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ATGTTGAACTCTATGATGCCA	0.423000										HNSCC(51;0.14)			24	7					0	0	1	0	0
LTB	4050	broad.mit.edu	37	6	31550151	31550151	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:31550151C>T	ENST00000429299.2	-	1	51	c.44G>A	c.(43-45)gGg>gAg	p.G15E	LTB_ENST00000446745.2_Missense_Mutation_p.G15E|LTB_ENST00000483972.1_Intron	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	15					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	GGAACCCCTCCCCTGGAGCCT	0.652000													37	78					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709333	176709333	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:176709333G>A	ENST00000367662.3	+	14	5315		c.e14+1			NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2						cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			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						AGGGACAGAGGTACAAACTTC	0.453000													17	33					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67871439	67871439	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:67871439G>A	ENST00000255674.6	-	3	566	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	RTTN_ENST00000437017.1_Missense_Mutation_p.R94W|RTTN_ENST00000454359.1_Missense_Mutation_p.R94W	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	94							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACATTAGACCGAAGCTTAGAT	0.423000													77	172					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547135	132547135	+	Silent	SNP	G	G	A	rs144787206	byFrequency	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:132547135G>A	ENST00000333577.4	+	48	8440	c.8331G>A	c.(8329-8331)caG>caA	p.Q2777Q	EP400_ENST00000389562.2_Silent_p.Q2740Q|EP400_ENST00000332482.4_Silent_p.Q2704Q|EP400_ENST00000330386.6_Silent_p.Q2660Q|EP400_ENST00000389561.2_Silent_p.Q2741Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2777	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacagcagc	0.592000													5	132					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154319181	154319181	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:154319181C>T	ENST00000368489.3	+	26	3209	c.3209C>T	c.(3208-3210)gCc>gTc	p.A1070V		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1056					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATCCTCTTTGCCATGCACAGC	0.532000													6	284					0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97271122	97271122	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:97271122G>A	ENST00000599854.1	-	15	2074	c.1607C>T	c.(1606-1608)tCc>tTc	p.S536F	KANSL3_ENST00000440133.1_Missense_Mutation_p.S443F|KANSL3_ENST00000431828.1_Missense_Mutation_p.S623F|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000487070.1_5'UTR	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	649																	GGAGATAAGGGACACCTTGAT	0.527000													41	75					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518712	108518712	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr13:108518712T>C	ENST00000375915.2	-	1	371	c.233A>G	c.(232-234)cAg>cGg	p.Q78R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	78	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgctgctgctgccgctgctg	0.677000													4	130					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18524227	18524227	+	Missense_Mutation	SNP	T	T	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:18524227T>A	ENST00000433979.1	+	12	1855	c.1739T>A	c.(1738-1740)cTt>cAt	p.L580H	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.L580H|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.L621H	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	580					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGGACTTGTCTTCCACTGTTT	0.363000													20	32					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45501783	45501783	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:45501783G>A	ENST00000359600.5	-	9	2288	c.2083C>T	c.(2083-2085)Caa>Taa	p.Q695*		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	695							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TCTTGGAGTTGGCTCAGGAGC	0.512000													55	82					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86482649	86482649	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:86482649G>A	ENST00000297814.2	-	13	3027	c.2884C>T	c.(2884-2886)Ctg>Ttg	p.L962L	KIF27_ENST00000334204.2_Intron|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000421734.3_RNA|RP11-575L7.4_ENST00000589233.1_RNA|KIF27_ENST00000413982.1_Silent_p.L896L|RP11-575L7.4_ENST00000586211.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	962					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCCTGTAACAGAGCCTCCTTC	0.408000													46	86					0	0	1	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89916703	89916703	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:89916703G>A	ENST00000548729.1	-	3	1917	c.1615C>T	c.(1615-1617)Cca>Tca	p.P539S	POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549035.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.P542S|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.P370S	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1																					CCTGAGTGTGGGTGAAAAATA	0.403000													100	36					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179631247	179631247	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:179631247C>T	ENST00000444136.1	+	15	2581	c.2331C>T	c.(2329-2331)atC>atT	p.I777I	TDRD5_ENST00000294848.8_Silent_p.I723I|TDRD5_ENST00000367614.1_Silent_p.I723I	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	774					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AGGATGAGATCCCCACTGGAA	0.388000													58	108					0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67399810	67399810	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:67399810C>T	ENST00000335385.3	-	7	934	c.847G>A	c.(847-849)Ggt>Agt	p.G283S		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	283					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TCTGTGGCACCCTTCAGCACA	0.622000													103	179					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:97869931A>T	ENST00000420699.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289000													4	20					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559080	129559080	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:129559080G>A	ENST00000422113.2	-	9	2966	c.2640C>T	c.(2638-2640)acC>acT	p.T880T	TMEM132D_ENST00000389441.4_Silent_p.T418T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	880						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGCTGGGGATGGTCTGCAAGT	0.567000													72	36					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70953088	70953088	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:70953088C>T	ENST00000551525.1	-	18	4770	c.4746G>A	c.(4744-4746)atG>atA	p.M1582I	PTPRB_ENST00000261266.5_Intron|PTPRB_ENST00000334414.6_Intron|PTPRB_ENST00000550358.1_Intron|PTPRB_ENST00000538708.1_Intron|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000550857.1_Intron			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCCTCTACTCCATTTGAGAAA	0.368000													112	48					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49651415	49651415	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:49651415C>T	ENST00000334186.4	+	24	3260	c.2911C>T	c.(2911-2913)Cgc>Tgc	p.R971C	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R962C	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	971	SAM 2.					cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GCCCCAATACCGCAGCTACTT	0.587000													75	130					0	0	1	0	0
WDR3	10885	broad.mit.edu	37	1	118486082	118486082	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:118486082C>T	ENST00000349139.4	+	11	1208	c.1161C>T	c.(1159-1161)aaC>aaT	p.N387N		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	387						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TGCAGAACAACCTGGTGGAAT	0.453000													22	45					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104164796	104164796	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:104164796C>T	ENST00000020673.5	-	14	2940	c.2414G>A	c.(2413-2415)gGg>gAg	p.G805E	PSD_ENST00000406432.1_Missense_Mutation_p.G805E	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	805	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AAGGGCCTTCCCAGGCTTGTA	0.607000													22	70					0	0	1	0	0
TRAV18	28665	broad.mit.edu	37	14	22471689	22471689	+	RNA	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:22471689C>T	ENST00000390446.3	+	0	217																											GAGGGCAGCTCTGACATTAAA	0.443000													48	85					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161162403	161162403	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:161162403C>T	ENST00000308192.9	+	17	2142	c.2079C>T	c.(2077-2079)gtC>gtT	p.V693V		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	693	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATTATGTGGTCGCTGACCGGA	0.473000													58	104					0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1255463	1255463	+	Silent	SNP	G	G	A	rs67578903		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:1255463G>A	ENST00000310581.5	-	14	3153	c.3096C>T	c.(3094-3096)ttC>ttT	p.F1032F	TERT_ENST00000334602.6_Silent_p.F969F|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1032	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGACGCGCAGGAAAAATGTGG	0.567000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				24	45					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106968230	106968230	+	Silent	SNP	A	A	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:106968230A>C	ENST00000369066.3	+	2	2410	c.1923A>C	c.(1921-1923)acA>acC	p.T641T		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	641							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GCAGCAGAACACCCCTGATGG	0.527000													50	106					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784028	9784028	+	Silent	SNP	T	T	C	rs2227841	byFrequency	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:9784028T>C	ENST00000304374.2	+	1	771	c.375T>C	c.(373-375)acT>acC	p.T125T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	125					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				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)	TGTGCTCCACTGCCTCCATCC	0.622000													7	64					0	0	1	0	0
CCNY	219771	broad.mit.edu	37	10	35858073	35858073	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:35858073G>A	ENST00000374704.4	+	10	1181	c.1001G>A	c.(1000-1002)cGg>cAg	p.R334Q	CCNY_ENST00000374706.1_Missense_Mutation_p.R280Q|CCNY_ENST00000265375.9_Missense_Mutation_p.R280Q|CCNY_ENST00000339497.5_Missense_Mutation_p.R309Q	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	334					cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						ACTCTGCCCCGGTGGTCCCCA	0.582000													21	29					0	0	1	0	0
TMEM175	84286	broad.mit.edu	37	4	952220	952220	+	Missense_Mutation	SNP	A	A	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:952220A>C	ENST00000264771.4	+	11	1636	c.1451A>C	c.(1450-1452)cAc>cCc	p.H484P	TMEM175_ENST00000508204.1_Missense_Mutation_p.H402P|TMEM175_ENST00000515740.1_Missense_Mutation_p.H368P	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	484						integral to membrane		p.H484P(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGGCCCGAACACCCCCCGCCA	0.736000													8	29					0	0	1	0	0
C15orf40	123207	broad.mit.edu	37	15	83674425	83674425	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:83674425T>C	ENST00000304177.5	-	4	419	c.305A>G	c.(304-306)aAg>aGg	p.K102R	C15orf40_ENST00000565712.1_Missense_Mutation_p.K44R|C15orf40_ENST00000513601.2_Missense_Mutation_p.K129R|C15orf40_ENST00000538348.2_Intron|C15orf40_ENST00000451195.3_Intron|RP11-382A20.5_ENST00000566841.1_RNA	NM_001160114.1|NM_144597.2	NP_001153586.1|NP_653198.2	Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40	102										large_intestine(3)|lung(2)|skin(1)	6						CTTCACCACCTTTTCACGAGA	0.393000													6	688					0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4619828	4619828	+	Silent	SNP	A	A	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:4619828A>C	ENST00000269260.2	+	5	515	c.282A>C	c.(280-282)ccA>ccC	p.P94P	ARRB2_ENST00000575877.1_Silent_p.P94P|ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000381488.6_Silent_p.P79P	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	94					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGCCCAACCCACCCCGGCCCC	0.667000													8	39					0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48370880	48370880	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:48370880G>A	ENST00000395702.2	+	2	575	c.348G>A	c.(346-348)caG>caA	p.Q116Q	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Silent_p.Q9Q			Q96MN9	ZN488_HUMAN	zinc finger protein 488	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						TGGATGCTCAGGCCCAGGAGA	0.657000													22	44					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154794589	154794589	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:154794589G>A	ENST00000271915.3	-	2	1320	c.1005C>T	c.(1003-1005)atC>atT	p.I335I	KCNN3_ENST00000361147.4_Silent_p.I30I|KCNN3_ENST00000358505.2_Silent_p.I22I	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	340						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TGTGGTAGGCGATGATCAAGC	0.552000													24	72					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61304954	61304954	+	Nonstop_Mutation	SNP	T	T	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:61304954T>C	ENST00000341074.5	-	8	1287	c.1172A>G	c.(1171-1173)tAg>tGg	p.*391W	SERPINB4_ENST00000356424.6_Nonstop_Mutation_p.*339W	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TAATTGCATCTATGGGGATGA	0.388000													117	189					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176838117	176838117	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:176838117C>T	ENST00000367654.2	-	22	3547	c.3534G>A	c.(3532-3534)ggG>ggA	p.G1178G	ASTN1_ENST00000361833.2_Silent_p.G1170G|ASTN1_ENST00000424564.2_Silent_p.G1170G|ASTN1_ENST00000367657.3_Silent_p.G1170G			O14525	ASTN1_HUMAN	astrotactin 1	1178					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCTGCTCCTTCCCACTAGTGT	0.438000													45	85					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116339798	116339798	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:116339798G>A	ENST00000397752.3	+	2	860	c.660G>A	c.(658-660)aaG>aaA	p.K220K	MET_ENST00000436117.2_Silent_p.K220K|MET_ENST00000318493.6_Silent_p.K220K	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	220	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GAAGGCTAAAGGAAACGAAAG	0.388000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				116	305					0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120005612	120005612	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:120005612C>T	ENST00000354888.5	+	4	1354	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	STEAP3_ENST00000450943.2_Missense_Mutation_p.R284C|STEAP3_ENST00000393110.2_Missense_Mutation_p.R294C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393106.2_Missense_Mutation_p.R284C|STEAP3_ENST00000393108.2_Missense_Mutation_p.R284C|STEAP3_ENST00000409811.1_Missense_Mutation_p.R284C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R284C|STEAP3_ENST00000393107.2_Missense_Mutation_p.R284C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	284	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCAGCTGCGGCGCGGCACCAA	0.682000													4	116					0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36109349	36109349	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:36109349C>T	ENST00000203166.5	+	11	892	c.867C>T	c.(865-867)tcC>tcT	p.S289S	HAUS5_ENST00000379045.2_Intron	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	289					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CCCTGCCGTCCATGGTTCATC	0.632000													56	95					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40392042	40392042	+	Silent	SNP	T	T	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:40392042T>C	ENST00000406785.1	-	5	2202	c.2013A>G	c.(2011-2013)ggA>ggG	p.G671G	SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.G699G|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Silent_p.G702G|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Silent_p.G671G|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Silent_p.G707G|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.G671G|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.G707G|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.G702G|SLC8A1_ENST00000542024.1_Silent_p.G671G|SLC8A1_ENST00000406391.2_Silent_p.G671G			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	707					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGGTGTGCTCTCCCAGGATGG	0.507000													93	164					0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	334816	334816	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:334816C>T	ENST00000400256.3	-	6	1949	c.1742G>A	c.(1741-1743)gGc>gAc	p.G581D		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	581	Collagen-like 3.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCCAGGAGGGCCGGGGGGGCC	0.697000													16	19					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141773453	141773453	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:141773453C>T	ENST00000389484.3	-	13	2973	c.2002G>A	c.(2002-2004)Gaa>Aaa	p.E668K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	668					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATCTATTTCATCTTCCTCC	0.408000										TSP Lung(27;0.18)			73	123					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16975087	16975087	+	Splice_Site	SNP	A	A	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:16975087A>C	ENST00000377833.4	-	40	6188	c.6124_splice	c.e40+1	p.D2041_splice		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2041	CUB 14.				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)	TGTTCTCACCATCTCGTATCA	0.448000													25	83					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96009900	96009900	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:96009900C>T	ENST00000297954.4	+	7	1618	c.1618C>T	c.(1618-1620)Cag>Tag	p.Q540*	WNK2_ENST00000349097.3_Nonsense_Mutation_p.Q152*|WNK2_ENST00000427277.2_Nonsense_Mutation_p.Q152*|WNK2_ENST00000395477.2_Nonsense_Mutation_p.Q540*|WNK2_ENST00000395475.2_Nonsense_Mutation_p.Q526*|WNK2_ENST00000356055.3_5'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	540					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGCCTTGATCCAGTGGCGGCG	0.632000													12	24					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166904178	166904178	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:166904178G>A	ENST00000423058.2	-	8	1146	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.R377*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R377*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R377*	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	377			R -> Q (in GEFS+2; dbSNP:rs121917957).			voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R377*(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTCATTAGTCGAAACAAGGAC	0.388000													69	118					0	0	1	0	0
CD300E	342510	broad.mit.edu	37	17	72610074	72610074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:72610074G>A	ENST00000392619.1	-	3	603	c.568C>T	c.(568-570)Caa>Taa	p.Q190*	CD300E_ENST00000328630.3_Nonsense_Mutation_p.Q163*|CD300E_ENST00000426295.2_Nonsense_Mutation_p.Q204*	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	163						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CCTGAATTTTGGGTCAACACC	0.622000													10	14					0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39036423	39036423	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:39036423C>T	ENST00000167588.3	-	4	762	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	241	Coil 2.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TGCCTCATTTCATTCATGATG	0.473000													69	98					0	0	1	0	0
LTB4R2	56413	broad.mit.edu	37	14	24779948	24779948	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:24779948C>T	ENST00000528054.1	+	1	1788	c.171C>T	c.(169-171)ttC>ttT	p.F57F	LTB4R2_ENST00000543919.1_Silent_p.F26F|CIDEB_ENST00000258807.5_5'UTR|LTB4R2_ENST00000533293.1_Silent_p.F26F|CIDEB_ENST00000336557.5_5'UTR			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	57					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GCACAGCCTTCCTGCTGCTGG	0.701000													53	109					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582000													5	217					0	0	1	0	0
TMEM177	80775	broad.mit.edu	37	2	120438869	120438869	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:120438869G>A	ENST00000424086.1	+	2	913	c.440G>A	c.(439-441)cGt>cAt	p.R147H	TMEM177_ENST00000272521.6_Missense_Mutation_p.R147H|TMEM177_ENST00000401466.1_Missense_Mutation_p.R147H|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000409951.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	147						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					ACCTTGTCCCGTGAAGCCCAG	0.622000													5	382					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581716	140581716	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:140581716G>A	ENST00000354757.3	+	1	2369	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q	PCDHB11_ENST00000536699.1_Missense_Mutation_p.R425Q	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		790					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCACCTTTCGAAATAGCTTT	0.318000													22	41					0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52609991	52609991	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:52609991G>A	ENST00000591504.1	-	3	306	c.32C>T	c.(31-33)cCc>cTc	p.P11L	CCDC68_ENST00000432185.1_Missense_Mutation_p.P11L|CCDC68_ENST00000337363.4_Missense_Mutation_p.P11L	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	11										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		ATCCCTTGGGGGAATTTCTGT	0.388000													39	88					0	0	1	0	0
IL2RG	3561	broad.mit.edu	37	X	70330749	70330749	+	Silent	SNP	A	A	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:70330749A>G	ENST00000374202.2	-	2	358	c.267T>C	c.(265-267)taT>taC	p.Y89Y	IL2RG_ENST00000456850.2_Intron	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	89			Y -> C (in XSCID).		immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	TCTCATACCAATAATGCAGAG	0.522000									Severe Combined Immunodeficiency, X-linked				3	36					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49695008	49695008	+	Silent	SNP	C	C	T	rs140023119	byFrequency	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:49695008C>T	ENST00000296452.4	+	5	8133	c.8019C>T	c.(8017-8019)tcC>tcT	p.S2673S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2673					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GTGACTGCTCCGTGCAGACGG	0.612000													37	98					0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52497581	52497581	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:52497581G>A	ENST00000602063.1	-	6	1097	c.748C>T	c.(748-750)Cat>Tat	p.H250Y	ZNF615_ENST00000598071.1_Missense_Mutation_p.H261Y|ZNF615_ENST00000376716.5_Missense_Mutation_p.H250Y|ZNF615_ENST00000594083.1_Missense_Mutation_p.H261Y|ZNF615_ENST00000391795.3_Missense_Mutation_p.H255Y			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GTTCTCTGATGGTCCATTAGT	0.378000													65	154					0	0	1	0	0
CLIC5	53405	broad.mit.edu	37	6	45922915	45922915	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:45922915G>A	ENST00000185206.6	-	2	759	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	CLIC5_ENST00000544153.1_Silent_p.L44L|CLIC5_ENST00000339561.6_Silent_p.L44L	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	203					female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						ACTCCTTTCAGCCAGAGGATC	0.483000													37	101					0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	135975765	135975765	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:135975765G>A	ENST00000393160.3	-	17	2647	c.2294C>T	c.(2293-2295)aCc>aTc	p.T765I	RALGDS_ENST00000372062.3_Missense_Mutation_p.T791I|RALGDS_ENST00000393157.3_Missense_Mutation_p.T819I|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.T891I|RALGDS_ENST00000372047.3_Missense_Mutation_p.T808I|RALGDS_ENST00000372050.3_Missense_Mutation_p.T820I	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	820	Poly-Ser.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ATCTTGGCTGGTCACCTGCAT	0.612000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								118	197					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31434771	31434771	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:31434771C>T	ENST00000389202.2	+	25	3007	c.2958C>T	c.(2956-2958)gcC>gcT	p.A986A		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	986					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCATGGAGGCCCCATCTCAGG	0.542000													50	96					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32029367	32029367	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:32029367G>A	ENST00000375244.3	-	21	7500	c.7299C>T	c.(7297-7299)gtC>gtT	p.V2433V	TNXB_ENST00000375247.2_Silent_p.V2433V			P22105	TENX_HUMAN	tenascin XB	2493	Fibronectin type-III 16.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCCTGGGGGACGGTCCAGG	0.687000													96	90					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823774	38823774	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:38823774G>A	ENST00000303592.3	-	2	622	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	122					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					AAGGCACCCAGGAAGCCGTTC	0.706000													42	117					0	0	1	0	0
WNT10B	7480	broad.mit.edu	37	12	49360170	49360170	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:49360170C>T	ENST00000301061.4	-	5	1226	c.878G>A	c.(877-879)gGa>gAa	p.G293E	WNT10B_ENST00000407467.1_3'UTR|WNT10B_ENST00000403957.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	293					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	p.G293V(1)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CTGGAAGGCTCCAGAATTGCG	0.637000													97	180					0	0	1	0	0
AMOTL2	51421	broad.mit.edu	37	3	134089703	134089703	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:134089703C>T	ENST00000514516.1	-	2	925	c.747G>A	c.(745-747)caG>caA	p.Q249Q	AMOTL2_ENST00000422605.2_Silent_p.Q191Q|AMOTL2_ENST00000249883.5_Silent_p.Q191Q|AMOTL2_ENST00000513145.1_Silent_p.Q191Q|AMOTL2_ENST00000511759.1_Intron	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	191										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGGGGCCCTGCTGGTTGCGGG	0.662000													4	164					0	0	1	0	0
MARCH11	441061	broad.mit.edu	37	5	16091129	16091129	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:16091129G>A	ENST00000332432.8	-	3	954	c.755C>T	c.(754-756)tCc>tTc	p.S252F	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	252						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						TAAGAACAGGGATCCTAGGAT	0.453000													6	15					0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115829096	115829096	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:115829096G>A	ENST00000369512.2	-	3	489	c.321C>T	c.(319-321)gtC>gtT	p.V107V	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	107					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CAGCACCACCGACCTCGAAGT	0.587000													21	43					0	0	1	0	0
KIF25	3834	broad.mit.edu	37	6	168439361	168439361	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:168439361T>G	ENST00000443060.2	+	6	837	c.446T>G	c.(445-447)gTg>gGg	p.V149G	KIF25_ENST00000351261.3_Missense_Mutation_p.V149G|KIF25_ENST00000354419.2_Missense_Mutation_p.V149G			Q9UIL4	KIF25_HUMAN	kinesin family member 25	149	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AAGCGTGAGGTGGTGACAGCC	0.542000													41	92					0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77816915	77816915	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:77816915C>T	ENST00000334306.2	-	1	2087	c.2088G>A	c.(2086-2088)cgG>cgA	p.R696R		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	696																	TGACATTTACCCGAGAAGCCA	0.537000													201	415					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119914768	119914768	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:119914768C>T	ENST00000331113.4	+	1	1047	c.82C>T	c.(82-84)Ccg>Tcg	p.P28S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	28					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GGGGCCTATGCCGGCTCCCCC	0.632000													7	679					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120906864	120906864	+	Splice_Site	SNP	T	T	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:120906864T>A	ENST00000310396.5	+	20	3100		c.e20+2			NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TTTGAAGAGGTAAATGTCTGC	0.343000													64	79					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579419	82579419	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:82579419C>T	ENST00000423517.2	-	6	10822	c.10485G>A	c.(10483-10485)ggG>ggA	p.G3495G	PCLO_ENST00000437081.1_Silent_p.G215G|PCLO_ENST00000333891.8_Silent_p.G3495G	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3426					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACCATATTTCCCTACACGAG	0.458000													46	143					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	33990609	33990609	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:33990609G>A	ENST00000374181.3	-	10	2897	c.2728C>T	c.(2728-2730)Cat>Tat	p.H910Y	GRM4_ENST00000545715.1_3'UTR|GRM4_ENST00000535756.1_Missense_Mutation_p.H777Y|GRM4_ENST00000374177.3_Missense_Mutation_p.H794Y|GRM4_ENST00000538487.1_Missense_Mutation_p.H910Y|GRM4_ENST00000455714.2_Missense_Mutation_p.H770Y|GRM4_ENST00000544773.1_Missense_Mutation_p.H741Y	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	910					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TAGATTGCATGGTTGGTGTAA	0.602000													38	113					0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100157455	100157455	+	Translation_Start_Site	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:100157455G>A	ENST00000423126.2	+	0	118				CYP46A1_ENST00000261835.3_Missense_Mutation_p.D53N			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1						bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TTGGAAAAAGGATGAGGTTGG	0.502000													78	149					0	0	1	0	0
NTF4	4909	broad.mit.edu	37	19	49564946	49564946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:49564946C>T	ENST00000301411.3	-	2	449	c.309G>A	c.(307-309)tgG>tgA	p.W103*	NTF4_ENST00000593537.1_Nonsense_Mutation_p.W103*|NTF4_ENST00000451356.2_Intron	NM_006179.4	NP_006170.1	P34130	NTF4_HUMAN	neurotrophin 4	103					adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GGTCTGTCACCCAGCCACTGA	0.692000													39	79					0	0	1	0	0
IGHM	3507	broad.mit.edu	37	14	106321157	106321157	+	RNA	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:106321157G>A	ENST00000390559.2	-	0	831																											GTGGCATTGGGGTGGCTCTCG	0.602000													28	43					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16374522	16374522	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:16374522C>T	ENST00000375679.4	+	5	592	c.481C>T	c.(481-483)Ctc>Ttc	p.L161F		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCAGCACCCTCTTCCTCGG	0.622000													39	75					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17157555	17157555	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:17157555G>A	ENST00000377833.4	-	7	700	c.635C>T	c.(634-636)tCc>tTc	p.S212F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	212					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)	GTCATATTTGGATGCACACTG	0.567000													46	87					0	0	1	0	0
EXD2	55218	broad.mit.edu	37	14	69695553	69695553	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:69695553C>T	ENST00000409018.3	+	3	482	c.354C>T	c.(352-354)gcC>gcT	p.A118A	EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_5'UTR|EXD2_ENST00000409949.1_5'UTR|EXD2_ENST00000409675.1_5'UTR|EXD2_ENST00000409242.1_5'UTR|EXD2_ENST00000409014.1_5'UTR|EXD2_ENST00000312994.5_Silent_p.A118A	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	0	3'-5' exonuclease.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						AAGGCAAAGCCAGCCCTCTGT	0.483000													19	20					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390208	197390208	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:197390208G>A	ENST00000367400.3	+	6	1385	c.1250G>A	c.(1249-1251)gGg>gAg	p.G417E	CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.G348E|CRB1_ENST00000367399.2_Missense_Mutation_p.G305E|CRB1_ENST00000538660.1_Missense_Mutation_p.G417E|CRB1_ENST00000543483.1_Missense_Mutation_p.G116E	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	417	EGF-like 10; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AACTTGCCTGGGAATTATACT	0.413000													58	132					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13727654	13727654	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:13727654G>A	ENST00000265104.4	-	70	12099	c.11995C>T	c.(11995-11997)Ctt>Ttt	p.L3999F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3999					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GATCTAATAAGGAGAAGACGT	0.363000									Kartagener syndrome				39	92					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139323097	139323097	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:139323097G>A	ENST00000395297.1	-	3	314	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	48										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCTGCCCAGCGATGGAGGCAC	0.552000										HNSCC(54;0.14)			27	66					0	0	1	0	0
GPR114	221188	broad.mit.edu	37	16	57600568	57600568	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:57600568G>A	ENST00000340339.4	+	7	1127	c.604G>A	c.(604-606)Ggg>Agg	p.G202R	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.G202R	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	202	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						ACAGCCCTGGGGGGGCTGGAG	0.602000													65	132					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153223312	153223312	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:153223312G>A	ENST00000310441.7	-	12	3020	c.2054C>T	c.(2053-2055)tCg>tTg	p.S685L	HCFC1_ENST00000354233.3_Missense_Mutation_p.S616L|HCFC1_ENST00000369984.4_Missense_Mutation_p.S685L	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	685	Interaction with SIN3A.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGACCACCGACATCACTTT	0.532000													59	32					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51742900	51742900	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:51742900C>T	ENST00000262262.4	+	7	1073	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F	CD33_ENST00000421133.2_Missense_Mutation_p.S224F|CD33_ENST00000600557.1_3'UTR	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	351					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	ATGAATCCTTCCAAGGACACC	0.547000													15	45					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194061864	194061864	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:194061864C>T	ENST00000323830.3	-	2	1657	c.1568G>A	c.(1567-1569)tGg>tAg	p.W523*	CPN2_ENST00000429275.1_Nonsense_Mutation_p.W523*	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	523					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CCTCAGGTCCCACTCCTGACT	0.642000													26	34					0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913306	6913306	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:6913306G>A	ENST00000299459.2	-	1	524	c.426C>T	c.(424-426)gtC>gtT	p.V142V		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTGCCAGCTGGACACACACTT	0.517000													107	107					0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3127585	3127585	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:3127585G>A	ENST00000380266.3	-	2	2453	c.2132C>T	c.(2131-2133)tCc>tTc	p.S711F	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	711	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GAGATCCCTGGAGCCATAGCA	0.562000													86	178					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108778663	108778663	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:108778663C>T	ENST00000232603.5	-	12	1103	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K	MORC1_ENST00000483760.1_Missense_Mutation_p.E341K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	341					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTTTGTTTCTCTTTAAGATTC	0.368000													13	32					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96054676	96054676	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:96054676C>T	ENST00000297954.4	+	22	5134	c.5134C>T	c.(5134-5136)Cag>Tag	p.Q1712*	WNK2_ENST00000349097.3_Nonsense_Mutation_p.Q1324*|WNK2_ENST00000427277.2_Nonsense_Mutation_p.Q1287*|WNK2_ENST00000395477.2_Nonsense_Mutation_p.Q1675*|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_Nonsense_Mutation_p.Q39*			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1712					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CAGCGTCCCCCAGGTAAGGGC	0.562000													96	175					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30260276	30260276	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:30260276C>T	ENST00000359358.4	-	7	1882	c.1444G>A	c.(1444-1446)Gga>Aga	p.G482R		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	482						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ACATATTCTCCATTGTGTACA	0.408000													69	148					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61898843	61898843	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:61898843C>T	ENST00000280772.1	-	24	2808	c.2617G>A	c.(2617-2619)Gaa>Aaa	p.E873K	ANK3_ENST00000503366.1_Missense_Mutation_p.E874K|ANK3_ENST00000460468.1_Missense_Mutation_p.E37K|ANK3_ENST00000373827.2_Missense_Mutation_p.E867K|ANK3_ENST00000355288.2_Missense_Mutation_p.E7K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	873					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATTGCATCTTCACCTGCAGAT	0.473000													84	183					0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17288788	17288788	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:17288788C>T	ENST00000331428.5	-	2	278	c.176G>A	c.(175-177)cGa>cAa	p.R59Q		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	59						integral to membrane|plasma membrane		p.R59Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ATTAGCTTTTCGATAAATTTC	0.368000													47	82					0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183776233	183776233	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:183776233G>A	ENST00000318351.1	+	6	612	c.578G>A	c.(577-579)gGc>gAc	p.G193D		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	193						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ATGCTGCTGGGCATGGACAAG	0.587000													16	54					0	0	1	0	0
SCLT1	132320	broad.mit.edu	37	4	129880893	129880893	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:129880893G>A	ENST00000281142.5	-	12	1412	c.909C>T	c.(907-909)acC>acT	p.T303T	SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	303						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GTGTATTTTCGGTTCTTAATT	0.353000													53	110					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74825297	74825297	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:74825297C>T	ENST00000256362.4	+	2	2052	c.1811C>T	c.(1810-1812)tCc>tTc	p.S604F		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	604					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GGAGGGCCTTCCAGAGAGGGG	0.662000													56	90					0	0	1	0	0
FABP6	2172	broad.mit.edu	37	5	159659148	159659148	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:159659148C>T	ENST00000393980.4	+	5	404	c.258C>T	c.(256-258)atC>atT	p.I86I	FABP6_ENST00000393982.1_Silent_p.I86I|FABP6_ENST00000402432.3_Silent_p.I37I	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	37					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity			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)			ACTTCAAGATCGTCACGGAGG	0.542000													19	42					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116403126	116403126	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:116403126C>A	ENST00000397752.3	+	11	2587	c.2387C>A	c.(2386-2388)tCa>tAa	p.S796*	MET_ENST00000436117.2_Missense_Mutation_p.Q763K|MET_ENST00000318493.6_Nonsense_Mutation_p.S814*	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	796	IPT/TIG 3.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CGCTCTAATTCAGAGATAATC	0.413000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				106	107					7.82945e-61	8.07171e-61	1	1	0
DSP	1832	broad.mit.edu	37	6	7583283	7583283	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:7583283A>G	ENST00000379802.3	+	24	6129	c.5788A>G	c.(5788-5790)Aca>Gca	p.T1930A	DSP_ENST00000418664.2_Missense_Mutation_p.T1331A	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1930	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACAGTTAGAAACAGAACGCTC	0.507000													57	155					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566782	4566782	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:4566782C>T	ENST00000360213.1	+	1	362	c.362C>T	c.(361-363)gCt>gTt	p.A121V		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTGCCATGGCTTTTGATCGC	0.537000													104	101					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16672917	16672917	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:16672917G>A	ENST00000513610.1	-	37	5644	c.5190C>T	c.(5188-5190)atC>atT	p.I1730I	MYO10_ENST00000515803.1_Silent_p.I1069I|MYO10_ENST00000427430.2_Silent_p.I1087I|MYO10_ENST00000274203.9_Silent_p.I1087I|MYO10_ENST00000505695.1_Silent_p.I1069I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1730	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCAGGCCTCGGATCAGCTTCT	0.557000													20	29					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29102145	29102145	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:29102145C>T	ENST00000261590.8	+	6	832	c.623C>T	c.(622-624)cCt>cTt	p.P208L	DSG2_ENST00000585206.1_Missense_Mutation_p.P208L	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	208	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CCTGCTTATCCTCCAGTGTTC	0.378000													31	76					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128297904	128297904	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:128297904C>T	ENST00000368227.3	-	28	4284	c.3918G>A	c.(3916-3918)gaG>gaA	p.E1306E	PTPRK_ENST00000368226.4_Silent_p.E1289E|PTPRK_ENST00000368207.3_Silent_p.E1321E|PTPRK_ENST00000368215.3_Silent_p.E1288E|PTPRK_ENST00000368213.5_Silent_p.E1295E|PTPRK_ENST00000532331.1_Silent_p.E1311E|PTPRK_ENST00000368210.3_Silent_p.E1307E			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1288	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GCATCCCTTCCTCTGGCCAGT	0.378000													20	54					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron	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					5	123					0	0	1	0	0
PPP1R18	170954	broad.mit.edu	37	6	30653110	30653110	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:30653110G>A	ENST00000274853.3	-	1	2562	c.686C>T	c.(685-687)gCc>gTc	p.A229V	PPP1R18_ENST00000399199.3_Missense_Mutation_p.A229V|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	229						cytoplasm|cytoskeleton	actin binding										CTTCTGGTAGGCAGATTCCCC	0.542000													7	833					0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39675003	39675003	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:39675003C>T	ENST00000254043.3	-	1	3662	c.77G>A	c.(76-78)gGg>gAg	p.G26E	KRT15_ENST00000393976.2_Missense_Mutation_p.G26E|KRT15_ENST00000393974.3_5'UTR	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	26	Gly-rich.|Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				GCCACCTCCCCCAGCCAGGAG	0.597000													111	151					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823673	38823673	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:38823673G>A	ENST00000303592.3	-	2	723	c.465C>T	c.(463-465)gtC>gtT	p.V155V		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	155					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CGATGGACTGGACCACCACAG	0.622000													40	80					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201039511	201039511	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:201039511G>C	ENST00000362061.3	-	17	2475	c.2249C>G	c.(2248-2250)cCt>cGt	p.P750R	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P750R	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	750					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGGGATCTCAGGCTCATCTTC	0.587000													57	124					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276474	186276474	+	Silent	SNP	T	T	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:186276474T>C	ENST00000445192.2	+	7	1668	c.1623T>C	c.(1621-1623)acT>acC	p.T541T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T498T|PRG4_ENST00000367483.4_Silent_p.T500T|PRG4_ENST00000367485.4_Silent_p.T448T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	541	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACTACCAAGTCTG	0.637000													11	213					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35068320	35068320	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:35068320C>T	ENST00000382002.5	-	9	1279	c.853G>A	c.(853-855)Gag>Aag	p.E285K	PRLR_ENST00000513753.1_Missense_Mutation_p.E285K|PRLR_ENST00000231423.3_Missense_Mutation_p.E285K|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.E184K|PRLR_ENST00000342362.5_Missense_Mutation_p.E184K|PRLR_ENST00000542609.1_Missense_Mutation_p.E285K|PRLR_ENST00000310101.5_Missense_Mutation_p.E285K	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	285					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTACTTACCTCCAACAGATGA	0.433000													55	124					0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120657	47120657	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:47120657G>A	ENST00000298283.3	-	1	371	c.283C>T	c.(283-285)Cat>Tat	p.H95Y		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	95					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CGGATGACATGGAAGGGATGG	0.547000													31	84					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599565	179599565	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:179599565C>T	ENST00000589042.1	-	51	15310	c.15086G>A	c.(15085-15087)cGa>cAa	p.R5029Q	TTN_ENST00000591111.1_Missense_Mutation_p.R4712Q|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R3785Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4712	Ig-like 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R3785Q(1)		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)			AAAATACATTCGGACTGTGTT	0.418000													35	71					0	0	1	0	0
ESM1	11082	broad.mit.edu	37	5	54277896	54277896	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:54277896C>T	ENST00000381405.4	-	2	525	c.380G>A	c.(379-381)gGa>gAa	p.G127E	ESM1_ENST00000598310.1_Intron|ESM1_ENST00000381403.4_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	127					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			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)			CAGGCATTTTCCCGTCCCCCT	0.498000													62	101					0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307447	39307447	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:39307447T>G	ENST00000541347.1	-	2	793	c.554A>C	c.(553-555)gAa>gCa	p.E185A	CX3CR1_ENST00000399220.2_Missense_Mutation_p.E185A|CX3CR1_ENST00000542107.1_Missense_Mutation_p.E185A|CX3CR1_ENST00000358309.3_Missense_Mutation_p.E217A	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	185					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GGGCCAGATTTCCTGGAGGAC	0.507000													84	186					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77267115	77267115	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:77267115C>T	ENST00000341514.6	+	9	2271	c.2116C>T	c.(2116-2118)Ctt>Ttt	p.L706F	ATP7A_ENST00000343533.5_Missense_Mutation_p.L706F|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	706			L -> R (in MNKD).		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			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						GCGCCAGATTCTTCCAGGATT	0.348000													137	65					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196695661	196695661	+	Silent	SNP	G	G	A	rs56035657	by1000genomes	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:196695661G>A	ENST00000367429.4	+	13	2175	c.1935G>A	c.(1933-1935)acG>acA	p.T645T		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	645	Sushi 11.				complement activation, alternative pathway	extracellular space		p.T645T(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGGAAAAAACGAAAGAAGAAT	0.353000													46	61					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13724870	13724870	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:13724870G>A	ENST00000279593.3	-	10	2248	c.2039C>T	c.(2038-2040)cCt>cTt	p.P680L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	680					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAAGCGGAAAGGGGGTGAGAA	0.483000													19	33					0	0	1	0	0
ZNF350	59348	broad.mit.edu	37	19	52469210	52469210	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:52469210G>A	ENST00000243644.4	-	5	723	c.496C>T	c.(496-498)Cat>Tat	p.H166Y	HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	166					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TGGTTAGCATGAAGAAAGGAG	0.373000													67	159					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122286277	122286277	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:122286277G>A	ENST00000263710.4	-	4	743	c.354C>T	c.(352-354)atC>atT	p.I118I	CLASP1_ENST00000409078.3_Silent_p.I118I|CLASP1_ENST00000541377.1_Silent_p.I118I|CLASP1_ENST00000455322.2_Silent_p.I118I|CLASP1_ENST00000397587.3_Silent_p.I118I	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	118					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTTGATCCATGATCTTTAGCA	0.498000													148	231					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61511316	61511316	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:61511316C>T	ENST00000257215.5	+	20	2600	c.2484C>T	c.(2482-2484)ccC>ccT	p.P828P		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	828					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTGCCATCCCCGAGGAAAACC	0.672000													214	517					0	0	1	0	0
FOXI2	399823	broad.mit.edu	37	10	129536042	129536042	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:129536042G>A	ENST00000388920.4	+	1	544	c.505G>A	c.(505-507)Gac>Aac	p.D169N		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	169					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				CGACGAGGACGACCCAGGTAA	0.662000													19	19					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57087839	57087839	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:57087839G>A	ENST00000532437.1	-	2	753	c.442C>T	c.(442-444)Cct>Tct	p.P148S	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P148S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	148	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GGGCGGAAAGGGGCAGGGGCC	0.662000													62	128					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3673609	3673609	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:3673609C>T	ENST00000344754.4	-	14	3677	c.3678G>A	c.(3676-3678)ctG>ctA	p.L1226L	SIGLEC1_ENST00000202578.4_Silent_p.L1226L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1226	Ig-like C2-type 12.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTCGCAGCTCCAGGCGCAGGG	0.711000													48	88					0	0	1	0	0
TXNL1	9352	broad.mit.edu	37	18	54281811	54281811	+	Silent	SNP	A	A	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:54281811A>G	ENST00000217515.6	-	6	783	c.579T>C	c.(577-579)taT>taC	p.Y193Y	TXNL1_ENST00000590954.1_Silent_p.Y193Y|TXNL1_ENST00000540155.1_Silent_p.Y70Y	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	193	PITH.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		AAATTTTTACATATTTAGGGC	0.348000													14	31					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137212	40137212	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:40137212C>T	ENST00000278198.2	-	2	2594	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	LRRC4C_ENST00000530763.1_Missense_Mutation_p.E211K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E211K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.E211K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	211					regulation of axonogenesis	integral to membrane	protein binding	p.E211*(1)		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)				TTAGGGATTTCCCGAAGGTTG	0.453000													43	141					0	0	1	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99621447	99621447	+	Silent	SNP	C	C	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:99621447C>A	ENST00000324306.6	+	2	552	c.318C>A	c.(316-318)tcC>tcA	p.S106S	ZKSCAN1_ENST00000535170.1_Intron|ZKSCAN1_ENST00000426572.1_Silent_p.S70S	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	106	SCAN box.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGTTTCTTTCCATCCTGCCCA	0.532000													63	168					4.45325e-31	4.55263e-31	1	1	0
TSHZ1	10194	broad.mit.edu	37	18	72999452	72999452	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:72999452C>T	ENST00000322038.5	+	2	2539	c.1955C>T	c.(1954-1956)gCc>gTc	p.A652V	TSHZ1_ENST00000580243.1_Missense_Mutation_p.A697V	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	697						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGCCCTGAGGCCGAGACTGGG	0.557000													33	77					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131339673	131339673	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:131339673C>T	ENST00000372739.3	+	8	1083	c.973C>T	c.(973-975)Cac>Tac	p.H325Y	SPTAN1_ENST00000358161.5_Missense_Mutation_p.H325Y|SPTAN1_ENST00000372731.4_Missense_Mutation_p.H325Y	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	325					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCAACAGTCCCACCCTCTGAG	0.507000													52	102					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189859466	189859466	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:189859466C>T	ENST00000304636.3	+	20	1534	c.1364C>T	c.(1363-1365)cCa>cTa	p.P455L	COL3A1_ENST00000317840.5_Missense_Mutation_p.P455L	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	455	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			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)	GCTGGTATTCCAGGTGTTCCA	0.403000													38	66					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7646249	7646249	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:7646249C>T	ENST00000572933.1	+	12	3153	c.1693C>T	c.(1693-1695)Ctt>Ttt	p.L565F	DNAH2_ENST00000570791.1_Missense_Mutation_p.L647F|DNAH2_ENST00000082259.3_Missense_Mutation_p.L647F|DNAH2_ENST00000389173.2_Missense_Mutation_p.L565F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	565	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCTCAGTGCCTTGCTGGTGC	0.572000													25	34					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30486859	30486859	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:30486859G>A	ENST00000356798.6	+	4	465	c.285G>A	c.(283-285)ttG>ttA	p.L95L	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000454514.2_Silent_p.L95L|ITGAL_ENST00000358164.5_Silent_p.L95L	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	95					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CCAAGTACTTGGGAATGACCT	0.502000													51	119					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30486860	30486860	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:30486860G>A	ENST00000356798.6	+	4	466	c.286G>A	c.(286-288)Gga>Aga	p.G96R	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000454514.2_Missense_Mutation_p.G96R|ITGAL_ENST00000358164.5_Missense_Mutation_p.G96R	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	96					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CAAGTACTTGGGAATGACCTT	0.502000													50	120					0	0	1	0	0
RMDN2	151393	broad.mit.edu	37	2	38179109	38179109	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:38179109C>T	ENST00000407257.1	+	2	898	c.751C>T	c.(751-753)Cct>Tct	p.P251S	RMDN2_ENST00000234195.3_Missense_Mutation_p.P251S|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Missense_Mutation_p.P251S|RMDN2_ENST00000354545.2_Intron					regulator of microtubule dynamics 2																		TTTCCTTCATCCTCGTCCTGA	0.398000													65	141					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47847335	47847335	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:47847335C>T	ENST00000339488.4	-	3	1278	c.1245G>A	c.(1243-1245)ctG>ctA	p.L415L		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	415						integral to membrane	hedgehog receptor activity										GTTTGCGATCCAGGTATTCTG	0.498000													33	82					0	0	1	0	0
HCAR3	8843	broad.mit.edu	37	12	123200983	123200983	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:123200983C>T	ENST00000528880.2	-	1	456	c.302G>A	c.(301-303)cGg>cAg	p.R101Q	HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	101						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	GAGCACCAGCCGGCAAGGGAT	0.557000													79	34					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7651553	7651553	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:7651553C>T	ENST00000359156.4	-	4	891	c.689G>A	c.(688-690)gGa>gAa	p.G230E	CD163_ENST00000396620.3_Missense_Mutation_p.G230E|CD163_ENST00000432237.2_Missense_Mutation_p.G230E|CD163_ENST00000541972.1_Missense_Mutation_p.G218E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	230	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGACTCATTTCCGTTGCATAT	0.433000													108	209					0	0	1	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17055149	17055149	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:17055149C>T	ENST00000262096.8	+	5	1127	c.432C>T	c.(430-432)tcC>tcT	p.S144S		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	144						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		ATCACTGCTCCGTCTGTGATA	0.388000													86	187					0	0	1	0	0
CHMP7	91782	broad.mit.edu	37	8	23115573	23115573	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:23115573C>T	ENST00000397677.1	+	6	1467	c.819C>T	c.(817-819)tgC>tgT	p.C273C	CHMP7_ENST00000313219.7_Silent_p.C273C|CHMP7_ENST00000520102.1_3'UTR	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	273					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GCCGGGCATGCCGAGCAGGAA	0.572000													5	268					0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62265793	62265793	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:62265793G>A	ENST00000258991.3	-	5	2264	c.2180C>T	c.(2179-2181)cCc>cTc	p.P727L	TEX2_ENST00000583097.1_Intron|TEX2_ENST00000584379.1_Intron			Q8IWB9	TEX2_HUMAN	testis expressed 2	724				PGLLP -> LRAFA (in Ref. 2; CAH10519).	signal transduction|sphingolipid metabolic process	integral to membrane				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)		CAAGAAGACGGGGGCTATTCA	0.493000													35	66					0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76949074	76949074	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:76949074C>T	ENST00000380887.2	+	5	831	c.759C>T	c.(757-759)gtC>gtT	p.V253V	ESRRB_ENST00000261532.7_Silent_p.V253V|ESRRB_ENST00000509242.1_Silent_p.V253V|ESRRB_ENST00000556177.1_Silent_p.V253V			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	253						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		AGCTTGTGGTCATCATTGGCT	0.617000													39	91					0	0	1	0	0
LYPD3	27076	broad.mit.edu	37	19	43965924	43965924	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:43965924G>A	ENST00000244333.3	-	5	708	c.620C>T	c.(619-621)cCa>cTa	p.P207L		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	207	UPAR/Ly6 2.					anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				CGTGAACCCTGGGCCTGTTAC	0.582000													95	150					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1616272	1616272	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:1616272G>A	ENST00000426508.2	-	16	2154	c.1791C>T	c.(1789-1791)tcC>tcT	p.S597S	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	597										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AGCAGATTTTGGAATCAGGGC	0.507000													74	130					0	0	1	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31710717	31710717	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:31710717G>A	ENST00000493662.2	+	4	391	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	MSH5_ENST00000375750.3_Missense_Mutation_p.R112Q|MSH5_ENST00000375755.3_Missense_Mutation_p.R112Q|MSH5_ENST00000482280.1_3'UTR|MSH5_ENST00000375703.3_Missense_Mutation_p.R112Q|MSH5_ENST00000534153.4_Missense_Mutation_p.R112Q|MSH5_ENST00000375742.3_Missense_Mutation_p.R112Q|MSH5_ENST00000375740.3_Missense_Mutation_p.R112Q																							AATATGACTCGATTTCTGGGA	0.433000													63	201					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6055729	6055729	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:6055729G>A	ENST00000282924.5	-	13	2339	c.1854C>T	c.(1852-1854)ctC>ctT	p.L618L	JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000410077.2_Silent_p.L453L|JAKMIP1_ENST00000409021.3_Intron|JAKMIP1_ENST00000409831.1_Silent_p.L618L	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	618	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGGTTCAAAGAGAATGTCTG	0.373000													70	54					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29559101	29559101	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:29559101C>T	ENST00000358273.4	+	25	3591	c.3208C>T	c.(3208-3210)Cag>Tag	p.Q1070*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1070*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1070					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGATTTGGACCAGGCAAGCAT	0.373000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			6	19					0	0	1	0	0
SHROOM1	134549	broad.mit.edu	37	5	132160739	132160739	+	Silent	SNP	G	G	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:132160739G>T	ENST00000378679.3	-	5	1809	c.1005C>A	c.(1003-1005)ccC>ccA	p.P335P	SHROOM1_ENST00000319854.3_Silent_p.P335P|SHROOM1_ENST00000378676.1_Silent_p.P335P	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	335					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAATGGTCTGGGGGTTTCTG	0.517000													87	149					9.24413e-38	9.47685e-38	1	1	0
RP1	6101	broad.mit.edu	37	8	55533867	55533867	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:55533867C>T	ENST00000220676.1	+	2	489	c.341C>T	c.(340-342)cCt>cTt	p.P114L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	114	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGGTGCAGCCTGTAGACCTG	0.692000													78	150					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168233516	168233516	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:168233516G>A	ENST00000519560.1	-	9	1289	c.870C>T	c.(868-870)atC>atT	p.I290I	SLIT3_ENST00000404867.3_Silent_p.I290I|SLIT3_ENST00000332966.8_Silent_p.I290I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	290	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACAGTCCACGATGTTATTGC	0.582000													69	178					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27279826	27279826	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:27279826G>A	ENST00000397501.1	+	10	1285	c.477G>A	c.(475-477)cgG>cgA	p.R159R	PTK2B_ENST00000338238.4_Silent_p.R159R|PTK2B_ENST00000544172.1_Silent_p.R159R|PTK2B_ENST00000517339.1_Silent_p.R159R|PTK2B_ENST00000346049.5_Silent_p.R159R|PTK2B_ENST00000420218.2_Silent_p.R159R	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	159	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		ACCAGCTCCGGAACGACTACA	0.622000													31	66					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176708828	176708828	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:176708828C>T	ENST00000367662.3	+	13	5029	c.3865C>T	c.(3865-3867)Ccc>Tcc	p.P1289S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1289					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			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						TGGCCTAGTTCCCGGAGAGCA	0.448000													41	81					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79412073	79412073	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:79412073C>T	ENST00000370742.3	-	3	274	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	71	EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTAGCATTTTCGCCACAGGAC	0.323000													19	23					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118199316	118199316	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:118199316G>A	ENST00000425217.1	-	4	453	c.399C>T	c.(397-399)tcC>tcT	p.S133S	KSR2_ENST00000339824.5_Silent_p.S162S	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	162					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGTCTTGTTTGGAAAGGTTGC	0.547000													162	55					0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651483	1651483	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:1651483G>C	ENST00000399676.2	+	1	451	c.413G>C	c.(412-414)gGc>gCc	p.G138A		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	138	8 X 4 AA repeats of C-C-X-P.					keratin filament		p.G138A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCCAAGGGGGGCTGTGGCTCC	0.692000													7	262					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26219626	26219626	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr22:26219626G>A	ENST00000335473.7	+	13	2926	c.2676G>A	c.(2674-2676)gaG>gaA	p.E892E	MYO18B_ENST00000407587.2_Silent_p.E892E|MYO18B_ENST00000536101.1_Silent_p.E892E	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	892	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGGGCCTCGAGGATGAGGAAA	0.577000													136	308					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012654	189012654	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:189012654G>A	ENST00000512729.1	-	7	1411	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	TRIML2_ENST00000326754.3_Missense_Mutation_p.S371F	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	346	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GGCGCAATGGGAGAAATTGTA	0.483000													77	154					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101763535	101763535	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr13:101763535C>T	ENST00000251127.6	-	19	2316	c.2235G>A	c.(2233-2235)ggG>ggA	p.G745G		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	745						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGCGGGCTGCCCCTCAAATG	0.483000													5	332					0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264304	61264304	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:61264304G>A	ENST00000344731.5	+	8	985	c.883G>A	c.(883-885)Gat>Aat	p.D295N	SERPINB13_ENST00000269489.5_Missense_Mutation_p.D243N	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	295					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GGACGGTTACGATCTAGAGGC	0.547000													80	151					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12979494	12979494	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:12979494G>A	ENST00000251472.4	+	21	2643	c.2604G>A	c.(2602-2604)tcG>tcA	p.S868S		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	868					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCCCACCCTCGAAGGATGGGG	0.577000													108	221					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20497986	20497986	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:20497986G>A	ENST00000573854.1	+	14	1834	c.1720G>A	c.(1720-1722)Gcc>Acc	p.A574T	ACSM2A_ENST00000536134.1_Missense_Mutation_p.A346T|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A495T|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A574T|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A574T|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A574T	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	574					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GTCCGGAAAAGCCCGTGCGCA	0.458000													121	217					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10107320	10107320	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:10107320C>T	ENST00000264828.3	-	12	1394	c.1309G>A	c.(1309-1311)Ggc>Agc	p.G437S	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	437	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCCGGTGGGCCTCGGATCCCA	0.642000													24	61					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73487159	73487159	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:73487159C>T	ENST00000314256.7	+	12	1552	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	KIAA0195_ENST00000579208.1_Silent_p.F37F|KIAA0195_ENST00000375248.5_Silent_p.F396F	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	386					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGGCCACTTCCTGAGGGTGC	0.632000													40	62					0	0	1	0	0
OAT	4942	broad.mit.edu	37	10	126089462	126089462	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:126089462G>A	ENST00000368845.5	-	9	1198	c.1106C>T	c.(1105-1107)aCt>aTt	p.T369I	OAT_ENST00000539214.1_Missense_Mutation_p.T231I	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	369					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	TCTTACGGCAGTTACAACATC	0.333000													17	30					0	0	1	0	0
TNFSF14	8740	broad.mit.edu	37	19	6669885	6669885	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:6669885C>T	ENST00000599359.1	-	2	577	c.196G>A	c.(196-198)Gga>Aga	p.G66R	TNFSF14_ENST00000326176.9_Intron|TNFSF14_ENST00000245912.3_Intron			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	66					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						ACCATCTCTCCTAGACGCCAG	0.662000													68	90					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29754859	29754859	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:29754859C>T	ENST00000389048.3	-	4	1982	c.1076G>A	c.(1075-1077)gGa>gAa	p.G359E	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	359	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AATGTACCTTCCAGAGGGCTG	0.587000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				50	95					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332540	22332540	+	RNA	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:22332540G>A	ENST00000558896.1	+	0	347																											GAAACCTCTTGATAGTGGTAA	0.388000													74	602					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36641352	36641352	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:36641352G>A	ENST00000373448.2	-	3	1105	c.867C>T	c.(865-867)atC>atT	p.I289I	TTI1_ENST00000449821.1_Silent_p.I289I|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Silent_p.I289I	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	289							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TTTTAATAAGGATAGTCAACT	0.443000													113	212					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93955137	93955137	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:93955137C>T	ENST00000369303.4	-	16	2945	c.2761G>A	c.(2761-2763)Gat>Aat	p.D921N		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	921						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTAGTGAAATCAGGAGTGTTT	0.378000													56	108					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92560207	92560207	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr13:92560207G>A	ENST00000377067.3	+	6	1669	c.1297G>A	c.(1297-1299)Gtt>Att	p.V433I		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	433						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TCAGCGTGTGGTTGGAAATGG	0.388000													28	61					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	142567932	142567932	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:142567932C>T	ENST00000389484.3	-	2	1092	c.121G>A	c.(121-123)Gat>Aat	p.D41N	LRP1B_ENST00000486364.1_5'UTR	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	41	LDL-receptor class A 1.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCACGTGATCGTGGCAAAGA	0.448000										TSP Lung(27;0.18)			33	39					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255554	140255554	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:140255554C>T	ENST00000398631.2	+	1	497	c.497C>T	c.(496-498)tCt>tTt	p.S166F	PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGTAAACTCTCTTTTGACC	0.378000													55	99					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123745046	123745046	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:123745046C>T	ENST00000223642.1	-	26	3306	c.3277G>A	c.(3277-3279)Gta>Ata	p.V1093I		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1093					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TTCTGCTCTACGTATTTATTT	0.294000													12	30					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95182762	95182762	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:95182762G>A	ENST00000027335.3	-	9	1053	c.929C>T	c.(928-930)gCa>gTa	p.A310V	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.A310V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	310	Cadherin 3.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTTGCAACTGCATAAAAAAC	0.383000													5	171					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23851666	23851666	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:23851666G>A	ENST00000405093.3	-	38	5837	c.5767C>T	c.(5767-5769)Cga>Tga	p.R1923*	MYH6_ENST00000356287.3_Nonsense_Mutation_p.R1923*	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1923					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			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)		CTCTTGGCTCGAAGCTTGTTG	0.587000													65	124					0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245135	59245135	+	Missense_Mutation	SNP	T	T	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:59245135T>G	ENST00000530162.1	+	1	290	c.233T>G	c.(232-234)gTg>gGg	p.V78G		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCATCACAGTGCCCAAGGTT	0.438000													85	170					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72423537	72423537	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:72423537C>T	ENST00000359373.5	-	6	1675	c.824G>A	c.(823-825)gGg>gAg	p.G275E	ARAP1_ENST00000426523.1_Missense_Mutation_p.G30E|ARAP1_ENST00000393605.3_Missense_Mutation_p.G35E|ARAP1_ENST00000455638.2_Missense_Mutation_p.G275E|ARAP1_ENST00000334211.8_Missense_Mutation_p.G30E|ARAP1_ENST00000393609.3_Missense_Mutation_p.G275E|ARAP1_ENST00000429686.1_Missense_Mutation_p.G30E			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	275					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TTGGTCGTCCCCAGACAGTTC	0.677000													142	253					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43411155	43411155	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:43411155G>A	ENST00000187910.2	-	5	1224	c.1159C>T	c.(1159-1161)Cat>Tat	p.H387Y	PSG6_ENST00000292125.2_Missense_Mutation_p.H387Y|PSG6_ENST00000402603.4_Missense_Mutation_p.H294Y	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				AGCCCGCTATGATTTGTAGTA	0.453000													218	444					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52356755	52356755	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:52356755C>T	ENST00000420323.2	+	2	558	c.297C>T	c.(295-297)tcC>tcT	p.S99S		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	99	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTTCTACTCCGACATCCTCA	0.587000													7	14					0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42681288	42681288	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:42681288C>T	ENST00000397163.3	+	5	1014	c.795C>T	c.(793-795)tcC>tcT	p.S265S	CAPN3_ENST00000357568.3_Silent_p.S265S|CAPN3_ENST00000356316.3_Silent_p.S178S|CAPN3_ENST00000349748.3_Silent_p.S265S|CAPN3_ENST00000318023.7_Silent_p.S265S|RP11-164J13.1_ENST00000495723.1_RNA	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	265	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TGGGCTGCTCCATTGATGTAA	0.527000													84	157					0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172001604	172001604	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:172001604G>A	ENST00000358155.4	+	5	828	c.652G>A	c.(652-654)Gat>Aat	p.D218N	DNM3_ENST00000367733.2_Missense_Mutation_p.D218N|DNM3_ENST00000520906.1_Missense_Mutation_p.D218N|DNM3_ENST00000355305.5_Missense_Mutation_p.D218N|DNM3_ENST00000367731.1_Missense_Mutation_p.D218N	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	218					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GGATGCCAGGGATGTTCTAGA	0.373000													52	138					0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241463768	241463768	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:241463768G>A	ENST00000391987.1	-	8	1465	c.1099C>T	c.(1099-1101)Ctt>Ttt	p.L367F	ANKMY1_ENST00000406958.1_Missense_Mutation_p.L226F|ANKMY1_ENST00000272972.3_Missense_Mutation_p.L367F|ANKMY1_ENST00000403283.1_Missense_Mutation_p.L305F|ANKMY1_ENST00000401804.1_Missense_Mutation_p.L456F|ANKMY1_ENST00000373318.2_Missense_Mutation_p.L226F|ANKMY1_ENST00000405002.1_Missense_Mutation_p.L137F|ANKMY1_ENST00000373320.4_Missense_Mutation_p.L137F|ANKMY1_ENST00000361678.4_Missense_Mutation_p.L226F|ANKMY1_ENST00000536462.1_Missense_Mutation_p.L179F|ANKMY1_ENST00000405523.3_Missense_Mutation_p.L226F			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	367							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GATGATGAAAGGATTGGAACA	0.443000													37	76					0	0	1	0	0
TRIM56	81844	broad.mit.edu	37	7	100732247	100732247	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:100732247C>T	ENST00000306085.6	+	3	1951	c.1654C>T	c.(1654-1656)Cct>Tct	p.P552S		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	552					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GGGCTGCTCCCCTTGCAGCGT	0.672000													86	245					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229725	87229725	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:87229725C>T	ENST00000297524.3	-	3	1256	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	SLC7A13_ENST00000419776.2_Missense_Mutation_p.E376K	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	385						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AGATTGGGTTCCTGGTATCTC	0.274000													26	25					0	0	1	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166600	180166600	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:180166600G>A	ENST00000307832.2	-	1	499	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGAGTTCACGAAACCCGCAC	0.552000													25	45					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32010363	32010363	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:32010363G>A	ENST00000375244.3	-	40	12280	c.12079C>T	c.(12079-12081)Ccc>Tcc	p.P4027S	TNXB_ENST00000451343.1_Missense_Mutation_p.P456S|TNXB_ENST00000375247.2_Missense_Mutation_p.P4025S			P22105	TENX_HUMAN	tenascin XB	4072	Fibronectin type-III 32.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGTCCCTGGGGAAGGGGATC	0.687000													11	15					0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115829023	115829023	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:115829023C>T	ENST00000369512.2	-	3	562	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	132					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	ACCGAGAATTCGCCCCTGTGG	0.567000													34	63					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4808372	4808372	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:4808372G>A	ENST00000302640.8	+	44	6008	c.5658G>A	c.(5656-5658)agG>agA	p.R1886R	ITPR1_ENST00000423119.2_Silent_p.R1853R|ITPR1_ENST00000456211.2_Silent_p.R1838R|ITPR1_ENST00000357086.4_Silent_p.R1853R|ITPR1_ENST00000443694.2_Silent_p.R1886R|ITPR1_ENST00000354582.6_Silent_p.R1886R|ITPR1_ENST00000544951.1_Intron	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1901					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGGTAGACAGGGATGCCCCAT	0.433000													37	60					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	80968129	80968129	+	Missense_Mutation	SNP	A	A	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:80968129A>T	ENST00000334512.5	+	6	669	c.97A>T	c.(97-99)Acg>Tcg	p.T33S		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	33					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAATGCCGCCACGGAGCTGCT	0.622000													20	69					0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52609992	52609992	+	Missense_Mutation	SNP	G	G	A	rs145559755		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:52609992G>A	ENST00000591504.1	-	3	305	c.31C>T	c.(31-33)Ccc>Tcc	p.P11S	CCDC68_ENST00000432185.1_Missense_Mutation_p.P11S|CCDC68_ENST00000337363.4_Missense_Mutation_p.P11S	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	11										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TCCCTTGGGGGAATTTCTGTG	0.383000													39	90					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234445036	234445036	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:234445036C>T	ENST00000366618.3	+	4	943	c.798C>T	c.(796-798)atC>atT	p.I266I	SLC35F3_ENST00000366617.3_Silent_p.I197I	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	197					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TCTCATGGATCGTTCTCAGGG	0.443000													26	66					0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39768440	39768440	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:39768440G>A	ENST00000301653.4	-	1	565	c.501C>T	c.(499-501)taC>taT	p.Y167Y		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	167	Linker 1.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TGGTCTTGAAGTAGGGACTGT	0.562000													108	210					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139203969	139203969	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:139203969C>T	ENST00000423192.1	+	15	2150	c.1989C>T	c.(1987-1989)ttC>ttT	p.F663F	ECT2L_ENST00000541398.1_Silent_p.F594F|ECT2L_ENST00000367682.2_Silent_p.F663F			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	663	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ATACCAATTTCTTCAACAATT	0.408000			"""N, Splice, Mis"""		ETP ALL								34	67					0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	49731062	49731062	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:49731062C>T	ENST00000451037.2	-	5	1441	c.501G>A	c.(499-501)acG>acA	p.T167T	CA10_ENST00000571918.1_5'UTR|CA10_ENST00000340813.6_Silent_p.T173T|CA10_ENST00000442502.2_Silent_p.T167T|CA10_ENST00000570565.1_Silent_p.T92T|CA10_ENST00000285273.4_Silent_p.T167T	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	167					brain development			p.T167T(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)			CTGTGACATTCGTATATAGCT	0.398000													38	91					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197062342	197062342	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:197062342C>T	ENST00000367409.4	-	21	9390	c.9134G>A	c.(9133-9135)gGa>gAa	p.G3045E	ASPM_ENST00000294732.7_Missense_Mutation_p.G1460E|ASPM_ENST00000367408.1_Missense_Mutation_p.G710E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3045	IQ 36.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GACCTGCCTTCCTTTATATCC	0.353000													60	132					0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196928039	196928039	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:196928039G>A	ENST00000367415.4	+	5	756	c.642G>A	c.(640-642)atG>atA	p.M214I	CFHR2_ENST00000367421.3_Missense_Mutation_p.M214I|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	214	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AAGAAATTATGGAAAAATATA	0.279000													21	32					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477365	110477365	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:110477365G>A	ENST00000378402.5	+	49	8408	c.8304G>A	c.(8302-8304)ggG>ggA	p.G2768G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2768					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.G2770G(3)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACAGATGTGGGGGTTGGAGTG	0.463000										HNSCC(38;0.096)			70	107					0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196795969	196795969	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:196795969C>T	ENST00000320493.5	+	3	352	c.264C>T	c.(262-264)ttC>ttT	p.F88F	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000498248.1_3'UTR|CFHR1_ENST00000367424.3_Silent_p.F88F	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	88	Sushi 2.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GACTGTGTTTCTTTCCTTTTG	0.348000													43	96					0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033512	82033512	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:82033512C>T	ENST00000328945.5	-	3	513	c.386G>A	c.(385-387)gGa>gAa	p.G129E	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	129					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						AACTTGACCTCCAAAGATGAC	0.488000													66	88					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124315246	124315246	+	Splice_Site	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:124315246G>A	ENST00000409039.3	+	25	4216	c.4191_splice	c.e25+1	p.K1397_splice		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1397	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCATTGAGAAGGTAAGACTTC	0.348000													34	10					0	0	1	0	0
GRK1	6011	broad.mit.edu	37	13	114322182	114322182	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr13:114322182C>T	ENST00000335678.6	+	1	713	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	161	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GGGCCAAGCCCCCTTCCAGGA	0.632000													6	17					0	0	1	0	0
OGFR	11054	broad.mit.edu	37	20	61444153	61444153	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:61444153C>T	ENST00000370461.1	+	5	3307	c.1030C>T	c.(1030-1032)Ccc>Tcc	p.P344S	OGFR_ENST00000370468.3_Missense_Mutation_p.P396S|OGFR_ENST00000290291.6_Missense_Mutation_p.P396S			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	396					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GGAGCAGCCGCCCACAGAGCC	0.657000													26	53					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40743912	40743912	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:40743912C>T	ENST00000373198.3	-	23	3327	c.3092G>A	c.(3091-3093)gGa>gAa	p.G1031E	PTPRT_ENST00000373201.1_Missense_Mutation_p.G999E|PTPRT_ENST00000373190.1_Missense_Mutation_p.G1008E|PTPRT_ENST00000373184.1_Missense_Mutation_p.G1019E|PTPRT_ENST00000356100.2_Missense_Mutation_p.G1018E|PTPRT_ENST00000373187.1_Missense_Mutation_p.G1009E|PTPRT_ENST00000373193.3_Missense_Mutation_p.G1012E	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1009	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTTAATGTCTCCGTAGACCTC	0.512000													69	146					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513100	99513100	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:99513100G>A	ENST00000261037.3	+	5	735	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	COL8A1_ENST00000273342.4_Missense_Mutation_p.E119K	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	119	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TTTACGAGGGGAACAAGGTCC	0.527000													17	31					0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11087300	11087300	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:11087300C>T	ENST00000400897.3	-	11	1718	c.1703G>A	c.(1702-1704)gGa>gAa	p.G568E		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	568	Peptidase S1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		AGATGCAGTTCCAATGTCATC	0.383000													81	165					0	0	1	0	0
ZNF232	7775	broad.mit.edu	37	17	5009214	5009214	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:5009214G>A	ENST00000250076.3	-	5	1894	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	ZNF232_ENST00000575898.1_Missense_Mutation_p.P405S	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	387					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						CATATAAAAGGTTTCTCTCCA	0.433000													48	98					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158585110	158585110	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:158585110G>A	ENST00000368148.3	-	48	6864	c.6684C>T	c.(6682-6684)atC>atT	p.I2228I	SPTA1_ENST00000368147.3_Silent_p.I2225I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2228					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGATATCAAGGATCAGAGCGT	0.507000													128	256					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17547909	17547909	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:17547909C>T	ENST00000005226.7	-	8	658	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	USH1C_ENST00000527720.1_Missense_Mutation_p.R189Q|USH1C_ENST00000527020.1_Missense_Mutation_p.R220Q|USH1C_ENST00000318024.4_Missense_Mutation_p.R220Q	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	220	PDZ 2.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GCCAAGGCCTCGGGAGCCTAC	0.617000													20	71					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178879077	178879077	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:178879077C>T	ENST00000286063.5	-	2	1340	c.1023G>A	c.(1021-1023)gcG>gcA	p.A341A	PDE11A_ENST00000358450.4_Silent_p.A91A	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	341	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TCTTATTTATCGCTTGGGCCA	0.378000									Primary Pigmented Nodular Adrenocortical Disease, Familial				62	117					0	0	1	0	0
PKNOX1	5316	broad.mit.edu	37	21	44450147	44450147	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr21:44450147C>T	ENST00000291547.5	+	11	1458	c.1247C>T	c.(1246-1248)gCg>gTg	p.A416V	PKNOX1_ENST00000432907.2_Missense_Mutation_p.A299V	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	416							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GAGGAGGATGCGGGTGCCCTG	0.632000													4	147					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142568566	142568566	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:142568566G>A	ENST00000392957.2	+	20	3762	c.2975G>A	c.(2974-2976)gGc>gAc	p.G992D	EPHB6_ENST00000442129.1_Missense_Mutation_p.G992D|EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000411471.2_Missense_Mutation_p.G715D	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	992	SAM.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			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)					CCTGCCCTGGGCATCACCCTG	0.617000													5	186					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80726795	80726795	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:80726795G>A	ENST00000458043.2	+	37	4338	c.4332G>A	c.(4330-4332)atG>atA	p.M1444I	OTOGL_ENST00000547103.1_Intron	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTGGGAAATGATTACTCCAT	0.363000													17	5					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140406895	140406895	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:140406895C>T	ENST00000286349.3	+	3	1562	c.1371C>T	c.(1369-1371)atC>atT	p.I457I		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	457	COS.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGGACGGCATCCAGACCACCT	0.567000													26	58					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168871	142168871	+	RNA	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:142168871C>T	ENST00000454561.2	-	0	174																											CAGCACTGCACCTGATTCAGG	0.602000													30	30					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106843834	106843834	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chrX:106843834C>T	ENST00000276185.4	+	16	2664	c.2664C>T	c.(2662-2664)ggC>ggT	p.G888G				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	888						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GCCCCCCTGGCGCTCGGAGGA	0.627000													22	7					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38407112	38407112	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:38407112C>T	ENST00000322350.5	+	8	1357	c.1011C>T	c.(1009-1011)gcC>gcT	p.A337A	EGFLAM_ENST00000354891.3_Silent_p.A337A|EGFLAM_ENST00000336740.6_Silent_p.A103A|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	337						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATGGTGTGGCCATAATGTCAA	0.547000													53	116					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043300	74043300	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr2:74043300C>T	ENST00000409561.1	+	3	2071	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	650										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AAACTGGATTCTCTTCCTCCA	0.512000													38	89					0	0	1	0	0
CRK	1398	broad.mit.edu	37	17	1340006	1340006	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:1340006G>A	ENST00000300574.2	-	2	825	c.685C>T	c.(685-687)Ccg>Tcg	p.P229S	CRK_ENST00000398970.5_Intron|CRK_ENST00000572145.1_Intron|CRK_ENST00000574295.1_Intron	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	229					actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		TTAGGGAGCGGAGTGTTGACG	0.582000													49	130					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7866981	7866981	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:7866981G>A	ENST00000264669.5	-	2	1352	c.1216C>T	c.(1216-1218)Cgt>Tgt	p.R406C	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	406					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAAATCTGACGAGGTGAAAAT	0.403000													34	79					0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38348792	38348792	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:38348792C>T	ENST00000273173.4	+	2	655	c.564C>T	c.(562-564)atC>atT	p.I188I	SLC22A14_ENST00000448498.1_Silent_p.I188I	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	188						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTGCACAGATCATGTTCATGG	0.552000													89	170					0	0	1	0	0
TFG	10342	broad.mit.edu	37	3	100455446	100455446	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:100455446C>T	ENST00000240851.4	+	6	947	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	TFG_ENST00000476228.1_Missense_Mutation_p.R203C|TFG_ENST00000418917.2_Missense_Mutation_p.R203C|TFG_ENST00000490574.1_Missense_Mutation_p.R203C	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	203					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						TGCAGAAGATCGTTCAGGAAC	0.527000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								40	85					0	0	1	0	0
ZFP30	22835	broad.mit.edu	37	19	38126125	38126125	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:38126125C>T	ENST00000351218.2	-	6	1874	c.1317G>A	c.(1315-1317)aaG>aaA	p.K439K	ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Silent_p.K439K|ZFP30_ENST00000392144.1_Silent_p.K439K	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCCTTACACTTAAAGGGTT	0.388000													4	87					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13764735	13764735	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:13764735G>A	ENST00000279593.3	-	8	1913	c.1704C>T	c.(1702-1704)atC>atT	p.I568I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	568					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGGCTGAGACGATGAGCAGCA	0.522000													59	119					0	0	1	0	0
LINC00610	399879	broad.mit.edu	37	11	36293216	36293216	+	RNA	SNP	C	C	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:36293216C>A	ENST00000355500.1	-	0	355																											CCTGGTCCGTCCTGATGAATA	0.488000													5	32					1	1	1	1	0
ZWILCH	55055	broad.mit.edu	37	15	66819689	66819689	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr15:66819689C>T	ENST00000307897.5	+	9	1261	c.881C>T	c.(880-882)tCt>tTt	p.S294F	ZWILCH_ENST00000565627.1_Missense_Mutation_p.S180F|ZWILCH_ENST00000446801.2_Missense_Mutation_p.S180F|ZWILCH_ENST00000535141.2_Missense_Mutation_p.S180F	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	294					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						GAAGCAAAATCTGCTGTTGAA	0.363000													28	71					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70886021	70886021	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:70886021G>A	ENST00000333538.5	+	5	1526	c.892G>A	c.(892-894)Gag>Aag	p.E298K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	298						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GTACAGCTGGGAGCTGTGGTG	0.597000													67	181					0	0	1	0	0
EIF3E	3646	broad.mit.edu	37	8	109260899	109260899	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:109260899C>T	ENST00000220849.5	-	1	95	c.33G>A	c.(31-33)gcG>gcA	p.A11A	EIF3E_ENST00000519030.1_5'UTR	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	11	Sufficient for interaction with EPAS1.|Sufficient for interaction with TRIM27.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding	p.A11A(1)	EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			CCAAAAAGTGCGCGATGCGAG	0.512000													6	372					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854838	88854838	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:88854838G>A	ENST00000537554.1	-	2	3718	c.156C>T	c.(154-156)tcC>tcT	p.S52S	CNR1_ENST00000549890.1_Silent_p.S52S|CNR1_ENST00000468898.1_Intron|CNR1_ENST00000369499.2_Silent_p.S52S|CNR1_ENST00000549716.1_Intron|CNR1_ENST00000428600.2_Silent_p.S52S|CNR1_ENST00000362094.5_Intron|CNR1_ENST00000535130.1_Silent_p.S52S|CNR1_ENST00000369501.2_Silent_p.S52S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	52					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TTCCCCTAAAGGAAGTTAAAG	0.468000													36	58					0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175565133	175565133	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:175565133G>A	ENST00000274093.3	-	10	1701	c.1199C>T	c.(1198-1200)cCa>cTa	p.P400L	GLRA3_ENST00000340217.5_Missense_Mutation_p.P385L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	400					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GGGGCCCTTTGGAGTCATGCC	0.483000													88	146					0	0	1	0	0
ITGB7	3695	broad.mit.edu	37	12	53587064	53587064	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:53587064G>T	ENST00000267082.5	-	12	1817	c.1586C>A	c.(1585-1587)gCt>gAt	p.A529D	ITGB7_ENST00000422257.3_Missense_Mutation_p.A529D|ITGB7_ENST00000338737.4_Intron|ITGB7_ENST00000550743.2_Intron	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	529	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCATTGGGAGCCCGGCACCC	0.632000													4	69					1	1	1	1	0
CD300LG	146894	broad.mit.edu	37	17	41939197	41939197	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:41939197C>T	ENST00000317310.4	+	7	958	c.917C>T	c.(916-918)gCc>gTc	p.A306V		NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	306						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCTTCCCAGGCCCCTGAGGGG	0.607000													10	37					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43259348	43259348	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:43259348G>A	ENST00000404209.4	-	4	876	c.780C>T	c.(778-780)ttC>ttT	p.F260F	PSG8_ENST00000306511.4_Silent_p.F260F|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Silent_p.F138F|PSG8_ENST00000401467.2_Silent_p.F167F	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	260	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTTCACAGGTGAAGTTTAAGA	0.473000													160	308					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38591829	38591829	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:38591829G>A	ENST00000222345.6	+	6	2501	c.1992G>A	c.(1990-1992)aaG>aaA	p.K664K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	664	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCTGCCTGAAGGGCTTCACCA	0.597000													8	12					0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20586468	20586468	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:20586468C>T	ENST00000315543.4	+	1	903	c.903C>T	c.(901-903)ttC>ttT	p.F301F		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TAGATAAGTTCCTTGCTGTGT	0.398000													22	47					0	0	1	0	0
GINS2	51659	broad.mit.edu	37	16	85712251	85712251	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:85712251C>T	ENST00000253462.3	-	4	427	c.327G>A	c.(325-327)aaG>aaA	p.K109K		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	109					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)	6						TTTCGTCTGCCTTCGGGATGT	0.517000													69	116					0	0	1	0	0
SYT13	57586	broad.mit.edu	37	11	45274136	45274136	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:45274136G>A	ENST00000020926.3	-	4	793	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	228	C2 1.					transport vesicle		p.P228T(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TCCGCCAGGGGGAGCACCAGG	0.682000											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	97	104					0	0	1	0	0
AVL9	23080	broad.mit.edu	37	7	32582855	32582855	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:32582855G>A	ENST00000318709.4	+	2	417	c.196G>A	c.(196-198)Gca>Aca	p.A66T	AVL9_ENST00000409301.1_Missense_Mutation_p.A66T|AVL9_ENST00000404479.1_Missense_Mutation_p.A66T	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	66						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ACCAGATGGCGCACACAACTA	0.423000													7	388					0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58206953	58206953	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:58206953C>T	ENST00000302572.2	-	1	693	c.672G>A	c.(670-672)atG>atA	p.M224I		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGCGCATCTTCATGATGGTGA	0.398000													32	84					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7760650	7760650	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:7760650C>T	ENST00000340209.4	+	13	1409	c.1112C>T	c.(1111-1113)gCc>gTc	p.A371V	RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A366V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A366V|RBFOX1_ENST00000355637.4_3'UTR|RBFOX1_ENST00000547372.1_3'UTR|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A339V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A387V|RBFOX1_ENST00000552089.1_3'UTR			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	366					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTGACTGATGCCAAGACTAGG	0.408000													5	258					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681602	100681602	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:100681602C>T	ENST00000306151.4	+	3	6969	c.6905C>T	c.(6904-6906)aCt>aTt	p.T2302I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2302	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					CTTTCAACAACTCCTGTTGAC	0.473000													8	832					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24177773	24177773	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr8:24177773G>A	ENST00000265769.4	+	7	711	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.E201K|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	201					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GAAGGTTCAGGAACATGAGAA	0.308000													50	118					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74540461	74540461	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:74540461G>A	ENST00000354431.4	-	6	1072	c.881C>T	c.(880-882)cCt>cTt	p.P294L	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P294L	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	294										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TAAATCAACAGGATAATATAT	0.269000													6	11					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62744846	62744846	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:62744846C>T	ENST00000377871.3	-	9	1641	c.1375G>A	c.(1375-1377)Gga>Aga	p.G459R	SLC22A6_ENST00000421062.2_Intron|SLC22A6_ENST00000360421.4_Missense_Mutation_p.G459R|SLC22A6_ENST00000458333.2_Intron	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	459					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.G459*(1)		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						CTGCCCATTCCCATGCCTGTC	0.612000													13	28					0	0	1	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276766	71276766	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:71276766C>T	ENST00000398531.1	+	1	158	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S	KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.P45S	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	45						keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						CTGCTGTGTGCCCGTCTGCTG	0.687000													7	495					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876293	35876293	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:35876293G>A	ENST00000303115.3	+	8	1214	c.1085G>A	c.(1084-1086)gGa>gAa	p.G362E	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	362					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GAAAGCTTTGGAAGAGATTCA	0.537000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						23	75					0	0	1	0	0
USP20	10868	broad.mit.edu	37	9	132638502	132638502	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:132638502C>T	ENST00000315480.4	+	22	2552	c.2394C>T	c.(2392-2394)atC>atT	p.I798I	USP20_ENST00000372429.3_Silent_p.I798I|USP20_ENST00000358355.1_Silent_p.I798I			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	798	DUSP 2.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GGATCGAGATCGACACCTTCA	0.667000													16	33					0	0	1	0	0
MAPK3	5595	broad.mit.edu	37	16	30133239	30133239	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr16:30133239G>A	ENST00000403394.1	-	2	358	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	MAPK3_ENST00000322266.5_Missense_Mutation_p.R87W|MAPK3_ENST00000263025.4_Missense_Mutation_p.R87W|MAPK3_ENST00000484663.1_5'UTR|MAPK3_ENST00000395199.3_Missense_Mutation_p.R87W|MAPK3_ENST00000395200.1_Missense_Mutation_p.R58W|MAPK3_ENST00000395202.1_Missense_Mutation_p.R87W	NM_001040056.1	NP_001035145.1	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	87	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	TGGATCTCCCGGAGCGTGCGC	0.602000													36	53					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319170	21319170	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:21319170C>T	ENST00000583088.1	+	3	1411	c.516C>T	c.(514-516)atC>atT	p.I172I	KCNJ12_ENST00000331718.5_Silent_p.I172I	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GCTGCATCATCGACTCCTTCA	0.632000										Prostate(3;0.18)			14	156					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234454596	234454596	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:234454596C>T	ENST00000366618.3	+	6	1199	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S	SLC35F3_ENST00000366617.3_Missense_Mutation_p.P283S	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	283					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CACCTGCATTCCTATTATCCT	0.418000													108	160					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64136423	64136423	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:64136423C>T	ENST00000395254.3	+	2	751	c.471C>T	c.(469-471)ttC>ttT	p.F157F	ZNF365_ENST00000395255.3_Silent_p.F157F|ZNF365_ENST00000410046.3_Silent_p.F157F|ZNF365_ENST00000466727.1_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AAGCTTCTTTCGAGGCACATG	0.502000													56	122					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61309021	61309021	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:61309021G>A	ENST00000341074.5	-	4	439	c.324C>T	c.(322-324)ttC>ttT	p.F108F	SERPINB4_ENST00000356424.6_Silent_p.F108F	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TCTTTTCTCCGAAGAGCTTGT	0.413000													97	191					0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20585719	20585719	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:20585719C>T	ENST00000315543.4	+	1	154	c.154C>T	c.(154-156)Cag>Tag	p.Q52*		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GACCAGCTCCCAGGATGTAGA	0.433000													120	260					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1388766	1388766	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:1388766C>T	ENST00000324803.4	+	1	3427	c.467C>T	c.(466-468)gCc>gTc	p.A156V		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	156					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			ATGCGGAGTGCCCGCCTGCTC	0.706000													7	371					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48266817	48266817	+	Silent	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:48266817C>T	ENST00000302329.3	+	1	210	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTACTTCTTCCTCAGCTACC	0.488000													69	207					0	0	1	0	0
FERMT2	10979	broad.mit.edu	37	14	53331516	53331516	+	Silent	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:53331516G>A	ENST00000395631.2	-	11	1545	c.1329C>T	c.(1327-1329)ctC>ctT	p.L443L	FERMT2_ENST00000553373.1_Silent_p.L443L|FERMT2_ENST00000341590.3_Silent_p.L443L|FERMT2_ENST00000399304.3_Silent_p.L443L|FERMT2_ENST00000343279.4_Silent_p.L443L			Q96AC1	FERM2_HUMAN	fermitin family member 2	443	FERM.|PH.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					CTGGAATCAGGAGTTTAATGT	0.308000													91	154					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124376752	124376752	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:124376752C>T	ENST00000368909.3	+	37	4586	c.4480C>T	c.(4480-4482)Cca>Tca	p.P1494S	DMBT1_ENST00000344338.3_Missense_Mutation_p.P1484S|DMBT1_ENST00000368956.2_Missense_Mutation_p.P866S|DMBT1_ENST00000338354.3_Missense_Mutation_p.P1494S|DMBT1_ENST00000368955.3_Missense_Mutation_p.P1484S|DMBT1_ENST00000330163.4_Missense_Mutation_p.P866S|DMBT1_ENST00000359586.6_Missense_Mutation_p.P345S	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1494					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AGACACTTGGCCAACCTCTCG	0.453000													7	687					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127897	152127897	+	Missense_Mutation	SNP	C	C	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:152127897C>T	ENST00000316073.3	-	3	1742	c.1678G>A	c.(1678-1680)Ggt>Agt	p.G560S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	560	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCTGTCTGACCGTAGTGGGAA	0.502000													7	1327					0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107380283	107380283	+	Missense_Mutation	SNP	A	A	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:107380283A>G	ENST00000259362.1	-	1	202	c.203T>C	c.(202-204)tTc>tCc	p.F68S		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						GATGTCCAAGAAGGAGAGGTT	0.473000													5	224					0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606166	1606166	+	Missense_Mutation	SNP	G	G	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:1606166G>C	ENST00000382171.2	-	1	347	c.314C>G	c.(313-315)tCc>tGc	p.S105C	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	105	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCCCCCTTGGAGCCCCCACA	0.672000													10	301					0	0	1	0	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305619	39305619	+	Missense_Mutation	SNP	G	G	T			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:39305619G>T	ENST00000343246.4	-	1	435	c.401C>A	c.(400-402)tCt>tAt	p.S134Y		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	139	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament		p.S134Y(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ttcacagcaagaggggtggca	0.637000													4	85					0.00909568	0.00915815	1	1	0
MBL1P	8512	broad.mit.edu	37	10	81680759	81680759	+	RNA	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:81680759G>A	ENST00000480805.1	+	0	826					NR_002724.2																						GGGCCCCCAGGAAACACAGGG	0.562000													12	38					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr4:71346978T>C	ENST00000413702.1	+	4	805	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.					extracellular region	protein binding	p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522000													5	373					0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71697450	71697450	+	Missense_Mutation	SNP	C	C	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:71697450C>A	ENST00000356340.3	+	32	2360	c.1824C>A	c.(1822-1824)gaC>gaA	p.D608E	COL13A1_ENST00000398966.3_Missense_Mutation_p.D586E|COL13A1_ENST00000357811.3_Missense_Mutation_p.D586E|COL13A1_ENST00000398974.3_Missense_Mutation_p.D596E|COL13A1_ENST00000398973.3_Missense_Mutation_p.D594E|COL13A1_ENST00000522165.1_Missense_Mutation_p.D589E|COL13A1_ENST00000398968.3_Missense_Mutation_p.D589E|COL13A1_ENST00000398972.3_Missense_Mutation_p.D594E|COL13A1_ENST00000398971.3_Missense_Mutation_p.D593E|COL13A1_ENST00000520133.1_Missense_Mutation_p.D542E|COL13A1_ENST00000517713.1_Missense_Mutation_p.D571E|COL13A1_ENST00000398964.3_Missense_Mutation_p.D579E|COL13A1_ENST00000354547.3_Missense_Mutation_p.D586E|COL13A1_ENST00000398969.3_Missense_Mutation_p.D536E|COL13A1_ENST00000520267.1_Missense_Mutation_p.D536E|COL13A1_ENST00000398978.3_Missense_Mutation_p.D608E			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	608	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AAAAAGGAGACCGTGGTCCCC	0.592000													27	54					5.77227e-19	5.87649e-19	1	1	0
C11orf30	56946	broad.mit.edu	37	11	76261047	76261047	+	Missense_Mutation	SNP	G	G	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr11:76261047G>A	ENST00000529032.1	+	20	3826	c.3826G>A	c.(3826-3828)Gag>Aag	p.E1276K	C11orf30_ENST00000524490.1_Missense_Mutation_p.E1178K|C11orf30_ENST00000525919.1_Missense_Mutation_p.E1277K|C11orf30_ENST00000343878.3_Missense_Mutation_p.E1109K|C11orf30_ENST00000524767.1_Missense_Mutation_p.E1291K|C11orf30_ENST00000533248.1_Missense_Mutation_p.E1185K|C11orf30_ENST00000334736.3_Missense_Mutation_p.E1276K|C11orf30_ENST00000525038.1_Missense_Mutation_p.E1277K			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1276					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TGTGGTGGTGGAGCCCAGTGG	0.483000													71	87					0	0	1	0	0
LOC100288069	100288069	broad.mit.edu	37	1	700532	700532	+	RNA	DEL	T	T	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:700532delT	ENST00000428504.1	-	0	1021					NR_033908.1																						aaaaaaaaaaTTCCTTTGGGA	0.453													2	4	---	---	---	---					
B3GALT6	126792	broad.mit.edu	37	1	1168240	1168241	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:1168240_1168241insA	ENST00000379198.2	+	1	612_613	c.582_583insA	c.(580-585)ccggggfs	p.PG194fs		NM_080605.3	NP_542172.2	Q96L58	B3GT6_HUMAN	UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6	194					glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase activity			lung(3)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCGTCAAGCCGGGGGGGCGCTG	0.767													31	45	---	---	---	---					
OXCT2	64064	broad.mit.edu	37	1	40236415	40236415	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:40236415delG	ENST00000327582.5	-	1	605	c.513delC	c.(511-513)ccfs	p.P171fs	BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	171					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	TGTAGCGGATGGGGGCGCCCC	0.731													2	4	---	---	---	---					
RP11-640M9.2	0	broad.mit.edu	37	1	144597983	144597991	+	RNA	DEL	CAGATAGAC	CAGATAGAC	-	rs111294330		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:144597983_144597991delCAGATAGAC	ENST00000419820.1	+	0	439																											TATACGTGTACAGATAGACCAGATAGACC	0.402													3	3	---	---	---	---					
APOA1BP	128240	broad.mit.edu	37	1	156562376	156562376	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr1:156562376delA	ENST00000368235.3	+	4	473	c.430delA	c.(430-432)aafs	p.K144fs	APOA1BP_ENST00000368234.3_Frame_Shift_Del_p.K144fs|APOA1BP_ENST00000467374.1_3'UTR|APOA1BP_ENST00000368233.3_Frame_Shift_Del_p.K144fs	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein	144	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTATTACCCCAAAAGGCCTAA	0.567													9	638	---	---	---	---					
XPC	7508	broad.mit.edu	37	3	14219966	14219968	+	Splice_Site	DEL	CCT	CCT	-	rs72561774		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr3:14219966_14219968delCCT	ENST00000285021.7	-	1	315_317	c.103_splice	c.e1+1	p.ED34_splice	XPC_ENST00000449060.2_Splice_Site_p.ED34_splice|LSM3_ENST00000306024.3_5'UTR	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	34	Glu-rich (acidic).|Poly-Glu.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	p.E34delE(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGCTCTCACCCTCCTCCTCCTC	0.734			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				9	233	---	---	---	---					
GPR98	84059	broad.mit.edu	37	5	90024654	90024654	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:90024654delA	ENST00000405460.2	+	49	10426	c.10330delA	c.(10330-10332)acfs	p.N3444fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3444					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGTTTATTAACTTTCAAGA	0.443													39	66	---	---	---	---					
HNRNPH1	3187	broad.mit.edu	37	5	179046306	179046306	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr5:179046306delT	ENST00000356731.5	-	4	2035	c.500delA	c.(499-501)agfs	p.K167fs	HNRNPH1_ENST00000510411.1_Frame_Shift_Del_p.K167fs|HNRNPH1_ENST00000442819.2_Frame_Shift_Del_p.K167fs|HNRNPH1_ENST00000393432.4_Frame_Shift_Del_p.K167fs|HNRNPH1_ENST00000329433.6_Frame_Shift_Del_p.K167fs			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	167	RRM 2.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CTTTAGAGCCTTTTCAGCTAT	0.453													9	550	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:31939825_31939826insG	ENST00000375331.2	+	1	218_219	c.52_53insG	c.(52-54)ggcfs	p.G18fs	STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													8	898	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-57)gaafs	p.E19fs	STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													15	763	---	---	---	---					
PHF1	5252	broad.mit.edu	37	6	33380050	33380050	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:33380050delC	ENST00000374516.3	+	2	281	c.10delC	c.(10-12)ccfs	p.P5fs	PHF1_ENST00000459809.1_3'UTR|PHF1_ENST00000374512.3_Frame_Shift_Del_p.P5fs	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	5					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				AATGGCGCAGCCCCCCCGGCT	0.567													7	175	---	---	---	---					
SCUBE3	222663	broad.mit.edu	37	6	35213795	35213796	+	Frame_Shift_Ins	INS	-	-	GGAAG			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:35213795_35213796insGGAAG	ENST00000274938.7	+	20	2674_2675	c.2674_2675insGGAAG	c.(2674-2676)gaafs	p.E892fs	SCUBE3_ENST00000394681.1_Frame_Shift_Ins_p.E908fs	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	892	CUB.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TGCCCGTTCCAGGAAGCTCTGG	0.550													178	493	---	---	---	---					
ZNF76	7629	broad.mit.edu	37	6	35258075	35258075	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:35258075delA	ENST00000373953.3	+	6	731	c.465delA	c.(463-465)ggfs	p.G155fs	ZNF76_ENST00000339411.5_Frame_Shift_Del_p.G155fs|ZNF76_ENST00000440666.2_Frame_Shift_Del_p.G129fs	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	155					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CCCGTAATGGAAAAGGGCAGC	0.532													7	840	---	---	---	---					
HSP90AB1	3326	broad.mit.edu	37	6	44221052	44221052	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr6:44221052delT	ENST00000371554.1	+	11	2216	c.2002delT	c.(2002-2004)ttfs	p.F668fs	HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.F668fs|HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.F668fs			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	668					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATCTTCTGGCTTTTCCCTTGA	0.527													11	1716	---	---	---	---					
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151	by1000genomes	TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)ccgcgg>ccGGCgcgg	p.389_390PR>PAR		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													12	134	---	---	---	---					
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TCAATTGTTCGTGTGTGTGTGT	0.356													8	509	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65150713	65150714	+	RNA	INS	-	-	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:65150713_65150714insA	ENST00000430126.2	+	0	694_695																											CATACCATGAGAAAATCTCTAA	0.436													5	3	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65150816	65150817	+	RNA	INS	-	-	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:65150816_65150817insC	ENST00000430126.2	+	0	757																											TTCATCCCTCACCCCCCCCCCC	0.465													5	10	---	---	---	---					
GIGYF1	64599	broad.mit.edu	37	7	100284335	100284337	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:100284335_100284337delCCT	ENST00000275732.5	-	7	1838_1840	c.629_631delAGG	c.(628-633)ggc>g	p.EG210del	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	210	Poly-Glu.							p.E210delE(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCAGCTGCcctcctcctcctc	0.700													7	188	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659		TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:131241030_131241035delGGCGAC	ENST00000541194.1	-	1	341_346	c.84_89delGTCGCC	c.(82-90)ccc>cc	p.PSP28del	PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748													9	13	---	---	---	---					
WDR60	55112	broad.mit.edu	37	7	158704353	158704353	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr7:158704353delA	ENST00000407559.3	+	12	1731	c.1573delA	c.(1573-1575)aafs	p.K526fs		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	526										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AAACTTTGGGAAAAAAAATAC	0.328													10	255	---	---	---	---					
CEL	1056	broad.mit.edu	37	9	135941982	135941982	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr9:135941982delG	ENST00000372080.4	+	5	629	c.613delG	c.(613-615)ggfs	p.G206fs	CEL_ENST00000351304.7_Frame_Shift_Del_p.G203fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	203					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)		CGCGGCCTTCGGGGGGGACCC	0.642													7	521	---	---	---	---					
ARID5B	84159	broad.mit.edu	37	10	63852298	63852298	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:63852298delA	ENST00000279873.7	+	10	3486	c.3076delA	c.(3076-3078)aafs	p.K1027fs	ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K784fs	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1027					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)					GATTGCAGGGAAAAAGGCCCG	0.607													7	337	---	---	---	---					
DOCK1	1793	broad.mit.edu	37	10	129224241	129224241	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr10:129224241delA	ENST00000280333.6	+	47	4926	c.4817delA	c.(4816-4818)gafs	p.E1606fs		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1606	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAGCTGAAGGAAAAGGTGGAG	0.532													7	402	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546506	11546508	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:11546506_11546508delTTG	ENST00000389362.4	-	3	539_541	c.504_506delCAA	c.(502-507)aag>aa	p.NK168del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTCGGGACTTGTTGTCTCCTT	0.596													14	1046	---	---	---	---					
MBD6	114785	broad.mit.edu	37	12	57921001	57921002	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:57921001_57921002insC	ENST00000355673.3	+	7	2429_2430	c.2073_2074insC	c.(2071-2076)acccccfs	p.TP691fs	MBD6_ENST00000431731.2_Frame_Shift_Ins_p.TP691fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	691	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding	p.Q694fs*23(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCTCGGGGACACCCCCCCAGGT	0.559													16	24	---	---	---	---					
PLBD2	196463	broad.mit.edu	37	12	113810537	113810537	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr12:113810537delG	ENST00000280800.3	+	3	499	c.468delG	c.(466-468)aafs	p.K156fs	PLBD2_ENST00000545182.2_Frame_Shift_Del_p.K156fs	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	156					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AGAGGCTGAAGAGCTTCCTGG	0.567													224	113	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr14:72190482_72190484delTCC	ENST00000555818.1	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)del	p.S1468del	SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000554874.1_3'UTR	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1468	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552													7	330	---	---	---	---					
NLRP1	22861	broad.mit.edu	37	17	5463204	5463204	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:5463204delT	ENST00000345221.3	-	4	1366	c.812delA	c.(811-813)atfs	p.N271fs	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Frame_Shift_Del_p.N271fs|NLRP1_ENST00000262467.5_Frame_Shift_Del_p.N271fs|NLRP1_ENST00000354411.3_Frame_Shift_Del_p.N271fs|NLRP1_ENST00000577119.1_Frame_Shift_Del_p.N271fs|NLRP1_ENST00000572272.1_Frame_Shift_Del_p.N271fs	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	271					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AAAATCCTCATTTTTCCAGGG	0.537													7	621	---	---	---	---					
TRPV2	51393	broad.mit.edu	37	17	16335490	16335492	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr17:16335490_16335492delTGC	ENST00000338560.7	+	12	2264_2266	c.1865_1867delTGC	c.(1864-1869)gtg>g	p.VL622del	TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del|TRPV2_ENST00000583241.1_3'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	622					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CGCGGCATGGTGCTGCTGCTGCT	0.596													12	199	---	---	---	---					
LINC00669	647946	broad.mit.edu	37	18	37224506	37224508	+	RNA	DEL	TCC	TCC	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr18:37224506_37224508delTCC	ENST00000591629.1	-	0	282					NR_024391.1																						ctcctcttcttcctcctcctctg	0.369													2	4	---	---	---	---					
ZNF43	7594	broad.mit.edu	37	19	22002025	22002026	+	Splice_Site	INS	-	-	A			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:22002025_22002026insA	ENST00000594012.1	-	5	500		c.e5-2		ZNF43_ENST00000595461.1_Splice_Site|ZNF43_ENST00000598288.1_Splice_Site|ZNF43_ENST00000354959.4_Splice_Site|ZNF43_ENST00000598381.1_Splice_Site	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACAA	0.386													7	237	---	---	---	---					
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr19:35940788_35940790delCTG	ENST00000599180.1	+	2	252_254	c.172_174delCTG	c.(172-174)del	p.L62del	FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	62						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645													7	107	---	---	---	---					
NKX2-2	4821	broad.mit.edu	37	20	21493012	21493013	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FR-A3R1-01A-11D-A23B-08	TCGA-FR-A3R1-10B-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e69d5db-81ff-46bd-92ff-2d7e9bf230a2	4b627221-d0a9-42ac-9ceb-3ca76c0187e5	g.chr20:21493012_21493013insC	ENST00000377142.4	-	2	726_727	c.370_371insG	c.(370-372)cgcfs	p.R124fs		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	124					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	p.D124fs*>151(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CTTGCCGGCGTCCCCCCCGCCG	0.703													13	30	---	---	---	---