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
SCTR	6344	broad.mit.edu	37	2	120221710	120221710	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:120221710C>T	ENST00000019103.5	-	6	892	c.625G>A	c.(625-627)Gat>Aat	p.D209N		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	209					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CTGTGGGCATCGCAGTAGGTG	0.572000													28	89					0	0	0.001512	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618821	77618821	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:77618821G>A	ENST00000521891.2	+	2	2946	c.2498G>A	c.(2497-2499)gGa>gAa	p.G833E	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G833E|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G833E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G833E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	833						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGCCTGACCGGAATGAAGCTG	0.552000										HNSCC(33;0.089)			9	22					0	0	0.000274275	0	0
LAMA3	3909	broad.mit.edu	37	18	21438687	21438687	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:21438687G>A	ENST00000313654.9	+	34	4557	c.4316G>A	c.(4315-4317)cGa>cAa	p.R1439Q	LAMA3_ENST00000399516.3_Missense_Mutation_p.R1439Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1439	Domain III B.|Laminin EGF-like 12.				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)	AATGTGTGTCGAGAAGGCTCA	0.408000													30	80					0	0	0.00283554	0	0
FAM196A	642938	broad.mit.edu	37	10	128973494	128973494	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:128973494C>T	ENST00000522781.1	-	4	1721	c.1166G>A	c.(1165-1167)gGa>gAa	p.G389E	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.G389E	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	389										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATGGGCCTCTCCTTTTTCCAA	0.488000													40	148					0	0	0.000680045	0	0
AKAP3	10566	broad.mit.edu	37	12	4737889	4737889	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:4737889C>T	ENST00000545990.2	-	5	703	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	AKAP3_ENST00000228850.1_Missense_Mutation_p.R60Q	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	60					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GGGTTTGAACCGAACATCTTG	0.502000													16	51					0	0	0.000308642	0	0
ARPC4	10093	broad.mit.edu	37	3	9839372	9839372	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:9839372C>T	ENST00000397261.3	+	2	597	c.33C>T	c.(31-33)gcC>gcT	p.A11A	ARPC4_ENST00000287613.7_5'UTR|ARPC4-TTLL3_ENST00000397256.1_Silent_p.A11A|ARPC4_ENST00000498623.2_5'UTR|ARPC4_ENST00000433034.1_Silent_p.A30A	NM_005718.4	NP_005709.1			actin related protein 2/3 complex, subunit 4, 20kDa											breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					ACCTGAGTGCCGTGCGGGCCA	0.552000													25	72					0	0	0.00106085	0	0
ETV6	2120	broad.mit.edu	37	12	11905391	11905391	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:11905391G>A	ENST00000396373.4	+	2	315	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	ETV6_ENST00000544715.1_3'UTR	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	14						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CAGCAGGAACGAATTTCATAT	0.532000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								23	70					0	0	0.00278032	0	0
SLC2A3	6515	broad.mit.edu	37	12	8085617	8085617	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:8085617A>T	ENST00000075120.7	-	3	475	c.235T>A	c.(235-237)Ttt>Att	p.F79I		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	79					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CCGACGGAAAAGGAGCCGATC	0.542000											OREG0021656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	44					0	0	0.00229938	0	0
MATN2	4147	broad.mit.edu	37	8	98973703	98973703	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:98973703C>T	ENST00000254898.5	+	5	1134	c.903C>T	c.(901-903)ttC>ttT	p.F301F	MATN2_ENST00000524308.1_Silent_p.F301F|MATN2_ENST00000521689.1_Silent_p.F301F|MATN2_ENST00000522025.2_Silent_p.F17F|MATN2_ENST00000520016.1_Silent_p.F301F	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	301	EGF-like 2.					proteinaceous extracellular matrix	calcium ion binding	p.F301L(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CGGGCTCCTTCGTCTGCCAGT	0.557000													16	73					0	0	0.000422831	0	0
FCN1	2219	broad.mit.edu	37	9	137803030	137803030	+	Missense_Mutation	SNP	C	C	T	rs140102154		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr9:137803030C>T	ENST00000371806.3	-	8	773	c.682G>A	c.(682-684)Gag>Aag	p.E228K		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	228	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TTCTCTGCCTCGTCAGCCACC	0.547000													63	187					0	0	0.000781405	0	0
ABCA13	154664	broad.mit.edu	37	7	48312792	48312792	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:48312792C>T	ENST00000435803.1	+	17	3553	c.3529C>T	c.(3529-3531)Cat>Tat	p.H1177Y		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1177					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCTCTTCATCATGGTTTCAC	0.378000													27	57					0	0	0.000586117	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76513354	76513354	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:76513354G>A	ENST00000307431.8	+	13	2183	c.1798G>A	c.(1798-1800)Gga>Aga	p.G600R	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.G604R|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G528R|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G552R	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	601	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TAAGCACAGAGGAAATACTTC	0.333000													50	177					0	0	0.000781405	0	0
KEL	3792	broad.mit.edu	37	7	142641823	142641823	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:142641823C>T	ENST00000355265.2	-	12	1794	c.1320G>A	c.(1318-1320)atG>atA	p.M440I		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	440					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGAATAATTTCATGGCCTGTG	0.592000													9	26					0	0	0.000978159	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884007	228884007	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:228884007C>T	ENST00000392056.3	-	7	1609	c.1563G>A	c.(1561-1563)atG>atA	p.M521I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.M521I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	521						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCACTTGCTCCATTTTGAGTC	0.517000													12	46					0	0	0.00136819	0	0
CCDC170	80129	broad.mit.edu	37	6	151907184	151907184	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:151907184G>A	ENST00000367290.5	+	7	1342	c.1253G>A	c.(1252-1254)gGa>gAa	p.G418E	CCDC170_ENST00000239374.7_Missense_Mutation_p.G418E			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	418																	CTGGTTTCTGGAGGTGTTTTG	0.463000													14	61					0	0	0.000308642	0	0
STX6	10228	broad.mit.edu	37	1	180974451	180974451	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:180974451C>T	ENST00000258301.5	-	2	421	c.184G>A	c.(184-186)Gag>Aag	p.E62K	STX6_ENST00000542060.1_Intron	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6	62					Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						TCAAGGTCCTCTAGATCCCAC	0.473000													42	143					0	0	0.000781405	0	0
BCAS3	54828	broad.mit.edu	37	17	59067416	59067416	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:59067416C>T	ENST00000589222.1	+	15	1374	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	BCAS3_ENST00000588462.1_Missense_Mutation_p.P436S|BCAS3_ENST00000585744.1_Missense_Mutation_p.P207S|BCAS3_ENST00000390652.5_Missense_Mutation_p.P436S|BCAS3_ENST00000407086.3_Missense_Mutation_p.P436S|BCAS3_ENST00000408905.3_Missense_Mutation_p.P436S|BCAS3_ENST00000588874.1_Missense_Mutation_p.P207S			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	436						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CCCCATCAACCCTTATGGTGG	0.498000													25	62					0	0	0.000720815	0	0
ZNF687	57592	broad.mit.edu	37	1	151261704	151261704	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:151261704C>T	ENST00000368879.2	+	4	2526	c.2428C>T	c.(2428-2430)Cac>Tac	p.H810Y		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	810					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCCCATGCCCACCTCTACTC	0.652000													10	35					0	0	0.000442599	0	0
GOLGB1	2804	broad.mit.edu	37	3	121448123	121448123	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:121448123G>A	ENST00000393667.3	-	4	424	c.314C>T	c.(313-315)aCt>aTt	p.T105I	GOLGB1_ENST00000340645.5_Missense_Mutation_p.T105I|GOLGB1_ENST00000472829.1_5'UTR	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	105					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATTCAAAGAAGTTAATTTGGC	0.368000													30	72					0	0	0.00127121	0	0
ASAH2	56624	broad.mit.edu	37	10	52005144	52005144	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:52005144G>A	ENST00000395526.3	-	2	197	c.198C>T	c.(196-198)cgC>cgT	p.R66R	ASAH2_ENST00000329428.6_Silent_p.R47R|ASAH2_ENST00000447815.1_Silent_p.R66R	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	66					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						TGGCTGTGGAGCGTTGGGCAG	0.502000													16	49					0	0	0.000566183	0	0
FMN1	342184	broad.mit.edu	37	15	33194231	33194231	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:33194231C>T	ENST00000334528.9	-	9	2718	c.2719G>A	c.(2719-2721)Gag>Aag	p.E907K	FMN1_ENST00000559047.1_Missense_Mutation_p.E1130K|FMN1_ENST00000561249.1_Missense_Mutation_p.E1032K	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	1130	FH1.|Pro-rich.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TGGGCTAACTCATGTAAAAAT	0.378000													19	60					0	0	0.00152264	0	0
DAXX	1616	broad.mit.edu	37	6	33287991	33287991	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:33287991C>T	ENST00000374542.5	-	5	1466	c.1262G>A	c.(1261-1263)gGa>gAa	p.G421E	DAXX_ENST00000266000.6_Missense_Mutation_p.G421E|DAXX_ENST00000414083.2_Missense_Mutation_p.G346E|DAXX_ENST00000477162.1_5'UTR	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	421	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GGATGCCATTCCACTAGGGCC	0.537000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								24	81					0	0	0.001512	0	0
LAD1	3898	broad.mit.edu	37	1	201352246	201352246	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:201352246C>T	ENST00000391967.2	-	7	1643	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	LAD1_ENST00000367313.3_Missense_Mutation_p.E462K|LAD1_ENST00000488842.1_5'UTR	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	448						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CCCGCCAGTTCCTTCTCAAAG	0.592000													47	102					0	0	0.0025221	0	0
GRIN1	2902	broad.mit.edu	37	9	140040228	140040228	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr9:140040228C>T	ENST00000371561.3	+	3	1541	c.444C>T	c.(442-444)tcC>tcT	p.S148S	GRIN1_ENST00000371553.3_Silent_p.S148S|GRIN1_ENST00000371555.4_Silent_p.S148S|GRIN1_ENST00000371559.4_Silent_p.S148S|GRIN1_ENST00000371560.3_Silent_p.S148S|GRIN1_ENST00000350902.5_Silent_p.S148S|GRIN1_ENST00000371550.4_Silent_p.S148S|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000315048.3_Silent_p.S148S|GRIN1_ENST00000371546.4_Silent_p.S148S	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	148					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CCCACCAGTCCAGCGTGTGGT	0.677000													7	33					0	0	0.000157383	0	0
BAIAP2	10458	broad.mit.edu	37	17	79080618	79080618	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:79080618T>A	ENST00000321300.6	+	12	1504	c.1411T>A	c.(1411-1413)Tac>Aac	p.Y471N	BAIAP2_ENST00000575245.1_Missense_Mutation_p.Y504N|BAIAP2_ENST00000416299.2_Missense_Mutation_p.Y334N|BAIAP2_ENST00000435091.3_Missense_Mutation_p.Y471N|BAIAP2_ENST00000428708.2_Missense_Mutation_p.Y471N|BAIAP2_ENST00000392411.3_Missense_Mutation_p.Y393N|BAIAP2_ENST00000575712.1_Missense_Mutation_p.Y471N|BAIAP2_ENST00000321280.7_Missense_Mutation_p.Y471N	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	471					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			ACCCCCCGATTACGGCGCCGC	0.697000													6	33					0	0	0.00116845	0	0
TPH2	121278	broad.mit.edu	37	12	72372731	72372731	+	Splice_Site	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:72372731G>A	ENST00000333850.3	+	7	946		c.e7-1			NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2						aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TGCCTTTTTAGAAAGGTCTGG	0.483000													28	97					0	0	0.001512	0	0
APOBR	55911	broad.mit.edu	37	16	28506027	28506027	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:28506027C>T	ENST00000564831.1	+	1	58	c.25C>T	c.(25-27)Cct>Tct	p.P9S	APOBR_ENST00000431282.1_Missense_Mutation_p.P9S|CLN3_ENST00000569430.1_Intron|APOBR_ENST00000328423.5_Missense_Mutation_p.P9S|CLN3_ENST00000567160.1_Intron	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	9					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCTATACCTCCCTGGGCTGCA	0.607000													16	76					0	0	0.000308642	0	0
ABCB1	5243	broad.mit.edu	37	7	87214929	87214929	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:87214929C>T	ENST00000265724.3	-	5	602	c.185G>A	c.(184-186)gGg>gAg	p.G62E	ABCB1_ENST00000543898.1_Missense_Mutation_p.G62E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	62	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AAGTCCAGCCCCATGGATGAT	0.393000													15	53					0	0	0.000422831	0	0
ADO	84890	broad.mit.edu	37	10	64564987	64564987	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:64564987C>T	ENST00000373783.1	+	1	472	c.168C>T	c.(166-168)agC>agT	p.S56S	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	56							cysteamine dioxygenase activity|metal ion binding			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGCTGAAGAGCCTCCTGACCC	0.711000													6	16					0	0	0.000157383	0	0
RFC2	5982	broad.mit.edu	37	7	73653299	73653299	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:73653299G>A	ENST00000055077.3	-	8	773	c.713C>T	c.(712-714)tCc>tTc	p.S238F	RFC2_ENST00000352131.3_Missense_Mutation_p.S204F	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	238					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						TGAGAAGGTGGACTGCAGGTT	0.468000													11	39					0	0	0.00136819	0	0
ACAA1	30	broad.mit.edu	37	3	38169329	38169329	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:38169329A>G	ENST00000333167.8	-	7	746	c.574T>C	c.(574-576)Ttt>Ctt	p.F192L	ACAA1_ENST00000544624.1_Missense_Mutation_p.F40L|ACAA1_ENST00000301810.7_Missense_Mutation_p.F159L|ACAA1_ENST00000450296.1_Missense_Mutation_p.F151L|ACAA1_ENST00000444607.2_3'UTR|ACAA1_ENST00000480865.1_5'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	192					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GAAATGCCAAACCGCTCAGCC	0.522000													22	51					0	0	0.00278032	0	0
OR2H1	26716	broad.mit.edu	37	6	29430419	29430419	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:29430419G>A	ENST00000377136.1	+	4	1338	c.873G>A	c.(871-873)agG>agA	p.R291R	OR2H1_ENST00000396792.2_Silent_p.R291R|OR2H1_ENST00000442615.1_Silent_p.R291R|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377132.1_Silent_p.R291R|OR2H1_ENST00000377133.1_Silent_p.R291R			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						ACACCCTGAGGAACAAGGAGA	0.483000													14	61					0	0	0.000308642	0	0
PARD3	56288	broad.mit.edu	37	10	34400253	34400253	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:34400253C>A	ENST00000374789.3	-	25	4240	c.3915G>T	c.(3913-3915)gaG>gaT	p.E1305D	PARD3_ENST00000545260.1_Missense_Mutation_p.E1215D|PARD3_ENST00000374788.3_Missense_Mutation_p.E1302D|PARD3_ENST00000374794.3_Missense_Mutation_p.E1193D|PARD3_ENST00000350537.4_Missense_Mutation_p.E1259D|PARD3_ENST00000346874.4_Missense_Mutation_p.E1268D|PARD3_ENST00000374790.3_Missense_Mutation_p.E1245D|PARD3_ENST00000545693.1_Missense_Mutation_p.E1289D	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1305					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGCTGGGCCCCTCGGAAGGAG	0.602000													17	52					0.000566183	0.00277475	0.000566183	1	0
AGAP11	119385	broad.mit.edu	37	10	88769689	88769689	+	RNA	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:88769689C>T	ENST00000444431.1	+	0	4289				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CTGCAGTCTCCTTGGTGTAAA	0.433000													37	103					0	0	0.00128727	0	0
CRLF2	64109	broad.mit.edu	37	X	1317494	1317494	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:1317494C>T	ENST00000381567.3	-	5	570	c.571G>A	c.(571-573)Gag>Aag	p.E191K	CRLF2_ENST00000467626.1_Intron	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	191	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TATACATCCTCCATAGCCTTC	0.507000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								18	78					0	0	0.000958276	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594448	140594448	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:140594448G>A	ENST00000341948.4	+	1	940	c.753G>A	c.(751-753)caG>caA	p.Q251Q		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		251	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAGAGTGCAGATCTCTGAGG	0.512000													58	101					0	0	0.000781405	0	0
OR13C5	138799	broad.mit.edu	37	9	107361685	107361685	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr9:107361685C>T	ENST00000374779.2	-	1	103	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GTGTGGTTTTCCCATTCCATT	0.363000													25	41					0	0	0.00127121	0	0
TAF4	6874	broad.mit.edu	37	20	60574056	60574056	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr20:60574056G>A	ENST00000252996.3	-	12	2895	c.2896C>T	c.(2896-2898)Ctg>Ttg	p.L966L		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	966					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GCCCTCATCAGGATCTCCCGC	0.557000													33	231					0	0	0.00178596	0	0
GCSAML	148823	broad.mit.edu	37	1	247737544	247737544	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:247737544G>A	ENST00000366491.2	+	7	705	c.208G>A	c.(208-210)Gag>Aag	p.E70K	GCSAML_ENST00000527541.1_Missense_Mutation_p.E58K|RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000366488.4_Missense_Mutation_p.E90K|GCSAML_ENST00000366489.1_Missense_Mutation_p.E70K|GCSAML_ENST00000463359.1_Missense_Mutation_p.E58K|GCSAML_ENST00000527084.1_Missense_Mutation_p.E58K|GCSAML_ENST00000536561.1_Missense_Mutation_p.E70K					germinal center-associated, signaling and motility-like																		TGATGGCTATGAGAACATTGA	0.458000													20	62					0	0	0.000958276	0	0
SH3RF1	57630	broad.mit.edu	37	4	170028067	170028067	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:170028067G>A	ENST00000284637.9	-	11	2770	c.2429C>T	c.(2428-2430)cCa>cTa	p.P810L		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	810						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)		GCGAGGAGGTGGAGCGATGGG	0.562000													27	82					0	0	0.001512	0	0
STARD13	90627	broad.mit.edu	37	13	33739502	33739502	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr13:33739502C>T	ENST00000336934.5	-	3	411	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	STARD13_ENST00000487412.1_5'UTR|STARD13_ENST00000399365.3_5'UTR|STARD13_ENST00000255486.4_Missense_Mutation_p.E91K	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	99	SAM.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGGTCCTTTTCAAGAAAATCA	0.378000													21	64					0	0	0.00188189	0	0
KLHL36	79786	broad.mit.edu	37	16	84691333	84691333	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:84691333G>A	ENST00000564996.1	+	3	1061	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	KLHL36_ENST00000258157.5_Missense_Mutation_p.R307Q	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	307										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GTCTCCGAGCGGTGTCTGGAG	0.677000													10	16					0	0	0.000442599	0	0
CORIN	10699	broad.mit.edu	37	4	47746429	47746429	+	Silent	SNP	G	G	A	rs148119573	byFrequency	TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:47746429G>A	ENST00000273857.4	-	5	788	c.789C>T	c.(787-789)aaC>aaT	p.N263N	CORIN_ENST00000502252.1_Silent_p.N196N|CORIN_ENST00000508498.1_Silent_p.N124N|CORIN_ENST00000505909.1_Silent_p.N263N|CORIN_ENST00000504584.1_Silent_p.N263N	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	263					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ATTGCTTTCCGTTTTCCTGCT	0.378000													32	103					0	0	0.00058488	0	0
HMCN1	83872	broad.mit.edu	37	1	186043883	186043883	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:186043883C>T	ENST00000271588.4	+	53	8379	c.8150C>T	c.(8149-8151)tCc>tTc	p.S2717F	HMCN1_ENST00000367492.2_Missense_Mutation_p.S2717F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2717	Ig-like C2-type 25.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCCTTAAATCCGATGATCAT	0.353000													11	38					0	0	0.00136819	0	0
IL1RL2	8808	broad.mit.edu	37	2	102851499	102851499	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:102851499G>A	ENST00000264257.2	+	11	1566	c.1440G>A	c.(1438-1440)ggG>ggA	p.G480G	IL1RL2_ENST00000441515.2_Silent_p.G362G|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Silent_p.G480G	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	480	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TCCAGGACGGGATGAAGGTTA	0.507000													19	57					0	0	0.00074312	0	0
SLC15A2	6565	broad.mit.edu	37	3	121647858	121647858	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:121647858G>A	ENST00000489711.1	+	16	1759	c.1371G>A	c.(1369-1371)ctG>ctA	p.L457L	SLC15A2_ENST00000295605.2_Silent_p.L426L|SLC15A2_ENST00000465060.1_3'UTR	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	457					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	AACTGCACCTGAAAACAAAAA	0.393000													40	122					0	0	0.00170553	0	0
RUNX2	860	broad.mit.edu	37	6	45514845	45514845	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:45514845C>T	ENST00000371438.1	+	8	1727	c.1369C>T	c.(1369-1371)Ccc>Tcc	p.P457S	RUNX2_ENST00000465038.2_Missense_Mutation_p.P457S|RUNX2_ENST00000371436.6_Missense_Mutation_p.P435S|RUNX2_ENST00000371432.3_Missense_Mutation_p.P421S|RUNX2_ENST00000359524.5_Missense_Mutation_p.P443S|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000541979.1_Missense_Mutation_p.P503S|RUNX2_ENST00000352853.5_Missense_Mutation_p.P525S	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	457	Interaction with MYST4.|Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTATCAGTTTCCCATGGTGCC	0.552000													20	47					0	0	0.00121646	0	0
SPAG17	200162	broad.mit.edu	37	1	118571014	118571014	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:118571014C>T	ENST00000336338.5	-	26	3678	c.3613G>A	c.(3613-3615)Gaa>Aaa	p.E1205K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1205						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCTACTTCTTCTTCCTGTAAA	0.408000													24	78					0	0	0.000586117	0	0
SERTM1	400120	broad.mit.edu	37	13	37269359	37269359	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr13:37269359C>T	ENST00000315190.3	+	2	590	c.144C>T	c.(142-144)ttC>ttT	p.F48F		NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN	serine-rich and transmembrane domain containing 1	48						integral to membrane											TGTCCATATTCCTCAGCCTTT	0.478000													42	170					0	0	0.0025221	0	0
NYAP2	57624	broad.mit.edu	37	2	226447216	226447216	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:226447216G>A	ENST00000272907.6	+	4	1496	c.1083G>A	c.(1081-1083)acG>acA	p.T361T	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	361	Pro-rich.																TGGAGGTCACGAAGCTTCCCG	0.642000													9	11					0	0	0.000442599	0	0
DNAH5	1767	broad.mit.edu	37	5	13850790	13850790	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:13850790C>T	ENST00000265104.4	-	31	5189	c.5085G>A	c.(5083-5085)caG>caA	p.Q1695Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1695	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATATTTCCAACTGGTCCAGCA	0.498000									Kartagener syndrome				11	44					0	0	0.000978159	0	0
DNAH3	55567	broad.mit.edu	37	16	20974933	20974933	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:20974933G>A	ENST00000261383.3	-	53	10272	c.10273C>T	c.(10273-10275)Cgt>Tgt	p.R3425C	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3425					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCAGATGCACGGACAATCTCT	0.552000													16	46					0	0	0.000422831	0	0
MTUS2	23281	broad.mit.edu	37	13	30072650	30072650	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr13:30072650G>A	ENST00000431530.3	+	12	3862	c.3804G>A	c.(3802-3804)aaG>aaA	p.K1268K	MTUS2_ENST00000380808.2_Silent_p.K237K|MTUS2_ENST00000400542.3_3'UTR|MTUS2_ENST00000542829.1_Silent_p.K147K	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1258						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCAAGAAAAGAAGATTCTTG	0.433000													16	48					0	0	0.000308642	0	0
VPS13D	55187	broad.mit.edu	37	1	12438576	12438576	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:12438576C>T	ENST00000358136.3	+	56	11142	c.11012C>T	c.(11011-11013)tCa>tTa	p.S3671L	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.S3646L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3670					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AATAAGCCCTCAGCCGCCCGC	0.522000													14	46					0	0	0.00244969	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595018	140595018	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:140595018C>T	ENST00000341948.4	+	1	1510	c.1323C>T	c.(1321-1323)atC>atT	p.I441I		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		441	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGTGCTGATCGCCGATGTCA	0.552000													39	47					0	0	0.00111076	0	0
EEA1	8411	broad.mit.edu	37	12	93244959	93244959	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:93244959C>T	ENST00000322349.8	-	9	990	c.726G>A	c.(724-726)ttG>ttA	p.L242L		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	242					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GCTCACGTTCCAAGGTCATGT	0.383000													20	44					0	0	0.000958276	0	0
ACPL2	92370	broad.mit.edu	37	3	141011495	141011495	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:141011495C>T	ENST00000508812.1	+	5	2771	c.864C>T	c.(862-864)tcC>tcT	p.S288S	ACPL2_ENST00000393007.1_Silent_p.S281S|ACPL2_ENST00000504264.1_Silent_p.S280S|ACPL2_ENST00000393010.2_Silent_p.S297S|ACPL2_ENST00000286353.4_Silent_p.S297S|ACPL2_ENST00000502783.1_Silent_p.S259S|RP11-438D8.2_ENST00000507698.1_RNA			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	297						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CCATAGACTCCATGCTCTGCC	0.512000													13	50					0	0	0.00136819	0	0
WBP11	51729	broad.mit.edu	37	12	14940385	14940385	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:14940385G>A	ENST00000261167.2	-	12	1773	c.1540C>T	c.(1540-1542)Ccc>Tcc	p.P514S	WBP11_ENST00000537574.1_Missense_Mutation_p.P480S	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	514	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GGTCCAAGGGGAGGCACCAAA	0.517000													38	96					0	0	0.00128727	0	0
DUSP8	1850	broad.mit.edu	37	11	1578765	1578765	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:1578765G>A	ENST00000397374.3	-	7	988	c.861C>T	c.(859-861)ttC>ttT	p.F287F	DUSP8_ENST00000331588.4_Silent_p.F287F|DUSP8_ENST00000528778.1_5'UTR	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	287	Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|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;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CCAGGAAGTTGAAGTTGGGCG	0.726000													4	17					0	0	0.000602214	0	0
ANK3	288	broad.mit.edu	37	10	61830618	61830618	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:61830618C>T	ENST00000280772.1	-	37	10212	c.10021G>A	c.(10021-10023)Gat>Aat	p.D3341N	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3341					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.D3341Y(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTGTTCATCGTCCACTTCC	0.408000													43	111					0	0	0.0025221	0	0
TRIML1	339976	broad.mit.edu	37	4	189063519	189063519	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:189063519G>A	ENST00000332517.3	+	3	758	c.618G>A	c.(616-618)gaG>gaA	p.E206E	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	206					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAGAGAAAGAGAACATGAGGA	0.448000													20	59					0	0	0.00121646	0	0
PKD1L2	114780	broad.mit.edu	37	16	81232606	81232606	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:81232606C>T	ENST00000599697.1	-	7	1203	c.1204G>A	c.(1204-1206)Ggc>Agc	p.G402S	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	402					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGTAGCGAGCCCTTTTGGGTG	0.527000													29	70					0	0	0.00209593	0	0
CCDC132	55610	broad.mit.edu	37	7	92970742	92970742	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:92970742G>C	ENST00000544910.1	+	24	2192	c.1972G>C	c.(1972-1974)Gtt>Ctt	p.V658L	CCDC132_ENST00000305866.5_Missense_Mutation_p.V688L|CCDC132_ENST00000535481.1_Missense_Mutation_p.V408L|CCDC132_ENST00000541136.1_Missense_Mutation_p.V499L|CCDC132_ENST00000474412.1_3'UTR	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	688										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTCAGGAAGTTTCAGCTGA	0.378000													6	20					0	0	0.00116845	0	0
ATP2A3	489	broad.mit.edu	37	17	3851089	3851089	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:3851089C>T	ENST00000309890.7	-	8	841	c.691G>A	c.(691-693)Gag>Aag	p.E231K	ATP2A3_ENST00000397035.3_Missense_Mutation_p.E231K|ATP2A3_ENST00000359983.3_Missense_Mutation_p.E231K|ATP2A3_ENST00000397043.3_Missense_Mutation_p.E231K|ATP2A3_ENST00000397041.3_Missense_Mutation_p.E231K|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Missense_Mutation_p.E231K	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	231					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TTGCCCAGCTCCGTGTGCAGG	0.667000													18	49					0	0	0.00188189	0	0
PARVG	64098	broad.mit.edu	37	22	44585106	44585106	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr22:44585106G>A	ENST00000422871.1	+	6	784	c.360G>A	c.(358-360)gaG>gaA	p.E120E	PARVG_ENST00000444313.2_Silent_p.E120E|PARVG_ENST00000415224.1_Silent_p.E120E	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	120	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TGCAGCTGGAGGAGTGGCAGG	0.632000													7	41					0	0	0.00198382	0	0
FGL2	10875	broad.mit.edu	37	7	76828570	76828570	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:76828570T>C	ENST00000248598.5	-	1	573	c.541A>G	c.(541-543)Aca>Gca	p.T181A	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	181					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						ACAACAAATGTTAGATTTGCC	0.358000													24	71					0	0	0.00278032	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102549592	102549592	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:102549592G>A	ENST00000334701.7	-	10	2181	c.1900C>T	c.(1900-1902)Cgg>Tgg	p.R634W	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.R512W|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.R333W	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	512					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	CCATGTTTCCGAAGACGTTCC	0.418000													37	98					0	0	0.000814825	0	0
CCDC37	348807	broad.mit.edu	37	3	126137359	126137359	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:126137359C>T	ENST00000393425.1	+	6	579	c.480C>T	c.(478-480)ttC>ttT	p.F160F	CCDC37_ENST00000352312.1_Silent_p.F159F|CCDC37_ENST00000505024.1_Silent_p.F160F			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	159										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GGCAAATGTTCCTCCTCCAGG	0.612000													7	22					0	0	0.000157383	0	0
LCT	3938	broad.mit.edu	37	2	136566094	136566094	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:136566094C>T	ENST00000264162.2	-	8	3833	c.3823G>A	c.(3823-3825)Gga>Aga	p.G1275R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1275	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCCCCACTCCGTTTTCGGTG	0.502000													43	116					0	0	0.00195071	0	0
MYO3A	53904	broad.mit.edu	37	10	26455097	26455097	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:26455097G>A	ENST00000265944.5	+	27	3267	c.3101G>A	c.(3100-3102)gGa>gAa	p.G1034E	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1034	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGGGCTCTTGGAAAAACAAAA	0.398000													35	101					0	0	0.0024448	0	0
KCNK18	338567	broad.mit.edu	37	10	118957018	118957018	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:118957018C>T	ENST00000334549.1	+	1	19	c.19C>T	c.(19-21)Ccc>Tcc	p.P7S		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	7						integral to membrane|plasma membrane		p.P7A(1)		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)		CTCGGGGCACCCCCAGGCCAG	0.632000													26	57					0	0	0.00106085	0	0
SSUH2	51066	broad.mit.edu	37	3	8667281	8667281	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:8667281C>T	ENST00000317371.4	-	17	1979	c.754G>A	c.(754-756)Gag>Aag	p.E252K	SSUH2_ENST00000415132.1_Missense_Mutation_p.E252K|SSUH2_ENST00000341795.3_Missense_Mutation_p.E252K|SSUH2_ENST00000544814.1_Missense_Mutation_p.E274K					ssu-2 homolog (C. elegans)																		GCAAGGAGCTCCCTGGGGCAG	0.507000													17	51					0	0	0.000958276	0	0
S1PR1	1901	broad.mit.edu	37	1	101705127	101705127	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:101705127C>T	ENST00000305352.6	+	2	962	c.587C>T	c.(586-588)cCg>cTg	p.P196L		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	196					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						ACCGTGCTGCCGCTCTACCAC	0.562000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	78					0	0	0.00127121	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395946	47395946	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:47395946C>T	ENST00000310638.4	-	12	1432	c.1401G>A	c.(1399-1401)ctG>ctA	p.L467L	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Silent_p.L468L	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	467					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	p.L467L(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TGGCCACCTTCAGCTCGTTCA	0.537000													34	86					0	0	0.00111076	0	0
NMRK2	27231	broad.mit.edu	37	19	3942207	3942207	+	Missense_Mutation	SNP	G	G	A	rs144739333		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:3942207G>A	ENST00000168977.2	+	8	919	c.629G>A	c.(628-630)gGa>gAa	p.G210E	NMRK2_ENST00000593949.1_Missense_Mutation_p.G215E|NMRK2_ENST00000599576.1_3'UTR	NM_170678.2	NP_733778.1			nicotinamide riboside kinase 2																		AGGACACAGGGACCCGGACGC	0.637000													8	32					0	0	0.000274275	0	0
DDI1	414301	broad.mit.edu	37	11	103908037	103908037	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:103908037C>T	ENST00000302259.3	+	1	730	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	163					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GCTCAAGGAACGCAACCCTCC	0.612000													9	48					0	0	0.000442599	0	0
ALLC	55821	broad.mit.edu	37	2	3749980	3749980	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:3749980G>A	ENST00000252505.3	+	12	1165	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	354							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TCATCTGTTCGATAGCCTGAC	0.592000										HNSCC(21;0.051)			9	17					0	0	0.000442599	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101572532	101572532	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:101572532C>T	ENST00000326172.5	+	5	1277	c.1162C>T	c.(1162-1164)Cac>Tac	p.H388Y	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.H266Y|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.H288Y	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	388	Required for transcriptional activity (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CATGGTGGGGCACGAGATGGC	0.498000													24	90					0	0	0.00278032	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43568681	43568681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:43568681G>A	ENST00000409746.5	-	14	1071	c.1000C>T	c.(1000-1002)Cag>Tag	p.Q334*	PSTPIP2_ENST00000589328.1_Silent_p.I301I|PSTPIP2_ENST00000588801.1_Intron	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	334						membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TGATTTTACTGATAGAGCAAA	0.323000													24	63					0	0	0.000878237	0	0
OR4A5	81318	broad.mit.edu	37	11	51411595	51411595	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:51411595G>A	ENST00000319760.6	-	1	853	c.801C>T	c.(799-801)ttC>ttT	p.F267F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACACAGTCATGAACTTATCAG	0.368000													7	45					0	0	0.00198382	0	0
MAP3K12	7786	broad.mit.edu	37	12	53877250	53877250	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:53877250C>T	ENST00000267079.2	-	11	1622	c.1397G>A	c.(1396-1398)cGg>cAg	p.R466Q	MAP3K12_ENST00000547035.1_Missense_Mutation_p.R499Q|MAP3K12_ENST00000547488.1_Missense_Mutation_p.R499Q	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	466					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TGGGCACCTCCGCTCTAAAGC	0.572000													19	69					0	0	0.00121646	0	0
SIK1	150094	broad.mit.edu	37	21	44838407	44838407	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr21:44838407G>A	ENST00000270162.6	-	12	1609	c.1477C>T	c.(1477-1479)Ccc>Tcc	p.P493S		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	493					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GTGGTGGAGGGGGAGACGACT	0.637000													8	25					0	0	0.000442599	0	0
GRIK3	2899	broad.mit.edu	37	1	37271852	37271852	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:37271852C>T	ENST00000373091.3	-	14	2183	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	GRIK3_ENST00000373093.4_Missense_Mutation_p.E723K	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	723					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	ATGCCCTCCTCGTTGTTCTTC	0.592000													18	47					0	0	0.00152264	0	0
MAP3K19	80122	broad.mit.edu	37	2	135738822	135738822	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:135738822G>A	ENST00000375845.3	-	9	3519	c.3489C>T	c.(3487-3489)ttC>ttT	p.F1163F	MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392917.3_Silent_p.F295F|MAP3K19_ENST00000358371.4_Silent_p.F1050F|MAP3K19_ENST00000315513.3_Silent_p.F24F|MAP3K19_ENST00000392918.3_Silent_p.F297F|MAP3K19_ENST00000375844.3_Silent_p.F345F	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		TATATTTACAGAACACCATCT	0.403000													31	87					0	0	0.00178596	0	0
PRB3	5544	broad.mit.edu	37	12	11420800	11420800	+	RNA	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:11420800C>T	ENST00000381842.3	-	0	420				PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGACTGGTTTCCTCCTTGTGG	0.642000													53	105					0	0	0.000781405	0	0
HHLA3	11147	broad.mit.edu	37	1	70820748	70820748	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:70820748G>A	ENST00000359875.5	+	1	254	c.114G>A	c.(112-114)agG>agA	p.R38R	HHLA3_ENST00000361764.4_Silent_p.R38R|HHLA3_ENST00000432224.1_Silent_p.R38R|HHLA3_ENST00000486110.1_3'UTR|HHLA3_ENST00000531950.1_Silent_p.R38R|HHLA3_ENST00000370940.5_Silent_p.R38R	NM_001036645.1	NP_001031722.1	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3	38							protein binding			large_intestine(3)|lung(1)	4						AGATGCAGAGGATactcagtc	0.493000													7	36					0	0	0.00198382	0	0
RGS22	26166	broad.mit.edu	37	8	101020705	101020705	+	Silent	SNP	T	T	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:101020705T>C	ENST00000360863.6	-	15	2453	c.2259A>G	c.(2257-2259)ccA>ccG	p.P753P	RGS22_ENST00000523287.1_Silent_p.P572P|RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523437.1_Silent_p.P741P	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	753					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTCAAATGGTGGCTGTATTT	0.383000													27	54					0	0	0.000878237	0	0
MUC16	94025	broad.mit.edu	37	19	8969281	8969281	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:8969281C>T	ENST00000397910.4	-	79	43266	c.43063G>A	c.(43063-43065)Gat>Aat	p.D14355N	MUC16_ENST00000380951.5_Missense_Mutation_p.D996N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14451	SEA 15.			Missing (in Ref. 3; AAK74120).	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						CTCACCGCATCCTCAATATTC	0.473000													34	88					0	0	0.00058488	0	0
WIPI2	26100	broad.mit.edu	37	7	5269331	5269331	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:5269331G>A	ENST00000288828.4	+	12	1446	c.1214G>A	c.(1213-1215)gGa>gAa	p.G405E	WIPI2_ENST00000484262.1_Missense_Mutation_p.G346E|WIPI2_ENST00000382384.2_Missense_Mutation_p.G387E|WIPI2_ENST00000401525.3_Missense_Mutation_p.G387E|WIPI2_ENST00000404704.3_Missense_Mutation_p.G405E	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	405					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GCAGCTGCAGGAAAAGGTACT	0.567000													7	31					0	0	0.000157383	0	0
XIRP2	129446	broad.mit.edu	37	2	167992545	167992545	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:167992545G>A	ENST00000409195.1	+	3	624	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	XIRP2_ENST00000409756.2_Missense_Mutation_p.E179K|XIRP2-AS1_ENST00000525330.1_RNA|XIRP2_ENST00000409043.1_Missense_Mutation_p.E179K|XIRP2_ENST00000295237.9_Missense_Mutation_p.E179K|XIRP2_ENST00000420519.1_Missense_Mutation_p.E179K|XIRP2_ENST00000409728.1_Missense_Mutation_p.E179K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	4					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGTCACCTGAAAGTGGTCA	0.403000													20	73					0	0	0.00229938	0	0
MEP1A	4224	broad.mit.edu	37	6	46787310	46787310	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:46787310C>T	ENST00000230588.4	+	7	434	c.425C>T	c.(424-426)tCc>tTc	p.S142F		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	142	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CAGAACATTTCCATTGGCCAA	0.448000													21	88					0	0	0.00121646	0	0
GK2	2712	broad.mit.edu	37	4	80329214	80329214	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:80329214G>A	ENST00000358842.3	-	1	158	c.141C>T	c.(139-141)ttC>ttT	p.F47F		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	47					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTTCTTTTGGGAACTCTTGTG	0.438000													35	99					0	0	0.00283554	0	0
PDC	5132	broad.mit.edu	37	1	186413470	186413470	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:186413470C>T	ENST00000391997.2	-	4	469	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	PDC_ENST00000497198.1_Missense_Mutation_p.E76K|PDC_ENST00000456239.2_Missense_Mutation_p.E76K|PDC_ENST00000340129.5_Missense_Mutation_p.E128K	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	128					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		AGTTCCTTTTCAATTGTTTCT	0.398000													34	109					0	0	0.000692331	0	0
PM20D2	135293	broad.mit.edu	37	6	89855983	89855983	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:89855983C>T	ENST00000275072.4	+	1	215	c.120C>T	c.(118-120)gcC>gcT	p.A40A		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	40							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		GGCTGGGGGCCCTGAGCCGCG	0.731000													9	14					0	0	0.000442599	0	0
PRR14	78994	broad.mit.edu	37	16	30666149	30666149	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:30666149C>T	ENST00000542965.2	+	7	1314	c.858C>T	c.(856-858)atC>atT	p.I286I	PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Silent_p.I286I			Q9BWN1	PRR14_HUMAN	proline rich 14	286	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			AGTTGAAGATCGCCATCTCAG	0.632000													11	17					0	0	0.000673444	0	0
SLC6A13	6540	broad.mit.edu	37	12	347111	347111	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:347111G>A	ENST00000343164.4	-	5	596	c.544C>T	c.(544-546)Cct>Tct	p.P182S	SLC6A13_ENST00000445055.2_Missense_Mutation_p.P90S	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	182					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TCGATGACAGGAGAGGTGGCA	0.532000													40	99					0	0	0.00148497	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059214	152059214	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:152059214G>A	ENST00000368806.1	-	3	1008	c.944C>T	c.(943-945)cCa>cTa	p.P315L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	315							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGTCTGAGATGGTGACCTGGC	0.453000													62	219					0	0	0.000781405	0	0
FBXL5	26234	broad.mit.edu	37	4	15614011	15614011	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:15614011G>A	ENST00000341285.3	-	10	2001	c.1877C>T	c.(1876-1878)cCt>cTt	p.P626L	FBXL5_ENST00000382358.4_Missense_Mutation_p.P500L|FBXL5_ENST00000412094.2_Missense_Mutation_p.P609L	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	626					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CTCCAAATAAGGCAGCCCTCC	0.383000													16	37					0	0	0.000422831	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42285056	42285056	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:42285056G>A	ENST00000399518.3	-	13	1835	c.1349C>T	c.(1348-1350)tCc>tTc	p.S450F	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.S421F	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	438	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TGGGAACAGGGAGGGTAGCTT	0.562000													11	31					0	0	0.000978159	0	0
ADCY3	109	broad.mit.edu	37	2	25141737	25141737	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:25141737G>A	ENST00000260600.5	-	1	971	c.120C>T	c.(118-120)gtC>gtT	p.V40V		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	40					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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCGAGTTCCGGACCGAGATTT	0.632000													10	40					0	0	0.000442599	0	0
CH25H	9023	broad.mit.edu	37	10	90966606	90966606	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:90966606C>T	ENST00000371852.2	-	1	465	c.444G>A	c.(442-444)aaG>aaA	p.K148K		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	148					bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		GCCAGGGCACCTTGTGGTGCA	0.582000													19	75					0	0	0.00074312	0	0
JRKL	8690	broad.mit.edu	37	11	96124993	96124993	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:96124993G>A	ENST00000458427.1	+	1	1836	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	JRKL_ENST00000546177.1_Intron|JRKL_ENST00000332349.4_Missense_Mutation_p.E394K	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN	jerky homolog-like (mouse)	394					central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		TATGGTAGAGGAGAAAGAGAG	0.408000													21	87					0	0	0.00229938	0	0
F13A1	2162	broad.mit.edu	37	6	6222390	6222390	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:6222390C>T	ENST00000264870.3	-	8	1253	c.988G>A	c.(988-990)Gga>Aga	p.G330R		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	330					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GCTGGTATTCCAAGGCATCGT	0.403000													11	25					0	0	0.000673444	0	0
HSPB7	27129	broad.mit.edu	37	1	16342188	16342188	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:16342188G>A	ENST00000311890.9	-	3	1226	c.400C>T	c.(400-402)Ccg>Tcg	p.P134S	HSPB7_ENST00000375718.4_Missense_Mutation_p.P209S|HSPB7_ENST00000487046.1_Missense_Mutation_p.P139S|HSPB7_ENST00000411503.1_Missense_Mutation_p.P129S|HSPB7_ENST00000406363.2_Missense_Mutation_p.P138S	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	134					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		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;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		ACCGACGTCGGGTCCACGTCC	0.672000													21	47					0	0	0.00278032	0	0
MUC17	140453	broad.mit.edu	37	7	100686264	100686264	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:100686264C>T	ENST00000306151.4	+	3	11631	c.11567C>T	c.(11566-11568)tCc>tTc	p.S3856F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3856						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)					GGTTCATTCTCCATACCTGCT	0.463000													15	82					0	0	0.00244969	0	0
ASPHD1	253982	broad.mit.edu	37	16	29913198	29913198	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:29913198G>A	ENST00000308748.5	+	1	1158	c.906G>A	c.(904-906)gaG>gaA	p.E302E	ASPHD1_ENST00000483405.1_Silent_p.E21E	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	302					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CCCGGCTCGAGGGCCGCTGTG	0.637000													12	33					0	0	0.00244969	0	0
UBASH3A	53347	broad.mit.edu	37	21	43846841	43846841	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr21:43846841C>T	ENST00000319294.6	+	8	1113	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	UBASH3A_ENST00000291535.6_Missense_Mutation_p.S323F|UBASH3A_ENST00000398367.1_Missense_Mutation_p.S323F	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	361						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GACCTGAACTCCAGAAAGGAT	0.517000													21	58					0	0	0.00229938	0	0
GLRB	2743	broad.mit.edu	37	4	158057783	158057783	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:158057783C>T	ENST00000264428.4	+	5	730	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.H154Y|GLRB_ENST00000509282.1_Missense_Mutation_p.H154Y	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	154					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	p.H154Y(1)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TGCCAATTTTCATGATGTGAC	0.353000													49	125					0	0	0.000781405	0	0
SFTPA1	653509	broad.mit.edu	37	10	81371677	81371677	+	Silent	SNP	C	C	T	rs148741681		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:81371677C>T	ENST00000398636.3	+	3	234	c.96C>T	c.(94-96)atC>atT	p.I32I	SFTPA1_ENST00000419470.2_Silent_p.I47I|SFTPA1_ENST00000372308.3_Silent_p.I32I|SFTPA1_ENST00000372313.5_Intron|SFTPA1_ENST00000428376.2_Silent_p.I32I	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	32	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GCCCTGGTATCCCCGGCACTC	0.622000													29	105					0	0	0.00106085	0	0
ABHD11	83451	broad.mit.edu	37	7	73151395	73151395	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:73151395C>T	ENST00000222800.3	-	5	748	c.679G>A	c.(679-681)Gac>Aac	p.D227N	ABHD11_ENST00000437775.2_Missense_Mutation_p.D220N|ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000395147.4_Missense_Mutation_p.D170N	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	227							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				AAGCGCCCGTCTACCTCTACC	0.622000													25	58					0	0	0.00178596	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564304	46564304	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:46564304C>T	ENST00000458649.2	-	7	1681	c.1263G>A	c.(1261-1263)cgG>cgA	p.R421R	AMBRA1_ENST00000528950.1_Silent_p.R421R|AMBRA1_ENST00000533727.1_Silent_p.R331R|AMBRA1_ENST00000314845.3_Silent_p.R331R|AMBRA1_ENST00000298834.3_Silent_p.R421R|AMBRA1_ENST00000534300.1_Silent_p.R421R|AMBRA1_ENST00000426438.1_Silent_p.R421R			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	421					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TGAGTACTGTCCGGGTCCACT	0.592000													28	75					0	0	0.000878237	0	0
LPHN1	22859	broad.mit.edu	37	19	14269364	14269364	+	Splice_Site	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:14269364C>T	ENST00000340736.6	-	13	2462	c.2164_splice	c.e13-1	p.G722_splice	CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Splice_Site_p.G717_splice	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	722					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTTGACCACCCCTGGTGAGAA	0.617000													5	32					0	0	0.000602214	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175339	143175339	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:143175339G>A	ENST00000408916.1	+	1	374	c.374G>A	c.(373-375)aGg>aAg	p.R125K	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	125					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTGAAGTGGAGGTTCCCAGGG	0.512000													22	50					0	0	0.00229938	0	0
EFR3A	23167	broad.mit.edu	37	8	132996523	132996523	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:132996523C>T	ENST00000254624.5	+	15	1938	c.1713C>T	c.(1711-1713)ctC>ctT	p.L571L	EFR3A_ENST00000519656.1_Silent_p.L535L|EFR3A_ENST00000334503.4_Silent_p.L571L	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	571						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTATTGATCTCATTCGACTGG	0.348000													37	120					0	0	0.00128727	0	0
ADAM18	8749	broad.mit.edu	37	8	39502860	39502860	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:39502860C>T	ENST00000265707.5	+	11	958	c.913C>T	c.(913-915)Cca>Tca	p.P305S	ADAM18_ENST00000379866.1_Missense_Mutation_p.P281S|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	305	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATTTTAGTATCCAGATGCAAT	0.284000													16	56					0	0	0.000566183	0	0
HERC2P4	100289574	broad.mit.edu	37	16	32163811	32163811	+	RNA	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:32163811G>A	ENST00000564145.1	-	0	23																											GTGATGGAGCGGAGCTGGGAG	0.522000													13	78					0	0	0.00121646	0	0
BCL11A	53335	broad.mit.edu	37	2	60689097	60689097	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:60689097C>A	ENST00000335712.6	-	4	1177	c.950G>T	c.(949-951)aGg>aTg	p.R317M	BCL11A_ENST00000356842.4_Missense_Mutation_p.R317M|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.R283M|BCL11A_ENST00000538214.1_Missense_Mutation_p.R283M|BCL11A_ENST00000537768.1_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	317	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCTAAGTCTCCTAGAGAAATC	0.602000			T	IGH@	B-CLL								10	475					0.00136819	0.00669453	0.00136819	1	0
GOLGA4	2803	broad.mit.edu	37	3	37366132	37366132	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:37366132G>A	ENST00000361924.2	+	14	3129	c.2755G>A	c.(2755-2757)Gga>Aga	p.G919R	GOLGA4_ENST00000356847.4_Missense_Mutation_p.G941R|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	919	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AATGAGAGAAGGACAGAAGAA	0.343000													15	47					0	0	0.000308642	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21543247	21543247	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:21543247A>G	ENST00000298694.4	+	3	1485	c.1358A>G	c.(1357-1359)gAg>gGg	p.E453G	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.E453G			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	453					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						ACAGCAGGCGAGAAAGAGCCT	0.562000													20	47					0	0	0.00152264	0	0
LGI1	9211	broad.mit.edu	37	10	95553011	95553011	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:95553011G>T	ENST00000371418.4	+	7	1002	c.742G>T	c.(742-744)Gag>Tag	p.E248*	LGI1_ENST00000371413.3_Nonsense_Mutation_p.E248*|LGI1_ENST00000542308.1_Nonsense_Mutation_p.E200*	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	248					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TTTGAATGATGAGTATGTAGT	0.358000													25	74					3.6726e-16	1.82321e-15	0.000586117	1	0
COL4A4	1286	broad.mit.edu	37	2	227915811	227915811	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:227915811C>T	ENST00000396625.3	-	33	3239	c.3032G>A	c.(3031-3033)gGa>gAa	p.G1011E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1011E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1011	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)		TCTGTGAAATCCAGGTGGTCC	0.547000													39	116					0	0	0.00111076	0	0
SNAPC1	6617	broad.mit.edu	37	14	62259558	62259558	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:62259558C>T	ENST00000216294.4	+	9	1114	c.1010C>T	c.(1009-1011)cCt>cTt	p.P337L		NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	337					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		GAAGATAAACCTTTAAGTCTG	0.289000													42	94					0	0	0.00222228	0	0
CASQ1	844	broad.mit.edu	37	1	160171137	160171137	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:160171137G>A	ENST00000368079.3	+	11	1419	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	CASQ1_ENST00000467691.1_Missense_Mutation_p.E109K|CASQ1_ENST00000368078.3_Missense_Mutation_p.E388K	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	388	Asp-rich.					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GATCAACACAGAGGACGATGA	0.537000													9	26					0	0	0.000442599	0	0
AIFM2	84883	broad.mit.edu	37	10	71880966	71880966	+	Splice_Site	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:71880966G>A	ENST00000307864.1	-	4	509	c.294_splice	c.e4-1	p.A99_splice	AIFM2_ENST00000373248.1_Splice_Site_p.A99_splice	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	99					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						GAAGGGCAGGGCCTGAGAGAA	0.537000													4	25					0	0	0.00024832	0	0
PARVG	64098	broad.mit.edu	37	22	44585107	44585107	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr22:44585107G>A	ENST00000422871.1	+	6	785	c.361G>A	c.(361-363)Gag>Aag	p.E121K	PARVG_ENST00000444313.2_Missense_Mutation_p.E121K|PARVG_ENST00000415224.1_Missense_Mutation_p.E121K	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	121	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GCAGCTGGAGGAGTGGCAGGC	0.632000													7	40					0	0	0.00198382	0	0
CNNM1	26507	broad.mit.edu	37	10	101122106	101122106	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:101122106C>T	ENST00000356713.4	+	4	2270	c.1981C>T	c.(1981-1983)Ctc>Ttc	p.L661F	CNNM1_ENST00000446890.1_Missense_Mutation_p.L590F|CNNM1_ENST00000370528.3_Missense_Mutation_p.L590F|CNNM1_ENST00000370534.4_Missense_Mutation_p.L296F	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	661					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GGAACACTACCTCTACCAGCG	0.547000													8	33					0	0	0.000673444	0	0
SLC6A18	348932	broad.mit.edu	37	5	1243795	1243795	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:1243795C>T	ENST00000324642.3	+	9	1380	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	SLC6A18_ENST00000296821.4_Silent_p.F348F	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	419					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGACCATGTTCGGGACCGTGG	0.652000													23	67					0	0	0.00229938	0	0
TOX4	9878	broad.mit.edu	37	14	21960666	21960666	+	Splice_Site	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:21960666G>A	ENST00000405508.1	+	8	1167		c.e8-1		TOX4_ENST00000262709.3_Splice_Site|TOX4_ENST00000448790.2_Splice_Site			O94842	TOX4_HUMAN	TOX high mobility group box family member 4							chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TCTTCTTTTAGGCCACTGTGG	0.408000													23	86					0	0	0.00278032	0	0
TMEM104	54868	broad.mit.edu	37	17	72832595	72832595	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:72832595C>T	ENST00000335464.5	+	10	1422	c.1260C>T	c.(1258-1260)tcC>tcT	p.S420S	TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Silent_p.S420S|TMEM104_ENST00000582773.1_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	420						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					ACCTGGAGTCCCTGGTGGGCA	0.677000													6	44					0	0	0.00116845	0	0
CHID1	66005	broad.mit.edu	37	11	903030	903030	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:903030G>A	ENST00000449825.1	-	3	549	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	CHID1_ENST00000454838.2_Missense_Mutation_p.R90C|CHID1_ENST00000323578.8_Missense_Mutation_p.R65C|CHID1_ENST00000336845.5_Missense_Mutation_p.R90C|CHID1_ENST00000429789.2_Missense_Mutation_p.R65C|CHID1_ENST00000528581.1_Missense_Mutation_p.R90C|CHID1_ENST00000436108.2_Missense_Mutation_p.R65C|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000323541.7_Missense_Mutation_p.R95C	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	65					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)		CAGTAGCTGCGATGCTCAAGA	0.547000													23	41					0	0	0.00188189	0	0
STT3B	201595	broad.mit.edu	37	3	31670893	31670893	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:31670893G>A	ENST00000295770.2	+	14	2386	c.2177G>A	c.(2176-2178)gGa>gAa	p.G726E		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	726					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TACAGATTTGGAGAAATGCAG	0.323000													6	33					0	0	0.00198382	0	0
CARD10	29775	broad.mit.edu	37	22	37906324	37906324	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr22:37906324C>T	ENST00000403299.1	-	5	1020	c.804G>A	c.(802-804)aaG>aaA	p.K268K	CARD10_ENST00000494166.1_5'UTR|CARD10_ENST00000251973.5_Silent_p.K268K			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	268					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					tctccttctccttctccttct	0.617000													14	29					0	0	0.00185496	0	0
CHRNA10	57053	broad.mit.edu	37	11	3687591	3687591	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:3687591G>C	ENST00000250699.2	-	5	1170	c.1099C>G	c.(1099-1101)Cct>Gct	p.P367A	CHRNA10_ENST00000534359.1_3'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	367					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	TGGGGGCTAGGAGATAACTCA	0.692000													24	62					0	0	0.000586117	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243504406	243504406	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:243504406G>A	ENST00000366541.3	+	11	1405	c.1287G>A	c.(1285-1287)aaG>aaA	p.K429K	SDCCAG8_ENST00000355875.4_Silent_p.K386K|SDCCAG8_ENST00000343783.6_Silent_p.K284K	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	429	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CAAAGGAAAAGATTTCAGCTA	0.388000													12	57					0	0	0.00136819	0	0
MFSD12	126321	broad.mit.edu	37	19	3546112	3546112	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:3546112C>G	ENST00000355415.2	-	8	1418	c.1249G>C	c.(1249-1251)Ggg>Cgg	p.G417R	MFSD12_ENST00000389395.3_Missense_Mutation_p.G417R|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Missense_Mutation_p.G417R	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN	major facilitator superfamily domain containing 12	417					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						ACTGCCAGCCCATTGGCCACC	0.572000													23	66					0	0	0.00278032	0	0
CCP110	9738	broad.mit.edu	37	16	19547582	19547582	+	Silent	SNP	A	A	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:19547582A>G	ENST00000396212.2	+	5	1027	c.591A>G	c.(589-591)gaA>gaG	p.E197E	CCP110_ENST00000396208.2_Silent_p.E197E|CCP110_ENST00000381396.5_Silent_p.E197E	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	197	CEP97 binding.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CCCCACAAGAAACTCTTATTT	0.388000													24	133					0	0	0.00047179	0	0
MPLKIP	136647	broad.mit.edu	37	7	40172752	40172752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:40172752C>T	ENST00000306984.5	-	2	537	c.446G>A	c.(445-447)tGg>tAg	p.W149*		NM_138701.3	NP_619646.1	Q8TAP9	TTDN1_HUMAN	M-phase specific PLK1 interacting protein	149					cell division|mitosis	microtubule organizing center|nucleus											TAGGCCAGCCCAAGGATCTTC	0.383000													32	89					0	0	0.00178596	0	0
VEGFA	7422	broad.mit.edu	37	6	43749694	43749694	+	Splice_Site	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:43749694C>T	ENST00000372067.3	+	6	1458	c.962_splice	c.e6-1	p.P322_splice	VEGFA_ENST00000372055.4_Splice_Site_p.P363_splice|VEGFA_ENST00000425836.2_Splice_Site_p.P346_splice|VEGFA_ENST00000518689.1_Splice_Site_p.P160_splice|VEGFA_ENST00000523873.1_Splice_Site_p.P183_splice|VEGFA_ENST00000230480.6_Splice_Site_p.P114_splice|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000413642.3_Splice_Site_p.P340_splice|VEGFA_ENST00000520948.1_Splice_Site_p.P166_splice|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000518824.1_Splice_Site_p.P142_splice|VEGFA_ENST00000417285.2_Splice_Site_p.P322_splice|VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000523950.1_Splice_Site_p.P142_splice|VEGFA_ENST00000324450.6_Intron|VEGFA_ENST00000482630.2_Splice_Site_p.P322_splice|VEGFA_ENST00000523125.1_Splice_Site_p.P142_splice	NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5	NP_001020537.2|NP_001020538.2|NP_001020539.2|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4	P15692	VEGFA_HUMAN	vascular endothelial growth factor A	183					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	TTTTTGCAGTCCCTGTGGGCC	0.483000													16	39					0	0	0.00074312	0	0
TOX4	9878	broad.mit.edu	37	14	21960667	21960667	+	Splice_Site	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:21960667G>A	ENST00000405508.1	+	8	1168	c.891_splice	c.e8-1	p.A298_splice	TOX4_ENST00000262709.3_Splice_Site_p.A298_splice|TOX4_ENST00000448790.2_Splice_Site_p.A275_splice			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	298						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CTTCTTTTAGGCCACTGTGGA	0.413000													23	87					0	0	0.00278032	0	0
SLC25A31	83447	broad.mit.edu	37	4	128689940	128689940	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:128689940C>T	ENST00000281154.4	+	5	835	c.667C>T	c.(667-669)Ctt>Ttt	p.L223F		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	223					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	p.L223I(1)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						AACTCCATTTCTTGTCTCCTT	0.323000													18	52					0	0	0.00074312	0	0
TCP11	6954	broad.mit.edu	37	6	35088211	35088211	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:35088211G>A	ENST00000311875.5	-	7	1384	c.967C>T	c.(967-969)Cct>Tct	p.P323S	TCP11_ENST00000418521.2_Missense_Mutation_p.P247S|TCP11_ENST00000512012.1_Missense_Mutation_p.P310S|TCP11_ENST00000444780.2_Missense_Mutation_p.P318S|TCP11_ENST00000373979.2_Missense_Mutation_p.P248S|TCP11_ENST00000373974.4_Missense_Mutation_p.P277S|TCP11_ENST00000412155.2_Missense_Mutation_p.P272S|TCP11_ENST00000244645.3_Missense_Mutation_p.P248S			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	310					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CCTACCTCAGGGAACTCTTCA	0.557000													25	64					0	0	0.00127121	0	0
FOLH1B	219595	broad.mit.edu	37	11	89421804	89421804	+	RNA	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:89421804G>A	ENST00000532352.1	+	0	1474							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CCAACGACTTGGAATTGCTTC	0.299000													45	135					0	0	0.000781405	0	0
OR10G3	26533	broad.mit.edu	37	14	22038356	22038356	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:22038356G>A	ENST00000303532.1	-	1	519	c.520C>T	c.(520-522)Cag>Tag	p.Q174*		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		TAATCCACCTGATTGGGCCCA	0.572000													39	75					0	0	0.00111076	0	0
PCLO	27445	broad.mit.edu	37	7	82582045	82582045	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:82582045C>T	ENST00000423517.2	-	5	8561	c.8224G>A	c.(8224-8226)Gat>Aat	p.D2742N	PCLO_ENST00000333891.8_Missense_Mutation_p.D2742N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2673					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						ATACATTTATCAGTTGTTTTA	0.353000													16	38					0	0	0.000422831	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433164	72433164	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:72433164C>T	ENST00000373517.3	-	1	1520	c.1165G>A	c.(1165-1167)Gat>Aat	p.D389N	NAP1L2_ENST00000536638.1_Missense_Mutation_p.D247N	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	389					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					AGTAAAAAATCATCATTTCCA	0.378000													16	16					0	0	0.000422831	0	0
LMNB2	84823	broad.mit.edu	37	19	2456692	2456692	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:2456692C>T	ENST00000325327.3	-	1	302	c.240G>A	c.(238-240)gaG>gaA	p.E80E	LMNB2_ENST00000582871.1_Silent_p.E60E			Q03252	LMNB2_HUMAN	lamin B2	60	Coil 1B.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCTCCTTCTCTGAGATCT	0.741000													6	25					0	0	0.00116845	0	0
CD48	962	broad.mit.edu	37	1	160651006	160651006	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:160651006G>A	ENST00000368046.3	-	3	725	c.638C>T	c.(637-639)cCa>cTa	p.P213L	RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	213					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGTACAGGGTGGACTGAGGCA	0.517000													22	54					0	0	0.00047179	0	0
C11orf35	256329	broad.mit.edu	37	11	555754	555754	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:555754C>T	ENST00000329451.3	-	12	1616	c.1554G>A	c.(1552-1554)cgG>cgA	p.R518R		NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	518	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCGACTGACCCGGGGCTCCC	0.766000													3	10					0	0	6.4e-05	0	0
HDAC3	8841	broad.mit.edu	37	5	141008874	141008874	+	Splice_Site	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:141008874C>T	ENST00000305264.3	-	7	556		c.e7-1			NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3						anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor 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)|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	AGGGTGGTACCTAGAGGGAAG	0.547000													10	37					0	0	0.000673444	0	0
ITSN2	50618	broad.mit.edu	37	2	24438982	24438982	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:24438982A>G	ENST00000355123.4	-	32	4369	c.3926T>C	c.(3925-3927)cTt>cCt	p.L1309P	AC009228.1_ENST00000413254.1_RNA|AC009228.1_ENST00000430105.1_RNA|ITSN2_ENST00000361999.3_Missense_Mutation_p.L1282P|AC009228.1_ENST00000413989.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1309	DH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTCCATTAAGCTGGCAGCT	0.517000													17	59					0	0	0.000422831	0	0
IQCH	64799	broad.mit.edu	37	15	67768157	67768157	+	Splice_Site	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:67768157G>A	ENST00000335894.4	+	18	2865		c.e18+1		IQCH_ENST00000546225.1_Splice_Site|IQCH_ENST00000360277.4_Splice_Site|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000358767.3_Splice_Site	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H											NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TGATGTTGAGGTATGAAGGGT	0.463000													13	44					0	0	0.000308642	0	0
SPEG	10290	broad.mit.edu	37	2	220344734	220344734	+	Silent	SNP	G	G	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:220344734G>T	ENST00000312358.7	+	25	5346	c.5214G>T	c.(5212-5214)cgG>cgT	p.R1738R	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1738	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCAGGTGCGGATCTGTGACT	0.577000													16	51					2.39187e-15	1.18357e-14	0.00121646	1	0
ATP13A4	84239	broad.mit.edu	37	3	193151704	193151704	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:193151704C>T	ENST00000342695.4	-	25	3094	c.2772G>A	c.(2770-2772)gaG>gaA	p.E924E	ATP13A4_ENST00000392443.3_Silent_p.E905E	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	924					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGCTGTTTGTCTCCTGAAAAT	0.333000													8	78					0	0	0.000673444	0	0
RP11-287D1.3	0	broad.mit.edu	37	2	74589260	74589260	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:74589260G>A	ENST00000451608.2	-	4	356	c.357C>T	c.(355-357)gtC>gtT	p.V119V	DCTN1_ENST00000409868.1_Silent_p.V1184V|DCTN1_ENST00000407639.2_Silent_p.V1072V|DCTN1_ENST00000409240.1_Silent_p.V1164V|DCTN1_ENST00000409567.3_Silent_p.V1181V|DCTN1_ENST00000394003.3_Silent_p.V1199V|DCTN1_ENST00000409438.1_Silent_p.V1067V|DCTN1_ENST00000361874.3_Silent_p.V1206V																							TCTCCTTGAGGACCTCATCCT	0.557000													9	34					0	0	0.000442599	0	0
ZNF77	58492	broad.mit.edu	37	19	2933969	2933969	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:2933969C>A	ENST00000314531.4	-	4	1248	c.1156G>T	c.(1156-1158)Ggg>Tgg	p.G386W		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGCCTTCCCACACTGCTTG	0.502000													5	84					0.00198382	0.00969128	0.00198382	1	0
TRBV5-6	28609	broad.mit.edu	37	7	142131892	142131892	+	RNA	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:142131892G>A	ENST00000390375.2	-	0	26																											CAGAGGGACAGGAAGCACTGC	0.597000													10	35					0	0	0.000978159	0	0
NFIA	4774	broad.mit.edu	37	1	61798192	61798192	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:61798192G>A	ENST00000403491.3	+	4	1118	c.634G>A	c.(634-636)Ggc>Agc	p.G212S	NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000371185.2_Missense_Mutation_p.G190S|NFIA_ENST00000371191.1_Missense_Mutation_p.G235S|NFIA_ENST00000371187.3_Missense_Mutation_p.G212S|NFIA_ENST00000371189.4_Missense_Mutation_p.G257S|NFIA_ENST00000407417.3_Missense_Mutation_p.G204S|NFIA_ENST00000371184.2_Intron|NFIA_ENST00000485903.2_Missense_Mutation_p.G212S	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	212					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						AGGACATTTGGGCTTCCAGGA	0.338000													22	69					0	0	0.00229938	0	0
ADCY3	109	broad.mit.edu	37	2	25141736	25141736	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:25141736G>A	ENST00000260600.5	-	1	972	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	41					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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCCGAGTTCCGGACCGAGATT	0.637000													10	40					0	0	0.000442599	0	0
ABHD17A	81926	broad.mit.edu	37	19	1877619	1877619	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:1877619G>A	ENST00000292577.7	-	4	1028	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L	ABHD17A_ENST00000250974.9_Silent_p.L250L|ABHD17A_ENST00000590661.1_Silent_p.T167T	NM_001130111.1	NP_001123583.1			abhydrolase domain containing 17A																		CGCGAGGCCAGGTCCACGGTG	0.692000													5	25					0	0	0.00198382	0	0
NPAS2	4862	broad.mit.edu	37	2	101604640	101604640	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:101604640C>T	ENST00000335681.5	+	17	2014	c.1729C>T	c.(1729-1731)Ccc>Tcc	p.P577S	NPAS2_ENST00000542504.1_Missense_Mutation_p.P642S	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	577					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGTGACTCAGCCCCAGCTCGG	0.602000													26	76					0	0	0.000586117	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24532357	24532357	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:24532357G>A	ENST00000357578.3	+	9	1499	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	ALDH5A1_ENST00000348925.2_Missense_Mutation_p.E465K|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.E364K|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.E424K	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	452					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GTTCGATACAGAGGAGGAGGC	0.408000													16	40					0	0	0.000422831	0	0
TDRKH	11022	broad.mit.edu	37	1	151751698	151751698	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:151751698G>A	ENST00000368822.1	-	5	1075	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368823.1_Missense_Mutation_p.R144C|TDRKH_ENST00000368824.3_Missense_Mutation_p.R148C|TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000458431.2_Missense_Mutation_p.R148C|TDRKH_ENST00000368827.6_Missense_Mutation_p.R148C|TDRKH_ENST00000484421.1_5'UTR			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	148	KH 2.						RNA binding	p.R148C(1)		breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGATAGAACGAATTGTCTCG	0.398000													17	50					0	0	0.000958276	0	0
LRP1B	53353	broad.mit.edu	37	2	141819768	141819768	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:141819768C>T	ENST00000389484.3	-	8	2059	c.1088G>A	c.(1087-1089)aGg>aAg	p.R363K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	363					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)		ATCAATTATCCTTGTTCGGTT	0.408000										TSP Lung(27;0.18)			19	57					0	0	0.00152264	0	0
SYNGR1	9145	broad.mit.edu	37	22	39770497	39770497	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr22:39770497C>T	ENST00000328933.5	+	2	291	c.276C>T	c.(274-276)ttC>ttT	p.F92F	SYNGR1_ENST00000406293.3_Silent_p.F92F|SYNGR1_ENST00000216155.7_Silent_p.F92F|SYNGR1_ENST00000318801.4_Silent_p.F92F|SYNGR1_ENST00000381535.4_Silent_p.F93F	NM_004711.4	NP_004702.2			synaptogyrin 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					ACGTGTACTTCCCGCAGATCA	0.637000													25	59					0	0	0.000586117	0	0
EPPK1	83481	broad.mit.edu	37	8	144940435	144940435	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:144940435G>A	ENST00000525985.1	-	2	7058	c.6987C>T	c.(6985-6987)ctC>ctT	p.L2329L				P58107	EPIPL_HUMAN	epiplakin 1	2329						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCGGACGATGAGGTCCTTCT	0.697000													15	313					0	0	0.000566183	0	0
KIF2B	84643	broad.mit.edu	37	17	51901905	51901905	+	Missense_Mutation	SNP	G	G	A	rs143245314	byFrequency	TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:51901905G>A	ENST00000268919.4	+	1	1667	c.1511G>A	c.(1510-1512)cGg>cAg	p.R504Q		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	504					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTGGTGCTCCGGGACTCCTTT	0.473000													13	45					0	0	0.00244969	0	0
SMEK2	57223	broad.mit.edu	37	2	55808763	55808763	+	Silent	SNP	A	A	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:55808763A>T	ENST00000272313.5	-	8	1632	c.1305T>A	c.(1303-1305)gtT>gtA	p.V435V	SMEK2_ENST00000407823.3_Silent_p.V435V|SMEK2_ENST00000345102.5_Silent_p.V435V	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	435						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCATTAACTGAACAGCGCCTC	0.368000													30	73					0	0	0.001512	0	0
ZNF831	128611	broad.mit.edu	37	20	57769536	57769536	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr20:57769536C>T	ENST00000371030.2	+	1	3462	c.3462C>T	c.(3460-3462)tcC>tcT	p.S1154S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1154						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCTTGTCTTCCCACTCAGGGA	0.682000													22	50					0	0	0.00278032	0	0
OR51T1	401665	broad.mit.edu	37	11	4903102	4903102	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:4903102C>T	ENST00000380378.1	+	1	54	c.54C>T	c.(52-54)ttC>ttT	p.F18F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTTTTCTTTCCTCATAGTTC	0.308000													7	33					0	0	0.00198382	0	0
CDH6	1004	broad.mit.edu	37	5	31297434	31297434	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:31297434G>A	ENST00000265071.2	+	4	827	c.562G>A	c.(562-564)Gat>Aat	p.D188N	CDH6_ENST00000514738.1_Missense_Mutation_p.D133N	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	188	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.D188N(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGATGCAGATGATCCAACATA	0.378000													20	69					0	0	0.00152264	0	0
RMDN3	55177	broad.mit.edu	37	15	41044347	41044347	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:41044347C>T	ENST00000260385.6	-	2	1284	c.217G>A	c.(217-219)Gct>Act	p.A73T	RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Missense_Mutation_p.A73T					regulator of microtubule dynamics 3																		GCATCTCCAGCCCCACCTGGG	0.612000													9	20					0	0	0.000978159	0	0
FAM131C	348487	broad.mit.edu	37	1	16386002	16386002	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:16386002G>A	ENST00000375662.4	-	6	732	c.549C>T	c.(547-549)atC>atT	p.I183I	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	183										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		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;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGCTGGACGATGCCTTGGG	0.642000													7	15					0	0	0.000274275	0	0
GDF3	9573	broad.mit.edu	37	12	7843004	7843004	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:7843004C>T	ENST00000329913.3	-	2	612	c.565G>A	c.(565-567)Gat>Aat	p.D189N		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	189					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCATTCCAATCCTTAGCTACA	0.498000													29	93					0	0	0.00178596	0	0
RHBDF2	79651	broad.mit.edu	37	17	74473809	74473809	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:74473809G>A	ENST00000591885.1	-	7	1281	c.731C>T	c.(730-732)gCc>gTc	p.A244V	RHBDF2_ENST00000389760.4_Missense_Mutation_p.A244V|RHBDF2_ENST00000313080.4_Missense_Mutation_p.A273V			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	273					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GCTCGGGAAGGCAAAGCTGCG	0.622000													31	80					0	0	0.00058488	0	0
OLFM4	10562	broad.mit.edu	37	13	53608491	53608491	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr13:53608491C>T	ENST00000219022.2	+	2	291	c.213C>T	c.(211-213)tcC>tcT	p.S71S		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	71	Ser-rich.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		AGTTGTTTTCCAATTTCACCG	0.478000													24	79					0	0	0.000586117	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68028972	68028972	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:68028972C>T	ENST00000329153.5	+	7	756	c.624C>T	c.(622-624)gcC>gcT	p.A208A		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	208						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GCTCCCAGGCCCAGGGTCTGA	0.612000													6	21					0	0	0.00116845	0	0
SGIP1	84251	broad.mit.edu	37	1	67161104	67161104	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:67161104C>T	ENST00000435165.2	+	1	728	c.73C>T	c.(73-75)Cct>Tct	p.P25S	SGIP1_ENST00000371037.4_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371035.3_Intron			Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	521					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CGCTTCAACTCCTGGCCATAC	0.453000													16	29					0	0	0.000566183	0	0
RSF1	51773	broad.mit.edu	37	11	77378461	77378461	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:77378461C>T	ENST00000308488.6	-	16	4129	c.3827G>A	c.(3826-3828)cGa>cAa	p.R1276Q	RSF1_ENST00000360355.2_Missense_Mutation_p.R1245Q|RSF1_ENST00000480887.1_Missense_Mutation_p.R1024Q			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1276					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GTCTGTGCTTCGGCCCCGCTT	0.493000													29	75					0	0	0.0024448	0	0
SPEG	10290	broad.mit.edu	37	2	220344735	220344735	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:220344735A>C	ENST00000312358.7	+	25	5347	c.5215A>C	c.(5215-5217)Atc>Ctc	p.I1739L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1739	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCAGGTGCGGATCTGTGACTT	0.577000													16	52					0	0	0.00121646	0	0
ACTA1	58	broad.mit.edu	37	1	229567343	229567343	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:229567343G>A	ENST00000366684.3	-	7	1139	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	ACTA1_ENST00000366683.2_Missense_Mutation_p.S258F	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	346					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GGCCAGGATGGAGCCGCCGAT	0.637000													28	83					0	0	0.00283554	0	0
SLC30A4	7782	broad.mit.edu	37	15	45781073	45781073	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:45781073C>T	ENST00000261867.4	-	5	1174	c.860G>A	c.(859-861)gGt>gAt	p.G287D	RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	287					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TATTAGCACACCAACACTCTG	0.398000													26	78					0	0	0.00127121	0	0
CPN1	1369	broad.mit.edu	37	10	101829562	101829562	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:101829562T>C	ENST00000370418.3	-	3	736	c.485A>G	c.(484-486)aAc>aGc	p.N162S		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	162	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ATCAGGGAAGTTGCGGTTCAG	0.463000													25	100					0	0	0.000720815	0	0
MTMR2	8898	broad.mit.edu	37	11	95590720	95590720	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:95590720C>T	ENST00000393223.3	-	9	1096	c.434G>A	c.(433-435)aGg>aAg	p.R145K	MTMR2_ENST00000409459.1_Missense_Mutation_p.R145K|MTMR2_ENST00000346299.5_Missense_Mutation_p.R217K|MTMR2_ENST00000352297.7_Missense_Mutation_p.R145K|MTMR2_ENST00000484818.1_5'UTR	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	217						nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACATACCTGCCTTCTATACTC	0.343000													13	42					0	0	0.000566183	0	0
ZNF383	163087	broad.mit.edu	37	19	37734132	37734132	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:37734132C>T	ENST00000589413.1	+	8	1577	c.994C>T	c.(994-996)Cat>Tat	p.H332Y	ZNF383_ENST00000352998.3_Missense_Mutation_p.H332Y|ZNF383_ENST00000590503.1_Missense_Mutation_p.H332Y			Q8NA42	ZN383_HUMAN	zinc finger protein 383	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAGAGAATTCATACTGGTGA	0.433000													24	76					0	0	0.00106085	0	0
XIRP2	129446	broad.mit.edu	37	2	168100347	168100347	+	Silent	SNP	A	A	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:168100347A>G	ENST00000409195.1	+	9	2534	c.2445A>G	c.(2443-2445)caA>caG	p.Q815Q	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.Q593Q|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.Q815Q|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	640					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTGAAACCCAACCTTTGGAGA	0.373000													34	89					0	0	0.000692331	0	0
SEC23IP	11196	broad.mit.edu	37	10	121668556	121668556	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:121668556G>A	ENST00000369075.3	+	5	1177	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	SEC23IP_ENST00000543134.1_Missense_Mutation_p.E158K	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	369					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ATTATAGGCTGAATATAAAAA	0.363000													11	38					0	0	0.00136819	0	0
RELN	5649	broad.mit.edu	37	7	103275910	103275910	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:103275910G>A	ENST00000424685.2	-	19	2586	c.2427C>T	c.(2425-2427)ctC>ctT	p.L809L	RELN_ENST00000343529.5_Silent_p.L809L|RELN_ENST00000428762.1_Silent_p.L809L			P78509	RELN_HUMAN	reelin	809					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AATGCTCCAGGAGTTTCCAAG	0.428000													26	64					0	0	0.000720815	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458975	45458975	+	RNA	SNP	A	A	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:45458975A>T	ENST00000548424.1	+	0	448																											AGATCCTTGTATTTCCCCAGC	0.428000													6	19					0	0	0.000157383	0	0
KRTAP22-1	337979	broad.mit.edu	37	21	31973485	31973485	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr21:31973485G>A	ENST00000334680.2	+	1	72	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_181620.1	NP_853651.1	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	16						intermediate filament		p.G16*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	8						CTATGCCAAAGGAGGCCTGGG	0.483000													47	111					0	0	0.000781405	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18800874	18800874	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:18800874C>T	ENST00000433979.1	+	32	4366	c.4250C>T	c.(4249-4251)aCt>aTt	p.T1417I	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.T1458I|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.T1417I	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1417	C2.				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)				AAGAGTAAAACTGTATTTGTG	0.343000													10	33					0	0	0.000442599	0	0
RFWD2	64326	broad.mit.edu	37	1	175956239	175956239	+	Splice_Site	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:175956239C>T	ENST00000367669.3	-	18	2487	c.1972_splice	c.e18-1	p.G658_splice	RFWD2_ENST00000308769.8_Splice_Site_p.G634_splice	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	658					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATTTTCACTTCCTGAAAACAA	0.303000													9	34					0	0	0.000442599	0	0
GPR37L1	9283	broad.mit.edu	37	1	202096983	202096983	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:202096983C>T	ENST00000367282.4	+	2	851	c.745C>T	c.(745-747)Ctg>Ttg	p.L249L		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	249						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CCAATCCATCCTGGCCAAGTT	0.647000													10	44					0	0	0.000442599	0	0
MYH1	4619	broad.mit.edu	37	17	10408281	10408281	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:10408281C>T	ENST00000226207.5	-	22	2631	c.2537G>A	c.(2536-2538)aGt>aAt	p.S846N	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	846						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGTCTCTGCACTTTTGAGGAG	0.463000													32	72					0	0	0.00209593	0	0
KIAA2018	205717	broad.mit.edu	37	3	113379677	113379677	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:113379677C>T	ENST00000316407.4	-	7	1262	c.852G>A	c.(850-852)aaG>aaA	p.K284K	KIAA2018_ENST00000478658.1_Silent_p.K284K|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	284					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTTGTCCATTCTTATTTTCAG	0.423000													22	53					0	0	0.00188189	0	0
CAMK2B	816	broad.mit.edu	37	7	44266118	44266118	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:44266118G>A	ENST00000395749.2	-	20	1670	c.1594C>T	c.(1594-1596)Cca>Tca	p.P532S	CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000457475.1_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	532					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TACTTACATGGGGTGGGCAGG	0.711000													6	15					0	0	0.00198382	0	0
MAPK4	5596	broad.mit.edu	37	18	48252450	48252450	+	Silent	SNP	A	A	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:48252450A>C	ENST00000400384.2	+	5	2008	c.972A>C	c.(970-972)tcA>tcC	p.S324S	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Silent_p.S113S	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	324					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AGCCCACCTCACAACACCCCT	0.577000													19	48					0	0	0.00074312	0	0
GPHN	10243	broad.mit.edu	37	14	67431951	67431951	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:67431951G>A	ENST00000478722.1	+	9	1993	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.R271Q|GPHN_ENST00000305960.9_Missense_Mutation_p.R227Q|GPHN_ENST00000459628.1_Missense_Mutation_p.R273Q|GPHN_ENST00000315266.5_Missense_Mutation_p.R258Q	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	258	Interaction with GABARAP (By similarity).				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GTGCTCCCACGAGACACAGCC	0.468000			T	MLL	AL								33	67					0	0	0.000814825	0	0
BRE	9577	broad.mit.edu	37	2	28467657	28467657	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:28467657G>A	ENST00000344773.2	+	10	1000	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	BRE_ENST00000379624.1_Missense_Mutation_p.E288K|BRE_ENST00000379632.2_Missense_Mutation_p.E288K|BRE_ENST00000361704.2_Missense_Mutation_p.E288K|BRE_ENST00000342045.2_Missense_Mutation_p.E288K	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	288	UEV-like 2.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					AGGTGTCGTGGAATATGATGC	0.333000													34	61					0	0	0.00111076	0	0
PADI6	353238	broad.mit.edu	37	1	17723567	17723567	+	RNA	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:17723567G>A	ENST00000434762.2	+	0	1670							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CTTCCTACAGGAAGGGAAGCC	0.597000													5	16					0	0	0.00116845	0	0
DNTT	1791	broad.mit.edu	37	10	98084132	98084132	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:98084132G>A	ENST00000419175.1	+	6	1030	c.860G>A	c.(859-861)cGa>cAa	p.R287Q	DNTT_ENST00000371174.2_Missense_Mutation_p.R287Q	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	287	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)		AAATTTACACGAATGCAGAAA	0.453000													30	75					0	0	0.00127121	0	0
CXCL9	4283	broad.mit.edu	37	4	76927422	76927422	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:76927422G>A	ENST00000264888.5	-	2	108	c.70C>T	c.(70-72)Cca>Tca	p.P24S		NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	24					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTCACTACTGGGGTTCCTGAG	0.428000													34	107					0	0	0.00058488	0	0
LRP1B	53353	broad.mit.edu	37	2	141079576	141079576	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:141079576C>T	ENST00000389484.3	-	82	13567	c.12596G>A	c.(12595-12597)gGa>gAa	p.G4199E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4199					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)		CAAATATTTTCCTTCTGGACA	0.358000										TSP Lung(27;0.18)			28	66					0	0	0.001512	0	0
AQP6	363	broad.mit.edu	37	12	50369410	50369410	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:50369410G>A	ENST00000315520.5	+	4	1142	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	AQP6_ENST00000551733.1_Missense_Mutation_p.E95K	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	269					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CCTGAAGAAGGAATCCCAGCC	0.672000													13	25					0	0	0.00136819	0	0
MAGI1	9223	broad.mit.edu	37	3	65367622	65367622	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:65367622G>A	ENST00000330909.8	-	17	2714	c.2715C>T	c.(2713-2715)gtC>gtT	p.V905V	MAGI1_ENST00000483466.1_Silent_p.V905V|MAGI1_ENST00000497477.2_Silent_p.V877V|MAGI1_ENST00000402939.2_Silent_p.V877V	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	905					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GCATAAGCTGGACCACAAGCT	0.502000													17	69					0	0	0.00074312	0	0
PRKX	5613	broad.mit.edu	37	X	3539349	3539349	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:3539349A>T	ENST00000262848.5	-	6	1178	c.824T>A	c.(823-825)aTt>aAt	p.I275N	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	275	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CAGTTTCTTAATGAGGTCTCT	0.423000													25	13					0	0	0.000720815	0	0
ANGEL1	23357	broad.mit.edu	37	14	77275455	77275455	+	Missense_Mutation	SNP	G	G	A	rs143581712		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:77275455G>A	ENST00000251089.2	-	2	708	c.596C>T	c.(595-597)cCc>cTc	p.P199L		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	199										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GCCCTCAAAGGGCCAGATGGA	0.602000													5	27					0	0	0.00116845	0	0
TMEM11	8834	broad.mit.edu	37	17	21101819	21101819	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:21101819T>C	ENST00000317635.5	-	2	868	c.397A>G	c.(397-399)Aag>Gag	p.K133E	TMEM11_ENST00000584432.1_5'UTR	NM_003876.2	NP_003867.1	P17152	TMM11_HUMAN	transmembrane protein 11	133					mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						ACTTGGTACTTGCAGCAAGGG	0.592000													24	72					0	0	0.00229938	0	0
THOC5	8563	broad.mit.edu	37	22	29921844	29921844	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr22:29921844G>A	ENST00000490103.1	-	12	1280	c.1158C>T	c.(1156-1158)atC>atT	p.I386I	CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Silent_p.I386I|THOC5_ENST00000397872.1_Silent_p.I386I|THOC5_ENST00000397873.2_Silent_p.I386I	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	386					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGATGGGGGTGATCAGCTCCA	0.547000													27	78					0	0	0.00209593	0	0
ATP13A4	84239	broad.mit.edu	37	3	193153532	193153532	+	Splice_Site	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:193153532C>T	ENST00000342695.4	-	24	2996	c.2672_splice	c.e24-1	p.E892_splice	ATP13A4_ENST00000392443.3_Splice_Site_p.E873_splice	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	892					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCACGTCCTTCCCTGTGTAAG	0.403000													24	75					0	0	0.00278032	0	0
DNAH3	55567	broad.mit.edu	37	16	20976343	20976343	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:20976343C>T	ENST00000261383.3	-	53	8862	c.8863G>A	c.(8863-8865)Gaa>Aaa	p.E2955K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2955	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAATGTTTTCCTCCAAGTCC	0.512000													41	153					0	0	0.00148497	0	0
MTMR7	9108	broad.mit.edu	37	8	17198909	17198909	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:17198909C>T	ENST00000180173.5	-	6	729	c.695G>A	c.(694-696)gGa>gAa	p.G232E	MTMR7_ENST00000521857.1_Missense_Mutation_p.G232E|MTMR7_ENST00000523571.1_5'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	232	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GAAGTCACTTCCTGGATTGGC	0.557000													14	39					0	0	0.000422831	0	0
CDH6	1004	broad.mit.edu	37	5	31299677	31299677	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:31299677G>A	ENST00000265071.2	+	5	1015	c.750G>A	c.(748-750)ggG>ggA	p.G250G	CDH6_ENST00000514738.1_Silent_p.G195G	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	250	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GATTATCTGGGACCACCACCG	0.483000													21	59					0	0	0.00121646	0	0
CHRNA10	57053	broad.mit.edu	37	11	3688978	3688978	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:3688978G>A	ENST00000250699.2	-	4	450	c.379C>T	c.(379-381)Cca>Tca	p.P127S	CHRNA10_ENST00000534359.1_5'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	127					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GCGGAACCTGGAGGCTGCGCG	0.741000													8	10					0	0	0.000274275	0	0
CWH43	80157	broad.mit.edu	37	4	49046821	49046821	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:49046821C>T	ENST00000226432.4	+	14	2005	c.1822C>T	c.(1822-1824)Cat>Tat	p.H608Y	CWH43_ENST00000513409.1_Missense_Mutation_p.H581Y	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	608	Required for function in lipid remodeling (By similarity).				GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CAGCACTGATCATGACAGATG	0.373000													19	74					0	0	0.000958276	0	0
EEA1	8411	broad.mit.edu	37	12	93244958	93244958	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:93244958C>A	ENST00000322349.8	-	9	991	c.727G>T	c.(727-729)Gaa>Taa	p.E243*		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	243					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CGCTCACGTTCCAAGGTCATG	0.383000													21	43					2.4624e-09	1.2165e-08	0.00121646	1	0
GNAS	2778	broad.mit.edu	37	20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	rs11554273		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr20:57484420C>T	ENST00000371100.4	+	8	3082	c.2530C>T	c.(2530-2532)Cgt>Tgt	p.R844C	GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000371085.3_Missense_Mutation_p.R201C|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	201					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201C(228)|p.R844C(9)|p.R201S(5)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			20	72					0	0	0.00278032	0	0
KCNT1	57582	broad.mit.edu	37	9	138671233	138671233	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr9:138671233G>A	ENST00000298480.5	+	24	2832	c.2758G>A	c.(2758-2760)Gag>Aag	p.E920K	KCNT1_ENST00000490355.2_Missense_Mutation_p.E899K|KCNT1_ENST00000371757.2_Missense_Mutation_p.E920K|KCNT1_ENST00000491806.2_Missense_Mutation_p.E887K|KCNT1_ENST00000488444.2_Missense_Mutation_p.E901K|KCNT1_ENST00000487664.1_Missense_Mutation_p.E875K|KCNT1_ENST00000263604.3_Missense_Mutation_p.E901K|KCNT1_ENST00000486577.2_Missense_Mutation_p.E879K			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	920						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CATCACCACGGAGCTCACCCA	0.632000													32	103					0	0	0.000692331	0	0
PDC	5132	broad.mit.edu	37	1	186413597	186413597	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:186413597C>T	ENST00000391997.2	-	4	342	c.255G>A	c.(253-255)gaG>gaA	p.E85E	PDC_ENST00000497198.1_Silent_p.E33E|PDC_ENST00000456239.2_Silent_p.E33E|PDC_ENST00000340129.5_Silent_p.E85E	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	85					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		AGTTTTCATCCTCTTTCTCTT	0.358000													12	47					0	0	0.000978159	0	0
ABCA13	154664	broad.mit.edu	37	7	48314850	48314850	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:48314850C>T	ENST00000435803.1	+	17	5611	c.5587C>T	c.(5587-5589)Cac>Tac	p.H1863Y		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1863					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGATCATTTCCACCTGTCTCC	0.428000													27	70					0	0	0.000586117	0	0
USP6	9098	broad.mit.edu	37	17	5048111	5048111	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:5048111G>A	ENST00000574788.1	+	26	4175	c.1945G>A	c.(1945-1947)Gaa>Aaa	p.E649K	USP6_ENST00000332776.4_Missense_Mutation_p.E649K|USP6_ENST00000250066.6_Missense_Mutation_p.E649K|USP6_ENST00000304328.5_Missense_Mutation_p.E332K			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	649					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GCCATATGTGGAACTGAAGGA	0.443000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								32	81					0	0	0.00209593	0	0
PLEKHN1	84069	broad.mit.edu	37	1	906293	906293	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:906293C>T	ENST00000379409.2	+	5	669	c.639C>T	c.(637-639)ccC>ccT	p.P213P	PLEKHN1_ENST00000379407.2_Silent_p.P173P|PLEKHN1_ENST00000379410.3_Silent_p.P173P			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	213	PH 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TGCTCTGCCCCAGCCGGGCCG	0.721000													9	31					0	0	0.000673444	0	0
TRAK1	22906	broad.mit.edu	37	3	42244110	42244110	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:42244110C>T	ENST00000327628.5	+	13	2010	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Missense_Mutation_p.S479F|TRAK1_ENST00000449246.1_Missense_Mutation_p.S463F|TRAK1_ENST00000396175.1_Missense_Mutation_p.S479F	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	537					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CGCAGCGGCTCCCTCACACCC	0.632000													15	65					0	0	0.000566183	0	0
PCLO	27445	broad.mit.edu	37	7	82430905	82430905	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:82430905C>T	ENST00000333891.8	-	22	15273	c.14936G>A	c.(14935-14937)gGg>gAg	p.G4979E		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4902	C2 2.				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						TCCCATCTTCCCTCTGTTTAG	0.338000													20	54					0	0	0.00188189	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5303501	5303501	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:5303501C>T	ENST00000274181.7	+	19	3048	c.2910C>T	c.(2908-2910)tgC>tgT	p.C970C		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	970	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCAGCCTGTGCCCTCAGCCTG	0.706000													6	17					0	0	0.00116845	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147192	26147192	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:26147192C>T	ENST00000331351.5	+	2	1386	c.994C>T	c.(994-996)Cga>Tga	p.R332*	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	332					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GAGTGCCATTCGAATAGGGAT	0.552000													52	165					0	0	0.000781405	0	0
CUTC	51076	broad.mit.edu	37	10	101507035	101507035	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:101507035C>T	ENST00000370476.5	+	6	590	c.461C>T	c.(460-462)cCa>cTa	p.P154L		NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	154					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GTTCATGATCCAATGGCAGCT	0.423000													22	95					0	0	0.00229938	0	0
TTN	7273	broad.mit.edu	37	2	179610831	179610831	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:179610831C>T	ENST00000360870.5	-	46	16518	c.16296G>A	c.(16294-16296)gaG>gaA	p.E5432E	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8939	Ig-like 35.						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)			GACTTCCCTTCTCCTCGCTAA	0.408000													32	92					0	0	0.00058488	0	0
MGAT5	4249	broad.mit.edu	37	2	135093810	135093810	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:135093810T>C	ENST00000409645.1	+	6	848	c.596T>C	c.(595-597)tTa>tCa	p.L199S	MGAT5_ENST00000281923.2_Missense_Mutation_p.L199S			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	199					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TGTCCTCATTTACCTTGGAGA	0.353000													19	46					0	0	0.00229938	0	0
GGCX	2677	broad.mit.edu	37	2	85782649	85782649	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:85782649G>A	ENST00000233838.3	-	6	763	c.683C>T	c.(682-684)tCc>tTc	p.S228F	GGCX_ENST00000430215.3_Missense_Mutation_p.S171F	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	228					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	ATATTCCATGGAATAGCCTTC	0.463000													20	65					0	0	0.00152264	0	0
GAREM	64762	broad.mit.edu	37	18	29848121	29848121	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:29848121G>A	ENST00000399218.4	-	6	2396	c.2341C>T	c.(2341-2343)Cct>Tct	p.P781S	GAREM_ENST00000269209.6_Missense_Mutation_p.P782S	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		GATGAGAAAGGGTAGGAGGCA	0.552000													11	36					0	0	0.000673444	0	0
TXNDC2	84203	broad.mit.edu	37	18	9886630	9886630	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:9886630C>T	ENST00000306084.6	+	2	353	c.154C>T	c.(154-156)Cta>Tta	p.L52L	TXNDC2_ENST00000357775.4_5'UTR|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000536353.2_5'UTR|TXNDC2_ENST00000426718.3_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	52					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TCTCCTGGCCCTAGAGTTCTT	0.438000													15	66					0	0	0.00074312	0	0
CHML	1122	broad.mit.edu	37	1	241797947	241797947	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:241797947G>A	ENST00000366553.1	-	1	1285	c.1122C>T	c.(1120-1122)ccC>ccT	p.P374P	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	374					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GAAATAAAAAGGGGGTGTTGC	0.413000													15	59					0	0	0.000308642	0	0
IGHA2	3494	broad.mit.edu	37	14	106053596	106053596	+	RNA	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:106053596G>A	ENST00000390539.2	-	0	700																											GCACGTCAGCGTCACCAGCTC	0.667000													10	58					0	0	0.000978159	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664155	169664155	+	RNA	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:169664155G>A	ENST00000483289.2	-	0	3139				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						AGTTGCTACAGGTGAAGCGGT	0.498000													11	20					0	0	0.000978159	0	0
COL6A3	1293	broad.mit.edu	37	2	238253335	238253335	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:238253335C>T	ENST00000295550.4	-	36	7778	c.7326G>A	c.(7324-7326)ggG>ggA	p.G2442G	COL6A3_ENST00000346358.4_Silent_p.G2242G|COL6A3_ENST00000472056.1_Silent_p.G1835G|COL6A3_ENST00000347401.3_Silent_p.G2241G|COL6A3_ENST00000353578.4_Silent_p.G2236G|COL6A3_ENST00000409809.1_Silent_p.G2236G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2442	Nonhelical region.|VWFA 11.				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)		CCACCCGGGCCCCCCGTGGGC	0.562000													26	81					0	0	0.000720815	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499762	104499762	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr9:104499762G>A	ENST00000361820.3	-	1	1100	c.500C>T	c.(499-501)tCc>tTc	p.S167F		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	167					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ACTAGGGGAGGAGAAGGGCAA	0.597000													11	27					0	0	0.000978159	0	0
IP6K3	117283	broad.mit.edu	37	6	33694609	33694609	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:33694609C>T	ENST00000451316.1	-	5	1023	c.488G>A	c.(487-489)gGa>gAa	p.G163E	IP6K3_ENST00000293756.4_Missense_Mutation_p.G163E	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	163					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						AACCTGGTTTCCGTTGGTGTC	0.637000													22	74					0	0	0.00188189	0	0
PRR13	54458	broad.mit.edu	37	12	53837387	53837387	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:53837387C>T	ENST00000429243.2	+	3	440	c.232C>T	c.(232-234)Cct>Tct	p.P78S	RP11-793H13.8_ENST00000547717.1_RNA|PRR13_ENST00000546581.1_Intron|PRR13_ENST00000549135.1_Missense_Mutation_p.P78S|PRR13_ENST00000547368.1_Missense_Mutation_p.P92S|PRR13_ENST00000379786.4_Missense_Mutation_p.P28S|PRR13_ENST00000549068.1_Missense_Mutation_p.P19L|PRR13_ENST00000549924.1_Missense_Mutation_p.P78S|PRR13_ENST00000549581.1_Missense_Mutation_p.P28S|PRR13_ENST00000549740.1_Missense_Mutation_p.P78S|PRR13_ENST00000551003.1_Missense_Mutation_p.P46S|PCBP2_ENST00000541275.1_5'UTR	NM_001005354.2|NM_018457.3	NP_001005354.1|NP_060927.1	Q9NZ81	PRR13_HUMAN	proline rich 13	78	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(1)|urinary_tract(1)	6						GGGTCCCTACCCTCCTCCATA	0.607000													7	27					0	0	0.00244969	0	0
GABRA4	2557	broad.mit.edu	37	4	46979555	46979555	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:46979555C>T	ENST00000264318.3	-	4	1348	c.366G>A	c.(364-366)atG>atA	p.M122I		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	122					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCGTTACCATCATATTGTTCA	0.363000													12	56					0	0	0.000978159	0	0
NLRP5	126206	broad.mit.edu	37	19	56538654	56538654	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:56538654C>T	ENST00000390649.3	+	7	1055	c.1055C>T	c.(1054-1056)tCc>tTc	p.S352F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	352	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GAGATCATGTCCCGACCAGAA	0.547000													14	22					0	0	0.000422831	0	0
TAOK3	51347	broad.mit.edu	37	12	118673365	118673365	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:118673365G>A	ENST00000392533.3	-	8	1039	c.549C>T	c.(547-549)taC>taT	p.Y183Y	TAOK3_ENST00000419821.2_Silent_p.Y183Y	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	183	Protein kinase.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTACATACCAGTAAGGTGTGC	0.418000													16	63					0	0	0.000958276	0	0
TTN	7273	broad.mit.edu	37	2	179399545	179399545	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:179399545G>C	ENST00000589042.1	-	358	102021	c.101797C>G	c.(101797-101799)Cat>Gat	p.H33933D	TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H24993D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H32292D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H31365D|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H25060D|TTN_ENST00000460472.2_Missense_Mutation_p.H24868D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32292							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)			CCAATATTATGACTGTGTAAA	0.353000													24	105					0	0	0.000720815	0	0
DOCK11	139818	broad.mit.edu	37	X	117744354	117744354	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:117744354G>A	ENST00000276204.6	+	28	3143	c.3069G>A	c.(3067-3069)gtG>gtA	p.V1023V	DOCK11_ENST00000276202.7_Silent_p.V1023V			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1023					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CCAGAAATGTGAACTATAGTT	0.423000													22	25					0	0	0.000586117	0	0
TTC23	64927	broad.mit.edu	37	15	99678314	99678314	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:99678314C>T	ENST00000394132.2	-	14	2062	c.1245G>A	c.(1243-1245)tcG>tcA	p.S415S	TTC23_ENST00000558663.1_Silent_p.S415S|TTC23_ENST00000262074.4_Silent_p.S415S|TTC23_ENST00000394136.1_Silent_p.S415S|TTC23_ENST00000558613.1_Silent_p.S415S|TTC23_ENST00000394135.3_Silent_p.S415S			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	415							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GCCTTGGCTTCGAAGCAACCT	0.642000													11	49					0	0	0.000673444	0	0
FOXP2	93986	broad.mit.edu	37	7	114298171	114298171	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:114298171C>T	ENST00000408937.3	+	12	1766	c.1392C>T	c.(1390-1392)tcC>tcT	p.S464S	FOXP2_ENST00000393498.2_Silent_p.S418S|FOXP2_ENST00000393494.2_Silent_p.S439S|FOXP2_ENST00000403559.4_Silent_p.S456S|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393489.3_Silent_p.S347S|FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000350908.4_Silent_p.S439S	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	439					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TGGAGACATCCCCACAGAGCT	0.522000													29	81					0	0	0.00178596	0	0
EEF1A2	1917	broad.mit.edu	37	20	62126410	62126410	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr20:62126410G>A	ENST00000217182.3	-	4	534	c.369C>T	c.(367-369)ttC>ttT	p.F123F	EEF1A2_ENST00000298049.7_Silent_p.F123F	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	123						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TGCCCGCCTCGAACTCGCCCA	0.677000													25	67					0	0	0.000720815	0	0
IER3IP1	51124	broad.mit.edu	37	18	44683830	44683830	+	Missense_Mutation	SNP	C	C	T	rs149009126	byFrequency	TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:44683830C>T	ENST00000256433.3	-	2	266	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	IER3IP1_ENST00000588705.1_Missense_Mutation_p.R57Q	NM_016097.4	NP_057181.1	Q9Y5U9	IR3IP_HUMAN	immediate early response 3 interacting protein 1	57						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane				large_intestine(1)	1						TCTTACAGATCGAATAAGGTT	0.393000													22	58					0	0	0.00188189	0	0
SGSM1	129049	broad.mit.edu	37	22	25270513	25270513	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr22:25270513C>T	ENST00000400359.4	+	13	1430	c.1423C>T	c.(1423-1425)Ctc>Ttc	p.L475F	SGSM1_ENST00000400358.4_Intron	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	475						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						GGACACTACTCTCCCCACGCC	0.642000													5	10					0	0	0.00198382	0	0
CBL	867	broad.mit.edu	37	11	119144732	119144732	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:119144732C>T	ENST00000264033.4	+	4	1121	c.745C>T	c.(745-747)Cag>Tag	p.Q249*		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	249	Cbl-PTB.|SH2-like.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.Q249E(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CCGACTCTTTCAGGTAGGACA	0.368000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				8	98					0	0	0.000442599	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68784915	68784915	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:68784915C>T	ENST00000508048.1	-	8	760	c.725G>A	c.(724-726)gGa>gAa	p.G242E	TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.G243E|TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.G246E|RP11-453E17.1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	246	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GATTTTTGTTCCAAAACTAAC	0.348000													32	109					0	0	0.0024448	0	0
TMEM63C	57156	broad.mit.edu	37	14	77715719	77715719	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:77715719C>T	ENST00000298351.4	+	21	2100	c.1956C>T	c.(1954-1956)atC>atT	p.I652I		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	652						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		ACGAGCAGATCCACATGGCTG	0.547000													30	57					0	0	0.00178596	0	0
IL7R	3575	broad.mit.edu	37	5	35871316	35871316	+	Splice_Site	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:35871316G>A	ENST00000303115.3	+	4	666		c.e4+1		IL7R_ENST00000506850.1_Splice_Site|IL7R_ENST00000343305.4_Splice_Site	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor						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)			CAAATGGACGGTATGTAGTTC	0.358000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						14	27					0	0	0.000308642	0	0
SLC22A9	114571	broad.mit.edu	37	11	63176211	63176211	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:63176211G>A	ENST00000279178.3	+	9	1710	c.1461G>A	c.(1459-1461)atG>atA	p.M487I	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	487			M -> V (in a breast cancer sample; somatic mutation).		transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTCCCCTCATGATGATCCTAA	0.478000													23	42					0	0	0.00047179	0	0
H6PD	9563	broad.mit.edu	37	1	9324543	9324543	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:9324543C>T	ENST00000377403.2	+	5	2293	c.1991C>T	c.(1990-1992)gCc>gTc	p.A664V	H6PD_ENST00000602477.1_Missense_Mutation_p.A675V	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	664	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CGGCTCTGCGCCGAGGAGGAC	0.662000													14	96					0	0	0.00244969	0	0
COL28A1	340267	broad.mit.edu	37	7	7546791	7546791	+	Splice_Site	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:7546791C>T	ENST00000399429.3	-	10	1069	c.927_splice	c.e10-1	p.G310_splice		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	310	Collagen-like 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	p.G310E(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCCTGGGGATCCCTGTGGAAT	0.408000													29	101					0	0	0.00178596	0	0
TMCO5A	145942	broad.mit.edu	37	15	38229154	38229154	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:38229154G>A	ENST00000558158.1	+	4	401	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	TMCO5A_ENST00000319669.4_Missense_Mutation_p.E83K|TMCO5A_ENST00000540944.1_Missense_Mutation_p.E83K|TMCO5A_ENST00000559502.1_Missense_Mutation_p.E83K			Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	83						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						GGAGCTGGAGGAAGAAACAGC	0.478000													12	36					0	0	0.000308642	0	0
FRMPD1	22844	broad.mit.edu	37	9	37692733	37692733	+	Missense_Mutation	SNP	C	C	T	rs3747540		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr9:37692733C>T	ENST00000539465.1	+	2	688	c.95C>T	c.(94-96)tCg>tTg	p.S32L	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.S32L			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	32						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CGGGACAGCTCGGCCCGGTAA	0.547000													14	29					0	0	0.00244969	0	0
TRAV8-2	28684	broad.mit.edu	37	14	22314839	22314839	+	RNA	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:22314839G>A	ENST00000390434.3	+	0	121																											CAAAGCCAGGGACTTGTCCAG	0.552000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	12					0	0	6.4e-05	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37729993	37729993	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:37729993G>A	ENST00000330843.4	-	4	2339	c.2327C>T	c.(2326-2328)cCc>cTc	p.P776L	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	776					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TGCTCCCATGGGAAGAGGGGG	0.557000													15	69					0	0	0.000566183	0	0
SYT2	127833	broad.mit.edu	37	1	202566006	202566006	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:202566006G>A	ENST00000367267.1	-	9	1331	c.1139C>T	c.(1138-1140)gCc>gTc	p.A380V	SYT2_ENST00000367268.4_Missense_Mutation_p.A380V	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	380					neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TGTGCCCGTGGCATTGCTGCC	0.602000													14	62					0	0	0.00185496	0	0
GPR98	84059	broad.mit.edu	37	5	90070010	90070010	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:90070010C>T	ENST00000405460.2	+	60	12389	c.12293C>T	c.(12292-12294)tCc>tTc	p.S4098F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4098	Calx-beta 27.				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)		TAGACTGAGTCCCAGAAGACC	0.403000													14	24					0	0	0.000308642	0	0
UNC5B	219699	broad.mit.edu	37	10	73053200	73053200	+	Missense_Mutation	SNP	C	C	T	rs145494820	by1000genomes	TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:73053200C>T	ENST00000335350.6	+	12	2227	c.1811C>T	c.(1810-1812)tCg>tTg	p.S604L	UNC5B_ENST00000373192.4_Missense_Mutation_p.S593L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	604	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TTGAGCCCCTCGGTGACCTGT	0.622000													30	74					0	0	0.00209593	0	0
MME	4311	broad.mit.edu	37	3	154832934	154832934	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:154832934C>T	ENST00000460393.1	+	4	468	c.348C>T	c.(346-348)gtC>gtT	p.V116V	MME_ENST00000462745.1_Silent_p.V116V|MME_ENST00000493237.1_Silent_p.V116V|MME_ENST00000477669.1_3'UTR|MME_ENST00000360490.2_Silent_p.V116V|MME_ENST00000492661.1_Silent_p.V116V	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	116					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AACTAGAAGTCGTTTTGAAAG	0.363000													21	68					0	0	0.00229938	0	0
RRAGD	58528	broad.mit.edu	37	6	90097305	90097305	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:90097305C>T	ENST00000369415.4	-	2	429	c.153G>A	c.(151-153)ctG>ctA	p.L51L	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.2_Intron	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	51					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CACTGAAGTCCAGAACTGGAG	0.448000													58	201					0	0	0.000781405	0	0
ASTN1	460	broad.mit.edu	37	1	177001974	177001974	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:177001974G>A	ENST00000367654.2	-	3	496	c.483C>T	c.(481-483)atC>atT	p.I161I	ASTN1_ENST00000361833.2_Silent_p.I161I|ASTN1_ENST00000367657.3_Silent_p.I161I|ASTN1_ENST00000424564.2_Silent_p.I161I|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	161					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						GCAGCAGAGCGATCATGCCAC	0.582000													18	44					0	0	0.00152264	0	0
ZNF710	374655	broad.mit.edu	37	15	90611734	90611734	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:90611734C>T	ENST00000268154.4	+	2	1616	c.1365C>T	c.(1363-1365)ctC>ctT	p.L455L		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			ACCACATGCTCAAGCACCAGA	0.597000													23	69					0	0	0.000586117	0	0
ZNF155	7711	broad.mit.edu	37	19	44500360	44500360	+	Silent	SNP	T	T	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:44500360T>C	ENST00000270014.2	+	5	479	c.351T>C	c.(349-351)tcT>tcC	p.S117S	ZNF155_ENST00000407951.2_Silent_p.S128S|ZNF155_ENST00000590615.1_Silent_p.S117S	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN	zinc finger protein 155	117						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				CTCAGGACTCTATCATAAATA	0.468000													9	79					0	0	0.000442599	0	0
ABCB1	5243	broad.mit.edu	37	7	87214930	87214930	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:87214930C>T	ENST00000265724.3	-	5	601	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	ABCB1_ENST00000543898.1_Missense_Mutation_p.G62R	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	62	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.G62R(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AGTCCAGCCCCATGGATGATG	0.393000													15	53					0	0	0.000308642	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376702	8376702	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:8376702C>T	ENST00000538603.1	-	5	791	c.233G>A	c.(232-234)gGg>gAg	p.G78E	FAM90A1_ENST00000307435.6_Missense_Mutation_p.G78E	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	78							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GTTTTCCTTCCCTTCCTTTTC	0.547000													19	184					0	0	0.00152264	0	0
TTC12	54970	broad.mit.edu	37	11	113222880	113222880	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:113222880G>A	ENST00000393020.1	+	16	1802	c.1397G>A	c.(1396-1398)aGa>aAa	p.R466K	TTC12_ENST00000483239.2_Missense_Mutation_p.R472K|TTC12_ENST00000314756.3_Missense_Mutation_p.R466K|TTC12_ENST00000529221.1_Missense_Mutation_p.R466K|TTC12_ENST00000478125.1_3'UTR			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	466							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		ACTACCCGAAGACACATGGCG	0.498000													17	52					0	0	0.00074312	0	0
CNGA4	1262	broad.mit.edu	37	11	6261744	6261744	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:6261744G>A	ENST00000379936.2	+	4	835	c.720G>A	c.(718-720)agG>agA	p.R240R	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	240					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGCCAGCCAGGGAAGAAGAGT	0.562000													27	64					0	0	0.000586117	0	0
PSENEN	55851	broad.mit.edu	37	19	36237720	36237720	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:36237720C>T	ENST00000587708.2	+	4	961	c.278C>T	c.(277-279)tCc>tTc	p.S93F	AC002398.9_ENST00000591613.2_Intron|PSENEN_ENST00000222266.2_Missense_Mutation_p.S93F|PSENEN_ENST00000591949.1_3'UTR			Q9NZ42	PEN2_HUMAN	presenilin enhancer gamma secretase subunit	93					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	aspartic-type endopeptidase activity|protein binding			central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GACTACCTCTCCTTCACCATA	0.592000													12	48					0	0	0.00185496	0	0
SYT9	143425	broad.mit.edu	37	11	7324553	7324553	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:7324553G>A	ENST00000318881.6	+	2	666	c.429G>A	c.(427-429)ggG>ggA	p.G143G	SYT9_ENST00000396716.2_Silent_p.G111G	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	143						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CCCAGACGGGGATCCAGGAGA	0.597000													8	10					0	0	0.000157383	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053780	95053780	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:95053780G>A	ENST00000329597.7	+	3	291	c.81G>A	c.(79-81)atG>atA	p.M27I	SERPINA5_ENST00000553780.1_Missense_Mutation_p.M27I|SERPINA5_ENST00000554866.1_Missense_Mutation_p.M27I|SERPINA5_ENST00000554276.1_Missense_Mutation_p.M27I	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	27					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.M27I(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CCCGGGAGATGAAGAAGAGAG	0.612000													24	58					0	0	0.00278032	0	0
TNRC6C	57690	broad.mit.edu	37	17	76060964	76060964	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:76060964G>A	ENST00000335749.4	+	4	3117	c.2548G>A	c.(2548-2550)Gtg>Atg	p.V850M	TNRC6C_ENST00000588061.1_Missense_Mutation_p.V853M|TNRC6C_ENST00000541771.1_Missense_Mutation_p.V853M|TNRC6C_ENST00000588847.1_Missense_Mutation_p.V850M|TNRC6C_ENST00000544502.1_Missense_Mutation_p.V850M|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V853M	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	853	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGAGCCGCCGGTGGCATTTGG	0.597000													9	25					0	0	0.000274275	0	0
CYP1A2	1544	broad.mit.edu	37	15	75043542	75043542	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:75043542G>A	ENST00000343932.4	+	3	907	c.844G>A	c.(844-846)Gac>Aac	p.D282N		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	282					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CAGTGTCCGGGACATCACGGG	0.572000													18	34					0	0	0.00152264	0	0
TOR3A	64222	broad.mit.edu	37	1	179064332	179064332	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:179064332G>A	ENST00000367627.3	+	6	1925	c.1173G>A	c.(1171-1173)agG>agA	p.R391R	TOR3A_ENST00000352445.6_Intron	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	391					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTTCCCAGAGGATTAACTACT	0.488000													46	151					0	0	0.000781405	0	0
OR52M1	119772	broad.mit.edu	37	11	4567089	4567089	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:4567089G>A	ENST00000360213.1	+	1	669	c.669G>A	c.(667-669)atG>atA	p.M223I		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	223					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)		CCTATGTGATGATTTTCAGGG	0.512000													44	156					0	0	0.000781405	0	0
ZNF683	257101	broad.mit.edu	37	1	26694985	26694985	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:26694985G>A	ENST00000436292.1	-	2	198	c.78C>T	c.(76-78)tcC>tcT	p.S26S	ZNF683_ENST00000374204.1_Silent_p.S26S|ZNF683_ENST00000403843.1_Silent_p.S26S|ZNF683_ENST00000349618.3_Silent_p.S26S			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CCAGGCTGGGGGACAGGGAGC	0.537000													33	85					0	0	0.00283554	0	0
ZNF652	22834	broad.mit.edu	37	17	47390188	47390188	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:47390188G>A	ENST00000362063.2	-	3	1238	c.920C>T	c.(919-921)tCg>tTg	p.S307L	ZNF652_ENST00000430262.2_Missense_Mutation_p.S307L	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TTTCTTGAACGATTTGTTACA	0.393000													27	90					0	0	0.00127121	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204433138	204433138	+	Splice_Site	SNP	A	A	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:204433138A>C	ENST00000367187.3	-	6	1867		c.e6+1		PIK3C2B_ENST00000424712.2_Splice_Site	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta						cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CCATTCACTCACTTCTGCAGG	0.582000													22	79					0	0	0.00047179	0	0
ADAM28	10863	broad.mit.edu	37	8	24192998	24192998	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:24192998G>A	ENST00000265769.4	+	14	1521	c.1411G>A	c.(1411-1413)Gag>Aag	p.E471K	ADAM28_ENST00000397649.3_Missense_Mutation_p.E218K|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.E238K|ADAM28_ENST00000437154.2_Missense_Mutation_p.E471K	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	471	Disintegrin.				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)		AGCAAAAGATGAGTGCGACCT	0.438000													10	36					0	0	0.000978159	0	0
IL1F10	84639	broad.mit.edu	37	2	113832373	113832373	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:113832373G>A	ENST00000393197.2	+	3	613	c.192G>A	c.(190-192)ggG>ggA	p.G64G	IL1F10_ENST00000341010.2_Silent_p.G64G|IL1F10_ENST00000337569.3_Silent_p.G64G	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	64						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						TCCAGGGAGGGAGCCGCTGCC	0.587000													19	47					0	0	0.000958276	0	0
DNAH3	55567	broad.mit.edu	37	16	20976344	20976344	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:20976344C>T	ENST00000261383.3	-	53	8861	c.8862G>A	c.(8860-8862)gaG>gaA	p.E2954E	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2954	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E2954E(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAATGTTTTCCTCCAAGTCCT	0.512000													41	150					0	0	0.00148497	0	0
USP26	83844	broad.mit.edu	37	X	132160255	132160255	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:132160255G>A	ENST00000511190.1	-	6	2463	c.1994C>T	c.(1993-1995)tCa>tTa	p.S665L	USP26_ENST00000370832.1_Missense_Mutation_p.S665L|USP26_ENST00000406273.1_Missense_Mutation_p.S665L	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	665					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTGACAAAGTGAGGTATCTTC	0.428000													32	31					0	0	0.00283554	0	0
OR5M1	390168	broad.mit.edu	37	11	56380724	56380724	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:56380724G>A	ENST00000526538.1	-	1	254	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F85F(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GTTCTGAGAGGAAATTGTGCA	0.448000													26	110					0	0	0.000586117	0	0
CBFA2T3	863	broad.mit.edu	37	16	88958762	88958762	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:88958762C>T	ENST00000268679.4	-	4	907	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	CBFA2T3_ENST00000436887.2_Missense_Mutation_p.A146T|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.A85T|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.A85T|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.A95T	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	171	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH.				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		AGCTGCCGGGCCCCGCAGGCT	0.647000			T	RUNX1	AML								11	28					0	0	0.000978159	0	0
ZNF439	90594	broad.mit.edu	37	19	11978400	11978400	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:11978400C>T	ENST00000304030.2	+	3	716	c.516C>T	c.(514-516)tcC>tcT	p.S172S	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Silent_p.S36S	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						ATCACCCCTCCTTGAGAACAC	0.413000													29	88					0	0	0.000878237	0	0
PLB1	151056	broad.mit.edu	37	2	28748147	28748147	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:28748147G>A	ENST00000422425.2	+	5	301	c.257G>A	c.(256-258)gGg>gAg	p.G86E	PLB1_ENST00000327757.5_Missense_Mutation_p.G86E	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	86	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCAGACCCAGGGACGGGCGAT	0.507000													11	25					0	0	0.00185496	0	0
PADI3	51702	broad.mit.edu	37	1	17609436	17609436	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:17609436C>T	ENST00000375460.3	+	16	1897	c.1857C>T	c.(1855-1857)tcC>tcT	p.S619S		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	619					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGGTGCGGTCCCTGCTGGAGC	0.597000													9	29					0	0	0.000274275	0	0
F13A1	2162	broad.mit.edu	37	6	6222389	6222389	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:6222389C>T	ENST00000264870.3	-	8	1254	c.989G>A	c.(988-990)gGa>gAa	p.G330E		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	330					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G330V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TGCTGGTATTCCAAGGCATCG	0.403000													11	25					0	0	0.000673444	0	0
CDK5R1	8851	broad.mit.edu	37	17	30815545	30815545	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:30815545C>T	ENST00000313401.3	+	2	1596	c.907C>T	c.(907-909)Cta>Tta	p.L303L		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	303					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			GCGGCTCCTCCTAGGCCTGGA	0.473000													22	72					0	0	0.00188189	0	0
TRMT11	60487	broad.mit.edu	37	6	126359912	126359912	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:126359912C>T	ENST00000334379.5	+	13	1443	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	TRMT11_ENST00000368332.3_Missense_Mutation_p.S436F	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	441					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		GGTCATAATTCCTTCCGTGAG	0.333000													32	104					0	0	0.00209593	0	0
VWA3A	146177	broad.mit.edu	37	16	22144410	22144410	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:22144410G>C	ENST00000389398.5	+	20	2158	c.2062G>C	c.(2062-2064)Gac>Cac	p.D688H	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	688	VWFA 1.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CTGGTTTGGAGACACAGGTAC	0.562000													4	17					0	0	0.00024832	0	0
SIK1	150094	broad.mit.edu	37	21	44839834	44839834	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr21:44839834G>A	ENST00000270162.6	-	9	1156	c.1024C>T	c.(1024-1026)Ctt>Ttt	p.L342F		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	342	UBA.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						AGCCGCTCAAGGAGGAGGTAA	0.612000													4	16					0	0	0.00024832	0	0
TRPC7	57113	broad.mit.edu	37	5	135610477	135610477	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:135610477C>T	ENST00000513104.1	-	4	1294	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	TRPC7_ENST00000355180.3_Missense_Mutation_p.E277K|TRPC7_ENST00000426057.2_Intron	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	338					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGAGATTTTCATACCACATG	0.418000													6	5					0	0	0.00116845	0	0
NCAN	1463	broad.mit.edu	37	19	19359601	19359601	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:19359601T>G	ENST00000252575.5	+	14	3773	c.3730T>G	c.(3730-3732)Tgc>Ggc	p.C1244G	NCAN_ENST00000538881.1_Missense_Mutation_p.C695G	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1244	Sushi.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AAGGTACCAGTGCAATGAAGG	0.562000													16	53					0	0	0.000308642	0	0
DSC1	1823	broad.mit.edu	37	18	28725728	28725728	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:28725728C>T	ENST00000257197.3	-	7	1046	c.785G>A	c.(784-786)gGa>gAa	p.G262E	DSC1_ENST00000257198.5_Missense_Mutation_p.G262E|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	262	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GGTCACTTTTCCCACTGAAGT	0.353000													27	65					0	0	0.00209593	0	0
GNAQ	2776	broad.mit.edu	37	9	80336301	80336301	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr9:80336301C>G	ENST00000286548.4	-	7	1240	c.1018G>C	c.(1018-1020)Gtc>Ctc	p.V340L	GNAQ_ENST00000397476.3_Missense_Mutation_p.V138L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	340					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GCAGCAAAGACAAAGCGGATA	0.507000			Mis		uveal melanoma								12	29					0	0	0.00136819	0	0
DNAH5	1767	broad.mit.edu	37	5	13885212	13885212	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:13885212C>T	ENST00000265104.4	-	19	2973	c.2869G>A	c.(2869-2871)Gag>Aag	p.E957K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	957	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E957*(1)		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)					GAGAGTAACTCGCGGGCTTCT	0.448000									Kartagener syndrome				29	69					0	0	0.00106085	0	0
MYH4	4622	broad.mit.edu	37	17	10346726	10346726	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:10346726C>T	ENST00000255381.2	-	40	5896	c.5786G>A	c.(5785-5787)cGg>cAg	p.R1929Q	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1929					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						GTGAACCTCCCGACTCTTCAC	0.463000													25	87					0	0	0.00127121	0	0
NEK10	152110	broad.mit.edu	37	3	27346402	27346402	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:27346402C>T	ENST00000429845.2	-	13	1226	c.864G>A	c.(862-864)aaG>aaA	p.K288K	NEK10_ENST00000341435.5_Silent_p.K288K			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	288							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCTCATAGAGCTTCACCTGCT	0.547000													7	29					0	0	0.000157383	0	0
DAGLA	747	broad.mit.edu	37	11	61503251	61503251	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:61503251C>T	ENST00000257215.5	+	12	1369	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	418					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)		GAGCGCCTCCCCGTGGAGGGG	0.662000													9	13					0	0	0.000442599	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43654046	43654046	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:43654046C>T	ENST00000396976.2	-	5	1918	c.1784G>A	c.(1783-1785)aGg>aAg	p.R595K	ZSCAN29_ENST00000396972.1_Missense_Mutation_p.R206K|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.G524R|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.R205K	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	595					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGGAATTTTCCTTTCAGATCT	0.418000													51	122					0	0	0.000781405	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69095234	69095234	+	Splice_Site	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:69095234C>T	ENST00000332644.5	-	8	848	c.686_splice	c.e8-1	p.K229_splice		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	229	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AATTATTTTTCCTAGAGGACA	0.323000													14	42					0	0	0.000308642	0	0
GUSB	2990	broad.mit.edu	37	7	65425997	65425997	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:65425997G>A	ENST00000304895.4	-	12	1973	c.1843C>T	c.(1843-1845)Cca>Tca	p.P615S	GUSB_ENST00000421103.1_Missense_Mutation_p.P469S|GUSB_ENST00000345660.6_Missense_Mutation_p.P564S	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	615					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						GCACTTTTTGGTTGTCTCTGC	0.438000													64	238					0	0	0.000781405	0	0
BRINP2	57795	broad.mit.edu	37	1	177249834	177249834	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:177249834G>A	ENST00000361539.4	+	8	1834	c.1522G>A	c.(1522-1524)Gac>Aac	p.D508N	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		508						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GCTGGAGACAGACTTGCAGGA	0.597000													16	41					0	0	0.000422831	0	0
OGDHL	55753	broad.mit.edu	37	10	50964955	50964955	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:50964955G>A	ENST00000374103.4	-	3	327	c.242C>T	c.(241-243)gCc>gTc	p.A81V	OGDHL_ENST00000419399.1_Intron|OGDHL_ENST00000432695.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	81					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCCAGAAAAGGCTTCCTCGCT	0.597000													18	60					0	0	0.000958276	0	0
ITGA5	3678	broad.mit.edu	37	12	54798248	54798248	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:54798248C>A	ENST00000293379.4	-	14	1690	c.1429G>T	c.(1429-1431)Ggg>Tgg	p.G477W	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	477					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCAAAGGACCCCACAATCAGA	0.498000											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	373					0.000442599	0.00217257	0.000442599	1	0
DNAH8	1769	broad.mit.edu	37	6	38709588	38709588	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:38709588C>T	ENST00000359357.3	+	6	821	c.567C>T	c.(565-567)atC>atT	p.I189I	DNAH8_ENST00000449981.2_Silent_p.I406I|DNAH8_ENST00000441566.1_Silent_p.I189I					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCAACTATATCATTGAGCAGA	0.388000													15	44					0	0	0.000422831	0	0
MLLT10	8028	broad.mit.edu	37	10	22029049	22029049	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:22029049C>T	ENST00000307729.7	+	22	3224	c.3046C>T	c.(3046-3048)Cca>Tca	p.P1016S	MLLT10_ENST00000446906.2_Intron|MLLT10_ENST00000377072.3_Intron|MLLT10_ENST00000377059.3_Intron			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	0					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GATCCCTGGACCAACACAAAT	0.478000			T	"""MLL, PICALM, CDK6"""	AL								18	40					0	0	0.00074312	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74834725	74834725	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:74834725C>T	ENST00000370895.1	+	16	1679	c.1644C>T	c.(1642-1644)ctC>ctT	p.L548L	TNNI3K_ENST00000370891.2_Silent_p.L548L|FPGT-TNNI3K_ENST00000557284.1_Silent_p.L548L|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000326637.3_Silent_p.L447L|FPGT-TNNI3K_ENST00000370899.3_Silent_p.L548L			Q59H18	TNI3K_HUMAN		447	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										ATATTCTCCTCCTAAGAGCTG	0.323000													9	31					0	0	0.00136819	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757098	56757098	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:56757098C>T	ENST00000326855.2	+	1	752	c.710C>T	c.(709-711)tCc>tTc	p.S237F		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						AGGAAAAAATCCTTCTCAACA	0.418000													28	84					0	0	0.00106085	0	0
NBEAL1	65065	broad.mit.edu	37	2	204045118	204045118	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:204045118G>A	ENST00000449802.1	+	42	6724	c.6391G>A	c.(6391-6393)Gat>Aat	p.D2131N		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2131	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGACTGTGCAGATCGACAGTT	0.348000													120	353					0	0	0.000781405	0	0
C19orf66	55337	broad.mit.edu	37	19	10202783	10202783	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:10202783G>A	ENST00000397881.3	+	8	1005	c.528G>A	c.(526-528)aaG>aaA	p.K176K	C19orf66_ENST00000253110.11_Silent_p.K227K|C19orf66_ENST00000591813.1_Silent_p.K191K			Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	227										large_intestine(3)|skin(1)	4						CTCACCCCAAGAGCCGGAAGC	0.642000													13	65					0	0	0.000566183	0	0
DNMT3B	1789	broad.mit.edu	37	20	31389145	31389145	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr20:31389145G>A	ENST00000328111.2	+	19	2379	c.2058G>A	c.(2056-2058)gaG>gaA	p.E686E	DNMT3B_ENST00000344505.4_Silent_p.E666E|DNMT3B_ENST00000348286.2_Silent_p.E666E|DNMT3B_ENST00000456297.2_Silent_p.E590E|DNMT3B_ENST00000443239.3_Silent_p.E624E|DNMT3B_ENST00000353855.2_Silent_p.E666E|DNMT3B_ENST00000201963.3_Silent_p.E678E	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	686					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCCCAAGGAGGGTGATGACC	0.517000													22	55					0	0	0.00188189	0	0
MS4A13	503497	broad.mit.edu	37	11	60292761	60292761	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:60292761C>T	ENST00000378186.2	+	5	591	c.268C>T	c.(268-270)Cat>Tat	p.H90Y	MS4A13_ENST00000527948.1_Intron|MS4A13_ENST00000378185.2_Intron|MS4A13_ENST00000437058.2_Intron	NM_001012417.2	NP_001012417.2	Q5J8X5	M4A13_HUMAN	membrane-spanning 4-domains, subfamily A, member 13	90						integral to membrane				endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						AGAGTTGTCTCATTTTAATTC	0.279000													6	20					0	0	0.00198382	0	0
SERPINF2	5345	broad.mit.edu	37	17	1650748	1650748	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:1650748C>T	ENST00000324015.3	+	7	734	c.657C>T	c.(655-657)ttC>ttT	p.F219F	SERPINF2_ENST00000450523.2_Silent_p.F155F|SERPINF2_ENST00000382061.4_Silent_p.F219F	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	219					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	TTCAGGAATTCCTCTCTGGGC	0.587000													9	17					0	0	0.000274275	0	0
GALNT15	117248	broad.mit.edu	37	3	16217062	16217062	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:16217062G>A	ENST00000339732.5	+	1	907	c.404G>A	c.(403-405)tGg>tAg	p.W135*	GALNT15_ENST00000437509.1_Nonsense_Mutation_p.W135*|GALNT15_ENST00000470031.1_3'UTR	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15									p.A137fs*2(1)									AAGAGGGACTGGGGGGCTGAT	0.642000													10	27					0	0	0.000673444	0	0
OR56B4	196335	broad.mit.edu	37	11	6129055	6129055	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:6129055C>T	ENST00000316529.3	+	1	142	c.47C>T	c.(46-48)tCc>tTc	p.S16F		NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCAGATTTCCCAGTTCATC	0.502000													13	54					0	0	0.00136819	0	0
ZNF831	128611	broad.mit.edu	37	20	57768629	57768629	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr20:57768629C>T	ENST00000371030.2	+	1	2555	c.2555C>T	c.(2554-2556)tCt>tTt	p.S852F		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	852						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAGCCTGCCTCTTTGTCATCC	0.642000													19	53					0	0	0.00152264	0	0
POU6F1	5463	broad.mit.edu	37	12	51584204	51584204	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:51584204C>T	ENST00000389243.4	-	11	1671	c.732G>A	c.(730-732)caG>caA	p.Q244Q	POU6F1_ENST00000333640.10_Silent_p.Q244Q|POU6F1_ENST00000550824.1_Silent_p.Q244Q			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	244					brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						CCTCTATGGCCTGGGGGGTGA	0.557000													31	123					0	0	0.00209593	0	0
NAV2	89797	broad.mit.edu	37	11	20122559	20122559	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:20122559C>T	ENST00000396085.1	+	33	6628	c.6267C>T	c.(6265-6267)tcC>tcT	p.S2089S	NAV2_ENST00000360655.4_Silent_p.S2022S|NAV2_ENST00000540292.1_Silent_p.S2076S|NAV2_ENST00000311043.8_Silent_p.S1150S|NAV2_ENST00000396087.3_Silent_p.S2145S|NAV2_ENST00000349880.4_Silent_p.S2086S|NAV2_ENST00000527559.2_Silent_p.S2074S|NAV2_ENST00000533917.1_Silent_p.S1150S	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2145						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCTACGTCTCCCTCCTGATAG	0.557000													38	94					0	0	0.00195071	0	0
TLR8	51311	broad.mit.edu	37	X	12939014	12939014	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:12939014C>T	ENST00000218032.6	+	2	1942	c.1855C>T	c.(1855-1857)Cgc>Tgc	p.R619C	TLR8_ENST00000311912.5_Missense_Mutation_p.R637C	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	619					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAGTGGCAATCGCCTTGACAT	0.363000													31	22					0	0	0.00283554	0	0
PLXNA4	91584	broad.mit.edu	37	7	131925877	131925877	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:131925877C>T	ENST00000359827.3	-	5	2514	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E518K			Q9HCM2	PLXA4_HUMAN	plexin A4	518	PSI 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCAAGGCACTCGCCGCAGCTC	0.597000													15	49					0	0	0.000422831	0	0
ZNF687	57592	broad.mit.edu	37	1	151261703	151261703	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:151261703C>T	ENST00000368879.2	+	4	2525	c.2427C>T	c.(2425-2427)gcC>gcT	p.A809A		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	809					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTGCCCATGCCCACCTCTACT	0.647000													10	37					0	0	0.000442599	0	0
RGPD4	285190	broad.mit.edu	37	2	108488404	108488404	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:108488404C>T	ENST00000408999.3	+	20	4021	c.3944C>T	c.(3943-3945)tCa>tTa	p.S1315L	RGPD4_ENST00000354986.4_Missense_Mutation_p.S1315L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1315					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGTGGGACTTCAGTTGGCACT	0.403000													50	179					0	0	0.000781405	0	0
TLR8	51311	broad.mit.edu	37	X	12937885	12937885	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:12937885C>A	ENST00000218032.6	+	2	813	c.726C>A	c.(724-726)ttC>ttA	p.F242L	TLR8_ENST00000311912.5_Missense_Mutation_p.F260L	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	242					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AAGAAGATTTCAAGGGATTGA	0.433000													21	22					1.87028e-06	9.22492e-06	0.00188189	1	0
SERPINB12	89777	broad.mit.edu	37	18	61234136	61234136	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:61234136G>A	ENST00000382768.1	+	7	1170	c.1170G>A	c.(1168-1170)agG>agA	p.R390R	SERPINB12_ENST00000269491.1_Silent_p.R370R			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	370					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.R370R(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TCTCGGAAAGGTCACTACGAT	0.453000													20	78					0	0	0.000958276	0	0
RIT2	6014	broad.mit.edu	37	18	40323474	40323474	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:40323474C>T	ENST00000326695.5	-	5	809	c.638G>A	c.(637-639)aGa>aAa	p.R213K	RIT2_ENST00000589109.1_3'UTR|RIT2_ENST00000590910.1_3'UTR	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	213					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CATATTTTCTCTCTTCTTCTT	0.373000													34	73					0	0	0.00058488	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837191	12837191	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:12837191G>A	ENST00000357726.4	+	3	928	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	301										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGTAATGACCGAATGCCTGCT	0.547000													41	146					0	0	0.000680045	0	0
TTN	7273	broad.mit.edu	37	2	179656915	179656915	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:179656915C>T	ENST00000589042.1	-	10	1770	c.1546G>A	c.(1546-1548)Gaa>Aaa	p.E516K	TTN_ENST00000359218.5_Missense_Mutation_p.E516K|TTN_ENST00000591111.1_Missense_Mutation_p.E516K|TTN_ENST00000342992.6_Missense_Mutation_p.E516K|TTN_ENST00000360870.5_Missense_Mutation_p.E516K|TTN_ENST00000342175.6_Missense_Mutation_p.E516K|TTN_ENST00000460472.2_Missense_Mutation_p.E516K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	516							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)			TTTTCAGTTTCTTTTCTTATC	0.279000													11	39					0	0	0.000978159	0	0
SDK2	54549	broad.mit.edu	37	17	71395316	71395316	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:71395316C>T	ENST00000392650.3	-	22	3084	c.3084G>A	c.(3082-3084)gtG>gtA	p.V1028V	SDK2_ENST00000388726.3_Silent_p.V1028V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1028	Fibronectin type-III 5.				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						CCTGGGCTTCCACCAGCCAGC	0.627000													15	40					0	0	0.00074312	0	0
PRSS36	146547	broad.mit.edu	37	16	31157121	31157121	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:31157121C>T	ENST00000268281.4	-	6	767	c.709G>A	c.(709-711)Gac>Aac	p.D237N	PRSS36_ENST00000418068.2_Missense_Mutation_p.D237N|PRSS36_ENST00000569305.1_Missense_Mutation_p.D237N	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	237	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						TGGCAGGTGTCCCTGCGGCCC	0.597000													34	96					0	0	0.000953801	0	0
DHCR7	1717	broad.mit.edu	37	11	71148959	71148959	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:71148959C>T	ENST00000355527.3	-	8	1138	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	DHCR7_ENST00000407721.2_Missense_Mutation_p.E288K	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	288					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	TACCAGGTTTCGTTCCAGAAG	0.587000									Smith-Lemli-Opitz syndrome				30	64					0	0	0.00127121	0	0
TENM1	10178	broad.mit.edu	37	X	123805602	123805602	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:123805602C>T	ENST00000422452.2	-	6	1162	c.1099G>A	c.(1099-1101)Ggg>Agg	p.G367R	TENM1_ENST00000371130.3_Missense_Mutation_p.G367R	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GACTCGGTCCCCCTGTTCCCT	0.438000													61	52					0	0	0.000781405	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170463	90170463	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:90170463G>A	ENST00000333209.3	-	2	1317	c.799C>T	c.(799-801)Cca>Tca	p.P267S		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	267										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		AGGGGGGTTGGTTGAGGTGTC	0.557000													30	98					0	0	0.001512	0	0
SLC12A5	57468	broad.mit.edu	37	20	44675062	44675062	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr20:44675062C>T	ENST00000454036.1	+	14	1919	c.1843C>T	c.(1843-1845)Cga>Tga	p.R615*	SLC12A5_ENST00000539566.1_3'UTR|SLC12A5_ENST00000243964.3_Nonsense_Mutation_p.R592*	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	615					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCACGCTTTCGATATTACCA	0.552000													13	49					0	0	0.000422831	0	0
ALPPL2	251	broad.mit.edu	37	2	233272069	233272069	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:233272069C>T	ENST00000295453.3	+	3	310	c.258C>T	c.(256-258)acC>acT	p.T86T		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	86					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GGCCTGAGACCTTCCTGGCCA	0.567000													9	32					0	0	0.000442599	0	0
PADI1	29943	broad.mit.edu	37	1	17531743	17531743	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:17531743C>T	ENST00000375471.4	+	1	123	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	11					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GCAGCTGTCCCTGAAGATGCC	0.612000													10	25					0	0	0.000978159	0	0
REG3G	130120	broad.mit.edu	37	2	79254185	79254185	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:79254185G>A	ENST00000272324.5	+	4	405	c.221G>A	c.(220-222)gGa>gAa	p.G74E	REG3G_ENST00000409471.1_Intron|REG3G_ENST00000393897.2_Missense_Mutation_p.G74E	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	74	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGGCCCTCTGGAAAACTGGTG	0.557000													28	108					0	0	0.00283554	0	0
HCN2	610	broad.mit.edu	37	19	590557	590557	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:590557C>T	ENST00000251287.2	+	1	665	c.612C>T	c.(610-612)atC>atT	p.I204I		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	204	Involved in subunit assembly (By similarity).				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGATCATCCACCCGTACA	0.731000													10	14					0	0	0.000442599	0	0
WDR17	116966	broad.mit.edu	37	4	177100723	177100723	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:177100723C>T	ENST00000393643.2	+	30	4142	c.3890C>T	c.(3889-3891)cCa>cTa	p.P1297L	WDR17_ENST00000280190.4_Missense_Mutation_p.P1321L|WDR17_ENST00000507824.2_Missense_Mutation_p.P1296L|WDR17_ENST00000508596.1_Missense_Mutation_p.P1282L	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1321										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CGACTCAATCCATTCTGATAG	0.383000													17	70					0	0	0.00074312	0	0
PSG9	5678	broad.mit.edu	37	19	43763161	43763161	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:43763161C>T	ENST00000418820.2	-	3	655	c.557G>A	c.(556-558)aGc>aAc	p.S186N	PSG9_ENST00000593948.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000270077.3_Missense_Mutation_p.S279N|PSG9_ENST00000443718.3_Missense_Mutation_p.S186N|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000596730.1_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	186	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GACGGGGAGGCTCTGACCGTT	0.463000													74	222					0	0	0.000781405	0	0
JAG1	182	broad.mit.edu	37	20	10653614	10653614	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr20:10653614G>A	ENST00000254958.5	-	2	637	c.122C>T	c.(121-123)tCc>tTc	p.S41F	RP11-103J8.1_ENST00000605292.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	41					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GTTCTGCATGGACAGGATCTC	0.622000									Alagille Syndrome				7	48					0	0	0.00198382	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42796660	42796660	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:42796660C>T	ENST00000314073.5	+	6	765	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.P197S					GLTSCR1-like																		GATCAGTGTTCCCAGCCAGCA	0.438000													42	109					0	0	0.000781405	0	0
FBN2	2201	broad.mit.edu	37	5	127866296	127866296	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:127866296G>A	ENST00000508053.1	-	9	1402	c.428C>T	c.(427-429)tCa>tTa	p.S143L	FBN2_ENST00000262464.4_Missense_Mutation_p.S143L|FBN2_ENST00000508989.1_Intron			P35556	FBN2_HUMAN	fibrillin 2	143					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACTTGATTTTGATCCACAGGT	0.393000													17	28					0	0	0.000566183	0	0
LPA	4018	broad.mit.edu	37	6	161020674	161020674	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:161020674G>A	ENST00000447678.1	-	21	3265	c.3145C>T	c.(3145-3147)Ccc>Tcc	p.P1049S	LPA_ENST00000316300.5_Missense_Mutation_p.P1049S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3557	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGTACCCCGGGGGTTTCCTCA	0.423000													28	94					0	0	0.000720815	0	0
FCHO1	23149	broad.mit.edu	37	19	17877606	17877606	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:17877606A>C	ENST00000594202.1	+	7	602	c.323A>C	c.(322-324)aAg>aCg	p.K108T	FCHO1_ENST00000597512.1_Missense_Mutation_p.K115T|FCHO1_ENST00000596536.1_Missense_Mutation_p.K108T|FCHO1_ENST00000389133.4_Missense_Mutation_p.K108T|FCHO1_ENST00000252771.7_Missense_Mutation_p.K108T|FCHO1_ENST00000596951.1_Missense_Mutation_p.K108T|FCHO1_ENST00000539407.1_Missense_Mutation_p.K108T|FCHO1_ENST00000595033.1_Missense_Mutation_p.K58T|FCHO1_ENST00000600676.1_Missense_Mutation_p.K108T	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	108										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GAACAGCTCAAGACCCACAAG	0.607000													10	25					0	0	0.000978159	0	0
DNAH2	146754	broad.mit.edu	37	17	7701129	7701129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:7701129C>T	ENST00000572933.1	+	53	9672	c.8212C>T	c.(8212-8214)Cga>Tga	p.R2738*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.R2738*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2738	AAA 4 (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)				AGTGCTCTTCCGAGAGGCTAT	0.527000													29	60					0	0	0.00178596	0	0
WASF2	10163	broad.mit.edu	37	1	27736343	27736343	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:27736343G>A	ENST00000430629.2	-	8	1397	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	394	Poly-Pro.				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		gaggaggagggggaggaggag	0.637000													15	38					0	0	0.000422831	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808853	18808853	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:18808853G>A	ENST00000400664.1	+	1	1430	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	460						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGATGAGCGAAAACTACCT	0.642000													27	80					0	0	0.00106085	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7676798	7676798	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:7676798C>T	ENST00000446248.2	+	13	1601	c.1500C>T	c.(1498-1500)ctC>ctT	p.L500L	CAMSAP3_ENST00000160298.4_Silent_p.L473L	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	473	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						AGCCCCGGCTCCTCCCAGATG	0.716000													12	15					0	0	0.00185496	0	0
CACNG5	27091	broad.mit.edu	37	17	64876763	64876763	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:64876763C>T	ENST00000533854.1	+	4	610	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	CACNG5_ENST00000169565.3_Missense_Mutation_p.P125S|CACNG5_ENST00000307139.3_Missense_Mutation_p.P125S			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	125					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			ACACATCCGTCCCCACCGGAC	0.453000													46	143					0	0	0.000781405	0	0
CCDC18	343099	broad.mit.edu	37	1	93724338	93724338	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:93724338G>A	ENST00000343253.7	+	26	4079	c.3577G>A	c.(3577-3579)Ggg>Agg	p.G1193R	CCDC18_ENST00000401026.3_Missense_Mutation_p.G1194R|CCDC18_ENST00000338949.4_3'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.G1312R|CCDC18_ENST00000334652.5_3'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	1193										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TGAAGAACTGGGGGCTTCTAA	0.333000													16	49					0	0	0.00074312	0	0
MYOF	26509	broad.mit.edu	37	10	95083084	95083084	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:95083084G>A	ENST00000371501.4	-	47	5425	c.5303C>T	c.(5302-5304)cCc>cTc	p.P1768L	MYOF_ENST00000359263.4_Missense_Mutation_p.P1768L|MYOF_ENST00000371502.4_Intron|MYOF_ENST00000358334.5_Missense_Mutation_p.P1755L			Q9NZM1	MYOF_HUMAN	myoferlin	1768					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	p.P1768L(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAAACTCTTGGGGAAAACATC	0.458000													24	82					0	0	0.00278032	0	0
PTPRJ	5795	broad.mit.edu	37	11	48161159	48161159	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:48161159C>T	ENST00000418331.2	+	11	2626	c.2274C>T	c.(2272-2274)gcC>gcT	p.A758A		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	758	Fibronectin type-III 8.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCAGTGGAGCCTGGAACAATG	0.537000													19	48					0	0	0.00229938	0	0
CDC20B	166979	broad.mit.edu	37	5	54420693	54420693	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:54420693C>T	ENST00000296733.1	-	9	1327	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	CDC20B_ENST00000381375.2_Missense_Mutation_p.D385N|CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Missense_Mutation_p.D385N	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	385										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GCACCTGGATCGTGGGGCCAT	0.537000													23	50					0	0	0.00188189	0	0
INTS2	57508	broad.mit.edu	37	17	59999159	59999159	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:59999159G>A	ENST00000444766.3	-	4	561	c.486C>T	c.(484-486)ttC>ttT	p.F162F	INTS2_ENST00000251334.6_Silent_p.F154F	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	162					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CAGAAGACTTGAAAAAAAATT	0.299000													19	50					0	0	0.00229938	0	0
CAD	790	broad.mit.edu	37	2	27460710	27460710	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:27460710T>A	ENST00000264705.4	+	29	4850	c.4688T>A	c.(4687-4689)tTc>tAc	p.F1563Y	CAD_ENST00000403525.1_Missense_Mutation_p.F1500Y	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1563	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AATGAGACCTTCTCTGAGCTG	0.612000													15	26					0	0	0.000422831	0	0
TRBV11-2	28581	broad.mit.edu	37	7	142197691	142197691	+	RNA	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:142197691C>T	ENST00000471935.1	-	0	286																											AACTGTGAATCATCCACTACA	0.493000													23	84					0	0	0.00047179	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578710	44578710	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:44578710G>A	ENST00000289547.4	-	2	1341	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L	NPC1L1_ENST00000546276.1_Missense_Mutation_p.P429L|NPC1L1_ENST00000381160.3_Missense_Mutation_p.P429L|NPC1L1_ENST00000423141.1_Missense_Mutation_p.P429L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	429					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GAAGTTCTTGGGCCCCAGCAG	0.597000													13	56					0	0	0.00185496	0	0
TECPR2	9895	broad.mit.edu	37	14	102910033	102910033	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:102910033C>T	ENST00000359520.7	+	12	3028	c.2802C>T	c.(2800-2802)ccC>ccT	p.P934P	TECPR2_ENST00000558678.1_Silent_p.P934P	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	934							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TGGACTGTCCCTACCCGCTGT	0.612000													11	19					0	0	0.000978159	0	0
CYP4F3	4051	broad.mit.edu	37	19	15769601	15769601	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:15769601C>T	ENST00000221307.7	+	12	1427	c.1379C>T	c.(1378-1380)cCc>cTc	p.P460L	CYP4F3_ENST00000591058.1_Missense_Mutation_p.P460L|CYP4F3_ENST00000585846.1_Missense_Mutation_p.P460L|CYP4F3_ENST00000586182.1_Missense_Mutation_p.P460L	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	460					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GCTTTTATTCCCTTCTCAGCA	0.582000													35	115					0	0	0.000953801	0	0
OSM	5008	broad.mit.edu	37	22	30660099	30660099	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr22:30660099G>A	ENST00000215781.2	-	3	572	c.532C>T	c.(532-534)Ccc>Tcc	p.P178S	OSM_ENST00000403389.1_Missense_Mutation_p.P157S|OSM_ENST00000403463.1_3'UTR	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	178					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			GCAGGGGTGGGGGTGGGCGGC	0.642000													4	30					0	0	0.00024832	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857436	9857436	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:9857436C>T	ENST00000396573.2	-	14	4274	c.3965G>A	c.(3964-3966)gGa>gAa	p.G1322E	GRIN2A_ENST00000330684.3_Missense_Mutation_p.G1322E|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G1322E|GRIN2A_ENST00000562109.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1322					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTAAAAATTTCCCTCCAGAAG	0.527000													25	114					0	0	0.000720815	0	0
PER2	8864	broad.mit.edu	37	2	239161888	239161888	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:239161888G>A	ENST00000254657.3	-	19	3055	c.2776C>T	c.(2776-2778)Ccc>Tcc	p.P926S	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	926	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGCTGGCTGGGGAAGAAGGCC	0.637000													25	68					0	0	0.00278032	0	0
PPP3R2	5535	broad.mit.edu	37	9	104357047	104357047	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr9:104357047G>A	ENST00000374806.1	-	1	236	c.166C>T	c.(166-168)Ccg>Tcg	p.P56S	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	53	EF-hand 2.						calcium ion binding	p.P56S(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	CGCACCAACGGGTTGTGGCGC	0.557000													20	49					0	0	0.00152264	0	0
NAALAD2	10003	broad.mit.edu	37	11	89892432	89892432	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:89892432G>A	ENST00000534061.1	+	8	1146	c.916G>A	c.(916-918)Gat>Aat	p.D306N	NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000321955.4_Intron|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	306	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGCTCCACCAGATAAGAGTTG	0.373000													13	49					0	0	0.000308642	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				16	76					0	0	0.000422831	0	0
COL4A4	1286	broad.mit.edu	37	2	227886845	227886845	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:227886845G>A	ENST00000396625.3	-	44	4342	c.4135C>T	c.(4135-4137)Cca>Tca	p.P1379S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1376S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1379	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)		GGAAGGCCTGGGATTCGGGGA	0.582000													26	216					0	0	0.00106085	0	0
DMBT1	1755	broad.mit.edu	37	10	124402817	124402817	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:124402817C>T	ENST00000338354.3	+	53	7251	c.7145C>T	c.(7144-7146)tCg>tTg	p.S2382L	DMBT1_ENST00000359586.6_Missense_Mutation_p.S1102L|DMBT1_ENST00000368955.3_Missense_Mutation_p.S2372L|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1754L|DMBT1_ENST00000368909.3_Missense_Mutation_p.S2382L|DMBT1_ENST00000344338.3_Missense_Mutation_p.S2372L|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1754L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2382					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)				GTGTTGAGGTCGAAGAGGGAT	0.607000													22	70					0	0	0.00047179	0	0
ENTPD4	9583	broad.mit.edu	37	8	23299548	23299548	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:23299548G>A	ENST00000358689.4	-	7	934	c.699C>T	c.(697-699)gtC>gtT	p.V233V	ENTPD4_ENST00000356206.6_Silent_p.V233V|ENTPD4_ENST00000417069.2_Silent_p.V233V	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	233					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		ATCGTCCAAGGACAAAATTAA	0.358000													14	46					0	0	0.000422831	0	0
COL1A1	1277	broad.mit.edu	37	17	48267720	48267720	+	Missense_Mutation	SNP	G	G	A	rs74315133		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:48267720G>A	ENST00000225964.5	-	35	2537	c.2419C>T	c.(2419-2421)Ccc>Tcc	p.P807S		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	807	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGGCCGGGGGGACCAGGCTCA	0.622000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						29	63					0	0	0.00178596	0	0
MYT1L	23040	broad.mit.edu	37	2	1795710	1795710	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:1795710G>A	ENST00000399161.2	-	25	4237	c.3490C>T	c.(3490-3492)Cgt>Tgt	p.R1164C	MYT1L_ENST00000428368.2_Missense_Mutation_p.R1162C|MYT1L_ENST00000407844.1_Missense_Mutation_p.R162C	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1164					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTCTGATAACGATCTTGATTT	0.363000													26	56					0	0	0.000586117	0	0
WASF2	10163	broad.mit.edu	37	1	27736342	27736342	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:27736342G>A	ENST00000430629.2	-	8	1398	c.1183C>T	c.(1183-1185)Cct>Tct	p.P395S	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	395	Poly-Pro.				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		ggaggaggagggggaggagga	0.642000													15	37					0	0	0.000308642	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43482359	43482359	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:43482359G>A	ENST00000532038.1	-	3	714	c.579C>T	c.(577-579)ccC>ccT	p.P193P	ARHGAP27_ENST00000376922.2_Silent_p.P52P|ARHGAP27_ENST00000442348.1_Silent_p.P393P|ARHGAP27_ENST00000455881.1_Silent_p.P52P|ARHGAP27_ENST00000532891.2_Silent_p.P393P|ARHGAP27_ENST00000428638.1_Silent_p.P393P|ARHGAP27_ENST00000528384.1_Silent_p.P52P			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	393					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					ACCAGCCGGGGGGTGTGGTCA	0.622000													17	57					0	0	0.000422831	0	0
BAI1	575	broad.mit.edu	37	8	143565392	143565392	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:143565392G>A	ENST00000517894.1	+	12	3079	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	BAI1_ENST00000323289.5_Missense_Mutation_p.E729K			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	729					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGACAAGTGGGAGGAGGCCCA	0.612000													28	124					0	0	0.00209593	0	0
RGAG1	57529	broad.mit.edu	37	X	109694734	109694734	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:109694734C>T	ENST00000465301.2	+	3	1135	c.889C>T	c.(889-891)Ccg>Tcg	p.P297S	RGAG1_ENST00000540313.1_Missense_Mutation_p.P297S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	297										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AATACCTACCCCGCTCATGTC	0.488000													53	51					0	0	0.000781405	0	0
DAB1	1600	broad.mit.edu	37	1	57489283	57489283	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:57489283G>A	ENST00000371236.2	-	11	1079	c.816C>T	c.(814-816)atC>atT	p.I272I	DAB1_ENST00000371234.4_Silent_p.I272I|DAB1_ENST00000439789.2_Silent_p.I186I|DAB1_ENST00000420954.2_Silent_p.I270I|DAB1_ENST00000414851.2_Silent_p.I254I|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Silent_p.I305I			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	305					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ATGAAGATGGGATAAAGGCAT	0.537000													10	27					0	0	0.000978159	0	0
TULP1	7287	broad.mit.edu	37	6	35477481	35477481	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:35477481C>T	ENST00000229771.6	-	7	727	c.648G>A	c.(646-648)gcG>gcA	p.A216A	TULP1_ENST00000322263.4_Silent_p.A163A	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	216					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCTCTTCCTCGCACTGGCTG	0.602000													21	72					0	0	0.00188189	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317817	30317817	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:30317817G>A	ENST00000375377.1	-	3	1361	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	420										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGTACTGAACGAAGCCGTCAT	0.522000													32	82					0	0	0.00178596	0	0
FAT2	2196	broad.mit.edu	37	5	150946893	150946893	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:150946893T>C	ENST00000261800.5	-	1	1612	c.1600A>G	c.(1600-1602)Aga>Gga	p.R534G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	534	Cadherin 4.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTGATGCTCTTACCCGGAAG	0.453000													21	55					0	0	0.00229938	0	0
NALCN	259232	broad.mit.edu	37	13	101759944	101759944	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr13:101759944C>T	ENST00000251127.6	-	22	2554	c.2473G>A	c.(2473-2475)Gaa>Aaa	p.E825K		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	825						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)					TCTCTGAGTTCCTCTTCTTGC	0.498000													27	69					0	0	0.001512	0	0
NKIRAS2	28511	broad.mit.edu	37	17	40175799	40175799	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:40175799G>C	ENST00000307641.5	+	4	1085	c.464G>C	c.(463-465)cGc>cCc	p.R155P	NKIRAS2_ENST00000393880.1_Missense_Mutation_p.R155P|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.R193P|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.R99P|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.R155P|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.R153P|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.R155P	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	155	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				GCGGACCGGCGCTCCCTCCTG	0.617000													19	55					0	0	0.00074312	0	0
ACOT11	26027	broad.mit.edu	37	1	55063063	55063063	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:55063063G>A	ENST00000371316.3	+	7	821	c.739G>A	c.(739-741)Gag>Aag	p.E247K	ACOT11_ENST00000343744.2_Missense_Mutation_p.E247K|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	247	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GGCCTGGATGGAGAATGTGGC	0.642000													4	21					0	0	0.00024832	0	0
OR5A1	219982	broad.mit.edu	37	11	59210689	59210689	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:59210689C>T	ENST00000302030.2	+	1	73	c.48C>T	c.(46-48)atC>atT	p.I16I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CCATGTTCATCCTCCTGGGAT	0.527000													27	89					0	0	0.00127121	0	0
OSBPL10	114884	broad.mit.edu	37	3	31710258	31710258	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:31710258C>T	ENST00000396556.2	-	10	2094	c.1972G>A	c.(1972-1974)Gaa>Aaa	p.E658K	OSBPL10_ENST00000438237.2_Missense_Mutation_p.E594K	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	658					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CCATTCCATTCCCCATGGGCT	0.423000													15	118					0	0	0.000308642	0	0
PKHD1	5314	broad.mit.edu	37	6	51484319	51484319	+	Splice_Site	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:51484319C>T	ENST00000371117.3	-	67	12061		c.e67-1		RP3-335N17.2_ENST00000589278.1_RNA|RP3-335N17.2_ENST00000454361.1_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)						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)					ATTCTCATATCTGGGGGGAAA	0.423000													23	92					0	0	0.000586117	0	0
DNAH11	8701	broad.mit.edu	37	7	21675610	21675610	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:21675610G>A	ENST00000328843.6	+	26	4668	c.4637G>A	c.(4636-4638)cGa>cAa	p.R1546Q	DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000409508.3_Missense_Mutation_p.R1541Q			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1546	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAGTCCAGCGAACTTGGTCT	0.388000									Kartagener syndrome				9	29					0	0	0.000442599	0	0
KRBA1	84626	broad.mit.edu	37	7	149430494	149430494	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:149430494C>T	ENST00000255992.10	+	18	2847	c.2448C>T	c.(2446-2448)ctC>ctT	p.L816L	KRBA1_ENST00000485033.2_Silent_p.L756L|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Silent_p.L756L	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	817										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGATCGGCTCGCCACAGCGC	0.692000													7	13					0	0	0.00198382	0	0
DLL1	28514	broad.mit.edu	37	6	170594737	170594737	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:170594737G>A	ENST00000366756.3	-	6	1115	c.782C>T	c.(781-783)cCa>cTa	p.P261L		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	261	EGF-like 2.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GAGACAGCCTGGATAGCGGAT	0.592000													18	55					0	0	0.000566183	0	0
MMP26	56547	broad.mit.edu	37	11	5013318	5013318	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:5013318C>T	ENST00000380390.1	+	6	936	c.720C>T	c.(718-720)ctC>ctT	p.L240L	MMP26_ENST00000300762.1_Silent_p.L240L			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	240					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCTTCCAGCTCAGTGCCGATG	0.478000													19	51					0	0	0.00229938	0	0
SERPINF1	5176	broad.mit.edu	37	17	1673326	1673326	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:1673326C>T	ENST00000254722.4	+	3	428	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	89					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GGCCACGGCCCTCTCGGCCCT	0.632000													10	33					0	0	0.000442599	0	0
NPAS2	4862	broad.mit.edu	37	2	101604641	101604641	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:101604641C>T	ENST00000335681.5	+	17	2015	c.1730C>T	c.(1729-1731)cCc>cTc	p.P577L	NPAS2_ENST00000542504.1_Missense_Mutation_p.P642L	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	577					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTGACTCAGCCCCAGCTCGGG	0.597000													26	76					0	0	0.000586117	0	0
TRIM51	84767	broad.mit.edu	37	11	55659052	55659052	+	Missense_Mutation	SNP	C	C	T	rs148245438	byFrequency	TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:55659052C>T	ENST00000449290.2	+	7	1395	c.1303C>T	c.(1303-1305)Ccc>Tcc	p.P435S	TRIM51_ENST00000244891.3_Missense_Mutation_p.P292S	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	435	B30.2/SPRY.					intracellular	zinc ion binding	p.P435T(1)|p.P276T(1)									ATACACCATCCCCAATTGCTC	0.458000													38	116					0	0	0.00148497	0	0
PTPRB	5787	broad.mit.edu	37	12	70986324	70986324	+	Splice_Site	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:70986324G>A	ENST00000334414.6	-	7	1562	c.1516_splice	c.e7-1	p.A506_splice	PTPRB_ENST00000551525.1_Splice_Site_p.A505_splice|PTPRB_ENST00000261266.5_Splice_Site_p.A288_splice|PTPRB_ENST00000550358.1_Splice_Site_p.A506_splice|PTPRB_ENST00000550857.1_Splice_Site_p.A288_splice|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Splice_Site_p.A288_splice|PTPRB_ENST00000538708.1_Splice_Site_p.A288_splice	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	288	Fibronectin type-III 6.				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)			CTTCCATGGGGGCTAATCAGG	0.403000													13	43					0	0	0.00185496	0	0
MUC5AC	4586	broad.mit.edu	37	11	1161987	1161987	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:1161987C>T	ENST00000356191.2	+	19	1569	c.1569C>T	c.(1567-1569)acC>acT	p.T523T						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CCAACGTCACCATCTTCAGAC	0.637000													14	58					0	0	0.000566183	0	0
LPHN1	22859	broad.mit.edu	37	19	14269363	14269363	+	Splice_Site	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:14269363C>T	ENST00000340736.6	-	13	2463	c.2164_splice	c.e13-1	p.G722_splice	CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Splice_Site_p.G717_splice	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	722					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTTGACCACCCCTGGTGAGA	0.617000													5	32					0	0	0.000602214	0	0
EFR3A	23167	broad.mit.edu	37	8	132982757	132982757	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:132982757G>A	ENST00000254624.5	+	10	1251	c.1026G>A	c.(1024-1026)ttG>ttA	p.L342L	EFR3A_ENST00000519656.1_Silent_p.L306L|EFR3A_ENST00000334503.4_Silent_p.L342L	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	342						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			ATACCCTTTTGAAACATCTGC	0.388000													14	40					0	0	0.00185496	0	0
HEATR5A	25938	broad.mit.edu	37	14	31762778	31762778	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:31762778G>A	ENST00000543095.2	-	36	6058	c.5874C>T	c.(5872-5874)tcC>tcT	p.S1958S	HEATR5A_ENST00000439348.1_Silent_p.S1877S|RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439727.1_Silent_p.S1665S|HEATR5A_ENST00000389961.3_Silent_p.S1952S	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1952							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CCAAAAGGAAGGAAATGAGGA	0.378000													20	52					0	0	0.00121646	0	0
TSEN2	80746	broad.mit.edu	37	3	12545273	12545273	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:12545273C>A	ENST00000444864.1	+	5	1208	c.821C>A	c.(820-822)cCa>cAa	p.P274Q	TSEN2_ENST00000402228.3_Missense_Mutation_p.P274Q|TSEN2_ENST00000314571.7_Missense_Mutation_p.P274Q|TSEN2_ENST00000415684.1_Missense_Mutation_p.P274Q|TSEN2_ENST00000383797.5_Missense_Mutation_p.P274Q|TSEN2_ENST00000284995.6_Missense_Mutation_p.P274Q|TSEN2_ENST00000454502.2_Missense_Mutation_p.P215Q	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	274					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GAGGCTGCCCCAAATGAGGAA	0.547000													8	324					0.000274275	0.00134848	0.000274275	1	0
HCAR3	8843	broad.mit.edu	37	12	123200933	123200933	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:123200933G>A	ENST00000528880.2	-	1	506	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F	HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	118						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)	ACCACCGTGAGGAATATGATG	0.557000													22	59					0	0	0.00278032	0	0
OR8K5	219453	broad.mit.edu	37	11	55927605	55927605	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:55927605G>A	ENST00000313447.1	-	1	188	c.189C>T	c.(187-189)atC>atT	p.I63I		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CCAAATGTCTGATAGAAAAGT	0.388000													26	67					0	0	0.00047179	0	0
THUMPD2	80745	broad.mit.edu	37	2	39998751	39998751	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:39998751G>A	ENST00000505747.1	-	2	183	c.156C>T	c.(154-156)ttC>ttT	p.F52F	THUMPD2_ENST00000403537.3_5'UTR|THUMPD2_ENST00000454352.2_Silent_p.F22F|THUMPD2_ENST00000260619.6_Silent_p.F22F	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	52							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				AACAGGTGGTGAAAAAAACCT	0.289000													18	64					0	0	0.000566183	0	0
CSF2RA	1438	broad.mit.edu	37	X	1413224	1413224	+	Missense_Mutation	SNP	G	G	A	rs147844397		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:1413224G>A	ENST00000381524.3	+	8	836	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	CSF2RA_ENST00000361536.3_Missense_Mutation_p.R217Q|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R217Q|CSF2RA_ENST00000501036.2_Missense_Mutation_p.R84Q|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R217Q|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R217Q|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R217Q|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R217Q|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R217Q			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	217						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTTACAGAACGATTCAACCCT	0.582000													63	198					0	0	0.000781405	0	0
AP2A1	160	broad.mit.edu	37	19	50306388	50306388	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:50306388C>T	ENST00000354293.5	+	17	2362	c.2196C>T	c.(2194-2196)gtC>gtT	p.V732V	AP2A1_ENST00000359032.5_Silent_p.V754V	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	754					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		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;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ACAACGGGGTCCTGTTCGAGA	0.632000													11	44					0	0	0.00185496	0	0
PRAME	23532	broad.mit.edu	37	22	22892343	22892343	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr22:22892343G>A	ENST00000543184.1	-	4	1620	c.758C>T	c.(757-759)tCt>tTt	p.S253F	PRAME_ENST00000539862.1_Missense_Mutation_p.S237F|PRAME_ENST00000424204.2_Missense_Mutation_p.S237F|PRAME_ENST00000402697.1_Missense_Mutation_p.S253F|PRAME_ENST00000398741.1_Missense_Mutation_p.S253F|PRAME_ENST00000405655.3_Missense_Mutation_p.S253F|PRAME_ENST00000398743.2_Missense_Mutation_p.S253F	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	253					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CAGGTAAGGAGAAAATTTCGC	0.473000													23	72					0	0	0.00047179	0	0
KCNT2	343450	broad.mit.edu	37	1	196577363	196577363	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:196577363C>T	ENST00000367433.5	-	1	178	c.77G>A	c.(76-78)gGa>gAa	p.G26E	KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.G26E|KCNT2_ENST00000294725.8_Missense_Mutation_p.G26E			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	26						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTTTTGCCATCCTTGGTCCCC	0.517000													20	80					0	0	0.00229938	0	0
TJP3	27134	broad.mit.edu	37	19	3734327	3734327	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:3734327A>T	ENST00000541714.2	+	8	1342	c.880A>T	c.(880-882)Atc>Ttc	p.I294F	TJP3_ENST00000382008.3_Missense_Mutation_p.I308F|TJP3_ENST00000262968.9_Missense_Mutation_p.I327F|TJP3_ENST00000587686.1_Missense_Mutation_p.I313F|TJP3_ENST00000589378.1_Missense_Mutation_p.I303F|TJP3_ENST00000539908.2_Missense_Mutation_p.I258F	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	308						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTGCAGACATCTCGGACCT	0.612000													16	42					0	0	0.000566183	0	0
SHKBP1	92799	broad.mit.edu	37	19	41088278	41088278	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:41088278C>T	ENST00000291842.5	+	10	915	c.866C>T	c.(865-867)cCt>cTt	p.P289L	SHKBP1_ENST00000600733.1_Intron	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	289						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGGGGGTGCCTGTGGAGGCC	0.597000													30	86					0	0	0.00283554	0	0
RRAGD	58528	broad.mit.edu	37	6	90097304	90097304	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:90097304C>G	ENST00000369415.4	-	2	430	c.154G>C	c.(154-156)Gac>Cac	p.D52H	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.2_Intron	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	52					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		TCACTGAAGTCCAGAACTGGA	0.443000													58	204					0	0	0.000781405	0	0
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs112443847		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716000													3	23					0	0	0.00024832	0	0
CD96	10225	broad.mit.edu	37	3	111263901	111263901	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:111263901G>A	ENST00000352690.4	+	2	310	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	CD96_ENST00000283285.5_Missense_Mutation_p.E24K|CD96_ENST00000438817.2_Missense_Mutation_p.E24K	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	24					cell adhesion|immune response|regulation of immune response	integral to plasma membrane		p.E24K(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AGGAGTTTGGGAAAAAACAGT	0.403000									Opitz Trigonocephaly syndrome				21	96					0	0	0.00188189	0	0
ZFP30	22835	broad.mit.edu	37	19	38125950	38125950	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:38125950C>T	ENST00000351218.2	-	6	2049	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000392144.1_Missense_Mutation_p.E498K|ZFP30_ENST00000514101.2_Missense_Mutation_p.E498K	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E498K(1)		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)			TTTTTACATTCCTTACATTTG	0.338000													27	56					0	0	0.000586117	0	0
AOAH	313	broad.mit.edu	37	7	36588237	36588237	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:36588237C>T	ENST00000431169.1	-	15	1414	c.1114G>A	c.(1114-1116)Gga>Aga	p.G372R	AOAH_ENST00000535891.1_Missense_Mutation_p.G340R|AOAH_ENST00000538464.1_Missense_Mutation_p.G94R|AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000258749.5_Missense_Mutation_p.G372R	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	372					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACATCATTTCCAATCATGGCA	0.443000													13	57					0	0	0.00244969	0	0
KALRN	8997	broad.mit.edu	37	3	124103806	124103806	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:124103806C>T	ENST00000360013.3	+	11	2006	c.1879C>T	c.(1879-1881)Caa>Taa	p.Q627*	KALRN_ENST00000460856.1_Nonsense_Mutation_p.Q627*|KALRN_ENST00000240874.3_Nonsense_Mutation_p.Q627*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	627					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGTGCGCATCCAAGACTTCGT	0.577000													17	41					0	0	0.000566183	0	0
COL4A4	1286	broad.mit.edu	37	2	227945185	227945185	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:227945185C>T	ENST00000396625.3	-	24	1984	c.1777G>A	c.(1777-1779)Gga>Aga	p.G593R	COL4A4_ENST00000329662.7_Missense_Mutation_p.G593R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	593	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)		CCTTTTTCTCCAGCATGTCCA	0.463000													37	138					0	0	0.00170553	0	0
P2RX1	5023	broad.mit.edu	37	17	3802970	3802970	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:3802970C>T	ENST00000225538.3	-	8	1107	c.833G>A	c.(832-834)gGg>gAg	p.G278E		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	278					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		TTCGTACAGCCCATGGAACTC	0.562000													21	46					0	0	0.00188189	0	0
CYP2J2	1573	broad.mit.edu	37	1	60370661	60370661	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:60370661G>A	ENST00000371204.3	-	7	1116	c.1073C>T	c.(1072-1074)tCc>tTc	p.S358F	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	358					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					GTAGGGCATGGACTCCCGGGC	0.517000													30	91					0	0	0.0024448	0	0
PXDNL	137902	broad.mit.edu	37	8	52321683	52321683	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:52321683G>A	ENST00000356297.4	-	17	2601	c.2501C>T	c.(2500-2502)tCc>tTc	p.S834F	PXDNL_ENST00000543296.1_Missense_Mutation_p.S834F	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	834					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)				GGTGCAGACGGAGCTGCACGG	0.677000													6	22					0	0	0.00116845	0	0
ZBTB49	166793	broad.mit.edu	37	4	4322395	4322395	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:4322395C>T	ENST00000337872.4	+	8	1771	c.1650C>T	c.(1648-1650)ctC>ctT	p.L550L	ZBTB49_ENST00000355834.3_Silent_p.L428L|ZBTB49_ENST00000538529.1_Silent_p.L33L	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CAGGTGACCTCCGCAGGCATG	0.507000													19	60					0	0	0.000958276	0	0
SCN10A	6336	broad.mit.edu	37	3	38835370	38835370	+	Silent	SNP	C	C	T	rs138739418		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:38835370C>T	ENST00000449082.2	-	1	131	c.132G>A	c.(130-132)caG>caA	p.Q44Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	44					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTTGGTCCTTCTGCTCCCTAT	0.542000													37	113					0	0	0.00128727	0	0
DOCK6	57572	broad.mit.edu	37	19	11327937	11327937	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:11327937G>A	ENST00000294618.7	-	29	3692	c.3681C>T	c.(3679-3681)tcC>tcT	p.S1227S	DOCK6_ENST00000319867.7_Silent_p.S566S	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1227					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TGCTGGCCCGGGAGCCAGGGG	0.572000													6	21					0	0	0.00116845	0	0
ANAPC11	51529	broad.mit.edu	37	17	79857225	79857225	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:79857225C>T	ENST00000357385.3	+	3	353	c.217C>T	c.(217-219)Cca>Tca	p.P73S	ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000579133.1_Intron|ANAPC11_ENST00000578544.1_Intron|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000578550.1_Intron|ANAPC11_ENST00000572851.2_Intron|ANAPC11_ENST00000577747.1_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000575195.2_Intron|ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000571874.2_Intron|ANAPC11_ENST00000344877.5_Intron|ANAPC11_ENST00000571024.2_Intron|ANAPC11_ENST00000579978.1_Intron|ANAPC11_ENST00000572639.1_Intron	NM_001002244.1	NP_001002244.1	Q9NYG5	APC11_HUMAN	anaphase promoting complex subunit 11	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	zinc ion binding			kidney(1)|lung(1)	2	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CACAGCTTCCCCAACGCCTGG	0.602000													11	32					0	0	0.000673444	0	0
CCDC170	80129	broad.mit.edu	37	6	151939261	151939261	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:151939261C>T	ENST00000367290.5	+	11	2237	c.2148C>T	c.(2146-2148)ggC>ggT	p.G716G	CCDC170_ENST00000239374.7_Silent_p.G709G			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	709																	ACCCACAAGGCCATTTACAGC	0.443000													17	57					0	0	0.000566183	0	0
ADO	84890	broad.mit.edu	37	10	64564988	64564988	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:64564988C>T	ENST00000373783.1	+	1	473	c.169C>T	c.(169-171)Ctc>Ttc	p.L57F	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	57							cysteamine dioxygenase activity|metal ion binding			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GCTGAAGAGCCTCCTGACCCA	0.706000													6	16					0	0	0.00198382	0	0
TRIM28	10155	broad.mit.edu	37	19	59060795	59060795	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:59060795C>T	ENST00000253024.5	+	13	2049	c.1760C>T	c.(1759-1761)gCt>gTt	p.A587V	TRIM28_ENST00000341753.6_Missense_Mutation_p.A505V	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	587					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGTCCTGGTGCTGAGGGTCCC	0.667000													26	91					0	0	0.00127121	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990330	39990330	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr20:39990330C>T	ENST00000332312.3	-	4	2071	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	627						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				ACTTCGGCTTCCACCTTGCGT	0.617000													17	37					0	0	0.000422831	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356754	37356754	+	Silent	SNP	C	C	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr20:37356754C>G	ENST00000217420.1	+	2	1313	c.1050C>G	c.(1048-1050)ctC>ctG	p.L350L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	350					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CCTGCGTGCTCAAGGGCCTCT	0.617000													3	50					0	0	6.4e-05	0	0
SCML2	10389	broad.mit.edu	37	X	18338476	18338476	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:18338476C>T	ENST00000251900.4	-	6	621	c.462G>A	c.(460-462)atG>atA	p.M154I		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	154					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TGGCAGATGCCATTTCAGACC	0.343000													28	27					0	0	0.00127121	0	0
MUC17	140453	broad.mit.edu	37	7	100684970	100684970	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:100684970G>A	ENST00000306151.4	+	3	10337	c.10273G>A	c.(10273-10275)Gac>Aac	p.D3425N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3425	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)					AACTCCTGTGGACTCCAACAC	0.502000													65	196					0	0	0.000781405	0	0
R3HDM1	23518	broad.mit.edu	37	2	136479539	136479539	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:136479539C>T	ENST00000264160.4	+	24	3192	c.2822C>T	c.(2821-2823)cCt>cTt	p.P941L	R3HDM1_ENST00000409606.1_Missense_Mutation_p.P942L|R3HDM1_ENST00000410054.1_Missense_Mutation_p.P886L|R3HDM1_ENST00000329971.3_Missense_Mutation_p.P812L|R3HDM1_ENST00000409478.1_Missense_Mutation_p.P813L	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	941							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CAGTACAATCCTCCTGCTGTT	0.458000													13	60					0	0	0.00074312	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401601	77401601	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:77401601C>T	ENST00000282849.5	-	4	933	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	172					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R172Q(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCATTTTTTCGTGTCCTTAT	0.463000													8	40					0	0	0.000274275	0	0
CRTAP	10491	broad.mit.edu	37	3	33171484	33171484	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:33171484C>T	ENST00000320954.6	+	4	946	c.847C>T	c.(847-849)Cca>Tca	p.P283S	CRTAP_ENST00000449224.1_Intron|CRTAP_ENST00000485310.1_3'UTR	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	283						proteinaceous extracellular matrix	binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						GAACCTCACCCCAGTTATAGG	0.368000													24	82					0	0	0.000720815	0	0
TULP4	56995	broad.mit.edu	37	6	158923521	158923521	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:158923521C>T	ENST00000367097.3	+	13	4183	c.2826C>T	c.(2824-2826)acC>acT	p.T942T	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	942					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCAGTGCCACCCTGAACCGCC	0.687000													21	41					0	0	0.00152264	0	0
NLRP12	91662	broad.mit.edu	37	19	54327308	54327308	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:54327308C>T	ENST00000324134.6	-	1	289	c.121G>A	c.(121-123)Ggc>Agc	p.G41S	NLRP12_ENST00000391775.3_Missense_Mutation_p.G41S|NLRP12_ENST00000351894.4_Missense_Mutation_p.G41S|NLRP12_ENST00000354278.3_Missense_Mutation_p.G41S|NLRP12_ENST00000345770.5_Missense_Mutation_p.G41S|NLRP12_ENST00000391772.1_Missense_Mutation_p.G41S|NLRP12_ENST00000535162.1_Missense_Mutation_p.G41S|NLRP12_ENST00000391773.1_Missense_Mutation_p.G41S	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	41	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGGATCTTGCCTTCTCCCAGC	0.602000													21	47					0	0	0.00188189	0	0
IGHV3-13	28449	broad.mit.edu	37	14	106586347	106586347	+	RNA	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:106586347G>A	ENST00000390602.2	-	0	217																											TACTGAAGGTGAATCCAGAGG	0.567000													23	134					0	0	0.000586117	0	0
KLKB1	3818	broad.mit.edu	37	4	187179291	187179291	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:187179291C>T	ENST00000264690.6	+	15	2029	c.1842C>T	c.(1840-1842)gtC>gtT	p.V614V	KLKB1_ENST00000513864.1_3'UTR	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	614	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ACACCAAAGTCGCTGAGTACA	0.507000													19	59					0	0	0.000958276	0	0
MMP16	4325	broad.mit.edu	37	8	89068426	89068426	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:89068426G>A	ENST00000286614.6	-	8	1584	c.1303C>T	c.(1303-1305)Ccc>Tcc	p.P435S		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	435	Hemopexin-like 2.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CCATGAGGGGGAATTCCACTT	0.423000													19	53					0	0	0.00152264	0	0
KIAA1524	57650	broad.mit.edu	37	3	108288297	108288297	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:108288297G>A	ENST00000295746.8	-	9	1128	c.1052C>T	c.(1051-1053)cCt>cTt	p.P351L	KIAA1524_ENST00000491772.1_Missense_Mutation_p.P192L|KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	351						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCGTCCAAAGGTTGGCTTAA	0.428000													11	31					0	0	0.000673444	0	0
MLXIPL	51085	broad.mit.edu	37	7	73011947	73011947	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:73011947G>A	ENST00000313375.3	-	9	1215	c.1168C>T	c.(1168-1170)Cct>Tct	p.P390S	MLXIPL_ENST00000434326.1_Missense_Mutation_p.P297S|MLXIPL_ENST00000429400.2_Missense_Mutation_p.P390S|MLXIPL_ENST00000414749.2_Missense_Mutation_p.P390S|MLXIPL_ENST00000395189.1_Missense_Mutation_p.P297S|MLXIPL_ENST00000354613.1_Missense_Mutation_p.P390S	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	390	Poly-Pro.				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGGGTACAGGAGGGGGTGGG	0.672000													4	11					0	0	0.00024832	0	0
NAALADL2	254827	broad.mit.edu	37	3	175520981	175520981	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:175520981G>A	ENST00000454872.1	+	14	2506	c.2378G>A	c.(2377-2379)gGg>gAg	p.G793E		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	793					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GTCTTGGATGGGAAGAATTGA	0.378000													20	37					0	0	0.000958276	0	0
PRKCSH	5589	broad.mit.edu	37	19	11559780	11559780	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:11559780C>T	ENST00000252455.2	+	15	1653	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	PRKCSH_ENST00000412601.1_Silent_p.L436L|PRKCSH_ENST00000591462.1_Silent_p.L436L|PRKCSH_ENST00000587327.1_Silent_p.L436L|PRKCSH_ENST00000592741.1_Silent_p.L446L|PRKCSH_ENST00000589838.1_Silent_p.L439L	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	439	PRKCSH.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						AACCCAAACTCGGGGGCTCTC	0.647000													23	87					0	0	0.00106085	0	0
TTN	7273	broad.mit.edu	37	2	179403769	179403769	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:179403769C>T	ENST00000589042.1	-	353	99117	c.98893G>A	c.(98893-98895)Gat>Aat	p.D32965N	TTN_ENST00000359218.5_Missense_Mutation_p.D24025N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D31324N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D30397N|TTN_ENST00000342175.6_Missense_Mutation_p.D24092N|TTN_ENST00000460472.2_Missense_Mutation_p.D23900N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31324							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)			TACTCAGCATCGGGAACAAGC	0.483000													20	60					0	0	0.00152264	0	0
TTC22	55001	broad.mit.edu	37	1	55253402	55253402	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:55253402C>T	ENST00000371276.4	-	3	824	c.721G>A	c.(721-723)Gag>Aag	p.E241K	TTC22_ENST00000371274.4_Missense_Mutation_p.E241K	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	241							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						CGGGGGTCCTCGGACTTCAGC	0.652000													6	14					0	0	0.000157383	0	0
HYAL4	23553	broad.mit.edu	37	7	123514836	123514836	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:123514836G>A	ENST00000223026.4	+	4	1614	c.976G>A	c.(976-978)Gga>Aga	p.G326R	HYAL4_ENST00000476325.1_Missense_Mutation_p.G326R	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	326					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CAGCACCATAGGAGAAAGTGC	0.438000													13	62					0	0	0.00185496	0	0
ELOF1	84337	broad.mit.edu	37	19	11664867	11664867	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:11664867G>A	ENST00000586683.1	-	3	203	c.146C>T	c.(145-147)tCt>tTt	p.S49F	ELOF1_ENST00000587806.1_Missense_Mutation_p.S70F|ELOF1_ENST00000590700.1_Missense_Mutation_p.S49F|ELOF1_ENST00000591912.1_Missense_Mutation_p.S49F|ELOF1_ENST00000591674.1_Missense_Mutation_p.S56F|ELOF1_ENST00000586120.1_Missense_Mutation_p.S49F|ELOF1_ENST00000252445.3_Missense_Mutation_p.S49F|ELOF1_ENST00000589171.1_Missense_Mutation_p.S49F			P60002	ELOF1_HUMAN	elongation factor 1 homolog (S. cerevisiae)	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			endometrium(3)|lung(2)	5						CACGGTACAAGAGATGACTCC	0.587000													43	96					0	0	0.000781405	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96523137	96523137	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:96523137C>T	ENST00000456556.1	-	62	4084	c.4000G>A	c.(4000-4002)Gct>Act	p.A1334T	ANKRD36C_ENST00000419039.2_Missense_Mutation_p.A361T|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.A585T					ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GTCACATCAGCTTCTATCCTA	0.348000													16	43					0	0	0.000566183	0	0
S1PR1	1901	broad.mit.edu	37	1	101705126	101705126	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:101705126C>T	ENST00000305352.6	+	2	961	c.586C>T	c.(586-588)Ccg>Tcg	p.P196S		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	196					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CACCGTGCTGCCGCTCTACCA	0.562000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	78					0	0	0.00106085	0	0
SEMA3G	56920	broad.mit.edu	37	3	52474028	52474028	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:52474028G>A	ENST00000231721.2	-	11	1229	c.1230C>T	c.(1228-1230)gcC>gcT	p.A410A		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	410	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TGAGGGGGTGGGCTCGGGCAA	0.647000													27	82					0	0	0.001512	0	0
HAP1	9001	broad.mit.edu	37	17	39887995	39887995	+	Splice_Site	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:39887995C>T	ENST00000393939.2	-	5	906	c.896_splice	c.e5-1	p.L299_splice	JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Splice_Site_p.L299_splice|HAP1_ENST00000341193.5_Splice_Site_p.L307_splice|HAP1_ENST00000310778.5_Splice_Site_p.L299_splice			P54257	HAP1_HUMAN	huntingtin-associated protein 1	299	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCTGCGAAATCCTAGGGGAGG	0.592000													8	31					0	0	0.000157383	0	0
PLEKHN1	84069	broad.mit.edu	37	1	905948	905948	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:905948C>T	ENST00000379409.2	+	4	408	c.378C>T	c.(376-378)ttC>ttT	p.F126F	PLEKHN1_ENST00000379407.2_Silent_p.F126F|PLEKHN1_ENST00000379410.3_Silent_p.F126F			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	126	PH 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACCTGTACTTCCAGGCCCACG	0.657000													12	48					0	0	0.00244969	0	0
TTLL10	254173	broad.mit.edu	37	1	1120465	1120465	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:1120465G>A	ENST00000379290.1	+	13	1550	c.1377G>A	c.(1375-1377)aaG>aaA	p.K459K	TTLL10_ENST00000379288.3_Silent_p.K386K|TTLL10_ENST00000379289.1_Silent_p.K459K			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	459	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCCTCGCCAAGGACTGGGTCT	0.637000													6	22					0	0	0.00116845	0	0
PCDH15	65217	broad.mit.edu	37	10	55755466	55755466	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:55755466C>T	ENST00000373965.2	-	22	3226	c.2832G>A	c.(2830-2832)ccG>ccA	p.P944P	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Silent_p.P548P|PCDH15_ENST00000437009.1_Silent_p.P866P|PCDH15_ENST00000373955.1_Silent_p.P937P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Silent_p.P937P|PCDH15_ENST00000414778.1_Silent_p.P942P|PCDH15_ENST00000361849.3_Silent_p.P937P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Silent_p.P937P|PCDH15_ENST00000395438.1_Silent_p.P937P|PCDH15_ENST00000395445.1_Silent_p.P944P|PCDH15_ENST00000395432.2_Silent_p.P900P|PCDH15_ENST00000395433.1_Silent_p.P915P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	937	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGACTGCATCCGGAGCCACCA	0.393000										HNSCC(58;0.16)			21	52					0	0	0.00152264	0	0
DYSF	8291	broad.mit.edu	37	2	71778184	71778184	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:71778184G>A	ENST00000258104.3	+	18	1813	c.1536G>A	c.(1534-1536)ctG>ctA	p.L512L	DYSF_ENST00000410041.1_Silent_p.L530L|DYSF_ENST00000409651.1_Silent_p.L544L|DYSF_ENST00000413539.2_Silent_p.L543L|DYSF_ENST00000409366.1_Silent_p.L513L|DYSF_ENST00000410020.3_Silent_p.L530L|DYSF_ENST00000409762.1_Silent_p.L529L|DYSF_ENST00000409744.1_Silent_p.L499L|DYSF_ENST00000429174.2_Silent_p.L512L|DYSF_ENST00000409582.3_Silent_p.L529L|DYSF_ENST00000394120.2_Silent_p.L513L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	512						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATGACTACCTGGGCTTCCTCC	0.597000													23	64					0	0	0.000586117	0	0
TP63	8626	broad.mit.edu	37	3	189526267	189526267	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:189526267C>T	ENST00000264731.3	+	4	620	c.531C>T	c.(529-531)ttC>ttT	p.F177F	TP63_ENST00000382063.4_Intron|TP63_ENST00000437221.1_Silent_p.F83F|TP63_ENST00000449992.1_Intron|TP63_ENST00000320472.5_Silent_p.F177F|TP63_ENST00000392463.2_Silent_p.F83F|TP63_ENST00000392460.3_Silent_p.F177F|TP63_ENST00000354600.5_Silent_p.F83F|TP63_ENST00000456148.1_Silent_p.F83F|TP63_ENST00000392461.3_Silent_p.F83F|TP63_ENST00000440651.2_Silent_p.F177F|TP63_ENST00000418709.2_Silent_p.F177F	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	177				F -> S (in Ref. 1; BAA32433).	anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.F177F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CGCACAGTTTCGACGTGTCCT	0.652000										HNSCC(45;0.13)			12	41					0	0	0.00185496	0	0
ZFP42	132625	broad.mit.edu	37	4	188924208	188924208	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:188924208C>T	ENST00000326866.4	+	4	655	c.247C>T	c.(247-249)Caa>Taa	p.Q83*	ZFP42_ENST00000509524.1_Nonsense_Mutation_p.Q83*	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	83					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TGAGTTTTCTCAACCCATCCT	0.463000													16	61					0	0	0.000422831	0	0
CHMP4C	92421	broad.mit.edu	37	8	82670747	82670747	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:82670747G>A	ENST00000297265.4	+	5	863	c.670G>A	c.(670-672)Gat>Aat	p.D224N		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	224	Intramolecular interaction with N- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						AGAGGATGATGATATCAAACA	0.318000													21	59					0	0	0.000586117	0	0
POLR2M	81488	broad.mit.edu	37	15	58001015	58001015	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:58001015G>A	ENST00000299638.3	+	2	431	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	GCOM1_ENST00000484300.1_Intron|POLR2M_ENST00000464308.1_3'UTR|GCOM1_ENST00000380569.2_Intron|GCOM1_ENST00000587652.1_Missense_Mutation_p.E470K|POLR2M_ENST00000380557.4_Intron|GCOM1_ENST00000380568.3_Intron|POLR2M_ENST00000380563.2_Missense_Mutation_p.E73K	NM_015532.3	NP_056347.1			polymerase (RNA) II (DNA directed) polypeptide M																		AAGAAAAAGTGAACTGTTTAA	0.388000													29	72					0	0	0.000878237	0	0
SLC22A14	9389	broad.mit.edu	37	3	38347620	38347620	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:38347620G>A	ENST00000273173.4	+	1	194	c.103G>A	c.(103-105)Gag>Aag	p.E35K	SLC22A14_ENST00000448498.1_Missense_Mutation_p.E35K	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	35						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)		CTGGTCTCTGGAGATGCTGTT	0.542000													28	91					0	0	0.00178596	0	0
TRMT1L	81627	broad.mit.edu	37	1	185114617	185114617	+	Silent	SNP	A	A	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:185114617A>G	ENST00000367504.3	-	5	880	c.141T>C	c.(139-141)gtT>gtC	p.V47V	TRMT1L_ENST00000367506.5_Silent_p.V203V			Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	203						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGTGGCGCCTAACATGTCCTA	0.338000													19	88					0	0	0.000958276	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45919724	45919724	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:45919724G>A	ENST00000395629.2	+	2	490	c.160G>A	c.(160-162)Gac>Aac	p.D54N	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.D64N			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	64					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		ACAGTGCAAAGACACCCTGTC	0.562000													10	25					0	0	0.000442599	0	0
KSR2	283455	broad.mit.edu	37	12	117962858	117962858	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:117962858C>T	ENST00000425217.1	-	14	1985	c.1931G>A	c.(1930-1932)gGa>gAa	p.G644E	KSR2_ENST00000302438.5_Missense_Mutation_p.G370E|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.G673E	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	673					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)					GCGGCCCTTTCCAATGAGCTC	0.622000													6	49					0	0	0.00198382	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169131	50169131	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:50169131C>T	ENST00000246785.3	+	1	309	c.51C>T	c.(49-51)ttC>ttT	p.F17F	BCL2L12_ENST00000441864.2_Silent_p.F17F|IRF3_ENST00000377139.3_5'UTR|BCL2L12_ENST00000246784.3_Silent_p.F17F	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	17					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		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;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TTTTGGGTTTCCGGCCAGAGG	0.572000													27	62					0	0	0.00127121	0	0
ALPK2	115701	broad.mit.edu	37	18	56246704	56246704	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:56246704G>T	ENST00000361673.3	-	4	1517	c.1304C>A	c.(1303-1305)cCt>cAt	p.P435H		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	435							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATCCTGGTGAGGTCCCAAAAT	0.517000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	88					2.08457e-15	1.03318e-14	0.00209593	1	0
DNAH7	56171	broad.mit.edu	37	2	196774837	196774837	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:196774837C>T	ENST00000312428.6	-	25	4118	c.4018G>A	c.(4018-4020)Gat>Aat	p.D1340N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1340	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTGCCAAATCCTTGGTAGTT	0.423000													8	30					0	0	0.000157383	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576648	33576648	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:33576648T>G	ENST00000504830.1	-	19	3818	c.3483A>C	c.(3481-3483)gaA>gaC	p.E1161D	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E1076D	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1161	Spacer 2.				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						GTTCTCTTTCTTCCCCTGAGC	0.463000										HNSCC(64;0.19)			19	108					0	0	0.00152264	0	0
OR2M5	127059	broad.mit.edu	37	1	248308467	248308467	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:248308467G>A	ENST00000366476.1	+	1	18	c.18G>A	c.(16-18)caG>caA	p.Q6Q		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GGGAGAATCAGACCTTCAACT	0.428000													67	241					0	0	0.000781405	0	0
UNC5D	137970	broad.mit.edu	37	8	35579852	35579852	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:35579852C>T	ENST00000287272.2	+	8	1094	c.1074C>T	c.(1072-1074)gtC>gtT	p.V358V	UNC5D_ENST00000416672.1_Silent_p.V419V|UNC5D_ENST00000453357.2_Silent_p.V409V|UNC5D_ENST00000404895.2_Silent_p.V414V|UNC5D_ENST00000420357.1_Silent_p.V347V			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	414	TSP type-1 2.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GCGTGGACGTCATTGACTCTT	0.562000													57	171					0	0	0.000781405	0	0
EDC4	23644	broad.mit.edu	37	16	67910401	67910401	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:67910401G>A	ENST00000358933.5	+	3	489	c.250G>A	c.(250-252)Gga>Aga	p.G84R	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	84					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGTCTCTCAGGAGATGATAG	0.542000													14	49					0	0	0.00185496	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064434	78064434	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:78064434C>T	ENST00000299642.4	+	3	402	c.317C>T	c.(316-318)tCc>tTc	p.S106F	CLEC3A_ENST00000565808.1_3'UTR|CLEC3A_ENST00000575655.1_Missense_Mutation_p.S97F|RP11-281J9.2_ENST00000563114.1_RNA	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	97	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GACTGCATTTCCAAAGGAGGA	0.473000													22	49					0	0	0.00229938	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:155887393T>G	ENST00000368320.3	-	11	1362	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P			Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000													8	38					0	0	0.00136819	0	0
MLLT10	8028	broad.mit.edu	37	10	22029050	22029050	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:22029050C>T	ENST00000307729.7	+	22	3225	c.3047C>T	c.(3046-3048)cCa>cTa	p.P1016L	MLLT10_ENST00000446906.2_Intron|MLLT10_ENST00000377072.3_Intron|MLLT10_ENST00000377059.3_Intron			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	0					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						ATCCCTGGACCAACACAAATA	0.478000			T	"""MLL, PICALM, CDK6"""	AL								17	42					0	0	0.000566183	0	0
RGS11	8786	broad.mit.edu	37	16	320597	320597	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:320597G>A	ENST00000397770.3	-	15	1148	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Silent_p.T366T|RGS11_ENST00000316163.5_Silent_p.T356T			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	377	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCCCCTCCAGGGTCTGCTCCA	0.657000													7	11					0	0	0.000157383	0	0
NPHS2	7827	broad.mit.edu	37	1	179521770	179521770	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:179521770C>T	ENST00000367615.4	-	7	909	c.841G>A	c.(841-843)Gag>Aag	p.E281K	NPHS2_ENST00000367616.4_Missense_Mutation_p.E213K|AXDND1_ENST00000367618.3_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	281					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GCTTCAGCCTCCACAGCCAGT	0.532000													12	36					0	0	0.00244969	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187703825	187703825	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:187703825G>A	ENST00000295131.2	-	4	394	c.355C>T	c.(355-357)Ccc>Tcc	p.P119S		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	119					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCTGGTTGGGGAGTTTGAACT	0.393000													50	195					0	0	0.000781405	0	0
IL37	27178	broad.mit.edu	37	2	113675270	113675270	+	Silent	SNP	G	G	A	rs150018952	by1000genomes	TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:113675270G>A	ENST00000263326.3	+	4	366	c.324G>A	c.(322-324)ccG>ccA	p.P108P	IL37_ENST00000311328.2_Silent_p.P82P|IL37_ENST00000353225.3_Silent_p.P68P|IL37_ENST00000352179.3_Silent_p.P87P|IL37_ENST00000349806.3_Silent_p.P47P	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	108			P -> L (in dbSNP:rs2723187).		immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						AAGGAAGTCCGATTCTCCTGG	0.483000													56	162					0	0	0.000781405	0	0
DHRSX	207063	broad.mit.edu	37	X	2209550	2209550	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:2209550G>A	ENST00000334651.5	-	4	433	c.381C>T	c.(379-381)atC>atT	p.I127I		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	127							binding|oxidoreductase activity	p.I127I(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CACCATTGTTGATCAGGACAT	0.443000													57	186					0	0	0.000781405	0	0
FBXL2	25827	broad.mit.edu	37	3	33418781	33418781	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:33418781C>T	ENST00000484457.1	+	11	896	c.805C>T	c.(805-807)Cga>Tga	p.R269*	FBXL2_ENST00000538181.1_Nonsense_Mutation_p.R185*|FBXL2_ENST00000507198.1_Nonsense_Mutation_p.R201*|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538892.1_Nonsense_Mutation_p.R201*	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	269					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GGAGGCTGCCCGATGCTCCCA	0.408000													41	87					0	0	0.000781405	0	0
RP1	6101	broad.mit.edu	37	8	55534763	55534763	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:55534763C>T	ENST00000220676.1	+	3	850	c.702C>T	c.(700-702)atC>atT	p.I234I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	234					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)			ATTATGACATCCAAAAATACT	0.478000													19	48					0	0	0.00074312	0	0
DSG1	1828	broad.mit.edu	37	18	28918295	28918295	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:28918295A>T	ENST00000257192.4	+	10	1495	c.1283A>T	c.(1282-1284)aAt>aTt	p.N428I		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	428	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATGGGAAATAATCCAGCTGAC	0.303000													19	49					0	0	0.00152264	0	0
PPP1R10	5514	broad.mit.edu	37	6	30577733	30577733	+	Splice_Site	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:30577733C>T	ENST00000376511.2	-	3	542		c.e3-1		PPP1R10_ENST00000484449.1_Splice_Site	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10						protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						ATGGTGGTTTCTATGGTAAGA	0.468000													22	50					0	0	0.00229938	0	0
ZRANB3	84083	broad.mit.edu	37	2	135988399	135988399	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:135988399C>T	ENST00000401392.1	-	13	1850	c.1638G>A	c.(1636-1638)cgG>cgA	p.R546R	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000264159.6_Silent_p.R546R|ZRANB3_ENST00000536680.1_Silent_p.R546R			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	546			R -> Q (in dbSNP:rs7608121).			intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TATTTTCCTCCCGGAATCTCT	0.363000													18	86					0	0	0.00074312	0	0
AZU1	566	broad.mit.edu	37	19	831808	831808	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:831808C>T	ENST00000233997.2	+	5	708	c.687C>T	c.(685-687)ttC>ttT	p.F229F		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	229	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGACTTCTTCACCCGAGTGG	0.706000													8	45					0	0	0.000442599	0	0
LAMA3	3909	broad.mit.edu	37	18	21487794	21487794	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:21487794G>A	ENST00000313654.9	+	54	7151	c.6910G>A	c.(6910-6912)Gat>Aat	p.D2304N	LAMA3_ENST00000399516.3_Missense_Mutation_p.D2248N|LAMA3_ENST00000269217.6_Missense_Mutation_p.D695N|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.D639N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2304	Domain II and I.				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)	TGAGGTTCTGGATGGGCTCAA	0.458000													35	80					0	0	0.00058488	0	0
NEK11	79858	broad.mit.edu	37	3	130884308	130884308	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:130884308G>A	ENST00000383366.4	+	12	1414	c.1121G>A	c.(1120-1122)cGa>cAa	p.R374Q	NEK11_ENST00000412440.2_Missense_Mutation_p.R226Q|NEK11_ENST00000511262.1_Missense_Mutation_p.R374Q|NEK11_ENST00000429253.2_Missense_Mutation_p.R374Q|NEK11_ENST00000356918.4_Missense_Mutation_p.R374Q|NEK11_ENST00000507910.1_Missense_Mutation_p.R374Q|NEK11_ENST00000508196.1_Missense_Mutation_p.R374Q|NEK11_ENST00000510769.1_Missense_Mutation_p.R269Q|NEK11_ENST00000510688.1_Missense_Mutation_p.R374Q	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	374					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AATAGCAAACGAATGCAAGAA	0.299000													7	28					0	0	0.000274275	0	0
SCN11A	11280	broad.mit.edu	37	3	38888526	38888526	+	Missense_Mutation	SNP	G	G	A	rs143537709		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:38888526G>A	ENST00000450244.1	-	26	5233	c.5035C>T	c.(5035-5037)Cgc>Tgc	p.R1679C	SCN11A_ENST00000456224.3_Missense_Mutation_p.R1641C|SCN11A_ENST00000302328.3_Missense_Mutation_p.R1679C			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1679					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1679C(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAGTGGAGGCGATCTTCACTC	0.463000													18	64					0	0	0.00074312	0	0
MORN1	79906	broad.mit.edu	37	1	2290117	2290117	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:2290117G>A	ENST00000378531.3	-	9	956	c.783C>T	c.(781-783)gtC>gtT	p.V261V	MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Silent_p.V261V	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	261										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		GCACGTATCTGACGCCCGCTG	0.587000													7	18					0	0	0.00198382	0	0
SLC16A8	23539	broad.mit.edu	37	22	38474436	38474436	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr22:38474436C>T	ENST00000320521.5	-	5	1582	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K	SLC16A8_ENST00000469516.1_5'UTR	NM_013356.2	NP_037488.2	O95907	MOT3_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 8	492					blood coagulation|leukocyte migration|pyruvate metabolic process	integral to plasma membrane|membrane fraction	lactate transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			kidney(1)|large_intestine(1)|prostate(1)	3	Melanoma(58;0.045)				Pyruvic acid(DB00119)	GCCTCTATTTCTGGTTCTGTG	0.632000													29	64					0	0	0.00106085	0	0
ABCA13	154664	broad.mit.edu	37	7	48273685	48273685	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:48273685C>T	ENST00000435803.1	+	8	858	c.834C>T	c.(832-834)tcC>tcT	p.S278S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	278					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCTCAAATCCCAGTTTGGCT	0.463000													25	51					0	0	0.000586117	0	0
SLC1A6	6511	broad.mit.edu	37	19	15079155	15079155	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:15079155C>T	ENST00000598504.1	-	6	1867	c.508G>A	c.(508-510)Gag>Aag	p.E170K	SLC1A6_ENST00000430939.2_Intron|SLC1A6_ENST00000600144.1_Missense_Mutation_p.E170K|SLC1A6_ENST00000221742.3_Missense_Mutation_p.E170K|SLC1A6_ENST00000544886.2_Missense_Mutation_p.E170K	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	170					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GGGATGGTCTCGATCCGGCCC	0.522000													5	25					0	0	0.00116845	0	0
MAP1A	4130	broad.mit.edu	37	15	43819889	43819889	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:43819889C>T	ENST00000382031.1	+	5	6963	c.6932C>T	c.(6931-6933)cCa>cTa	p.P2311L	MAP1A_ENST00000399453.1_Missense_Mutation_p.P2073L|MAP1A_ENST00000300231.5_Missense_Mutation_p.P2073L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2073						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGCAAAGGCCCAAGCCCCCCT	0.617000													5	21					0	0	0.00116845	0	0
OR8I2	120586	broad.mit.edu	37	11	55861627	55861627	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:55861627C>T	ENST00000302124.2	+	1	875	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	282					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)					GATTGTCATTCCCATGCTGAA	0.393000													18	39					0	0	0.00074312	0	0
GRIN1	2902	broad.mit.edu	37	9	140043520	140043520	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr9:140043520G>A	ENST00000371561.3	+	4	1727	c.630G>A	c.(628-630)gaG>gaA	p.E210E	GRIN1_ENST00000371553.3_Silent_p.E231E|GRIN1_ENST00000371555.4_Silent_p.E231E|GRIN1_ENST00000371559.4_Silent_p.E210E|GRIN1_ENST00000371560.3_Silent_p.E231E|GRIN1_ENST00000350902.5_Silent_p.E210E|GRIN1_ENST00000371550.4_Silent_p.E210E|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000315048.3_Silent_p.E210E|GRIN1_ENST00000371546.4_Silent_p.E231E	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	210					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TGCTGATGGAGGCGAAAGAGC	0.622000													6	13					0	0	0.000157383	0	0
ACPL2	92370	broad.mit.edu	37	3	140979071	140979071	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:140979071C>T	ENST00000286353.4	+	2	191	c.54C>T	c.(52-54)gcC>gcT	p.A18A	ACPL2_ENST00000393010.2_Silent_p.A18A|ACPL2_ENST00000502783.1_5'UTR	NM_001037172.1	NP_001032249.1	Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	18						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CGCTGCTGGCCTTTGTGAGCC	0.547000													17	71					0	0	0.00188189	0	0
KMT2D	8085	broad.mit.edu	37	12	49445649	49445649	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:49445649G>A	ENST00000301067.7	-	10	1816	c.1817C>T	c.(1816-1818)tCt>tTt	p.S606F		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGACAGAGGAGACTCTTCAAA	0.607000													20	65					0	0	0.00121646	0	0
INO80D	54891	broad.mit.edu	37	2	206921399	206921399	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:206921399C>T	ENST00000403263.1	-	4	891	c.487G>A	c.(487-489)Ggg>Agg	p.G163R		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	163					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						ACAGTTGCCCCTTTCTTTAGG	0.498000													6	15					0	0	0.00198382	0	0
SLC4A4	8671	broad.mit.edu	37	4	72425854	72425854	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:72425854C>T	ENST00000340595.3	+	20	3046	c.2850C>T	c.(2848-2850)ttC>ttT	p.F950F	SLC4A4_ENST00000264485.5_Silent_p.F994F|SLC4A4_ENST00000425175.1_Silent_p.F994F|SLC4A4_ENST00000351898.6_Silent_p.F910F	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	994						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ACTACCTCTTCTCCCAGCACG	0.418000													36	111					0	0	0.000692331	0	0
GUSB	2990	broad.mit.edu	37	7	65425996	65425996	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:65425996G>A	ENST00000304895.4	-	12	1974	c.1844C>T	c.(1843-1845)cCa>cTa	p.P615L	GUSB_ENST00000421103.1_Missense_Mutation_p.P469L|GUSB_ENST00000345660.6_Missense_Mutation_p.P564L	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	615					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TGCACTTTTTGGTTGTCTCTG	0.443000													64	239					0	0	0.000781405	0	0
OR6N2	81442	broad.mit.edu	37	1	158747395	158747395	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:158747395C>T	ENST00000339258.1	-	1	30	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AACACAAATTCAGCCAGGCTT	0.463000													13	36					0	0	0.00136819	0	0
SPATA21	374955	broad.mit.edu	37	1	16736461	16736461	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:16736461C>T	ENST00000335496.1	-	6	704	c.222G>A	c.(220-222)ggG>ggA	p.G74G	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Silent_p.G51G	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	74							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GGCTCTGTGTCCCTGCAGCCA	0.657000													8	41					0	0	0.000157383	0	0
PLEC	5339	broad.mit.edu	37	8	144991362	144991362	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:144991362G>A	ENST00000322810.4	-	32	13207	c.13038C>T	c.(13036-13038)atC>atT	p.I4346I	PLEC_ENST00000354589.3_Silent_p.I4209I|PLEC_ENST00000436759.2_Silent_p.I4236I|PLEC_ENST00000357649.2_Silent_p.I4213I|PLEC_ENST00000398774.2_Silent_p.I4177I|PLEC_ENST00000527096.1_Silent_p.I4232I|PLEC_ENST00000356346.3_Silent_p.I4195I|PLEC_ENST00000354958.2_Silent_p.I4187I|PLEC_ENST00000345136.3_Silent_p.I4209I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4346	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGTTCTTGGCGATGGCATCAT	0.642000													10	45					0	0	0.000442599	0	0
GRM5	2915	broad.mit.edu	37	11	88780869	88780869	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:88780869C>T	ENST00000418177.2	-	2	539	c.172G>A	c.(172-174)Ggg>Agg	p.G58R	GRM5_ENST00000305447.4_Missense_Mutation_p.G58R|GRM5_ENST00000305432.5_Missense_Mutation_p.G58R|GRM5_ENST00000455756.2_Missense_Mutation_p.G58R|GRM5_ENST00000393297.1_Missense_Mutation_p.G58R|GRM5_ENST00000393294.3_Missense_Mutation_p.G58R			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	58					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CGGACCGCCCCACACTTCCTC	0.522000													17	37					0	0	0.000566183	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	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								25	69					0	0	0.00127121	0	0
FPR3	2359	broad.mit.edu	37	19	52327351	52327351	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:52327351C>T	ENST00000339223.4	+	2	529	c.350C>T	c.(349-351)aCc>aTc	p.T117I	FPR3_ENST00000595991.1_Missense_Mutation_p.T117I	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	117					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TACCTGATCACCATCATTGCT	0.493000													21	58					0	0	0.00121646	0	0
RMDN3	55177	broad.mit.edu	37	15	41044348	41044348	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:41044348C>T	ENST00000260385.6	-	2	1283	c.216G>A	c.(214-216)ggG>ggA	p.G72G	RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Silent_p.G72G					regulator of microtubule dynamics 3																		CATCTCCAGCCCCACCTGGGA	0.607000													9	19					0	0	0.000978159	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18800909	18800909	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr12:18800909A>G	ENST00000433979.1	+	32	4401	c.4285A>G	c.(4285-4287)Agt>Ggt	p.S1429G	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S1470G|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.S1429G	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1429					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)				CCGACTCTGTAGTGTCCCACT	0.343000													9	33					0	0	0.000442599	0	0
LRRC27	80313	broad.mit.edu	37	10	134147123	134147123	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:134147123C>T	ENST00000392638.2	+	2	290	c.95C>T	c.(94-96)tCc>tTc	p.S32F	LRRC27_ENST00000356571.4_Missense_Mutation_p.S32F|LRRC27_ENST00000368614.3_Missense_Mutation_p.S32F|LRRC27_ENST00000368613.4_Missense_Mutation_p.S32F|LRRC27_ENST00000344079.5_Missense_Mutation_p.S32F|LRRC27_ENST00000368615.3_Missense_Mutation_p.S32F			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	32										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GCCACCCCCTCCAAAGATGTT	0.537000													16	56					0	0	0.000308642	0	0
RYR1	6261	broad.mit.edu	37	19	38937180	38937180	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:38937180C>T	ENST00000355481.4	+	8	831	c.700C>T	c.(700-702)Cct>Tct	p.P234S	RYR1_ENST00000360985.3_Missense_Mutation_p.P234S|RYR1_ENST00000359596.3_Missense_Mutation_p.P234S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	234	MIR 3.				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)	GACCATTTCCCCTGCTGACAG	0.592000													16	41					0	0	0.000958276	0	0
TACC2	10579	broad.mit.edu	37	10	123987465	123987465	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:123987465C>T	ENST00000369005.1	+	14	8178	c.7838C>T	c.(7837-7839)tCc>tTc	p.S2613F	TACC2_ENST00000515603.1_Missense_Mutation_p.S2568F|TACC2_ENST00000453444.2_Missense_Mutation_p.S2617F|TACC2_ENST00000369000.1_Missense_Mutation_p.S313F|TACC2_ENST00000260733.3_Missense_Mutation_p.S691F|TACC2_ENST00000334433.3_Missense_Mutation_p.S2613F|TACC2_ENST00000369001.1_Missense_Mutation_p.S317F|TACC2_ENST00000360561.3_Missense_Mutation_p.S691F|TACC2_ENST00000369004.3_Missense_Mutation_p.S703F|TACC2_ENST00000513429.1_Missense_Mutation_p.S759F|TACC2_ENST00000515273.1_Missense_Mutation_p.S2617F|TACC2_ENST00000368999.1_Missense_Mutation_p.S703F|TACC2_ENST00000358010.1_Missense_Mutation_p.S759F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2613						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCAGAGAAATCCTCCCAGAAG	0.562000													24	88					0	0	0.000878237	0	0
C8B	732	broad.mit.edu	37	1	57422541	57422541	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:57422541C>T	ENST00000543257.1	-	4	702	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	C8B_ENST00000535057.1_Missense_Mutation_p.E36K|C8B_ENST00000371237.4_Missense_Mutation_p.E98K	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	98					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TTGCACGGTTCCCCATGGAAC	0.522000													39	112					0	0	0.000814825	0	0
CASP8	841	broad.mit.edu	37	2	202131505	202131505	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:202131505C>T	ENST00000358485.4	+	2	669	c.473C>T	c.(472-474)tCt>tTt	p.S158F	CASP8_ENST00000432109.2_Missense_Mutation_p.S99F|CASP8_ENST00000392258.3_Missense_Mutation_p.S99F|CASP8_ENST00000264274.9_Missense_Mutation_p.S99F|CASP8_ENST00000323492.7_Missense_Mutation_p.S99F|CASP8_ENST00000264275.5_Missense_Mutation_p.S99F|CASP8_ENST00000392266.3_Missense_Mutation_p.S99F|CASP8_ENST00000392259.2_Missense_Mutation_p.S99F	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	99	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCTCAAATTTCTGCCTACAGG	0.493000										HNSCC(4;0.00038)			13	32					0	0	0.00185496	0	0
THBS3	7059	broad.mit.edu	37	1	155166937	155166937	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:155166937G>A	ENST00000368378.3	-	21	2587	c.2567C>T	c.(2566-2568)cCt>cTt	p.P856L	THBS3_ENST00000541990.1_Missense_Mutation_p.P385L|THBS3_ENST00000541576.1_Missense_Mutation_p.P253L|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000487250.1_Intron|THBS3_ENST00000457183.2_Missense_Mutation_p.P736L	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	856	TSP C-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TACCTGATCAGGGGTGTGGCC	0.582000													24	72					0	0	0.000586117	0	0
MCHR2	84539	broad.mit.edu	37	6	100382356	100382356	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:100382356G>A	ENST00000281806.2	-	5	939	c.625C>T	c.(625-627)Cct>Tct	p.P209S	MCHR2_ENST00000445970.1_Missense_Mutation_p.P209S|MCHR2_ENST00000369212.1_Missense_Mutation_p.P209S	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	209						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAGGGTAGAGGGAAAAAAAAA	0.338000													29	71					0	0	0.00127121	0	0
NPHS1	4868	broad.mit.edu	37	19	36334407	36334407	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:36334407G>A	ENST00000378910.5	-	17	2300	c.2301C>T	c.(2299-2301)ccC>ccT	p.P767P	NPHS1_ENST00000353632.6_Silent_p.P767P	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	767	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGGGAGGATGGGATTGGCAT	0.577000													34	121					0	0	0.00283554	0	0
TIMM22	29928	broad.mit.edu	37	17	900385	900385	+	Translation_Start_Site	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:900385G>A	ENST00000327158.3	+	1	29	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	1					transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CGACTGTCATGGCGGCGGCCG	0.667000													11	18					0	0	0.00136819	0	0
SCNN1G	6340	broad.mit.edu	37	16	23203837	23203837	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:23203837C>T	ENST00000300061.2	+	4	926	c.783C>T	c.(781-783)ttC>ttT	p.F261F		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	261					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGACCTGCTTCTTTGATGGAG	0.512000													8	23					0	0	0.000274275	0	0
HECW2	57520	broad.mit.edu	37	2	197185159	197185159	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:197185159G>A	ENST00000260983.2	-	8	1071	c.889C>T	c.(889-891)Caa>Taa	p.Q297*	HECW2_ENST00000409111.1_Intron	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	297					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTGAGCATTTGATCACTGCAA	0.507000													8	23					0	0	0.000442599	0	0
COL4A4	1286	broad.mit.edu	37	2	227886846	227886846	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:227886846G>A	ENST00000396625.3	-	44	4341	c.4134C>T	c.(4132-4134)atC>atT	p.I1378I	COL4A4_ENST00000329662.7_Silent_p.I1375I	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1378	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)		GAAGGCCTGGGATTCGGGGAC	0.582000													25	216					0	0	0.000878237	0	0
MYO7A	4647	broad.mit.edu	37	11	76903100	76903100	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:76903100C>T	ENST00000409709.3	+	31	4201	c.3929C>T	c.(3928-3930)tCc>tTc	p.S1310F	MYO7A_ENST00000409619.2_Missense_Mutation_p.S1299F|MYO7A_ENST00000458637.2_Missense_Mutation_p.S1310F	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1310	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCACAGGTGTCCTCCCTGGGC	0.652000											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	22					0	0	0.000978159	0	0
N4BP2	55728	broad.mit.edu	37	4	40104765	40104765	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:40104765A>C	ENST00000261435.6	+	4	1716	c.1300A>C	c.(1300-1302)Aag>Cag	p.K434Q		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	434						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						TGTAAGAAAGAAGACATCTTA	0.378000													4	92					0	0	0.00198382	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133670117	133670117	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:133670117C>T	ENST00000310926.4	-	6	1069	c.796G>A	c.(796-798)Gct>Act	p.A266T	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A190T	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	266					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						ACCAATAAAGCTGAAGAAATG	0.498000													25	55					0	0	0.00278032	0	0
CPXM2	119587	broad.mit.edu	37	10	125528188	125528188	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:125528188C>T	ENST00000241305.3	-	9	1307	c.1153G>A	c.(1153-1155)Ggc>Agc	p.G385S	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	385					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AGCTCCCGGCCCAGCACCTCA	0.597000													23	95					0	0	0.00047179	0	0
HTR5A	3361	broad.mit.edu	37	7	154863008	154863008	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:154863008G>A	ENST00000287907.2	+	1	975	c.399G>A	c.(397-399)acG>acA	p.T133T	AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_Silent_p.A2A|AC093726.4_ENST00000543018.1_Silent_p.A2A	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	133						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GGAACGTGACGGCCATAGCCC	0.647000													13	32					0	0	0.00185496	0	0
ASMT	438	broad.mit.edu	37	X	1742187	1742187	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chrX:1742187G>A	ENST00000381241.3	+	2	424	c.225G>A	c.(223-225)gtG>gtA	p.V75V	ASMT_ENST00000381233.3_Silent_p.V75V|ASMT_ENST00000381229.4_Silent_p.V75V	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	75					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCTGAAAGTGGAGACGAGGG	0.577000													18	48					0	0	0.000958276	0	0
CASD1	64921	broad.mit.edu	37	7	94174935	94174935	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr7:94174935C>T	ENST00000297273.4	+	12	1842	c.1555C>T	c.(1555-1557)Ccc>Tcc	p.P519S		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	519						integral to membrane		p.P519S(1)		NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTACTTTGTCCCCTTGGTCAC	0.328000													7	73					0	0	0.000157383	0	0
TECTA	7007	broad.mit.edu	37	11	120984327	120984327	+	Silent	SNP	C	C	T	rs34605023	byFrequency	TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:120984327C>T	ENST00000392793.1	+	6	961	c.690C>T	c.(688-690)atC>atT	p.I230I	TECTA_ENST00000264037.2_Silent_p.I230I			O75443	TECTA_HUMAN	tectorin alpha	230	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCCCCGAGATCGTGAATATCC	0.493000													25	49					0	0	0.00047179	0	0
AIFM3	150209	broad.mit.edu	37	22	21329027	21329027	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr22:21329027G>A	ENST00000399167.2	+	8	882	c.642G>A	c.(640-642)cgG>cgA	p.R214R	AIFM3_ENST00000335375.5_Silent_p.R202R|AIFM3_ENST00000405089.1_Silent_p.R220R|AIFM3_ENST00000399163.2_Silent_p.R214R|AIFM3_ENST00000333607.6_Silent_p.R214R|AIFM3_ENST00000440238.2_Silent_p.R214R|AIFM3_ENST00000465606.1_3'UTR	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGACACTGCGGCAGGAGGGCT	0.652000													24	46					0	0	0.000878237	0	0
SH2D7	646892	broad.mit.edu	37	15	78390328	78390328	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:78390328C>T	ENST00000328828.5	+	3	324	c.324C>T	c.(322-324)atC>atT	p.I108I	SH2D7_ENST00000409568.2_5'UTR	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	108	SH2.									endometrium(2)|kidney(2)|lung(3)	7						GGCGTTACATCATCTCAGGAG	0.572000													13	33					0	0	0.000308642	0	0
NF1	4763	broad.mit.edu	37	17	29587393	29587393	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:29587393C>T	ENST00000358273.4	+	34	4820	c.4437C>T	c.(4435-4437)ttC>ttT	p.F1479F	NF1_ENST00000356175.3_Silent_p.F1458F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1479					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)|p.L1480fs*1(2)	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)		GAAGGTTTTTCCTTGATATAG	0.343000			"""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)			15	98					0	0	0.000422831	0	0
PDE4C	5143	broad.mit.edu	37	19	18322736	18322736	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:18322736C>T	ENST00000355502.3	-	18	2495	c.1624G>A	c.(1624-1626)Gtg>Atg	p.V542M	PDE4C_ENST00000447275.2_Missense_Mutation_p.V436M|PDE4C_ENST00000594617.2_Missense_Mutation_p.V542M|PDE4C_ENST00000594465.2_Missense_Mutation_p.V542M|PDE4C_ENST00000262805.11_Missense_Mutation_p.V510M|PDE4C_ENST00000539010.1_Missense_Mutation_p.V311M|AC068499.10_ENST00000594805.2_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	542					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GCACAGTGCACCAGGTTCTGC	0.637000													6	28					0	0	0.00116845	0	0
COL9A1	1297	broad.mit.edu	37	6	70966489	70966489	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:70966489C>T	ENST00000357250.6	-	21	1643	c.1485G>A	c.(1483-1485)caG>caA	p.Q495Q	COL9A1_ENST00000320755.7_Silent_p.Q252Q|COL9A1_ENST00000370499.4_Silent_p.Q252Q|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	495	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CAGGAAGACCCTGAGGCCCAG	0.403000													11	46					0	0	0.000978159	0	0
CHI3L1	1116	broad.mit.edu	37	1	203150322	203150322	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:203150322C>T	ENST00000255409.3	-	7	804	c.679G>A	c.(679-681)Gag>Aag	p.E227K		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	227					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CTTGCATCCTCCTGACCTCGG	0.572000													28	90					0	0	0.00209593	0	0
MTMR2	8898	broad.mit.edu	37	11	95590721	95590721	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:95590721T>A	ENST00000393223.3	-	9	1095	c.433A>T	c.(433-435)Agg>Tgg	p.R145W	MTMR2_ENST00000409459.1_Missense_Mutation_p.R145W|MTMR2_ENST00000346299.5_Missense_Mutation_p.R217W|MTMR2_ENST00000352297.7_Missense_Mutation_p.R145W|MTMR2_ENST00000484818.1_5'UTR	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	217						nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CATACCTGCCTTCTATACTCT	0.343000													13	43					0	0	0.000566183	0	0
ACSM2A	123876	broad.mit.edu	37	16	20486756	20486756	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr16:20486756C>T	ENST00000573854.1	+	7	1081	c.967C>T	c.(967-969)Ctt>Ttt	p.L323F	ACSM2A_ENST00000536134.1_Missense_Mutation_p.L95F|ACSM2A_ENST00000575690.1_Missense_Mutation_p.L323F|ACSM2A_ENST00000417235.2_Missense_Mutation_p.L244F|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.L323F|ACSM2A_ENST00000219054.6_Missense_Mutation_p.L323F	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	323					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						ACAGCAGGATCTTTCCAGGTG	0.498000													30	89					0	0	0.000814825	0	0
PTAFR	5724	broad.mit.edu	37	1	28477362	28477362	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr1:28477362C>T	ENST00000373857.3	-	2	805	c.171G>A	c.(169-171)gtG>gtA	p.V57V	PTAFR_ENST00000305392.3_Silent_p.V57V|PTAFR_ENST00000539896.1_Silent_p.V57V	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	57					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTGAGGTTCACCATGAAGA	0.488000													14	38					0	0	0.00244969	0	0
RRP12	23223	broad.mit.edu	37	10	99148021	99148021	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:99148021G>A	ENST00000370992.4	-	8	1116	c.1005C>T	c.(1003-1005)acC>acT	p.T335T	RRP12_ENST00000315563.6_Silent_p.T235T|RRP12_ENST00000414986.1_Silent_p.T274T|RRP12_ENST00000536831.1_Intron	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	335						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CATGGCTCAAGGTCATGACCC	0.597000													18	45					0	0	0.000566183	0	0
FPR3	2359	broad.mit.edu	37	19	52327352	52327352	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:52327352C>T	ENST00000339223.4	+	2	530	c.351C>T	c.(349-351)acC>acT	p.T117T	FPR3_ENST00000595991.1_Silent_p.T117T	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	117					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						ACCTGATCACCATCATTGCTC	0.493000													21	59					0	0	0.00121646	0	0
OR51G1	79324	broad.mit.edu	37	11	4945077	4945077	+	Silent	SNP	G	G	A	rs143975651		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:4945077G>A	ENST00000321961.2	-	1	560	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	165					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)		AAGCGCTTCAGGAGGAATGGC	0.512000													16	32					0	0	0.000308642	0	0
TECPR2	9895	broad.mit.edu	37	14	102910032	102910032	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:102910032C>T	ENST00000359520.7	+	12	3027	c.2801C>T	c.(2800-2802)cCc>cTc	p.P934L	TECPR2_ENST00000558678.1_Missense_Mutation_p.P934L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	934							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GTGGACTGTCCCTACCCGCTG	0.612000													11	19					0	0	0.000978159	0	0
ZKSCAN4	387032	broad.mit.edu	37	6	28217542	28217542	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:28217542G>A	ENST00000377294.2	-	2	737	c.494C>T	c.(493-495)tCt>tTt	p.S165F	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.S10F	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	165					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GCTACTTTGAGACCCTTGAGT	0.483000													38	126					0	0	0.00148497	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7671263	7671263	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:7671263T>A	ENST00000446248.2	+	3	610	c.509T>A	c.(508-510)cTt>cAt	p.L170H	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.L170H	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	170	CH.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CACAAGCTGCTTTTCTGGGTG	0.627000													11	55					0	0	0.00136819	0	0
CCSER2	54462	broad.mit.edu	37	10	86237419	86237419	+	Splice_Site	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:86237419C>T	ENST00000224756.8	+	9	2509	c.2325_splice	c.e9+1	p.P775_splice	CCSER2_ENST00000494144.1_3'UTR|CCSER2_ENST00000372088.2_Splice_Site_p.P775_splice|CCSER2_ENST00000543283.1_Splice_Site_p.P202_splice	NM_018999.2	NP_061872.2			coiled-coil serine-rich protein 2																		AGACGAATTCCTGTAAGTAAC	0.358000													6	15					0	0	0.00116845	0	0
NELL1	4745	broad.mit.edu	37	11	20949958	20949958	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:20949958C>T	ENST00000298925.5	+	10	1167	c.1014C>T	c.(1012-1014)ccC>ccT	p.P338P	NELL1_ENST00000532434.1_Silent_p.P310P|NELL1_ENST00000325319.5_Silent_p.P253P|NELL1_ENST00000357134.5_Silent_p.P310P			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	310	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TGTCCTGTCCCCCTCTCAATT	0.532000													12	52					0	0	0.00244969	0	0
SLC8A3	6547	broad.mit.edu	37	14	70527578	70527578	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:70527578C>T	ENST00000381269.2	-	3	2616	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	SLC8A3_ENST00000357887.3_Intron|SLC8A3_ENST00000533899.1_5'UTR|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000534137.1_Silent_p.P621P|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000216568.7_5'UTR|SLC8A3_ENST00000528359.1_Intron|SLC8A3_ENST00000356921.2_Silent_p.P621P	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	621					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CCATCCATTTCGGTTCACCAA	0.343000													18	70					0	0	0.00152264	0	0
DCDC2	51473	broad.mit.edu	37	6	24178596	24178596	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr6:24178596C>T	ENST00000378454.3	-	9	1589	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K	DCDC2_ENST00000378450.3_Missense_Mutation_p.E183K	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	430					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTTCTTTCCTTGTCTAGG	0.478000													76	186					0	0	0.000781405	0	0
EGFLAM	133584	broad.mit.edu	37	5	38431313	38431313	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr5:38431313G>A	ENST00000322350.5	+	15	2435	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K	EGFLAM_ENST00000397202.2_Missense_Mutation_p.E63K|EGFLAM_ENST00000336740.6_Missense_Mutation_p.E463K|EGFLAM_ENST00000354891.3_Missense_Mutation_p.E697K	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	697	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CAACTGGCACGAGCTTCGTGT	0.448000													16	48					0	0	0.00074312	0	0
CYP2C19	1557	broad.mit.edu	37	10	96534972	96534972	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:96534972G>A	ENST00000371321.3	+	2	408	c.326G>A	c.(325-327)gGa>gAa	p.G109E	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	109					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GCTAACAGAGGATTTGGTAGG	0.517000													21	89					0	0	0.00152264	0	0
BCL11B	64919	broad.mit.edu	37	14	99723868	99723868	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:99723868C>T	ENST00000345514.2	-	2	633	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000357195.3_Missense_Mutation_p.E123K	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	517						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGGTCATCTTCGTCGGGGGTG	0.607000			T	TLX3	T-ALL								7	118					0	0	0.00198382	0	0
FBXL5	26234	broad.mit.edu	37	4	15614012	15614012	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:15614012G>A	ENST00000341285.3	-	10	2000	c.1876C>T	c.(1876-1878)Cct>Tct	p.P626S	FBXL5_ENST00000382358.4_Missense_Mutation_p.P500S|FBXL5_ENST00000412094.2_Missense_Mutation_p.P609S	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	626					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						TCCAAATAAGGCAGCCCTCCT	0.388000													16	39					0	0	0.000422831	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972687	92972687	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:92972687C>T	ENST00000523629.1	-	12	2052	c.1598G>A	c.(1597-1599)cGa>cAa	p.R533Q	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R496Q|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R544Q|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R506Q|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R496Q|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R533Q|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R506Q|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R496Q	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	533					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCCACAGTATCGGGCTGTGTT	0.522000													15	60					0	0	0.000308642	0	0
APEX1	328	broad.mit.edu	37	14	20923850	20923850	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:20923850G>A	ENST00000216714.3	+	2	314	c.46G>A	c.(46-48)Gag>Aag	p.E16K	APEX1_ENST00000398030.4_Missense_Mutation_p.E16K|APEX1_ENST00000557365.1_Intron|APEX1_ENST00000555414.1_Missense_Mutation_p.E16K|APEX1_ENST00000557054.1_Intron	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	16	Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli.				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	AGACGGGGATGAGCTCAGGAC	0.572000								Other BER factors					19	61					0	0	0.00152264	0	0
CENPE	1062	broad.mit.edu	37	4	104070357	104070357	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:104070357C>T	ENST00000265148.3	-	27	3694	c.3605G>A	c.(3604-3606)aGa>aAa	p.R1202K	CENPE_ENST00000380026.3_Missense_Mutation_p.R1177K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1202					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TAGAACTTTTCTTTCTTTGGT	0.333000													24	81					0	0	0.00229938	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564305	46564305	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr11:46564305C>T	ENST00000458649.2	-	7	1680	c.1262G>A	c.(1261-1263)cGg>cAg	p.R421Q	AMBRA1_ENST00000528950.1_Missense_Mutation_p.R421Q|AMBRA1_ENST00000533727.1_Missense_Mutation_p.R331Q|AMBRA1_ENST00000314845.3_Missense_Mutation_p.R331Q|AMBRA1_ENST00000298834.3_Missense_Mutation_p.R421Q|AMBRA1_ENST00000534300.1_Missense_Mutation_p.R421Q|AMBRA1_ENST00000426438.1_Missense_Mutation_p.R421Q			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	421					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GAGTACTGTCCGGGTCCACTC	0.592000													29	74					0	0	0.00106085	0	0
RHPN1	114822	broad.mit.edu	37	8	144463809	144463809	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr8:144463809G>T	ENST00000289013.6	+	13	1657	c.1556G>T	c.(1555-1557)gGa>gTa	p.G519V		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	544					signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CTGACCCGAGGAGAGGGCGGC	0.711000													6	34					8.12818e-05	0.000400267	0.00198382	1	0
PPBP	5473	broad.mit.edu	37	4	74853797	74853797	+	Silent	SNP	G	G	A			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr4:74853797G>A	ENST00000296028.3	-	1	117	c.24C>T	c.(22-24)acC>acT	p.T8T		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	8					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TACAGGAAGGGGTGGTATCAA	0.522000													36	103					0	0	0.00111076	0	0
SCG2	7857	broad.mit.edu	37	2	224462908	224462908	+	Silent	SNP	A	A	G			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr2:224462908A>G	ENST00000305409.2	-	2	1325	c.1093T>C	c.(1093-1095)Tta>Cta	p.L365L		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	365					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATCTCAATTAAGTCTTCTGGG	0.468000													17	70					0	0	0.000422831	0	0
EFCAB12	90288	broad.mit.edu	37	3	129140317	129140317	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:129140317C>T	ENST00000505956.1	-	2	541	c.379G>A	c.(379-381)Gag>Aag	p.E127K	EFCAB12_ENST00000326085.3_Missense_Mutation_p.E127K	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		GGCTTGTTCTCCAGCCACCTC	0.567000													23	60					0	0	0.00188189	0	0
MAP1A	4130	broad.mit.edu	37	15	43816125	43816125	+	Silent	SNP	C	C	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:43816125C>T	ENST00000382031.1	+	5	3199	c.3168C>T	c.(3166-3168)gcC>gcT	p.A1056A	MAP1A_ENST00000399453.1_Silent_p.A818A|MAP1A_ENST00000300231.5_Silent_p.A818A			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	818						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TAGTGGCTGCCCCTTTGGCTG	0.522000													16	34					0	0	0.000566183	0	0
TOPBP1	11073	broad.mit.edu	37	3	133374154	133374154	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:133374154delA	ENST00000260810.5	-	6	853	c.722delT	c.(721-723)ccfs	p.L241fs	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	241	BRCT 2.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTGCACAATGAGGTGTGTACA	0.318								Other conserved DNA damage response genes					23	129	---	---	---	---					
LOC101243545	101243545	broad.mit.edu	37	3	161146872	161146873	+	RNA	DEL	AT	AT	-			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr3:161146872_161146873delAT	ENST00000473595.1	+	0	1231					NR_102265.1																						TGGTGAAAAGATATATATATAT	0.342													3	3	---	---	---	---					
RAB11FIP2	22841	broad.mit.edu	37	10	119798647	119798647	+	Frame_Shift_Del	DEL	T	T	-	rs35192242		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr10:119798647delT	ENST00000355624.3	-	3	1540	c.1101delA	c.(1099-1101)aafs	p.K367fs	RAB11FIP2_ENST00000369199.3_Frame_Shift_Del_p.K367fs|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	367					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TTCTGCTATCTTTTTTTCCAG	0.343													33	158	---	---	---	---					
BCL11B	64919	broad.mit.edu	37	14	99641544	99641546	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr14:99641544_99641546delCTC	ENST00000345514.2	-	3	1680_1682	c.1414_1416delGAG	c.(1414-1416)del	p.E472del	BCL11B_ENST00000443726.2_In_Frame_Del_p.E349del|BCL11B_ENST00000357195.3_In_Frame_Del_p.E543del	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	543						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCAGTAGCAGctcctcctcctcc	0.700			T	TLX3	T-ALL								3	5	---	---	---	---					
ULK4P3	89837	broad.mit.edu	37	15	30406088	30406089	+	RNA	INS	-	-	T			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr15:30406088_30406089insT	ENST00000568486.1	+	0	402					NR_026859.1																						TGCCTCAAAAGTTTTTTTTTTT	0.297													7	24	---	---	---	---					
ZNF624	57547	broad.mit.edu	37	17	16553035	16553037	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr17:16553035_16553037delAAG	ENST00000311331.7	-	2	113_115	c.22_24delCTT	c.(22-24)del	p.L8del		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTCTCTGGAAAGAGTGGAGTCT	0.458													14	62	---	---	---	---					
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	-	GGC	rs71338073		TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr18:77623691_77623692insGGC	ENST00000316249.3	+	1	24_25	c.24_25insGGC	c.(22-27)ccgcgg>ccGGCgcgg	p.8_9PR>PAR		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	8					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772													4	3	---	---	---	---					
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-GN-A263-01A-11D-A196-08	TCGA-GN-A263-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a886914-c217-4c50-87af-f70ce876d4e3	02ba77cc-a07c-4739-a629-920630ae8dcf	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cgg>cg	p.RK211del	ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	211					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581													7	147	---	---	---	---