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
IGFBP2	3485	broad.mit.edu	37	2	217528728	217528728	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:217528728G>A	ENST00000233809.4	+	4	1008	c.879G>A	c.(877-879)ctG>ctA	p.L293L	IGFBP2_ENST00000456764.1_Silent_p.L149L	NM_000597.2	NP_000588.2	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	293	Thyroglobulin type-1.				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CCGGGAAGCTGATCCAGGGAG	0.632000													6	20					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46849830	46849830	+	Silent	SNP	G	G	A	rs140241968	byFrequency	TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:46849830G>A	ENST00000283296.7	-	7	915	c.627C>T	c.(625-627)taC>taT	p.Y209Y	GPR116_ENST00000456426.2_Silent_p.Y209Y|GPR116_ENST00000362015.4_Silent_p.Y209Y|GPR116_ENST00000265417.7_Silent_p.Y209Y	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	209	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GTAAAATTCCGTAACCCTTCC	0.368000													11	196					0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196746673	196746673	+	Splice_Site	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:196746673C>T	ENST00000296351.4	-	7	801		c.e7-1		MFI2_ENST00000296350.5_Intron	NM_033316.3	NP_201573.1	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5						cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GATGGACTTTCTGATTTAAAA	0.463000													4	41					0	0	1	0	0
RABEPK	10244	broad.mit.edu	37	9	127996097	127996097	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:127996097G>A	ENST00000373538.3	+	8	1267	c.957G>A	c.(955-957)ctG>ctA	p.L319L	RABEPK_ENST00000259460.8_Silent_p.L268L|RABEPK_ENST00000394125.4_Silent_p.L319L|RABEPK_ENST00000394124.4_3'UTR	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	319					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						CTCTCACTCTGAACCATGAAG	0.473000													8	117					0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105440679	105440679	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:105440679G>A	ENST00000258494.9	-	14	1895	c.1755C>T	c.(1753-1755)ctC>ctT	p.L585L	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	585	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TATCTTACCCGAGTGGCTCTT	0.413000													36	141					0	0	1	0	0
MED29	55588	broad.mit.edu	37	19	39884203	39884203	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:39884203G>T	ENST00000315588.5	+	3	398	c.349G>T	c.(349-351)Gat>Tat	p.D117Y	MED29_ENST00000599213.2_Missense_Mutation_p.D96Y|MED29_ENST00000594368.1_Missense_Mutation_p.D96Y	NM_017592.1	NP_060062.1	Q9NX70	MED29_HUMAN	mediator complex subunit 29	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AAAGAGCAGTGATGGACCCAT	0.478000													33	164					2.20262e-25	2.32016e-25	1	1	0
ECT2L	345930	broad.mit.edu	37	6	139206877	139206877	+	Silent	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:139206877C>G	ENST00000423192.1	+	17	2330	c.2169C>G	c.(2167-2169)gtC>gtG	p.V723V	ECT2L_ENST00000541398.1_Intron|ECT2L_ENST00000367682.2_Silent_p.V723V			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	723	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TCTACGCTGTCAGGCTTCATA	0.468000			"""N, Splice, Mis"""		ETP ALL								9	36					0	0	1	0	0
YY1AP1	55249	broad.mit.edu	37	1	155630584	155630584	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:155630584C>T	ENST00000368340.5	-	10	1579	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	YY1AP1_ENST00000405763.3_3'UTR|YY1AP1_ENST00000359205.5_Missense_Mutation_p.E362K|YY1AP1_ENST00000535662.1_Missense_Mutation_p.E219K|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000407221.1_Missense_Mutation_p.E342K|YY1AP1_ENST00000368330.2_Missense_Mutation_p.E373K|YY1AP1_ENST00000347088.5_Missense_Mutation_p.E373K|YY1AP1_ENST00000368339.5_Missense_Mutation_p.E511K|YY1AP1_ENST00000361831.5_Missense_Mutation_p.E362K|YY1AP1_ENST00000404643.1_Missense_Mutation_p.E353K|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000355499.4_Missense_Mutation_p.E373K|YY1AP1_ENST00000311573.5_Missense_Mutation_p.E342K|YY1AP1_ENST00000295566.4_Missense_Mutation_p.E419K	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CTCCCCAACTCTGAGTTGTCT	0.502000													15	70					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415983	105415983	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:105415983C>T	ENST00000333244.5	-	7	5924	c.5805G>A	c.(5803-5805)ctG>ctA	p.L1935L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1935						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGGCCTTTCAGGTCCAGCT	0.597000													70	268					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160099964	160099964	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:160099964C>T	ENST00000361216.3	+	12	1623	c.1534C>T	c.(1534-1536)Ctg>Ttg	p.L512L	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.L512L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	512					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGAGCGCATTCTGGACCGGTG	0.582000													25	82					0	0	1	0	0
PSMD11	5717	broad.mit.edu	37	17	30806361	30806361	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:30806361G>A	ENST00000261712.3	+	10	1268	c.1005G>A	c.(1003-1005)ctG>ctA	p.L335L	PSMD11_ENST00000457654.2_Silent_p.L335L	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	335	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			AACAGAATCTGATCCGAGTCA	0.512000													7	126					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	172096115	172096115	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:172096115G>A	ENST00000336824.4	+	24	3163	c.3064G>A	c.(3064-3066)Gaa>Aaa	p.E1022K	FNDC3B_ENST00000416957.1_Missense_Mutation_p.E1022K|FNDC3B_ENST00000415807.2_Missense_Mutation_p.E1022K	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1022	Fibronectin type-III 8.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GAGACTGACGGAATTCACATG	0.488000													8	55					0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583287	145583287	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:145583287G>A	ENST00000532887.1	+	3	718	c.135G>A	c.(133-135)tgG>tgA	p.W45*	SLC52A2_ENST00000540505.1_5'UTR|SLC52A2_ENST00000530047.1_Nonsense_Mutation_p.W45*|SLC52A2_ENST00000527078.1_Nonsense_Mutation_p.W45*|SLC52A2_ENST00000526891.1_3'UTR|SLC52A2_ENST00000402965.1_Nonsense_Mutation_p.W45*|SLC52A2_ENST00000329994.2_Nonsense_Mutation_p.W45*|SLC52A2_ENST00000526752.1_Intron			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	45						integral to plasma membrane	receptor activity|riboflavin transporter activity										CTGCAGGTTGGAGCCTCCCCT	0.632000													65	155					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27308602	27308602	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:27308602T>A	ENST00000317338.12	-	2	939	c.511A>T	c.(511-513)Ata>Tta	p.I171L	SEZ6_ENST00000335960.6_Missense_Mutation_p.I171L|SEZ6_ENST00000442608.3_Missense_Mutation_p.I171L|SEZ6_ENST00000360295.9_Missense_Mutation_p.I171L|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	171	Pro-rich.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GTGCTGGCTATCTCCCCTGGG	0.647000													4	17					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101295441	101295441	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:101295441C>T	ENST00000538618.1	+	4	376	c.376C>T	c.(376-378)Cat>Tat	p.H126Y	ANO4_ENST00000551148.1_3'UTR|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000392979.3_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	0						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTTATCTATTCATGGGGCTGA	0.498000										HNSCC(74;0.22)			5	24					0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327788	52327788	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:52327788C>G	ENST00000339223.4	+	2	966	c.787C>G	c.(787-789)Cta>Gta	p.L263V	FPR3_ENST00000595991.1_Missense_Mutation_p.L263V	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	263					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						AATTGGCATTCTAATGGCAGT	0.423000													16	67					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214820348	214820348	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:214820348G>A	ENST00000366955.3	+	13	7603	c.7435G>A	c.(7435-7437)Gaa>Aaa	p.E2479K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2575	2 X 177 AA tandem repeats.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAGTGTCTTGAACTTGAGAA	0.408000													17	91					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272425	158272425	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:158272425C>T	ENST00000264192.3	-	8	965	c.844G>A	c.(844-846)Gat>Aat	p.D282N	CYTIP_ENST00000540637.1_Missense_Mutation_p.D176N	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	282	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						AAGCACTCATCATCTGTACTC	0.547000													11	48					0	0	1	0	0
MIR520D	574482	broad.mit.edu	37	19	54223353	54223353	+	RNA	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:54223353C>T	ENST00000385002.1	+	0	4					NR_030204.1																						AAGAAGATCTCAAGCTGTGAG	0.408000													27	164					0	0	1	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27835242	27835242	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:27835242C>T	ENST00000331442.3	-	1	117	c.66G>A	c.(64-66)aaG>aaA	p.K22K		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	22					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TAGTTGCCTTCTTCTTAGCCG	0.602000													5	53					0	0	1	0	0
GLE1	2733	broad.mit.edu	37	9	131285011	131285011	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:131285011C>T	ENST00000309971.4	+	4	603	c.497C>T	c.(496-498)tCt>tTt	p.S166F	GLE1_ENST00000539582.1_Intron|GLE1_ENST00000372770.4_Missense_Mutation_p.S166F	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	166					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						GAGATGGCATCTGAACAACTG	0.453000													7	73					0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97370084	97370084	+	RNA	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:97370084C>G	ENST00000457909.1	+	0	5437							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TGTTTAACTTCATCTATTCAG	0.478000													8	166					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126226625	126226625	+	Missense_Mutation	SNP	G	G	A	rs34488036	byFrequency	TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:126226625G>A	ENST00000290868.2	-	6	615	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	UROC1_ENST00000383579.3_Missense_Mutation_p.R188W	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	188			R -> W (in dbSNP:rs34488036).		histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TACTCCGTCCGGGAGGAGTAG	0.542000													21	107					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76022561	76022561	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:76022561C>T	ENST00000393004.2	-	5	3208	c.2987G>A	c.(2986-2988)aGa>aAa	p.R996K	FILIP1_ENST00000370020.1_Missense_Mutation_p.R897K|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.R996K			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	996										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AAATGCGCCTCTTCCACTTTC	0.478000													26	72					0	0	1	0	0
TRPV1	7442	broad.mit.edu	37	17	3474881	3474881	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:3474881C>T	ENST00000174621.6	-	14	2567	c.2278G>A	c.(2278-2280)Gaa>Aaa	p.E760K	TRPV1_ENST00000399759.3_Missense_Mutation_p.E762K|TRPV1_ENST00000310522.5_Missense_Mutation_p.E702K|TRPV1_ENST00000576351.1_Missense_Mutation_p.E752K|TRPV1_ENST00000571088.1_Missense_Mutation_p.E762K|TRPV1_ENST00000399756.4_Missense_Mutation_p.E762K|TRPV1_ENST00000425167.2_Missense_Mutation_p.E773K|SHPK_ENST00000572705.1_Missense_Mutation_p.E762K			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	762					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CCCGGGTCTTCGTTGATGATG	0.647000													3	19					0	0	1	0	0
GTF2F2	2963	broad.mit.edu	37	13	45710916	45710916	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr13:45710916G>A	ENST00000340473.6	+	2	256	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K		NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa	39					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		TGGAAGAGGTGAAGTTGGGAA	0.303000													5	39					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44429943	44429943	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:44429943C>T	ENST00000372343.3	+	15	3009	c.2347C>T	c.(2347-2349)Ccc>Tcc	p.P783S		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	783					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TATTTTAGGGCCCAGGGATCA	0.388000													7	52					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167039993	167039993	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:167039993G>A	ENST00000392766.2	-	12	1235	c.895C>T	c.(895-897)Ctg>Ttg	p.L299L	ZBBX_ENST00000392764.1_Silent_p.L270L|ZBBX_ENST00000307529.5_Silent_p.L299L|ZBBX_ENST00000392767.2_Silent_p.L299L|ZBBX_ENST00000455345.2_Silent_p.L299L|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	299						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CAAATTTTCAGATTAGTCTGT	0.284000													6	40					0	0	1	0	0
B2M	567	broad.mit.edu	37	15	45003747	45003747	+	Translation_Start_Site	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr15:45003747G>A	ENST00000558401.1	+	1	73	c.3G>A	c.(1-3)atG>atA	p.M1I	B2M_ENST00000544417.1_Start_Codon_SNP_p.M1I|B2M_ENST00000559916.1_Start_Codon_SNP_p.M1I	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	1					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.M1I(1)|p.?(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GGGCCGAGATGTCTCGCTCCG	0.612000													24	23					0	0	1	0	0
TASP1	55617	broad.mit.edu	37	20	13610608	13610608	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr20:13610608G>C	ENST00000337743.4	-	2	238	c.118C>G	c.(118-120)Cga>Gga	p.R40G	TASP1_ENST00000539805.1_Missense_Mutation_p.R40G|TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000544472.1_Missense_Mutation_p.R40G	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	40					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						AAGCCTCCTCGTTTCTCTTTA	0.438000													6	141					0	0	1	0	0
MESDC1	59274	broad.mit.edu	37	15	81294798	81294798	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr15:81294798C>T	ENST00000267984.2	+	1	1504	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	62										endometrium(1)|lung(2)	3						CCGTGCTCTTCGAGGGCCCCG	0.687000													4	16					0	0	1	0	0
CD200R1L	344807	broad.mit.edu	37	3	112546358	112546358	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:112546358C>T	ENST00000488794.1	-	5	812	c.223G>A	c.(223-225)Gag>Aag	p.E75K	CD200R1L_ENST00000398214.1_Missense_Mutation_p.E96K|CD200R1L_ENST00000448932.1_Missense_Mutation_p.E75K			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	96	Ig-like V-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						GTTATTCTCTCAACAGTACAG	0.453000													20	74					0	0	1	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15119601	15119601	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:15119601C>G	ENST00000253699.3	-	11	1592	c.979G>C	c.(979-981)Gag>Cag	p.E327Q	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.E327Q	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	327	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TCTATCAGCTCATACACTTTC	0.488000													4	45					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90402573	90402573	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:90402573G>A	ENST00000369393.3	-	63	10291	c.10176C>T	c.(10174-10176)ttC>ttT	p.F3392F	MDN1_ENST00000428876.1_Silent_p.F3392F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3392					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CATCTGGATAGAAGGTGTACT	0.572000													4	68					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182360613	182360613	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:182360613G>C	ENST00000397033.2	+	14	1919	c.1489G>C	c.(1489-1491)Gat>Cat	p.D497H		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	497					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGTGTGCATAGATCTAACACT	0.408000													10	100					0	0	1	0	0
TMEM200C	645369	broad.mit.edu	37	18	5890549	5890549	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr18:5890549G>T	ENST00000581347.1	-	3	2159	c.1514C>A	c.(1513-1515)tCc>tAc	p.S505Y	TMEM200C_ENST00000383490.2_Missense_Mutation_p.S505Y|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	505	Pro-rich.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TGGCGAGGGGGAGGCGGCCTT	0.751000													4	7					0.00024832	0.000254486	1	1	0
ZNF461	92283	broad.mit.edu	37	19	37129831	37129831	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:37129831C>T	ENST00000588268.1	-	6	1643	c.1416G>A	c.(1414-1416)atG>atA	p.M472I	ZNF461_ENST00000360357.4_Missense_Mutation_p.M449I|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TACCACATATCATGCATTCAT	0.398000													16	32					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161022029	161022029	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:161022029C>A	ENST00000447678.1	-	20	3167	c.3047G>T	c.(3046-3048)cGa>cTa	p.R1016L	LPA_ENST00000316300.5_Missense_Mutation_p.R1016L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3524	Kringle 9.				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)	ATCTGAGCATCGTGTCAGGTT	0.498000													13	65					7.03913e-09	7.38052e-09	1	1	0
ANKRD13C	81573	broad.mit.edu	37	1	70761926	70761926	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:70761926C>G	ENST00000370944.4	-	8	1253	c.940G>C	c.(940-942)Gaa>Caa	p.E314Q	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.E279Q	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	314					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						ACCTCTTCTTCTGTTTCCATC	0.333000													19	57					0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95542459	95542459	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:95542459G>A	ENST00000295201.4	+	6	1390	c.1253G>A	c.(1252-1254)tGc>tAc	p.C418Y	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	418					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.C418Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CGCCAGAAGTGCATGGCCCAT	0.612000													3	38					0	0	1	0	0
WBP11	51729	broad.mit.edu	37	12	14946797	14946797	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:14946797C>T	ENST00000261167.2	-	8	1014	c.781G>A	c.(781-783)Gac>Aac	p.D261N	WBP11_ENST00000537574.1_Missense_Mutation_p.D261N	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	261	Asp-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						TGATCCATGTCCTCAGGATAG	0.458000													7	130					0	0	1	0	0
COPZ2	51226	broad.mit.edu	37	17	46103842	46103842	+	Splice_Site	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:46103842C>T	ENST00000006101.4	-	10	579		c.e10-1		COPZ2_ENST00000584666.1_Splice_Site	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2						intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat				lung(3)|upper_aerodigestive_tract(1)	4						ACTGAAGAACCTGGGGTGGGG	0.537000											OREG0024510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	27					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189068221	189068221	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:189068221C>T	ENST00000332517.3	+	6	1242	c.1102C>T	c.(1102-1104)Ctc>Ttc	p.L368F	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	368	B30.2/SPRY.				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)		AAAGGGGAATCTCCCCAAGCC	0.527000													11	74					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160869837	160869837	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:160869837C>T	ENST00000283243.7	-	10	1807	c.1601G>A	c.(1600-1602)cGa>cAa	p.R534Q	PLA2R1_ENST00000392771.1_Missense_Mutation_p.R534Q	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	534	C-type lectin 3.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTCAAAGCTTCGAAGGACTGT	0.363000													10	49					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			3	40					0	0	1	0	0
FAM118A	55007	broad.mit.edu	37	22	45728555	45728555	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr22:45728555G>A	ENST00000216214.3	+	7	1735	c.901G>A	c.(901-903)Gac>Aac	p.D301N	FAM118A_ENST00000441876.2_Missense_Mutation_p.D301N|FAM118A_ENST00000405548.3_Missense_Mutation_p.D119N	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	301						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATATGTGCAAGACCTTGCCAC	0.418000													4	120					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189875513	189875513	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:189875513G>C	ENST00000304636.3	+	50	4321	c.4151G>C	c.(4150-4152)gGa>gCa	p.G1384A	COL3A1_ENST00000317840.5_Missense_Mutation_p.G1081A	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1384	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CAGGCCAGTGGAAATGTAAAG	0.463000													5	70					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74154938	74154938	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr18:74154938C>T	ENST00000443185.2	-	3	390	c.73G>A	c.(73-75)Gag>Aag	p.E25K	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCATCCACCTCGTGGCCCCGG	0.687000													5	12					0	0	1	0	0
PRL	5617	broad.mit.edu	37	6	22287741	22287741	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:22287741G>A	ENST00000306482.1	-	5	1092	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	192					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					GCAGAAAGGCGAGACTCTTCA	0.443000													20	73					0	0	1	0	0
ABCF1	23	broad.mit.edu	37	6	30553423	30553423	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:30553423G>A	ENST00000326195.8	+	16	1676	c.1564G>A	c.(1564-1566)Gat>Aat	p.D522N	ABCF1_ENST00000376545.3_Missense_Mutation_p.D484N|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	522	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CATCCACCTCGATGCCCAGCG	0.532000													6	71					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9376208	9376208	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr20:9376208G>A	ENST00000378501.2	+	16	1468	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	PLCB4_ENST00000414679.2_Missense_Mutation_p.E485K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E485K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.E485K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E485K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E485K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	485					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGAAGCTGGAGAATCTGCCTC	0.423000													18	48					0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38271726	38271726	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:38271726G>C	ENST00000341462.5	-	16	3071	c.2130C>G	c.(2128-2130)ttC>ttG	p.F710L	FGFR1_ENST00000397103.1_Missense_Mutation_p.F621L|FGFR1_ENST00000447712.2_Missense_Mutation_p.F710L|FGFR1_ENST00000326324.6_Missense_Mutation_p.F619L|FGFR1_ENST00000397108.4_Missense_Mutation_p.F708L|FGFR1_ENST00000532791.1_Missense_Mutation_p.F708L|FGFR1_ENST00000425967.3_Missense_Mutation_p.F741L|FGFR1_ENST00000356207.5_Missense_Mutation_p.F621L|FGFR1_ENST00000335922.5_Missense_Mutation_p.F700L|FGFR1_ENST00000397091.5_Missense_Mutation_p.F708L|FGFR1_ENST00000397113.2_Missense_Mutation_p.F708L			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	710	Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TCAGCAGCTTGAAAAGTTCCT	0.617000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						10	60					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3640008	3640008	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr16:3640008C>T	ENST00000294008.3	-	12	4271	c.3631G>A	c.(3631-3633)Gaa>Aaa	p.E1211K		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1211	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	p.E1211K(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGCACAGCTTCGCTTCTTGGT	0.557000								Direct reversal of damage					8	113					0	0	1	0	0
SLC16A13	201232	broad.mit.edu	37	17	6940071	6940071	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:6940071G>A	ENST00000308027.6	+	2	533	c.225G>A	c.(223-225)acG>acA	p.T75T		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	75						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CCCTGAGCACGAAGTTCGGGC	0.642000													18	139					0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128709136	128709136	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chrX:128709136G>A	ENST00000371113.4	+	16	1787	c.1622G>A	c.(1621-1623)cGa>cAa	p.R541Q	OCRL_ENST00000357121.5_Missense_Mutation_p.R541Q	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	541					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GTGGATGAACGAAGGTACCGG	0.408000													15	28					0	0	1	0	0
GMDS	2762	broad.mit.edu	37	6	1742796	1742796	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:1742796C>T	ENST00000380815.4	-	8	1065	c.796G>A	c.(796-798)Gat>Aat	p.D266N	GMDS_ENST00000530927.1_Missense_Mutation_p.D236N	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	266					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TCCGGCTCATCATTCTGCAAC	0.448000													20	60					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179399560	179399560	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:179399560G>A	ENST00000589042.1	-	358	102006	c.101782C>T	c.(101782-101784)Cag>Tag	p.Q33928*	TTN_ENST00000342992.6_Nonsense_Mutation_p.Q31360*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q24988*|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q32287*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q25055*|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q24863*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32287							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)			TGTAAAAACTGAAGTGCTTCA	0.333000													9	57					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204433259	204433259	+	Splice_Site	SNP	A	A	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:204433259A>G	ENST00000367187.3	-	6	1747	c.1189_splice	c.e6-1	p.C397_splice	PIK3C2B_ENST00000424712.2_Splice_Site_p.C397_splice	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	397					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)			CAGTGGAGGAACCTGTGAAGG	0.532000													6	114					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6078430	6078430	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:6078430G>A	ENST00000261405.5	-	45	7930	c.7676C>T	c.(7675-7677)tCg>tTg	p.S2559L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2559					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.S2559L(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGAAAGCCCGAGGGGCAGAC	0.592000													4	50					0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65827341	65827341	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr11:65827341C>G	ENST00000528302.1	+	12	1493	c.1439C>G	c.(1438-1440)tCt>tGt	p.S480C	SF3B2_ENST00000322535.6_Missense_Mutation_p.S497C			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	497					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						ACTCGGAACTCTGTGCCTGTG	0.577000													4	50					0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	110259223	110259223	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:110259223C>A	ENST00000309415.6	+	10	2624	c.2624C>A	c.(2623-2625)cCg>cAg	p.P875Q		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	875	SH3 4.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GGCCTCTTCCCGGGCAGCTTC	0.637000													4	7					0.000602214	0.000615778	1	1	0
NCAN	1463	broad.mit.edu	37	19	19337498	19337498	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:19337498C>T	ENST00000252575.5	+	7	1319	c.1276C>T	c.(1276-1278)Caa>Taa	p.Q426*		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	426					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)			GCAGGAGTCTCAACAGACCCT	0.622000													5	16					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49958170	49958170	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chrX:49958170C>T	ENST00000376056.2	-	5	1317	c.1167G>A	c.(1165-1167)atG>atA	p.M389I	AKAP4_ENST00000358526.2_Missense_Mutation_p.M398I|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Missense_Mutation_p.M389I|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	398					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	p.M398I(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTGAGTCAGTCATCAGGACCC	0.458000													4	33					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72409154	72409154	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr7:72409154C>T	ENST00000395270.1	+	9	1547	c.506C>T	c.(505-507)tCa>tTa	p.S169L	POM121_ENST00000434423.2_Missense_Mutation_p.S434L|POM121_ENST00000358357.3_Missense_Mutation_p.S169L|POM121_ENST00000446813.1_Missense_Mutation_p.S169L|POM121_ENST00000257622.4_Missense_Mutation_p.S169L	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	434	Pore side (Potential).|Pro-rich.|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GGCCCCAGTTCATCACCCTTC	0.493000													23	139					0	0	1	0	0
ATP5O	539	broad.mit.edu	37	21	35284600	35284600	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr21:35284600C>G	ENST00000290299.2	-	3	407	c.191G>C	c.(190-192)aGa>aCa	p.R64T	AP000304.12_ENST00000429238.1_Missense_Mutation_p.E12D	NM_001697.2	NP_001688.1			ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit											large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	5						TACTGCTACTCTCAACAACTC	0.388000													6	37					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37356644	37356644	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:37356644C>T	ENST00000373091.3	-	2	185	c.169G>A	c.(169-171)Gag>Aag	p.E57K	GRIK3_ENST00000373093.4_Missense_Mutation_p.E57K	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	57					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)	AAGGCATGCTCCTCGGCATTC	0.507000													10	204					0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83290108	83290108	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:83290108C>T	ENST00000549919.1	+	4	2953	c.1148C>T	c.(1147-1149)tCt>tTt	p.S383F	TMTC2_ENST00000321196.3_Missense_Mutation_p.S389F|TMTC2_ENST00000548305.1_Missense_Mutation_p.S389F			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	389						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CAGCTTCCTTCTACGGAGAAC	0.413000													46	129					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41149487	41149487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:41149487G>A	ENST00000263413.3	-	17	2743	c.2479C>T	c.(2479-2481)Cag>Tag	p.Q827*	C6_ENST00000337836.5_Nonsense_Mutation_p.Q827*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	827	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGGAGTTGCTGATTATTTAAA	0.418000													36	158					0	0	1	0	0
PATZ1	23598	broad.mit.edu	37	22	31731697	31731697	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr22:31731697G>A	ENST00000266269.5	-	3	2117	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F	PATZ1_ENST00000351933.4_Silent_p.F496F|RP3-400N23.6_ENST00000451161.1_RNA|RP3-400N23.6_ENST00000440456.1_RNA|PATZ1_ENST00000405309.3_Silent_p.F496F	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	496					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						AGATACTGCAGAAGTTGCTGG	0.567000													12	79					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170096085	170096085	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:170096085C>T	ENST00000263816.3	-	26	4531	c.4246G>A	c.(4246-4248)Gat>Aat	p.D1416N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1416	EGF-like 6; calcium-binding (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TAGCCTGTATCACACGAGCAC	0.428000													5	71					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66102461	66102461	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:66102461G>C	ENST00000349533.6	+	20	3446	c.3261G>C	c.(3259-3261)aaG>aaC	p.K1087N	LEPR_ENST00000406510.3_Missense_Mutation_p.K154N	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1087					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CAATCAAAAAGAGAGAGAGTG	0.418000													14	53					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1635706	1635706	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:1635706G>A	ENST00000409644.1	+	5	4245	c.4245G>A	c.(4243-4245)gaG>gaA	p.E1415E	WDR81_ENST00000446363.1_Silent_p.E54E|WDR81_ENST00000437219.2_Silent_p.E212E|WDR81_ENST00000309182.5_Silent_p.E364E|WDR81_ENST00000545662.1_Silent_p.E46E|WDR81_ENST00000419248.1_Silent_p.E188E|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	188										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TTGGACAGGAGATGGTCCAGC	0.602000													16	66					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153688925	153688925	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chrX:153688925G>A	ENST00000369682.3	+	2	577	c.402G>A	c.(400-402)ccG>ccA	p.P134P		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	134	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGGTGAGCCGCACCACCGCA	0.657000													3	55					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27157891	27157891	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:27157891G>A	ENST00000380036.4	+	2	557	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Missense_Mutation_p.E39K	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	39					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ATCTGATGCTGAAACATCTCT	0.478000													13	148					0	0	1	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789727	6789727	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr11:6789727C>T	ENST00000338569.2	-	1	559	c.462G>A	c.(460-462)ctG>ctA	p.L154L		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTATAGCAATCAGGGATGCCA	0.507000													11	34					0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	155037	155037	+	RNA	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:155037C>T	ENST00000510175.1	+	0	472							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		ACGCCTAACTCAACACAAAAG	0.338000													8	41					0	0	1	0	0
SLC4A9	83697	broad.mit.edu	37	5	139743692	139743692	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:139743692G>A	ENST00000230993.6	+	10	1415	c.1380G>A	c.(1378-1380)ctG>ctA	p.L460L	SLC4A9_ENST00000506545.1_Silent_p.L436L|SLC4A9_ENST00000507527.1_Silent_p.L460L|SLC4A9_ENST00000506757.2_Silent_p.L436L|SLC4A9_ENST00000432095.2_Silent_p.L425L	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	460	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCTGCCTGATGGCAGGCC	0.622000													6	14					0	0	1	0	0
CECR5	27440	broad.mit.edu	37	22	17619176	17619176	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr22:17619176C>T	ENST00000336737.4	-	8	1032	c.1007G>A	c.(1006-1008)gGg>gAg	p.G336E	CECR5_ENST00000399852.3_Missense_Mutation_p.G136E|CECR5_ENST00000155674.5_Missense_Mutation_p.G306E	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	336							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				TTCTGGCGCCCCATCATGCGT	0.602000													9	50					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32820175	32820175	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:32820175G>A	ENST00000421745.2	+	68	13710	c.13576G>A	c.(13576-13578)Gaa>Aaa	p.E4526K		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4526					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTCACTTGAAGAAAAATATGT	0.299000													4	27					0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5086741	5086741	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:5086741C>G	ENST00000399604.4	-	1	951	c.811G>C	c.(811-813)Gac>Cac	p.D271H	ZNF594_ENST00000575779.1_Missense_Mutation_p.D271H			Q96JF6	ZN594_HUMAN	zinc finger protein 594	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGTCCACAGTCATAACATTCA	0.393000													17	85					0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52845431	52845431	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:52845431G>A	ENST00000252252.3	-	1	479	c.432C>T	c.(430-432)ctC>ctT	p.L144L		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	144	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GGGGAGTCAGGAGACTCTGGT	0.622000													5	103					0	0	1	0	0
DDIT3	1649	broad.mit.edu	37	12	57911136	57911136	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:57911136C>T	ENST00000551116.1	-	3	390	c.123G>A	c.(121-123)ctG>ctA	p.L41L	DDIT3_ENST00000547303.1_Silent_p.L18L|DDIT3_ENST00000552740.1_Silent_p.L41L|DDIT3_ENST00000346473.3_Silent_p.L18L	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	18					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						ACCAGGCTTCCAGCTCCCAGC	0.507000			T	FUS	liposarcoma								8	53					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23523168	23523168	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr22:23523168C>T	ENST00000305877.8	+	1	772	c.21C>T	c.(19-21)ttC>ttT	p.F7F	BCR_ENST00000359540.3_Silent_p.F7F|BCR_ENST00000398512.5_Silent_p.F7F	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	7	Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CGGTGGGCTTCGCGGAGGCGT	0.766000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								5	5					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12501379	12501379	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:12501379C>G	ENST00000419318.1	-	4	2486	c.1737G>C	c.(1735-1737)tgG>tgC	p.W579C	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.W611C			Q96GE5	ZN799_HUMAN	zinc finger protein 799	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						GAGTTTTTTTCCAGTGAGTCT	0.403000													21	105					0	0	1	0	0
TOE1	114034	broad.mit.edu	37	1	45808108	45808108	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:45808108G>A	ENST00000372090.5	+	6	1128	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	TOE1_ENST00000495703.1_3'UTR|TOE1_ENST00000539779.1_Missense_Mutation_p.R102Q	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	182						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					GAGCTAATCCGAGCCCGCCGG	0.552000													4	127					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145015895	145015895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:145015895G>A	ENST00000369359.4	-	3	444	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.Q136*|PDE4DIP_ENST00000493130.2_Nonsense_Mutation_p.Q65*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.Q65*|PDE4DIP_ENST00000478649.2_Nonsense_Mutation_p.Q65*|PDE4DIP_ENST00000369348.3_Nonsense_Mutation_p.Q136*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTCTGTACCTGAGGGGGTTTC	0.463000			T	PDGFRB	MPD								45	862					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33679684	33679684	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:33679684G>C	ENST00000394566.1	-	7	2669	c.2397C>G	c.(2395-2397)ttC>ttG	p.F799L	SLFN11_ENST00000308377.4_Missense_Mutation_p.F799L	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	799						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCTATCAAAGAAGCGCCTGC	0.468000													3	54					0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244716022	244716022	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:244716022G>A	ENST00000366534.4	+	9	989	c.935G>A	c.(934-936)gGa>gAa	p.G312E	C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366533.4_Missense_Mutation_p.G312E|C1orf101_ENST00000366531.3_Missense_Mutation_p.G161E	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	312						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AGTTTTCGTGGATTTATAAGA	0.368000													8	106					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16892650	16892650	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr11:16892650C>T	ENST00000355661.3	-	4	311	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.E101K|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.E101K			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	101					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						ACTTACTCTTCTTGAAGAATG	0.403000													3	24					0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46997421	46997421	+	Silent	SNP	G	G	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:46997421G>T	ENST00000599531.1	-	1	2334	c.1302C>A	c.(1300-1302)ctC>ctA	p.L434L	PNMAL2_ENST00000377655.2_Intron|PNMAL2_ENST00000594749.1_Intron	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	434										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		AGCCCCCGAAGAGGCCACGCC	0.672000													11	52					5.16669e-11	5.4298e-11	1	1	0
ZNF132	7691	broad.mit.edu	37	19	58945239	58945239	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:58945239G>A	ENST00000254166.3	-	3	1972	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	524						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_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;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		AGCTGCGGCTGAAGGATTTCC	0.498000													11	60					0	0	1	0	0
TP53TG3D	729264	broad.mit.edu	37	16	32264936	32264936	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr16:32264936C>G	ENST00000398664.3	+	1	897	c.262C>G	c.(262-264)Cga>Gga	p.R88G	TP53TG3D_ENST00000354614.3_Missense_Mutation_p.R88G|TP53TG3D_ENST00000569631.1_Intron|RP11-56L13.7_ENST00000562604.1_RNA	NM_001243722.1	NP_001230651.1			TP53 target 3D																		CCTGTCTCCTCGAGCTGCAGG	0.532000													10	67					0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140246646	140246646	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:140246646C>T	ENST00000340951.4	-	12	1240	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	EXD3_ENST00000342129.4_Missense_Mutation_p.E29K	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	349					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GAGTCAGCCTCAGTCGCCCTG	0.642000													5	96					0	0	1	0	0
KCNIP4	80333	broad.mit.edu	37	4	20734306	20734306	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:20734306G>A	ENST00000382148.3	-	6	901	c.565C>T	c.(565-567)Cag>Tag	p.Q189*	KCNIP4_ENST00000382149.4_5'UTR|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000447367.2_Nonsense_Mutation_p.Q180*|KCNIP4_ENST00000382152.2_Nonsense_Mutation_p.Q214*|KCNIP4_ENST00000509207.1_Nonsense_Mutation_p.Q152*|KCNIP4_ENST00000359001.5_Nonsense_Mutation_p.Q152*|KCNIP4_ENST00000382150.4_Nonsense_Mutation_p.Q193*	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	214	EF-hand 3.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				ATTCCTACCTGAAAAAATGTT	0.368000													5	21					0	0	1	0	0
IDH3G	3421	broad.mit.edu	37	X	153053583	153053583	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chrX:153053583G>C	ENST00000370092.3	-	6	539	c.354C>G	c.(352-354)atC>atG	p.I118M	IDH3G_ENST00000370093.1_Missense_Mutation_p.I118M|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000217901.5_Missense_Mutation_p.I118M|IDH3G_ENST00000427365.2_Missense_Mutation_p.I60M	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	118					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GGTTGGTTTCGATGTTGCCTA	0.597000													64	95					0	0	1	0	0
CCDC155	147872	broad.mit.edu	37	19	49897753	49897753	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:49897753G>A	ENST00000447857.3	+	3	269	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	22						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GGAGCGGCCTGAGGAGGCAAG	0.602000													21	113					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143993504	143993504	+	Silent	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:143993504C>G	ENST00000323110.2	-	9	1406	c.1404G>C	c.(1402-1404)ctG>ctC	p.L468L		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	468					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GGAAGTGCTTCAGCACCTAGG	0.547000									Familial Hyperaldosteronism type I		OREG0006851	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CYP11B2|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	7	49					0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34021893	34021893	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr20:34021893G>A	ENST00000374372.1	-	4	1823	c.1320C>T	c.(1318-1320)caC>caT	p.H440H	GDF5_ENST00000374369.3_Silent_p.H440H|GDF5OS_ENST00000374375.1_5'UTR			P43026	GDF5_HUMAN	growth differentiation factor 5	440			H -> L (in DPS; located on the same allele as L-437 del and T-439).		cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TGGGCTCCAGGTGGGAGCGCA	0.607000													4	37					0	0	1	0	0
ZNF839	55778	broad.mit.edu	37	14	102792468	102792468	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:102792468C>T	ENST00000262236.5	+	2	442	c.87C>T	c.(85-87)atC>atT	p.I29I	ZNF839_ENST00000442396.2_Silent_p.I145I|ZNF839_ENST00000559185.1_Silent_p.I29I|ZNF839_ENST00000558850.1_Silent_p.I29I	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	29						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCTCCATATCGCCAGCCCTC	0.587000													4	30					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151166727	151166727	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:151166727C>T	ENST00000282466.3	-	4	1041	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	348					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAGTCATTTTCTTCAGTGAAT	0.398000													16	99					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295631	20295631	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:20295631G>A	ENST00000315947.1	+	1	24	c.24G>A	c.(22-24)gtG>gtA	p.V8V	OR4N2_ENST00000568211.1_Silent_p.V8V	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACAGAACAGTGATAAGAGAAT	0.393000													16	171					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113462	59113462	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:59113462G>A	ENST00000395153.3	+	4	2157	c.2010G>A	c.(2008-2010)gcG>gcA	p.A670A	DACT1_ENST00000335867.4_Silent_p.A707A|DACT1_ENST00000556859.1_Silent_p.A426A|DACT1_ENST00000541264.2_Silent_p.A426A|DACT1_ENST00000395151.3_Silent_p.A426A	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	707					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TGTACCCCGCGCCTGTGCCTC	0.677000													4	39					0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41811767	41811767	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:41811767C>T	ENST00000392006.3	+	14	2622	c.2449C>T	c.(2449-2451)Cag>Tag	p.Q817*	HNRNPUL1_ENST00000378215.4_Nonsense_Mutation_p.Q713*|HNRNPUL1_ENST00000593587.1_Nonsense_Mutation_p.Q717*|HNRNPUL1_ENST00000602130.1_Nonsense_Mutation_p.Q765*|HNRNPUL1_ENST00000352456.3_Nonsense_Mutation_p.Q727*|HNRNPUL1_ENST00000263367.3_Nonsense_Mutation_p.Q728*|HNRNPUL1_ENST00000595018.1_Nonsense_Mutation_p.Q717*	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	817	Gln-rich.|Necessary for interaction with TP53.|Tyr-rich.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TAACCAGTATCAGCAGGTAGG	0.582000													10	41					0	0	1	0	0
EML2	24139	broad.mit.edu	37	19	46141770	46141770	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:46141770C>G	ENST00000536630.1	-	6	751	c.613G>C	c.(613-615)Gag>Cag	p.E205Q	EML2_ENST00000587152.1_Missense_Mutation_p.E259Q|EML2_ENST00000589876.1_Missense_Mutation_p.E58Q|EML2_ENST00000245925.3_Missense_Mutation_p.E58Q	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	58					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TACACCCACTCCAGCTTGAGC	0.602000													24	82					0	0	1	0	0
DCAF10	79269	broad.mit.edu	37	9	37861311	37861311	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:37861311C>T	ENST00000242323.7	+	6	1449	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C	DCAF10_ENST00000377724.3_Missense_Mutation_p.R496C|DCAF10_ENST00000483167.1_3'UTR|RP11-613M10.9_ENST00000540557.1_Intron			Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	496						CUL4 RING ubiquitin ligase complex				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						CTATGGGATTCGCTTGTTGGG	0.473000													10	64					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10429087	10429087	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:10429087C>T	ENST00000245503.5	-	31	4678	c.4294G>A	c.(4294-4296)Gag>Aag	p.E1432K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1432K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1432					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1432Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATGAGGTCCTCGACCTCATTC	0.542000													25	96					0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155165634	155165634	+	Nonstop_Mutation	SNP	A	A	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:155165634A>G	ENST00000368378.3	-	23	2889	c.2869T>C	c.(2869-2871)Tga>Cga	p.*957R	THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000457183.2_Nonstop_Mutation_p.*837R|THBS3_ENST00000541576.1_Nonstop_Mutation_p.*354R|THBS3_ENST00000541990.1_Nonstop_Mutation_p.*486R	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	0					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	p.?(2)		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)			CCTCCTCCTCACACCCTTCCC	0.547000													4	168					0	0	1	0	0
ZNF141	7700	broad.mit.edu	37	4	367505	367505	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:367505G>A	ENST00000240499.7	+	4	1428	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	427					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						CAAATGTAAAGAATGTGACAA	0.363000													38	102					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768255	77768255	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:77768255C>T	ENST00000521891.2	+	10	9546	c.9098C>T	c.(9097-9099)tCa>tTa	p.S3033L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S3007L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2988L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2988L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2988			V -> G (in dbSNP:rs16939380).			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)			CAGCACATTTCAAAAGTGAGG	0.537000										HNSCC(33;0.089)			12	41					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179499108	179499108	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:179499108G>A	ENST00000589042.1	-	230	42624	c.42400C>T	c.(42400-42402)Cgg>Tgg	p.R14134W	TTN_ENST00000342992.6_Missense_Mutation_p.R11566W|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R5194W|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R12493W|TTN_ENST00000342175.6_Missense_Mutation_p.R5261W|TTN_ENST00000460472.2_Missense_Mutation_p.R5069W|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12493	Fibronectin type-III 2.						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)			ACAAACAACCGAGCTGAGGTC	0.408000													13	32					0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109553761	109553761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:109553761G>A	ENST00000357672.3	-	4	1198	c.823C>T	c.(823-825)Caa>Taa	p.Q275*	WDR47_ENST00000400794.3_Nonsense_Mutation_p.Q310*|WDR47_ENST00000369962.3_Nonsense_Mutation_p.Q303*|WDR47_ENST00000361054.3_Nonsense_Mutation_p.Q275*|WDR47_ENST00000369965.4_Nonsense_Mutation_p.Q303*			O94967	WDR47_HUMAN	WD repeat domain 47	303										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TCAGCTGATTGAGGTCTTCTC	0.438000													14	336					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2134388	2134388	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr16:2134388C>T	ENST00000219476.3	+	34	4795	c.4165C>T	c.(4165-4167)Ccc>Tcc	p.P1389S	TSC2_ENST00000439673.2_Missense_Mutation_p.P1286S|TSC2_ENST00000401874.2_Missense_Mutation_p.P1322S|TSC2_ENST00000353929.4_Missense_Mutation_p.P1346S|TSC2_ENST00000382538.6_Missense_Mutation_p.P1274S|TSC2_ENST00000568454.1_Missense_Mutation_p.P1333S|TSC2_ENST00000350773.4_Missense_Mutation_p.P1366S	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1389					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGCTCCTCTCCCGAGCTGCA	0.682000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				5	19					0	0	1	0	0
GSTA2	2939	broad.mit.edu	37	6	52619863	52619863	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:52619863C>T	ENST00000493422.1	-	4	305	c.150G>A	c.(148-150)ttG>ttA	p.L50L		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	50	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	GCTGGAACATCAAATATCCAT	0.393000													5	128					0	0	1	0	0
FXYD3	5349	broad.mit.edu	37	19	35613736	35613736	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:35613736C>G	ENST00000435734.2	+	7	424	c.165C>G	c.(163-165)atC>atG	p.I55M	FXYD3_ENST00000406242.3_Missense_Mutation_p.I55M|FXYD3_ENST00000344013.6_Missense_Mutation_p.I55M|FXYD3_ENST00000605677.1_Missense_Mutation_p.I55M|FXYD3_ENST00000604804.1_Missense_Mutation_p.I84M|FXYD3_ENST00000605550.1_Missense_Mutation_p.I55M|FXYD3_ENST00000346446.5_Missense_Mutation_p.I55M|FXYD3_ENST00000604621.1_Missense_Mutation_p.I55M|FXYD3_ENST00000604404.1_Missense_Mutation_p.I55M|FXYD3_ENST00000604255.1_Missense_Mutation_p.I112M|FXYD3_ENST00000406988.1_Missense_Mutation_p.I55M|FXYD3_ENST00000603181.1_Missense_Mutation_p.I55M|FXYD3_ENST00000535103.1_Missense_Mutation_p.I112M|FXYD3_ENST00000603524.1_Missense_Mutation_p.I84M	NM_001136011.1|NM_021910.2	NP_001129483.1|NP_068710.1	Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3	55						chloride channel complex|integral to plasma membrane	chloride channel activity			endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GCATCATCATCGTCATGAGTG	0.637000													4	111					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33469590	33469590	+	Missense_Mutation	SNP	G	G	A	rs150122122	byFrequency	TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:33469590G>A	ENST00000379471.2	-	5	721	c.634C>T	c.(634-636)Cac>Tac	p.H212Y	NOL6_ENST00000455041.2_Missense_Mutation_p.H152Y|NOL6_ENST00000464829.1_5'UTR			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	212					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GCCAGGTGGTGAGCCAAGTGG	0.607000													24	121					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7412287	7412287	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:7412287C>G	ENST00000361972.4	-	3	241	c.151G>C	c.(151-153)Gaa>Caa	p.E51Q	SFMBT2_ENST00000397160.3_Missense_Mutation_p.E51Q|SFMBT2_ENST00000397167.1_Missense_Mutation_p.E51Q|SFMBT2_ENST00000379713.3_Missense_Mutation_p.E51Q|SFMBT2_ENST00000379711.2_Missense_Mutation_p.E51Q	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	51					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCTGTCTCTTCCAAATATTCT	0.438000													21	110					0	0	1	0	0
AIF1L	83543	broad.mit.edu	37	9	133987011	133987011	+	Translation_Start_Site	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:133987011G>A	ENST00000372301.2	+	0	223				AIF1L_ENST00000472942.1_3'UTR|AIF1L_ENST00000247291.3_Missense_Mutation_p.D41N|AIF1L_ENST00000372302.1_Missense_Mutation_p.D41N|AIF1L_ENST00000372297.2_De_novo_Start_OutOfFrame|AIF1L_ENST00000372309.3_Missense_Mutation_p.D67N|AIF1L_ENST00000372300.1_Missense_Mutation_p.D41N|AIF1L_ENST00000372298.1_Missense_Mutation_p.D41N|AIF1L_ENST00000372312.3_Missense_Mutation_p.D46N			Q9BQI0	AIF1L_HUMAN	allograft inflammatory factor 1-like							actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane	actin filament binding|calcium ion binding			lung(2)	2						GAAGTACAGTGATGAAGAGAA	0.562000													52	286					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9783683	9783683	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:9783683G>A	ENST00000304374.2	+	1	426	c.30G>A	c.(28-30)gcG>gcA	p.A10A		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	10					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ACGGCACCGCGTACCCGGGGC	0.721000													4	9					0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25042928	25042928	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:25042928C>T	ENST00000260600.5	-	21	4159	c.3308G>A	c.(3307-3309)cGa>cAa	p.R1103Q	CENPO_ENST00000473706.1_3'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.R690Q|CENPO_ENST00000380834.2_3'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1103					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)					GATGGGGCCTCGCCTCACAAA	0.602000													12	36					0	0	1	0	0
PCBD2	84105	broad.mit.edu	37	5	134296335	134296335	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:134296335G>A	ENST00000512783.1	+	4	377	c.357G>A	c.(355-357)ctG>ctA	p.L119L	PCBD2_ENST00000254908.6_Silent_p.L119L			Q9H0N5	PHS2_HUMAN	pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2	119					positive regulation of transcription, DNA-dependent|tetrahydrobiopterin biosynthetic process		4-alpha-hydroxytetrahydrobiopterin dehydratase activity|protein binding			kidney(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGTGAAGCTGGCCAAGTTTA	0.368000													3	11					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195517437	195517437	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:195517437G>A	ENST00000463781.3	-	2	1473	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	MUC4_ENST00000475231.1_Silent_p.I338I|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	343					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGGTGTTGATTTGAGATA	0.458000													48	236					0	0	1	0	0
IL15RA	3601	broad.mit.edu	37	10	6008175	6008175	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:6008175C>T	ENST00000525219.2	-	2	402	c.108G>A	c.(106-108)ctG>ctA	p.L36L	IL15RA_ENST00000379971.1_Intron|IL15RA_ENST00000397248.2_Silent_p.L36L|IL15RA_ENST00000397251.3_Intron|IL15RA_ENST00000528354.1_Silent_p.L72L|IL15RA_ENST00000397255.3_Silent_p.L72L|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000530685.1_Silent_p.L72L|IL15RA_ENST00000379977.3_Silent_p.L72L|IL15RA_ENST00000397250.2_Intron	NM_001243539.1	NP_001230468.1	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	72	Sushi.				cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						CGCACTCCGTCAGGCTGGACG	0.552000													4	46					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45266755	45266755	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:45266755C>G	ENST00000372201.4	+	3	605	c.366C>G	c.(364-366)atC>atG	p.I122M	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	122	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.I83I(1)		endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ACCGCCACATCGTGCGTTTTT	0.547000													9	39					0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32400877	32400877	+	Silent	SNP	C	C	T	rs61737438	byFrequency	TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr18:32400877C>T	ENST00000283365.9	+	10	1350	c.999C>T	c.(997-999)atC>atT	p.I333I	DTNA_ENST00000444659.1_Silent_p.I333I|DTNA_ENST00000399121.5_Silent_p.I333I|DTNA_ENST00000598142.1_Silent_p.I333I|DTNA_ENST00000399113.3_Silent_p.I333I|DTNA_ENST00000554864.3_Silent_p.I333I|DTNA_ENST00000595022.1_Silent_p.I333I|DTNA_ENST00000269192.7_Silent_p.I15I|DTNA_ENST00000597674.1_Silent_p.I15I|DTNA_ENST00000399097.3_Silent_p.I15I|DTNA_ENST00000599844.1_Silent_p.I15I|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000601125.1_Silent_p.I15I|DTNA_ENST00000315456.6_Silent_p.I333I|DTNA_ENST00000269191.6_Silent_p.I333I|DTNA_ENST00000591182.1_Silent_p.I15I|DTNA_ENST00000597599.1_Silent_p.I333I|DTNA_ENST00000556414.3_Silent_p.I15I|DTNA_ENST00000348997.5_Silent_p.I333I|DTNA_ENST00000269190.7_Silent_p.I333I|DTNA_ENST00000598334.1_Silent_p.I333I|DTNA_ENST00000598774.1_Silent_p.I333I	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	333					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TGGCTCACATCGTGTGAGTAT	0.493000													10	56					0	0	1	0	0
SPPL2B	56928	broad.mit.edu	37	19	2344593	2344593	+	RNA	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:2344593C>T	ENST00000452401.2	+	0	1296				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						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)		CTCCTCACCTCTGGCCCTGTG	0.647000													4	17					0	0	1	0	0
TUBA3E	112714	broad.mit.edu	37	2	130951512	130951512	+	Missense_Mutation	SNP	C	C	G	rs146523442		TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:130951512C>G	ENST00000312988.7	-	4	1003	c.903G>C	c.(901-903)caG>caC	p.Q301H		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	301					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					ACTTGACCATCTGATTGGCTG	0.602000													9	190					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197087024	197087024	+	Silent	SNP	G	G	A	rs148964635		TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:197087024G>A	ENST00000367409.4	-	17	4216	c.3960C>T	c.(3958-3960)ctC>ctT	p.L1320L	ASPM_ENST00000367408.1_Silent_p.L570L|ASPM_ENST00000294732.7_Silent_p.L1320L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1320					mitosis	cytoplasm|nucleus	calmodulin binding	p.L1320L(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCTGAATGACGAGTGCTGCAT	0.313000													32	133					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910689	29910689	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:29910689G>C	ENST00000396634.1	+	4	570	c.229G>C	c.(229-231)Gag>Cag	p.E77Q	HLA-A_ENST00000376806.5_Missense_Mutation_p.E77Q|HLA-A_ENST00000376802.2_Missense_Mutation_p.E77Q|HLA-A_ENST00000376809.5_Missense_Mutation_p.E77Q			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	77	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GCCGTGGATAGAGCAGGAGGG	0.662000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			4	42					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3832721	3832721	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr16:3832721G>A	ENST00000262367.5	-	6	2346	c.1537C>T	c.(1537-1539)Caa>Taa	p.Q513*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q475*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	513					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGGTGGGTTTGAGGCTGTGCT	0.567000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						6	92					0	0	1	0	0
FRMD5	84978	broad.mit.edu	37	15	44166084	44166084	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr15:44166084C>T	ENST00000417257.1	-	14	1888	c.1712G>A	c.(1711-1713)tGa>tAa	p.*571*	FRMD5_ENST00000402883.1_Intron|FRMD5_ENST00000484674.1_3'UTR	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	0						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		CATGCCTTCTCAGGTGTCAAT	0.532000													11	21					0	0	1	0	0
SERBP1	26135	broad.mit.edu	37	1	67890791	67890791	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:67890791C>G	ENST00000370994.4	-	3	694	c.580G>C	c.(580-582)Gat>Cat	p.D194H	SERBP1_ENST00000361219.6_Missense_Mutation_p.D194H|SERBP1_ENST00000370995.2_Missense_Mutation_p.D194H|SERBP1_ENST00000484880.1_5'UTR|SERBP1_ENST00000370990.5_Missense_Mutation_p.D194H	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	194					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CTATGCCTATCAAATTCACGT	0.398000													7	86					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62594530	62594530	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:62594530C>T	ENST00000371158.2	+	41	5298	c.5184C>T	c.(5182-5184)gtC>gtT	p.V1728V		NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1728	PDZ 10.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATCGGATTGTCAGCATTAACG	0.423000													22	82					0	0	1	0	0
SIRT6	51548	broad.mit.edu	37	19	4180808	4180808	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:4180808G>A	ENST00000337491.2	-	2	229	c.165C>T	c.(163-165)atC>atT	p.I55I	SIRT6_ENST00000594279.1_5'UTR|SIRT6_ENST00000381935.3_Intron|SIRT6_ENST00000601488.1_Silent_p.I55I|SIRT6_ENST00000305232.6_Silent_p.I55I	NM_016539.2	NP_057623.2	Q8N6T7	SIRT6_HUMAN	sirtuin 6	55	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCAGTGCTGATGCCGGCAC	0.632000													4	33					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112622170	112622170	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:112622170C>T	ENST00000550722.1	-	61	10557	c.10162G>A	c.(10162-10164)Gaa>Aaa	p.E3388K	HECTD4_ENST00000430131.2_Missense_Mutation_p.E3112K|HECTD4_ENST00000377560.5_Missense_Mutation_p.E3362K	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TCCAGGCTTTCCTGGCTGGAC	0.682000													6	28					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131073207	131073207	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:131073207C>G	ENST00000357668.1	-	27	2837	c.2810G>C	c.(2809-2811)gGa>gCa	p.G937A	ASAP1_ENST00000518721.1_Missense_Mutation_p.G937A			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	937	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GGGCAGGTCTCCAGGTGGTGG	0.557000													41	181					0	0	1	0	0
ISY1	57461	broad.mit.edu	37	3	128853674	128853674	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:128853674C>T	ENST00000393292.3	-	8	603	c.542G>A	c.(541-543)cGt>cAt	p.R181H	ISY1-RAB43_ENST00000418265.1_Splice_Site|ISY1_ENST00000471497.1_Intron|ISY1_ENST00000273541.8_Splice_Site|ISY1_ENST00000393295.3_Splice_Site					ISY1 splicing factor homolog (S. cerevisiae)											endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						CAGAGACCTACGTTTCTTTTC	0.388000													8	100					0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82380544	82380544	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:82380544G>A	ENST00000436139.2	-	2	245	c.119C>T	c.(118-120)tCt>tTt	p.S40F	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.S40F|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.S40F|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.S40F			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	40	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						CAGGGATCCAGAGAGGAGGTT	0.443000													6	79					0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162337156	162337156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:162337156G>T	ENST00000493151.1	+	2	2902	c.535G>T	c.(535-537)Gag>Tag	p.E179*	NOS1AP_ENST00000454693.1_3'UTR|NOS1AP_ENST00000530878.1_Nonsense_Mutation_p.E469*|RP11-565P22.6_ENST00000431696.1_Intron|NOS1AP_ENST00000361897.5_Nonsense_Mutation_p.E474*	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	474	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GGACGAGAGCGAGGAGCGCGA	0.662000													5	18					1	1	1	1	0
ZNF750	79755	broad.mit.edu	37	17	80790328	80790328	+	Translation_Start_Site	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:80790328C>T	ENST00000269394.3	-	2	836	c.3G>A	c.(1-3)atG>atA	p.M1I	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	1						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGAGGAGACTCATTTTCCTCC	0.512000													14	34					0	0	1	0	0
MLLT1	4298	broad.mit.edu	37	19	6262295	6262295	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:6262295C>T	ENST00000252674.7	-	3	383	c.220G>A	c.(220-222)Gag>Aag	p.E74K		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	74	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CCCGACTCCTCTACTTTGTAG	0.562000			T	MLL	AL								6	35					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1806153	1806153	+	Missense_Mutation	SNP	C	C	A	rs28931615		TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:1806153C>A	ENST00000340107.4	+	9	1434	c.1178C>A	c.(1177-1179)gCg>gAg	p.A393E	FGFR3_ENST00000440486.2_Missense_Mutation_p.A391E|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000260795.2_Missense_Mutation_p.A391E|FGFR3_ENST00000481110.2_Missense_Mutation_p.A391E	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	391					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.A391E(32)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CTGGTGGTGGCGGCTGTGACG	0.657000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				10	335					0.000673444	0.000687064	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16907943	16907943	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:16907943C>G	ENST00000430580.2	-	15	2238	c.1351G>C	c.(1351-1353)Gag>Cag	p.E451Q		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	451	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTACTTTCTCAGCCTCCTCA	0.433000													15	905					0	0	1	0	0
BBS12	166379	broad.mit.edu	37	4	123664194	123664194	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:123664194G>A	ENST00000542236.1	+	3	1528	c.1147G>A	c.(1147-1149)Gat>Aat	p.D383N	BBS12_ENST00000314218.3_Missense_Mutation_p.D383N	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	383					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AACAGTATTAGATAGCATGCG	0.443000									Bardet-Biedl syndrome				4	50					0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149900959	149900959	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:149900959C>T	ENST00000261797.6	+	2	645	c.143C>T	c.(142-144)tCg>tTg	p.S48L	NDST1_ENST00000523767.1_Missense_Mutation_p.S48L	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	48	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGAGCCCTCGGCGGATGCC	0.652000													4	84					0	0	1	0	0
LOXL3	84695	broad.mit.edu	37	2	74763958	74763958	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:74763958G>A	ENST00000264094.3	-	5	861	c.790C>T	c.(790-792)Cgt>Tgt	p.R264C	LOXL3_ENST00000409549.1_Missense_Mutation_p.R264C|LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000409249.1_Missense_Mutation_p.R264C	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	264	SRCR 2.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TCATTGGCACGATAGAACTCC	0.642000													23	89					0	0	1	0	0
CNBP	7555	broad.mit.edu	37	3	128890588	128890588	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:128890588C>T	ENST00000422453.2	-	2	173	c.13G>A	c.(13-15)Gag>Aag	p.E5K	CNBP_ENST00000500450.2_Missense_Mutation_p.E5K|CNBP_ENST00000451728.2_Missense_Mutation_p.E5K|CNBP_ENST00000504813.1_Missense_Mutation_p.E5K|CNBP_ENST00000446936.2_Missense_Mutation_p.E5K|CNBP_ENST00000441626.2_Missense_Mutation_p.E5K|CNBP_ENST00000502976.1_Missense_Mutation_p.E5K	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	5					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						TTGAAGCACTCATTGCTGCTC	0.443000													8	46					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085573	9085573	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:9085573G>C	ENST00000397910.4	-	1	6445	c.6242C>G	c.(6241-6243)tCa>tGa	p.S2081*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2081	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTGGGTTTGAAACCCCAGA	0.483000													9	165					0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39092740	39092740	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:39092740C>T	ENST00000209718.3	-	2	540	c.116G>A	c.(115-117)gGg>gAg	p.G39E	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Intron	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	39	Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GCGGGCTCCCCCCGCACCGCC	0.701000													20	57					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72208801	72208801	+	Silent	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr15:72208801C>G	ENST00000356056.5	-	19	3067	c.2595G>C	c.(2593-2595)ctG>ctC	p.L865L	MYO9A_ENST00000564571.1_Silent_p.L865L|MYO9A_ENST00000424560.1_Silent_p.L865L|MYO9A_ENST00000444904.1_Silent_p.L846L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Silent_p.L485L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	865					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCAGTCTTGTCAGGTGCTTTA	0.358000													20	32					0	0	1	0	0
PSPN	5623	broad.mit.edu	37	19	6375737	6375737	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:6375737C>G	ENST00000597721.1	-	1	3332	c.124G>C	c.(124-126)Gca>Cca	p.A42P	PSPN_ENST00000245810.1_Missense_Mutation_p.A42P			O60542	PSPN_HUMAN	persephin	42					axon guidance|central nervous system development		growth factor activity			lung(1)|ovary(1)|skin(1)	3						CCAGCCTTTGCCACCTGTTCA	0.657000													5	17					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62547863	62547863	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:62547863C>T	ENST00000430451.2	+	4	1502	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	435	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CTGTCCGCTTCCGCCTGTACG	0.567000													9	20					0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8110643	8110643	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr7:8110643C>T	ENST00000223145.5	+	6	1616	c.1059C>T	c.(1057-1059)gtC>gtT	p.V353V		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	353										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CTCCTTCTGTCCAGGAGCGCA	0.537000													24	82					0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144086673	144086673	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:144086673G>A	ENST00000427704.2	+	6	1067	c.937G>A	c.(937-939)Gag>Aag	p.E313K	PHACTR2_ENST00000367582.3_Missense_Mutation_p.E244K|PHACTR2_ENST00000367584.4_Missense_Mutation_p.E301K|PHACTR2_ENST00000440869.2_Missense_Mutation_p.E324K|PHACTR2_ENST00000305766.6_Missense_Mutation_p.E233K	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	313							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CCCTGGAGCTGAGGAGCAGAA	0.567000													14	43					0	0	1	0	0
SYCE2	256126	broad.mit.edu	37	19	13011342	13011342	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:13011342C>T	ENST00000293695.7	-	4	445	c.427G>A	c.(427-429)Gag>Aag	p.E143K	GCDH_ENST00000588242.2_3'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	143					cell division	central element				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						AGCTCTGTCTCCAAATGGCTG	0.478000													10	55					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21550065	21550065	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chrX:21550065C>T	ENST00000425654.2	+	11	1663	c.1183C>T	c.(1183-1185)Ctg>Ttg	p.L395L	CNKSR2_ENST00000543067.1_Silent_p.L346L|CNKSR2_ENST00000279451.4_Silent_p.L395L|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000379510.3_Silent_p.L395L	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	395	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAATTCATTTCTGGATCAGGA	0.378000													20	42					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47456103	47456103	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:47456103G>A	ENST00000265565.5	-	21	3758	c.3346C>T	c.(3346-3348)Cag>Tag	p.Q1116*	SCAP_ENST00000441517.2_Nonsense_Mutation_p.Q860*|SCAP_ENST00000545718.1_Nonsense_Mutation_p.Q723*	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1116	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GAGTGGCCCTGAAGGGTGAAG	0.582000													4	66					0	0	1	0	0
STARD3	10948	broad.mit.edu	37	17	37813326	37813326	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:37813326C>T	ENST00000336308.5	+	3	503	c.285C>T	c.(283-285)ttC>ttT	p.F95F	STARD3_ENST00000544210.2_Silent_p.F95F|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000580611.1_Intron|STARD3_ENST00000394250.4_Silent_p.F95F	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	95	MENTAL.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AAACTTCCTTCTTCGACATCT	0.517000													8	74					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139216519	139216519	+	Silent	SNP	C	C	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:139216519C>A	ENST00000274710.3	+	10	1732	c.1527C>A	c.(1525-1527)ctC>ctA	p.L509L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	509					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGGCGCTCAGTGCCACCA	0.617000													8	91					0.000157383	0.000162023	1	1	0
IFIT5	24138	broad.mit.edu	37	10	91177918	91177918	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:91177918C>T	ENST00000371795.4	+	2	1175	c.962C>T	c.(961-963)tCa>tTa	p.S321L	IFIT5_ENST00000416601.1_Missense_Mutation_p.S273L	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	321							binding			endometrium(1)|large_intestine(4)|lung(4)	9						GAGCTGATTTCATCTGCTATA	0.438000													45	167					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66456268	66456268	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr11:66456268G>A	ENST00000533211.1	-	31	6418	c.6087C>T	c.(6085-6087)ctC>ctT	p.L2029L	SPTBN2_ENST00000309996.2_Silent_p.L2029L|SPTBN2_ENST00000529997.1_Silent_p.L2029L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2029					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCTGGCTGCAGAGCCAGGCCT	0.607000													5	26					0	0	1	0	0
IL6R	3570	broad.mit.edu	37	1	154426976	154426976	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:154426976C>G	ENST00000368485.3	+	9	1516	c.1079C>G	c.(1078-1080)tCt>tGt	p.S360C	IL6R_ENST00000344086.4_Intron|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	360					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAAGATTCTTCTTCAGTACCA	0.478000													5	15					0	0	1	0	0
MELK	9833	broad.mit.edu	37	9	36589550	36589550	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:36589550C>G	ENST00000543751.1	+	3	211	c.66C>G	c.(64-66)atC>atG	p.I22M	MELK_ENST00000541717.1_Missense_Mutation_p.I54M|MELK_ENST00000538311.1_5'UTR|MELK_ENST00000536329.1_Intron|MELK_ENST00000536860.1_Missense_Mutation_p.I54M|MELK_ENST00000536987.1_5'UTR|MELK_ENST00000298048.2_Missense_Mutation_p.I54M|MELK_ENST00000487398.1_3'UTR|MELK_ENST00000545008.1_Missense_Mutation_p.I54M	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	54	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TGCCCCGGATCAAAACGGAGA	0.403000													4	116					0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75757687	75757687	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:75757687C>G	ENST00000260113.2	+	5	775	c.596C>G	c.(595-597)tCt>tGt	p.S199C	RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.S199C|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	199						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GTTTGGGGATCTGTGTGGCGA	0.418000													17	52					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18254415	18254415	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:18254415A>G	ENST00000377369.2	+	4	820	c.547A>G	c.(547-549)Atg>Gtg	p.M183V	SLC39A12_ENST00000377374.4_Missense_Mutation_p.M183V|SLC39A12_ENST00000539911.1_Missense_Mutation_p.M49V|SLC39A12_ENST00000377371.3_Missense_Mutation_p.M183V	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	183					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ATTTCAGTGTATGGAAACCAA	0.363000													6	58					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6679175	6679175	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:6679175C>T	ENST00000245907.6	-	38	4683	c.4591G>A	c.(4591-4593)Gaa>Aaa	p.E1531K	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1531	NTR.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCCAGCCGTTCTTCCAGGGTG	0.552000													11	39					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458810	45458810	+	RNA	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:45458810G>A	ENST00000548424.1	+	0	448																											TGCCAGATATGTCACACAGGA	0.468000													5	26					0	0	1	0	0
UBE2D3	7323	broad.mit.edu	37	4	103723796	103723796	+	Splice_Site	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:103723796C>T	ENST00000453744.2	-	5	634		c.e5-1		UBE2D3_ENST00000504211.1_Splice_Site|UBE2D3_ENST00000350435.7_Splice_Site|UBE2D3_ENST00000394803.5_Splice_Site|UBE2D3_ENST00000321805.7_Splice_Site|UBE2D3_ENST00000343106.5_Splice_Site|UBE2D3_ENST00000394801.4_Splice_Site|UBE2D3_ENST00000349311.8_Splice_Site|UBE2D3_ENST00000505207.1_Splice_Site|UBE2D3_ENST00000502404.1_Splice_Site|UBE2D3_ENST00000357194.6_Splice_Site|UBE2D3_ENST00000394804.2_Splice_Site|UBE2D3_ENST00000507845.1_Splice_Site|UBE2D3_ENST00000338145.3_Splice_Site	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3						apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		GGCTGTCATTCTGTAAAAAGA	0.328000													5	73					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64626098	64626098	+	Silent	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:64626098C>G	ENST00000357395.3	+	88	16331	c.5187C>G	c.(5185-5187)ctC>ctG	p.L1729L	SYNE2_ENST00000344113.4_Silent_p.L5344L|SYNE2_ENST00000554584.1_Silent_p.L5261L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.L1729L|SYNE2_ENST00000358025.3_Silent_p.L5344L|SYNE2_ENST00000555002.1_Silent_p.L1978L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5344					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCGGCAAACTCAAAGGTCTCT	0.383000													3	59					0	0	1	0	0
MLLT1	4298	broad.mit.edu	37	19	6227034	6227034	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:6227034G>C	ENST00000252674.7	-	5	663	c.500C>G	c.(499-501)tCt>tGt	p.S167C		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	167					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGAGAAGGCAGAGAGTGGAAT	0.602000			T	MLL	AL								7	39					0	0	1	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858569	149858569	+	Silent	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:149858569C>G	ENST00000331380.2	+	1	45	c.45C>G	c.(43-45)gcC>gcG	p.A15A		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	15					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGCCAAGGCCAAGTCGCGCT	0.617000													25	106					0	0	1	0	0
KIAA1456	57604	broad.mit.edu	37	8	12879287	12879287	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:12879287G>A	ENST00000524591.2	+	5	1588	c.1099G>A	c.(1099-1101)Gat>Aat	p.D367N	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	367							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						CAACATAGAAGATGATAATCC	0.408000													5	27					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29490318	29490318	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:29490318C>T	ENST00000358273.4	+	4	786	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	NF1_ENST00000356175.3_Missense_Mutation_p.R135W|NF1_ENST00000431387.4_Missense_Mutation_p.R135W	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	135					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.L134fs*19(1)|p.R135fs*30(1)	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)		AGCTGAACTTCGGAATTCTGC	0.438000			"""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	40					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766771	77766771	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:77766771G>A	ENST00000521891.2	+	10	8062	c.7614G>A	c.(7612-7614)atG>atA	p.M2538I	ZFHX4_ENST00000518282.1_Missense_Mutation_p.M2512I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.M2493I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.M2493I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2493						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)			TGCCCTACATGATATTTGACC	0.542000										HNSCC(33;0.089)			7	139					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160194081	160194081	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:160194081C>A	ENST00000392783.2	-	32	6152	c.5657G>T	c.(5656-5658)aGa>aTa	p.R1886I	BAZ2B_ENST00000343439.5_Missense_Mutation_p.R1786I|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R1852I|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R1850I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1886					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CAGATACCTTCTTTCAATGTT	0.493000													9	107					2.17888e-05	2.25847e-05	1	1	0
MKKS	8195	broad.mit.edu	37	20	10393479	10393479	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr20:10393479C>G	ENST00000347364.2	-	3	1446	c.684G>C	c.(682-684)atG>atC	p.M228I		NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	228	Substrate-binding apical domain.				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						GTAATAGCCTCATTAATTGAA	0.378000													5	105					0	0	1	0	0
ZNF350	59348	broad.mit.edu	37	19	52469099	52469099	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:52469099C>G	ENST00000243644.4	-	5	834	c.607G>C	c.(607-609)Gag>Cag	p.E203Q	HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	203					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TGATGCTTCTCTAATTTTCGT	0.423000													33	143					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857019	19857019	+	RNA	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:19857019C>T	ENST00000548109.1	+	0	72																											ATTATACTCTCAGCATCCTGG	0.383000													11	109					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43414913	43414913	+	Silent	SNP	T	T	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:43414913T>C	ENST00000187910.2	-	3	590	c.525A>G	c.(523-525)gcA>gcG	p.A175A	PSG6_ENST00000402603.4_Silent_p.A175A|PSG6_ENST00000292125.2_Silent_p.A175A	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ACAGGTAGCTTGCATCCGGAG	0.527000													17	299					0	0	1	0	0
HSF2	3298	broad.mit.edu	37	6	122744730	122744730	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:122744730G>C	ENST00000452194.1	+	10	1262	c.1075G>C	c.(1075-1077)Gag>Cag	p.E359Q	HSF2_ENST00000368455.4_Missense_Mutation_p.E359Q|HSF2_ENST00000465214.1_3'UTR	NM_001135564.1	NP_001129036.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	359					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		CCTTAGGGTTGAGCTGTTGGA	0.348000													12	67					0	0	1	0	0
RANGAP1	5905	broad.mit.edu	37	22	41650340	41650340	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr22:41650340G>A	ENST00000455915.2	-	10	2701	c.1232C>T	c.(1231-1233)tCa>tTa	p.S411L	RANGAP1_ENST00000405486.1_Missense_Mutation_p.S411L|RANGAP1_ENST00000356244.3_Missense_Mutation_p.S411L|RANGAP1_ENST00000407260.4_Missense_Mutation_p.S356L			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	411					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AATCTTCCGTGAGGGCGTGGC	0.547000													9	54					0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29858623	29858623	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr16:29858623G>T	ENST00000357402.5	+	14	2509	c.2371G>T	c.(2371-2373)Gag>Tag	p.E791*	MVP_ENST00000395353.1_Nonsense_Mutation_p.E791*	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	791					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GGCTGAGGTGGAGGTGAAGAA	0.612000													8	56					5.18039e-06	5.38192e-06	1	1	0
COX10	1352	broad.mit.edu	37	17	14110529	14110529	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:14110529G>A	ENST00000261643.3	+	7	1408	c.1331G>A	c.(1330-1332)tGa>tAa	p.*444*	COX10_ENST00000536205.1_Silent_p.*252*|COX10_ENST00000537334.1_Silent_p.*227*	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	0					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CCTCCCAGCTGAGAGCACTGG	0.622000													8	15					0	0	1	0	0
TM9SF3	56889	broad.mit.edu	37	10	98303855	98303855	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:98303855C>G	ENST00000371142.4	-	9	1379	c.1163G>C	c.(1162-1164)aGa>aCa	p.R388T	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	388						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		AGGAATGGCTCTTGAAGCATG	0.388000													9	43					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134503945	134503945	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:134503945G>C	ENST00000372195.1	-	8	1251	c.1008C>G	c.(1006-1008)atC>atG	p.I336M	RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.I319M|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.I337M			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	319					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CCTGCCTATTGATTCCAACAG	0.617000													5	29					0	0	1	0	0
PSPN	5623	broad.mit.edu	37	19	6375746	6375746	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:6375746C>T	ENST00000597721.1	-	1	3323	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	PSPN_ENST00000245810.1_Missense_Mutation_p.E39K			O60542	PSPN_HUMAN	persephin	39					axon guidance|central nervous system development		growth factor activity			lung(1)|ovary(1)|skin(1)	3						GCCACCTGTTCAGACGAGAAC	0.647000													5	22					0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77806202	77806202	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:77806202G>A	ENST00000344720.5	+	6	1788	c.762G>A	c.(760-762)caG>caA	p.Q254Q	AK5_ENST00000354567.2_Silent_p.Q280Q	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	280					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						ACTTCAAGCAGAATGCTGCTC	0.438000													17	71					0	0	1	0	0
DUSP28	285193	broad.mit.edu	37	2	241500876	241500876	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:241500876G>C	ENST00000405954.1	+	2	906	c.523G>C	c.(523-525)Gag>Cag	p.E175Q	DUSP28_ENST00000343217.2_Missense_Mutation_p.E175Q			Q4G0W2	DUS28_HUMAN	dual specificity phosphatase 28	175							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			lung(2)|upper_aerodigestive_tract(1)	3		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311)		GTTGGGCCCTGAGGCTTGAAG	0.587000													3	20					0	0	1	0	0
ZIC2	7546	broad.mit.edu	37	13	100637246	100637246	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr13:100637246C>T	ENST00000376335.3	+	2	1415	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	374					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACCGGCGCTTCGCCAACAGCA	0.617000													5	80					0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52818394	52818394	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:52818394G>A	ENST00000252245.5	-	9	1783	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	521	Tail.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGGTGGCACTGAATCCAGAAC	0.612000													42	137					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368721	86368721	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr13:86368721C>G	ENST00000400286.2	-	2	2521	c.1923G>C	c.(1921-1923)aaG>aaC	p.K641N		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	641						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTACTTGTTTCTTTTTGTATC	0.413000													25	98					0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10117803	10117803	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:10117803G>A	ENST00000382452.2	-	2	354	c.72C>T	c.(70-72)ggC>ggT	p.G24G	WDR1_ENST00000502702.1_Silent_p.G24G|WDR1_ENST00000382451.2_Silent_p.G24G|WDR1_ENST00000499869.2_Silent_p.G24G	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	24					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		TAGGGTCGCCGCCGATGATCT	0.617000													3	18					0	0	1	0	0
ARPC4	10093	broad.mit.edu	37	3	9839366	9839366	+	Silent	SNP	G	G	C	rs148937119	by1000genomes	TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:9839366G>C	ENST00000397261.3	+	2	591	c.27G>C	c.(25-27)ctG>ctC	p.L9L	ARPC4_ENST00000498623.2_5'UTR|ARPC4_ENST00000287613.7_5'UTR|ARPC4-TTLL3_ENST00000397256.1_Silent_p.L9L|ARPC4_ENST00000433034.1_Silent_p.L28L	NM_005718.4	NP_005709.1			actin related protein 2/3 complex, subunit 4, 20kDa											breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					GCCCCTACCTGAGTGCCGTGC	0.562000													4	83					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62522214	62522214	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:62522214G>A	ENST00000383710.4	-	12	2358	c.2009C>T	c.(2008-2010)tCt>tTt	p.S670F	CADPS_ENST00000357948.3_Missense_Mutation_p.S670F|CADPS_ENST00000283269.9_Missense_Mutation_p.S670F	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	670					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGGGTTGGAAGAGATAAATTC	0.398000													17	110					0	0	1	0	0
NXPH4	11247	broad.mit.edu	37	12	57619053	57619053	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:57619053C>T	ENST00000349394.5	+	2	625	c.450C>T	c.(448-450)ctC>ctT	p.L150L	NXPH4_ENST00000555154.1_3'UTR	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	150	III.				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						TGGGCAACCTCAGTGTCAGCA	0.622000													9	110					0	0	1	0	0
PPP1R17	10842	broad.mit.edu	37	7	31732068	31732068	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr7:31732068G>A	ENST00000342032.3	+	2	641	c.13G>A	c.(13-15)Gag>Aag	p.E5K	PPP1R17_ENST00000409146.3_Missense_Mutation_p.E5K	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17	5					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											GATGTCCACTGAGCAAATGCA	0.423000													5	84					0	0	1	0	0
PRKACA	5566	broad.mit.edu	37	19	14213715	14213715	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:14213715C>T	ENST00000308677.4	-	4	445	c.249G>A	c.(247-249)ctG>ctA	p.L83L	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Silent_p.L75L|PRKACA_ENST00000350356.3_5'UTR	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	83	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CGATCTGTTTCAGTTTCACCA	0.557000													10	105					0	0	1	0	0
ZNF124	7678	broad.mit.edu	37	1	247319999	247319999	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:247319999C>G	ENST00000340684.6	-	4	877	c.739G>C	c.(739-741)Gaa>Caa	p.E247Q	ZNF124_ENST00000543802.2_Missense_Mutation_p.E309Q|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TGAGTCCTTTCATGGTCACGA	0.413000													5	77					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70806670	70806670	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:70806670G>A	ENST00000358731.4	+	17	4014	c.3751G>A	c.(3751-3753)Gag>Aag	p.E1251K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1251	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGGGAAAAGGAGATTGATTT	0.383000													5	129					0	0	1	0	0
CPT2	1376	broad.mit.edu	37	1	53676214	53676214	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:53676214T>A	ENST00000371486.3	+	4	1383	c.868T>A	c.(868-870)Tac>Aac	p.Y290N	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	290					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	TCCCCTGGCATACCTGACCAG	0.557000													4	115					0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820445	55820445	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:55820445G>A	ENST00000328314.3	+	1	408	c.408G>A	c.(406-408)agG>agA	p.R136R		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGAGTGACAGGATCTGTTATC	0.453000													10	101					0	0	1	0	0
IGHA2	3494	broad.mit.edu	37	14	106054673	106054673	+	RNA	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:106054673C>T	ENST00000390539.2	-	0	59																											CGACCACGTTCCCATCTTGGG	0.632000													12	57					0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4623745	4623745	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:4623745C>T	ENST00000575877.1	+	13	951	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	ARRB2_ENST00000269260.2_Silent_p.I353I|ARRB2_ENST00000412477.3_Silent_p.I374I|ARRB2_ENST00000346341.2_Silent_p.I338I|ARRB2_ENST00000381488.6_Silent_p.I338I|ARRB2_ENST00000571206.1_Silent_p.I161I|ARRB2_ENST00000572457.1_Silent_p.I161I|ARRB2_ENST00000574954.1_Silent_p.I161I	NM_001257329.1	NP_001244258.1	P32121	ARRB2_HUMAN	arrestin, beta 2	183	Interaction with TRAF6.				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						ACGACCACATCCCCCTCCCCA	0.622000													9	129					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42965051	42965051	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:42965051C>A	ENST00000399770.2	+	2	527	c.527C>A	c.(526-528)gCc>gAc	p.A176D		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	176	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AAAAACATAGCCCTGAATGGT	0.448000													72	270					6.5469e-37	6.91231e-37	1	1	0
RB1	5925	broad.mit.edu	37	13	48947540	48947540	+	Splice_Site	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr13:48947540G>A	ENST00000267163.4	+	12	1265		c.e12-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATCCCCTCTAGGACTGTTATG	0.299000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			18	46					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111142101	111142101	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr13:111142101G>A	ENST00000360467.5	+	36	3621	c.3315G>A	c.(3313-3315)ctG>ctA	p.L1105L		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1105	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GACCAGGCCTGAAGGGGGAGC	0.493000													9	119					0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95557087	95557087	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:95557087C>G	ENST00000371418.4	+	8	1461	c.1201C>G	c.(1201-1203)Ctg>Gtg	p.L401V	LGI1_ENST00000542308.1_Missense_Mutation_p.L353V|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	401					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	p.L401M(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TCATTTAATTCTGTCTAGTAG	0.428000													17	54					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12502589	12502589	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:12502589C>G	ENST00000419318.1	-	4	1276	c.527G>C	c.(526-528)tGg>tCg	p.W176S	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.W208S			Q96GE5	ZN799_HUMAN	zinc finger protein 799	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TAAACTGGGCCAAAAAAACGC	0.413000													22	137					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6754898	6754898	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:6754898C>G	ENST00000230859.6	+	13	1598	c.1469C>G	c.(1468-1470)tCt>tGt	p.S490C		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	490					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATGAAGGGCTCTCACGGCCAC	0.627000													6	19					0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2593314	2593314	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr11:2593314G>T	ENST00000155840.5	+	5	863	c.755G>T	c.(754-756)gGc>gTc	p.G252V	KCNQ1_ENST00000335475.5_Missense_Mutation_p.G125V	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	252					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	AGGCTCCTGGGCTCCGTGGTC	0.677000													3	6					0.115264	0.115774	1	1	0
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502000			T	MLL	ALL								5	141					0	0	1	0	0
PMS2CL	441194	broad.mit.edu	37	7	6777261	6777261	+	RNA	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr7:6777261C>T	ENST00000486256.1	+	0	1388					NR_002217.1																						GGTTTTGCCTCAGCCAACTAA	0.403000													22	82					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123966193	123966193	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:123966193G>A	ENST00000314393.4	+	3	3278	c.2443G>A	c.(2443-2445)Gcg>Acg	p.A815T		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	815						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GAGTCAGGCTGCGGCAGAAGG	0.587000													3	23					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55495074	55495074	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:55495074G>C	ENST00000543010.1	+	6	2151	c.2008G>C	c.(2008-2010)Gaa>Caa	p.E670Q	NLRP2_ENST00000538819.1_Missense_Mutation_p.E646Q|NLRP2_ENST00000263437.6_Missense_Mutation_p.E667Q|NLRP2_ENST00000448584.2_Missense_Mutation_p.E670Q|NLRP2_ENST00000339757.7_Missense_Mutation_p.E648Q|NLRP2_ENST00000391721.4_Missense_Mutation_p.E646Q|NLRP2_ENST00000427260.2_Missense_Mutation_p.E647Q|NLRP2_ENST00000537859.1_Missense_Mutation_p.E648Q	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	670					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CACTGCGTCTGAATCAGACGC	0.517000													6	53					0	0	1	0	0
IRF1	3659	broad.mit.edu	37	5	131825147	131825147	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:131825147C>T	ENST00000245414.4	-	2	282	c.24G>A	c.(22-24)atG>atA	p.M8I	IRF1_ENST00000463784.1_Intron|IRF1_ENST00000405885.2_Missense_Mutation_p.M8I	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	8			M -> L (in GASC; somatic mutation; produces a protein with markedly reduced transcriptional activity but unaltered DNA-binding activity).		blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GCCAGGGTCTCATGCGCATCC	0.502000													14	31					0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41386406	41386406	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:41386406G>A	ENST00000301146.4	-	3	1012	c.471C>T	c.(469-471)atC>atT	p.I157I	CYP2A7_ENST00000291764.3_Silent_p.I106I|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	157						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.I157I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGATGGCCTCGATGAGGAAGC	0.662000													19	55					0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67390435	67390435	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:67390435C>T	ENST00000371026.3	-	1	135	c.80G>A	c.(79-81)gGc>gAc	p.G27D	WDR78_ENST00000371022.3_Missense_Mutation_p.G27D|WDR78_ENST00000371023.3_Missense_Mutation_p.G27D|WDR78_ENST00000431318.1_5'UTR	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	27										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTTTTTTTGGCCGCCTCTGAA	0.637000													4	150					0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	155115	155115	+	RNA	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:155115C>G	ENST00000510175.1	+	0	550							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GTCCTCAATTCTTACTAAACA	0.403000													5	43					0	0	1	0	0
HCN3	57657	broad.mit.edu	37	1	155258154	155258154	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:155258154C>T	ENST00000368358.3	+	8	2233	c.2225C>T	c.(2224-2226)tCa>tTa	p.S742L	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	742	Pro-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGCCTCCCTCAGGGCTCCTG	0.662000													22	61					0	0	1	0	0
UGT8	7368	broad.mit.edu	37	4	115544564	115544564	+	Silent	SNP	C	C	T	rs139780560	byFrequency	TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:115544564C>T	ENST00000310836.6	+	2	1050	c.528C>T	c.(526-528)taC>taT	p.Y176Y	UGT8_ENST00000394511.3_Silent_p.Y176Y	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	176					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CATTAGCATACGTCCCAGAGT	0.448000													5	118					0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167508227	167508227	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:167508227G>A	ENST00000295777.5	+	3	749	c.318G>A	c.(316-318)atG>atA	p.M106I	SERPINI1_ENST00000446050.2_Missense_Mutation_p.M106I	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	106					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						AATATGTGATGAAAATTGCCA	0.323000													12	65					0	0	1	0	0
ZNF461	92283	broad.mit.edu	37	19	37129720	37129720	+	Silent	SNP	A	A	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:37129720A>G	ENST00000588268.1	-	6	1754	c.1527T>C	c.(1525-1527)caT>caC	p.H509H	ZNF461_ENST00000360357.4_Silent_p.H486H|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAAGCTTGAATGATAGCTAA	0.383000													5	76					0	0	1	0	0
TAF1B	9014	broad.mit.edu	37	2	10008539	10008539	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:10008539C>T	ENST00000263663.5	+	6	722	c.534C>T	c.(532-534)gtC>gtT	p.V178V	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	178					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTTCCCCGTCAGCAAAGCAT	0.413000													9	36					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126735800	126735800	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:126735800C>T	ENST00000393409.2	+	16	3196	c.3196C>T	c.(3196-3198)Ctg>Ttg	p.L1066L	PLXNA1_ENST00000251772.4_Silent_p.L1043L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1066	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGGGACCCTCCTGACGGTCAC	0.632000													7	51					0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280648	105280648	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chrX:105280648G>A	ENST00000327674.4	-	1	737	c.402C>T	c.(400-402)ctC>ctT	p.L134L	SERPINA7_ENST00000372563.1_Silent_p.L134L			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	134					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGCCAATGAAGAGGGCATTTC	0.438000													7	94					0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205238143	205238143	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:205238143C>T	ENST00000358024.3	+	3	1202	c.813C>T	c.(811-813)atC>atT	p.I271I	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Silent_p.I46I|TMCC2_ENST00000329800.7_Silent_p.I31I|TMCC2_ENST00000545499.1_Silent_p.I193I	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	271						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACGGCCCCATCAGCCTGGACG	0.642000													7	87					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11562015	11562015	+	Silent	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:11562015C>G	ENST00000294484.6	+	2	1104	c.966C>G	c.(964-966)ctC>ctG	p.L322L	PTCHD2_ENST00000389575.3_Silent_p.L322L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	322					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACGAGGTGCTCAAGGATCTGC	0.592000													4	37					0	0	1	0	0
PNISR	25957	broad.mit.edu	37	6	99850503	99850503	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:99850503C>T	ENST00000369239.5	-	11	1444	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	PNISR_ENST00000438806.1_Missense_Mutation_p.E414K	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	414						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TGCCGTAATTCTTCATCATCA	0.433000													33	152					0	0	1	0	0
ALAS2	212	broad.mit.edu	37	X	55047576	55047576	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chrX:55047576C>G	ENST00000330807.5	-	5	684	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	ALAS2_ENST00000335854.4_Missense_Mutation_p.E146Q|ALAS2_ENST00000396198.3_Missense_Mutation_p.E170Q	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	183					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	ACAGATGCCTCAGAGAAATGT	0.512000													16	23					0	0	1	0	0
TMEM202	338949	broad.mit.edu	37	15	72690697	72690697	+	Silent	SNP	T	T	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr15:72690697T>C	ENST00000341689.3	+	1	84	c.30T>C	c.(28-30)acT>acC	p.T10T	TMEM202_ENST00000567679.1_Silent_p.T10T	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	10						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TAACCTTGACTTTCCACAGTC	0.448000													4	16					0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78192194	78192194	+	Splice_Site	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr13:78192194C>T	ENST00000535157.1	+	25	1671	c.1502_splice	c.e25+1	p.R501_splice	SCEL_ENST00000377246.3_Splice_Site_p.R523_splice|SCEL_ENST00000349847.3_Splice_Site_p.R543_splice	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	543	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AAACACTAATCGGTAAATGAC	0.413000													4	62					0	0	1	0	0
SLC1A4	6509	broad.mit.edu	37	2	65248227	65248227	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:65248227G>A	ENST00000234256.3	+	8	1789	c.1546G>A	c.(1546-1548)Gct>Act	p.A516T	SLC1A4_ENST00000531327.1_Missense_Mutation_p.A218T	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	516					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CCAGAACCCCGCTGGCCCCGT	0.602000													26	67					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511588	169511588	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:169511588C>T	ENST00000367796.3	-	13	2956	c.2755G>A	c.(2755-2757)Gac>Aac	p.D919N	F5_ENST00000367797.3_Missense_Mutation_p.D914N			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	914	2 X 17 AA tandem repeats.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GAACCAGTGTCTTGGCTAGGA	0.478000													21	105					0	0	1	0	0
IRF2	3660	broad.mit.edu	37	4	185309983	185309983	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:185309983C>T	ENST00000393593.3	-	9	1186	c.979G>A	c.(979-981)Gac>Aac	p.D327N		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	327					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GTCTCCCGGTCTGGCCGACTG	0.597000													4	78					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198703477	198703477	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:198703477G>A	ENST00000367376.2	+	22	2365	c.2194G>A	c.(2194-2196)Gat>Aat	p.D732N	PTPRC_ENST00000352140.3_Missense_Mutation_p.D684N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D734N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D571N|PTPRC_ENST00000348564.6_Missense_Mutation_p.D573N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	732	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGAAACTGTTGATGATTTCTG	0.348000													23	379					0	0	1	0	0
NOP14	8602	broad.mit.edu	37	4	2956205	2956205	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:2956205C>T	ENST00000416614.2	-	4	623	c.558G>A	c.(556-558)ccG>ccA	p.P186P	NOP14_ENST00000314262.6_Silent_p.P186P|NOP14_ENST00000502735.1_Silent_p.P186P|NOP14_ENST00000398071.4_Silent_p.P186P|NOP14-AS1_ENST00000503709.1_RNA			P78316	NOP14_HUMAN	NOP14 nucleolar protein	186					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TCCGGGACTTCGGTTTCTCCC	0.537000													25	86					0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59764239	59764239	+	Silent	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:59764239C>G	ENST00000361421.1	-	4	757	c.537G>C	c.(535-537)ctG>ctC	p.L179L		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	179						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TAATGGTAGTCAGCTGGCCAT	0.527000													18	39					0	0	1	0	0
MAP4K5	11183	broad.mit.edu	37	14	50901765	50901765	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:50901765C>T	ENST00000013125.4	-	26	2219	c.1901G>A	c.(1900-1902)gGa>gAa	p.G634E		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	634	CNH.				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					GTATTTATGTCCCGTGTAAGG	0.348000													11	21					0	0	1	0	0
CCDC77	84318	broad.mit.edu	37	12	518584	518584	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:518584G>A	ENST00000239830.4	+	3	214	c.35G>A	c.(34-36)aGa>aAa	p.R12K	CCDC77_ENST00000540344.1_Intron|CCDC77_ENST00000412006.2_Intron|CCDC77_ENST00000540180.1_Intron|CCDC77_ENST00000422000.1_Intron	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	12						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			CCTGTCTGCAGAAAGTAAGAC	0.358000													10	43					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167674960	167674960	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:167674960C>G	ENST00000519204.1	+	26	6771	c.6653C>G	c.(6652-6654)tCc>tGc	p.S2218C	TENM2_ENST00000403607.2_Missense_Mutation_p.S2163C|TENM2_ENST00000520394.1_Missense_Mutation_p.S2100C|TENM2_ENST00000518659.1_Missense_Mutation_p.S2339C|TENM2_ENST00000545108.1_Missense_Mutation_p.S2338C					teneurin transmembrane protein 2																		TACAATCACTCCAACTCGGAG	0.557000													8	70					0	0	1	0	0
PHYHIP	9796	broad.mit.edu	37	8	22079112	22079112	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:22079112G>C	ENST00000454243.2	-	5	1321	c.747C>G	c.(745-747)ttC>ttG	p.F249L	PHYHIP_ENST00000321613.3_Missense_Mutation_p.F249L	NM_014759.3	NP_055574.3	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	249										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GGTCGCGGCAGAAGCGGTCCC	0.632000													3	33					0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244716031	244716031	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:244716031G>C	ENST00000366534.4	+	9	998	c.944G>C	c.(943-945)aGa>aCa	p.R315T	C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366533.4_Missense_Mutation_p.R315T|C1orf101_ENST00000366531.3_Missense_Mutation_p.R164T	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	315						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			GGATTTATAAGACTGGGAGGA	0.353000													9	102					0	0	1	0	0
MRO	83876	broad.mit.edu	37	18	48333167	48333167	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr18:48333167G>A	ENST00000428869.2	-	5	411	c.153C>T	c.(151-153)ttC>ttT	p.F51F	MRO_ENST00000588444.1_Silent_p.F51F|MRO_ENST00000398439.3_Silent_p.F51F|MRO_ENST00000436348.2_Silent_p.F65F|MRO_ENST00000431965.2_Silent_p.F65F|MRO_ENST00000256425.2_Silent_p.F51F|MRO_ENST00000587291.1_Intron			Q9BYG7	MSTRO_HUMAN	maestro	51						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CTGCCAAGATGAAAAACACAT	0.483000													10	164					0	0	1	0	0
MESDC2	23184	broad.mit.edu	37	15	81274520	81274520	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr15:81274520C>T	ENST00000261758.4	-	2	303	c.217G>A	c.(217-219)Gat>Aat	p.D73N		NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	73	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						ATGTCATCATCTTTCTATCAG	0.418000													4	60					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147131221	147131221	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:147131221C>T	ENST00000282928.4	+	3	1956	c.1227C>T	c.(1225-1227)atC>atT	p.I409I		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	409	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CTCCCACCATCGTGTCTCCCT	0.617000													17	104					0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94933618	94933618	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:94933618C>G	ENST00000337425.5	-	3	858	c.784G>C	c.(784-786)Gag>Cag	p.E262Q	SERPINA9_ENST00000448305.2_Missense_Mutation_p.E164Q|SERPINA9_ENST00000546329.1_Missense_Mutation_p.E226Q|SERPINA9_ENST00000298845.7_Missense_Mutation_p.E162Q|SERPINA9_ENST00000380365.3_Missense_Mutation_p.E244Q|SERPINA9_ENST00000424550.2_Missense_Mutation_p.E113Q	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	244					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GCGAACTGCTCTTTCTGGTGC	0.522000													9	22					0	0	1	0	0
CDC16	8881	broad.mit.edu	37	13	115007715	115007715	+	Silent	SNP	C	C	T	rs145297166		TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr13:115007715C>T	ENST00000360383.3	+	6	699	c.501C>T	c.(499-501)ttC>ttT	p.F167F	CDC16_ENST00000375312.3_Silent_p.F73F|CDC16_ENST00000375308.1_Silent_p.F73F|CDC16_ENST00000252458.6_Silent_p.F73F|CDC16_ENST00000252457.5_Silent_p.F166F|CDC16_ENST00000356221.3_Silent_p.F167F|CDC16_ENST00000375310.1_Silent_p.F73F	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|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|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	p.F166F(1)		endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			TTGAAGCGTTCGATCTTTTAA	0.373000													8	97					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907292	12907292	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:12907292C>T	ENST00000317869.6	-	2	1076	c.851G>A	c.(850-852)aGa>aAa	p.R284K		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GGTGCTGTCTCTGTCATCCTC	0.453000													26	66					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6865586	6865586	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:6865586G>C	ENST00000307659.5	+	7	3932	c.3477G>C	c.(3475-3477)gaG>gaC	p.E1159D	KIAA0232_ENST00000425103.1_Missense_Mutation_p.E1159D	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1159							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AAGATGCAGAGAAAGAAGGCC	0.398000													3	73					0	0	1	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32975130	32975130	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:32975130C>G	ENST00000229829.5	-	3	646	c.571G>C	c.(571-573)Gtg>Ctg	p.V191L	HLA-DOA_ENST00000450833.2_Missense_Mutation_p.V161L	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	191	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CAGTGCTCCACCTGGCAGTCA	0.607000													7	130					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24304726	24304726	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:24304726G>C	ENST00000175238.6	+	3	267	c.184G>C	c.(184-186)Gaa>Caa	p.E62Q	ADAM7_ENST00000441335.2_Missense_Mutation_p.E62Q|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.E62Q	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	62					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ATTGTTGTATGAAATAAAACT	0.338000													4	74					0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121685717	121685717	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:121685717C>T	ENST00000369075.3	+	13	2363	c.2291C>T	c.(2290-2292)tCt>tTt	p.S764F	SEC23IP_ENST00000543134.1_Missense_Mutation_p.S553F	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	764					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)		AATTATGAATCTTTTGAAGTT	0.428000													22	129					0	0	1	0	0
TSNAX-DISC1	100303453	broad.mit.edu	37	1	231678281	231678281	+	Silent	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:231678281C>G	ENST00000602962.1	+	4	449	c.291C>G	c.(289-291)gtC>gtG	p.V97V	TSNAX_ENST00000366639.4_Silent_p.V97V|TSNAX_ENST00000602825.1_3'UTR																							TGGATGGTGTCAGACAAAAGA	0.388000													7	77					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149227000	149227000	+	Silent	SNP	A	A	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:149227000A>T	ENST00000407073.1	+	9	2485	c.1488A>T	c.(1486-1488)acA>acT	p.T496T	MBD5_ENST00000404807.1_Silent_p.T496T	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	496						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAAGGTCAACAATAGGGTCCC	0.473000													6	58					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185985316	185985316	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:185985316C>T	ENST00000271588.4	+	32	5365	c.5136C>T	c.(5134-5136)tgC>tgT	p.C1712C	HMCN1_ENST00000367492.2_Silent_p.C1712C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1712	Ig-like C2-type 14.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.C1712C(1)		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						AGTACATATGCGTGGCTACCA	0.433000													10	100					0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160905162	160905162	+	RNA	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:160905162C>T	ENST00000335388.5	-	0	965					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GCAGTCCCTTCTGTGTCTGAG	0.527000													18	95					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56473480	56473480	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:56473480C>T	ENST00000291971.3	+	4	2161	c.2090C>T	c.(2089-2091)tCt>tTt	p.S697F	NLRP8_ENST00000590542.1_Missense_Mutation_p.S697F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	697						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GACTTATGCTCTGTGTTTGCA	0.502000													25	117					0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20348713	20348713	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr16:20348713C>T	ENST00000396134.2	-	9	1862	c.1739G>A	c.(1738-1740)cGa>cAa	p.R580Q	UMOD_ENST00000396138.4_Missense_Mutation_p.R596Q|UMOD_ENST00000396142.2_Missense_Mutation_p.R547Q|UMOD_ENST00000302509.4_Missense_Mutation_p.R547Q|UMOD_ENST00000570689.1_Missense_Mutation_p.R547Q|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Missense_Mutation_p.R580Q	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	547	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.R547Q(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GACGGAAAATCGGCCCTGGGA	0.478000													9	51					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187000069	187000069	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:187000069C>T	ENST00000296795.2	+	3	621	c.517C>T	c.(517-519)Ctc>Ttc	p.L173F		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	173					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		GCTGGAAAATCTCCAAGAGCT	0.313000													5	34					0	0	1	0	0
C1QA	712	broad.mit.edu	37	1	22965523	22965523	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:22965523C>T	ENST00000374642.3	+	3	565	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	C1QA_ENST00000402322.1_Missense_Mutation_p.R121W	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	121	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTCCGCCATTCGGCGGAACCC	0.632000													4	19					0	0	1	0	0
LAPTM4B	55353	broad.mit.edu	37	8	98788011	98788011	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:98788011T>C	ENST00000445593.2	+	1	727	c.47T>C	c.(46-48)cTc>cCc	p.L16P	LAPTM4B_ENST00000521545.2_5'UTR	NM_018407.4	NP_060877.3	Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	69					transport	endomembrane system|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			CCCCGCCCCCTCCCCGTCCCC	0.701000													4	4					0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5111450	5111450	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:5111450G>A	ENST00000381759.4	+	11	1387	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	KDM4B_ENST00000536461.1_Intron|KDM4B_ENST00000159111.4_Intron			O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	393					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCCTGGAGGAGAGGCCAAAGC	0.647000													6	70					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183129093	183129093	+	Silent	SNP	G	G	A	rs148985621		TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:183129093G>A	ENST00000435564.1	-	2	350	c.150C>T	c.(148-150)gtC>gtT	p.V50V	PDE1A_ENST00000456212.1_Silent_p.V50V|PDE1A_ENST00000351439.5_Silent_p.V34V|PDE1A_ENST00000410103.1_Silent_p.V50V|PDE1A_ENST00000358139.2_Silent_p.V50V|PDE1A_ENST00000331935.6_Silent_p.V50V|PDE1A_ENST00000409365.1_Silent_p.V34V|PDE1A_ENST00000536095.1_5'UTR	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	50					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCTTTAAGTCGACGACGTTAA	0.363000													5	97					0	0	1	0	0
FAM153C	653316	broad.mit.edu	37	5	177473933	177473933	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:177473933G>A	ENST00000398106.2	+	9	787	c.334G>A	c.(334-336)Gag>Aag	p.E112K	FAM153C_ENST00000507848.1_Missense_Mutation_p.E112K|FAM153C_ENST00000511189.1_Missense_Mutation_p.E141K					family with sequence similarity 153, member C											kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAAGTGGAAGAGGAAGTGTG	0.498000													12	57					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56243715	56243715	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:56243715G>A	ENST00000332836.2	-	2	1509	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	494						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTCCAAACATGAATATCCCCA	0.473000													14	105					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50691528	50691528	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:50691528C>G	ENST00000355832.5	-	9	1934	c.1856G>C	c.(1855-1857)gGa>gCa	p.G619A	ERCC6_ENST00000542458.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	619	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GATCAAAATTCCATGACAATG	0.383000								Direct reversal of damage;Nucleotide excision repair (NER)					13	57					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57081087	57081087	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr11:57081087C>T	ENST00000532437.1	-	4	1386	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.E359K			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	359	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GGAGCCCCCTCGGCAGGGAGC	0.711000													3	7					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38754541	38754541	+	Splice_Site	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:38754541C>G	ENST00000359357.3	+	16	1999	c.1744_splice	c.e16-1	p.A582_splice	DNAH8_ENST00000441566.1_Splice_Site_p.A582_splice|DNAH8_ENST00000449981.2_Splice_Site_p.A799_splice					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						TTATTTGTAGCTTTACAAGCC	0.383000													9	25					0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170144	58170144	+	Missense_Mutation	SNP	C	C	T	rs147658237	byFrequency	TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr11:58170144C>T	ENST00000309403.2	-	1	738	c.739G>A	c.(739-741)Ggc>Agc	p.G247S		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	247			G -> A (in dbSNP:rs11229409).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TAGAAGATGCCGACTGCAATG	0.428000													8	54					0	0	1	0	0
TREML3P	340206	broad.mit.edu	37	6	41185616	41185616	+	RNA	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:41185616G>A	ENST00000564680.1	-	0	69																											GATGTCTGCTGACACCAGGAT	0.517000													12	48					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100133042	100133042	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:100133042G>A	ENST00000375202.2	+	47	5954	c.4602G>A	c.(4600-4602)atG>atA	p.M1534I	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.M1534I|CCDC180_ENST00000357054.1_Missense_Mutation_p.M1479I|CCDC180_ENST00000395220.1_3'UTR					coiled-coil domain containing 180																		TGATTAGGATGAACAAGGAGA	0.493000													5	125					0	0	1	0	0
LHX2	9355	broad.mit.edu	37	9	126794948	126794948	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:126794948C>T	ENST00000373615.4	+	5	1922	c.1183C>T	c.(1183-1185)Cac>Tac	p.H395Y		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	395				GHEPHSPSQTTLTNLF -> AMSLTAPHKRLLPTFSNDSQP PHPTISLKKKLSLV (in Ref. 1; AAB08752).		nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						CCATGAGCCTCACAGCCCCTC	0.502000													23	66					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26620493	26620493	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr11:26620493C>T	ENST00000256737.3	+	16	2471	c.1619C>T	c.(1618-1620)tCc>tTc	p.S540F	ANO3_ENST00000525139.1_Missense_Mutation_p.S524F|ANO3_ENST00000531568.1_Missense_Mutation_p.S394F|ANO3_ENST00000537978.1_Missense_Mutation_p.S524F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	540						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CATCAGCCTTCCTCAGACAAA	0.393000													5	17					0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139115873	139115873	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:139115873G>A	ENST00000358701.5	-	4	601	c.564C>T	c.(562-564)tgC>tgT	p.C188C		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	188					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CTAGGCGCGGGCAGGCAGGGG	0.547000													12	93					0	0	1	0	0
IMPA2	3613	broad.mit.edu	37	18	12012168	12012168	+	Splice_Site	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr18:12012168G>A	ENST00000269159.3	+	4	577		c.e4-1		IMPA2_ENST00000588752.1_Splice_Site|IMPA2_ENST00000589238.1_Splice_Site|IMPA2_ENST00000588927.1_Splice_Site	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2						inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	TTCCTTTGCAGATTCCCGACT	0.602000													6	129					0	0	1	0	0
CELF4	56853	broad.mit.edu	37	18	34850866	34850866	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr18:34850866G>A	ENST00000420428.2	-	8	1359	c.964C>T	c.(964-966)Ccg>Tcg	p.P322S	CELF4_ENST00000412753.1_Missense_Mutation_p.P321S|CELF4_ENST00000588597.1_Missense_Mutation_p.P311S|CELF4_ENST00000334919.5_Missense_Mutation_p.P312S|CELF4_ENST00000603232.1_Missense_Mutation_p.P321S|CELF4_ENST00000591282.1_Missense_Mutation_p.P322S|CELF4_ENST00000601019.1_Missense_Mutation_p.P320S|CELF4_ENST00000361795.5_Missense_Mutation_p.P320S|CELF4_ENST00000591287.1_Missense_Mutation_p.P321S	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	322					embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GTGATGCCCGGAGGGGTGCTG	0.622000													9	18					0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56740310	56740310	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:56740310C>T	ENST00000314128.4	-	21	1983	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Missense_Mutation_p.E650K			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	654	SH2.				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GGTATATTCTCCTCAGTGAGC	0.522000													11	77					0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58030987	58030987	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:58030987C>T	ENST00000556826.1	-	8	1560	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	SLC35F4_ENST00000554729.1_Missense_Mutation_p.E319K|SLC35F4_ENST00000339762.6_Missense_Mutation_p.E478K	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGGTGATTTCATCCCATTCC	0.507000													4	18					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61901285	61901285	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:61901285C>T	ENST00000427159.2	-	13	1827	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	394					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCTGCTTTCTCTGCTCACGCA	0.542000													6	63					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31600743	31600743	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:31600743G>A	ENST00000376033.2	+	16	4527	c.4293G>A	c.(4291-4293)agG>agA	p.R1431R	PRRC2A_ENST00000376007.4_Silent_p.R1431R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1431	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCGACAAGAGGAGCTGGCCCT	0.587000													3	23					0	0	1	0	0
DLK1	8788	broad.mit.edu	37	14	101200717	101200717	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:101200717C>T	ENST00000341267.4	+	5	878	c.636C>T	c.(634-636)tgC>tgT	p.C212C	DLK1_ENST00000331224.6_Silent_p.C212C	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	212	EGF-like 6.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				TGACCAACTGCGCCAGCAGCC	0.657000													16	49					0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24529918	24529918	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:24529918C>A	ENST00000342740.5	+	25	2297	c.2143C>A	c.(2143-2145)Cta>Ata	p.L715I	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	715										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GCAGGATGAGCTACTCTACGC	0.627000													8	28					5.18039e-06	5.38192e-06	1	1	0
CYP4F12	66002	broad.mit.edu	37	19	15807845	15807845	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:15807845G>A	ENST00000550308.1	+	13	1905	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	CYP4F12_ENST00000324632.9_Missense_Mutation_p.E509K	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CATGCGCGCCGAGGGCGGGCT	0.562000													5	88					0	0	1	0	0
ZNF383	163087	broad.mit.edu	37	19	37734227	37734227	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:37734227G>A	ENST00000589413.1	+	8	1672	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E	ZNF383_ENST00000590503.1_Silent_p.E363E|ZNF383_ENST00000352998.3_Silent_p.E363E			Q8NA42	ZN383_HUMAN	zinc finger protein 383	363					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)			ACACTGGTGAGAAACCCTATG	0.433000													4	74					0	0	1	0	0
POLR3D	661	broad.mit.edu	37	8	22105694	22105694	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:22105694C>T	ENST00000397802.4	+	4	604	c.389C>T	c.(388-390)tCa>tTa	p.S130L	POLR3D_ENST00000306433.4_Missense_Mutation_p.S130L			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	130					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GTGGATGTGTCAGACATGGGA	0.463000													5	59					0	0	1	0	0
CIRBP	1153	broad.mit.edu	37	19	1271376	1271376	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:1271376G>A	ENST00000444172.2	+	3	234	c.100G>A	c.(100-102)Gac>Aac	p.D34N	CIRBP_ENST00000589660.1_Missense_Mutation_p.D87N|CIRBP_ENST00000591935.1_Missense_Mutation_p.D87N|CIRBP_ENST00000587896.1_Missense_Mutation_p.D87N|CIRBP_ENST00000587323.1_Missense_Mutation_p.D87N|CIRBP_ENST00000586773.1_Missense_Mutation_p.D87N|CIRBP_ENST00000588230.1_Missense_Mutation_p.D87N|CIRBP_ENST00000586472.1_Missense_Mutation_p.D87N|CIRBP_ENST00000589686.1_Missense_Mutation_p.D87N|CIRBP_ENST00000320936.5_Missense_Mutation_p.D87N|CIRBP_ENST00000585630.1_Missense_Mutation_p.D87N|CIRBP_ENST00000588030.1_Missense_Mutation_p.D87N|CIRBP_ENST00000588090.1_Missense_Mutation_p.D87N|CIRBP_ENST00000413636.2_Intron|CIRBP_ENST00000589710.1_Missense_Mutation_p.D87N|CIRBP_ENST00000589235.1_Missense_Mutation_p.D87N			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	87	RRM.				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		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)		CAAGTCGTCAGACAACCGATC	0.662000													6	142					0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201845150	201845150	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:201845150G>C	ENST00000361565.4	+	24	3163	c.3094G>C	c.(3094-3096)Gag>Cag	p.E1032Q		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	1032					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TAATGACAATGAGAGGCGAGT	0.507000											OREG0014090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	276					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57963439	57963439	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:57963439G>T	ENST00000455537.2	+	11	1364	c.1090G>T	c.(1090-1092)Gag>Tag	p.E364*	KIF5A_ENST00000286452.5_Nonsense_Mutation_p.E275*	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	364					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TGCGAAGCTGGAGGCTGAGCT	0.532000													4	58					0.00024832	0.000254486	1	1	0
CSH2	1443	broad.mit.edu	37	17	61949591	61949591	+	Silent	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:61949591G>C	ENST00000392886.2	-	5	700	c.549C>G	c.(547-549)ctC>ctG	p.L183L	CSH2_ENST00000345366.7_Silent_p.L88L|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Silent_p.L126L	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	183					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						CGTAGTTCTTGAGCAGTGCGT	0.562000													4	183					0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202900720	202900720	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:202900720C>T	ENST00000286201.1	+	1	1411	c.1350C>T	c.(1348-1350)atC>atT	p.I450I		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	450					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TCTTCCGTATCCGCACCATCA	0.612000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	89					0	0	1	0	0
STARD3	10948	broad.mit.edu	37	17	37813286	37813286	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:37813286T>G	ENST00000336308.5	+	3	463	c.245T>G	c.(244-246)tTg>tGg	p.L82W	STARD3_ENST00000544210.2_Missense_Mutation_p.L82W|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000580611.1_Intron|STARD3_ENST00000394250.4_Missense_Mutation_p.L82W	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	82	MENTAL.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGTAAGAACTTGGAGCAGGAG	0.572000													9	75					0	0	1	0	0
MLLT4-AS1	653483	broad.mit.edu	37	6	168226588	168226588	+	RNA	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:168226588G>A	ENST00000359760.5	-	0	801					NR_027906.1																						GTCCCCTGCTGAGCCTAGCAC	0.721000													7	160					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953283	56953283	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:56953283C>T	ENST00000504904.3	-	7	1800	c.1081G>A	c.(1081-1083)Gat>Aat	p.D361N	ZNF667_ENST00000292069.6_Missense_Mutation_p.D361N|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.D489N			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TCACATTTATCACATTTGTAC	0.358000													13	57					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634795	70634795	+	Silent	SNP	C	C	T	rs144094259		TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:70634795C>T	ENST00000381269.2	-	2	1098	c.345G>A	c.(343-345)aaG>aaA	p.K115K	SLC8A3_ENST00000356921.2_Silent_p.K115K|SLC8A3_ENST00000528359.1_Silent_p.K115K|SLC8A3_ENST00000357887.3_Silent_p.K115K|SLC8A3_ENST00000534137.1_Silent_p.K115K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	115					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)		CATTGGGTTTCTTAATTGTCA	0.493000													7	29					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133948723	133948723	+	Missense_Mutation	SNP	G	G	A	rs139686578		TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr7:133948723G>A	ENST00000285928.2	+	20	2543	c.2474G>A	c.(2473-2475)aGg>aAg	p.R825K		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	825							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CAGGGCCGCAGGTAGACTAGC	0.532000													3	35					0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96388581	96388581	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:96388581C>T	ENST00000261208.3	-	4	699	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	HAL_ENST00000538703.1_Missense_Mutation_p.E111K|HAL_ENST00000541929.1_5'UTR	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	111					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CTTACCTTTTCAGGCTCCCGG	0.468000													6	117					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179427038	179427038	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:179427038C>T	ENST00000589042.1	-	326	84045	c.83821G>A	c.(83821-83823)Gaa>Aaa	p.E27941K	TTN_ENST00000342992.6_Missense_Mutation_p.E25373K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19001K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E26300K|TTN_ENST00000342175.6_Missense_Mutation_p.E19068K|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E18876K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26300	Fibronectin type-III 103.						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)			CTTCCCTTTTCGTTAACTGCA	0.418000													4	58					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186969535	186969535	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:186969535C>G	ENST00000337774.5	-	7	1287	c.898G>C	c.(898-900)Gag>Cag	p.E300Q	MASP1_ENST00000392472.2_Missense_Mutation_p.E187Q|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Missense_Mutation_p.E274Q|MASP1_ENST00000296280.6_Missense_Mutation_p.E300Q|MASP1_ENST00000169293.6_Missense_Mutation_p.E300Q	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	300	Sushi 1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TCTGGGCACTCATTTCCTGGT	0.493000													7	97					0	0	1	0	0
GKAP1	80318	broad.mit.edu	37	9	86357454	86357454	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:86357454G>A	ENST00000376371.2	-	11	1366	c.966C>T	c.(964-966)ctC>ctT	p.L322L	GKAP1_ENST00000376362.1_5'UTR|GKAP1_ENST00000376365.3_Silent_p.L271L	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	322					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						CCTGAATAGTGAGCTCATTCT	0.348000													4	77					0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785373	12785373	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:12785373C>G	ENST00000332530.3	+	3	479	c.253C>G	c.(253-255)Ctg>Gtg	p.L85V	AADACL3_ENST00000359318.5_Missense_Mutation_p.L155V	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	155							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGCCAGATCTGCCCCGGAT	0.542000													38	145					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964423	94964423	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:94964423G>A	ENST00000341228.2	-	3	1107	c.312C>T	c.(310-312)ttC>ttT	p.F104F	SERPINA12_ENST00000556881.1_Silent_p.F104F	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	104					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GCATCTTTCTGAAGTTGAACC	0.522000													20	77					0	0	1	0	0
NOL10	79954	broad.mit.edu	37	2	10729399	10729399	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:10729399C>T	ENST00000345985.3	-	18	1574	c.1464G>A	c.(1462-1464)ccG>ccA	p.P488P	AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000542668.1_Silent_p.P488P|NOL10_ENST00000381685.5_Silent_p.P538P|NOL10_ENST00000538384.1_Silent_p.P512P	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	538						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		GTTTTCCTTCCGGCTCTTCCT	0.502000													12	55					0	0	1	0	0
CD36	948	broad.mit.edu	37	7	80292364	80292364	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr7:80292364A>G	ENST00000435819.1	+	9	1172	c.488A>G	c.(487-489)aAc>aGc	p.N163S	CD36_ENST00000433696.2_Missense_Mutation_p.N163S|CD36_ENST00000447544.2_Missense_Mutation_p.N163S|CD36_ENST00000394788.3_Missense_Mutation_p.N163S|CD36_ENST00000432207.1_Missense_Mutation_p.N163S|CD36_ENST00000544133.1_Missense_Mutation_p.N163S|CD36_ENST00000309881.7_Missense_Mutation_p.N163S|CD36_ENST00000538969.1_Intron|CD36_ENST00000534394.1_Missense_Mutation_p.N87S			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	163					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TCACTTATTAACAAGTCAAAA	0.348000													3	42					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227662077	227662077	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:227662077C>T	ENST00000305123.4	-	1	2398	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	460					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTTAGCTCCTCCTCACCGCGG	0.622000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	92					0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10397777	10397777	+	Missense_Mutation	SNP	G	G	A	rs56314906		TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:10397777G>A	ENST00000393717.2	+	1	98	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_Missense_Mutation_p.R30Q|ICAM4_ENST00000340992.4_Missense_Mutation_p.R30Q	NM_022377.3	NP_071772.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	30					cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CGGACTAAGCGGGCGCAAAGC	0.667000													5	13					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996198	57996198	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr11:57996198G>C	ENST00000316770.2	-	1	192	c.150C>G	c.(148-150)atC>atG	p.I50M		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				ACACCACCCAGATGATGGCTG	0.532000													4	83					0	0	1	0	0
DHRS11	79154	broad.mit.edu	37	17	34955437	34955437	+	Silent	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:34955437G>C	ENST00000251312.5	+	4	752	c.540G>C	c.(538-540)ctG>ctC	p.L180L	DHRS11_ENST00000590554.1_Silent_p.L101L	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	180						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						CAGAGGGACTGAGGCAAGAGC	0.642000													3	64					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11299820	11299820	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:11299820G>A	ENST00000379261.4	+	5	594	c.502G>A	c.(502-504)Gat>Aat	p.D168N	CELF2_ENST00000399850.3_Missense_Mutation_p.D144N|CELF2_ENST00000537122.1_Missense_Mutation_p.D57N|CELF2_ENST00000315874.3_Missense_Mutation_p.D144N|CELF2_ENST00000416382.2_Missense_Mutation_p.D168N|CELF2_ENST00000542579.1_Missense_Mutation_p.D175N|CELF2_ENST00000354897.3_Missense_Mutation_p.D144N|CELF2_ENST00000354440.2_Missense_Mutation_p.D144N|CELF2_ENST00000450189.1_Missense_Mutation_p.D175N|CELF2_ENST00000427450.1_Missense_Mutation_p.D144N|CELF2_ENST00000417956.2_Missense_Mutation_p.D144N	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	168	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CCGGGGACCTGATGGGCTGAG	0.512000													6	71					0	0	1	0	0
GORASP2	26003	broad.mit.edu	37	2	171806194	171806194	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:171806194G>A	ENST00000234160.4	+	3	1105	c.290G>A	c.(289-291)gGa>gAa	p.G97E	GORASP2_ENST00000452526.2_Missense_Mutation_p.G109E|GORASP2_ENST00000493692.1_3'UTR	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	97						Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						GGCTTATTGGGAGTGAGCATT	0.468000													8	162					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37008732	37008732	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:37008732C>G	ENST00000282516.8	+	20	4827	c.4328C>G	c.(4327-4329)tCa>tGa	p.S1443*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.S1443*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1443					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAGGTATTCTCAAGATATGAA	0.274000													7	68					0	0	1	0	0
CDC7	8317	broad.mit.edu	37	1	91978660	91978660	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:91978660G>A	ENST00000428239.1	+	7	877	c.618G>A	c.(616-618)acG>acA	p.T206T	CDC7_ENST00000234626.6_Silent_p.T206T|CDC7_ENST00000430031.2_Silent_p.T178T	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	206	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CCCATGATACGAAAATAGAGC	0.383000													7	32					0	0	1	0	0
APOO	79135	broad.mit.edu	37	X	23897088	23897088	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chrX:23897088C>G	ENST00000379226.4	-	3	412	c.181G>C	c.(181-183)Gaa>Caa	p.E61Q	APOO_ENST00000379220.3_Missense_Mutation_p.E61Q	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	61					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						ATGCTTTCTTCAAGCTGGCTC	0.443000													6	32					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	224490	224490	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:224490C>T	ENST00000264932.6	+	3	281	c.166C>T	c.(166-168)Cca>Tca	p.P56S	SDHA_ENST00000504309.1_Missense_Mutation_p.P56S|SDHA_ENST00000510361.1_Missense_Mutation_p.P56S	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	56					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TGCTCAGTATCCAGTAGTGGA	0.453000									Familial Paragangliomas				32	236					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57011988	57011988	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:57011988C>G	ENST00000370706.4	+	10	1349	c.1105C>G	c.(1105-1107)Caa>Gaa	p.Q369E	RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.Q369E|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.Q369E	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AGATTGCAATCAAGTCTTTGT	0.408000													4	65					0	0	1	0	0
CPNE1	8904	broad.mit.edu	37	20	34215283	34215283	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr20:34215283G>A	ENST00000317619.3	-	16	1549	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L	CPNE1_ENST00000397442.1_Silent_p.L385L|CPNE1_ENST00000317677.5_Silent_p.L390L|CPNE1_ENST00000397446.1_Silent_p.L385L|CPNE1_ENST00000397445.1_Silent_p.L385L|CPNE1_ENST00000397443.1_Silent_p.L385L|CPNE1_ENST00000352393.4_Silent_p.L385L			Q99829	CPNE1_HUMAN	copine I	385	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TAGGGCCATAGAGGCGAACTT	0.582000													13	69					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59323531	59323531	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr15:59323531G>C	ENST00000348370.4	+	2	943	c.510G>C	c.(508-510)ttG>ttC	p.L170F	RNF111_ENST00000557998.1_Missense_Mutation_p.L170F|RNF111_ENST00000434298.1_Missense_Mutation_p.L170F|RNF111_ENST00000561186.1_Missense_Mutation_p.L170F|RNF111_ENST00000559209.1_Missense_Mutation_p.L170F	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	170					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AGACCATTTTGAATGCTAAAA	0.413000													4	76					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10102491	10102491	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:10102491C>T	ENST00000264828.3	-	23	2005	c.1920G>A	c.(1918-1920)ccG>ccA	p.P640P		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	640	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTGCTGTCCCGGAGGGCCTG	0.557000													4	85					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52725391	52725391	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:52725391C>T	ENST00000322088.6	+	13	1616	c.1558C>T	c.(1558-1560)Cac>Tac	p.H520Y	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.H465Y|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.H341Y	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	520	PP2A subunit C binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CACCACCAAGCACATGCTACC	0.582000			Mis		clear cell ovarian carcinoma								6	17					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155317589	155317589	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:155317589C>G	ENST00000368346.3	-	20	8315	c.7676G>C	c.(7675-7677)gGa>gCa	p.G2559A	ASH1L_ENST00000392403.3_Missense_Mutation_p.G2554A			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2559					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGCTGTCTCTCCCACAATCTC	0.507000													4	121					0	0	1	0	0
HTR1B	3351	broad.mit.edu	37	6	78172128	78172128	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:78172128G>A	ENST00000369947.2	-	1	1362	c.993C>T	c.(991-993)ttC>ttT	p.F331F		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	331					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GGGAGATGATGAAGAAGGGTA	0.498000													22	108					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335514	42335514	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:42335514C>T	ENST00000262418.6	-	11	1277	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	374					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCTGGCCTGTCTGCTGCAGAG	0.602000													4	128					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111297947	111297947	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:111297947G>C	ENST00000352690.4	+	4	857	c.617G>C	c.(616-618)aGa>aCa	p.R206T	CD96_ENST00000438817.2_Missense_Mutation_p.R206T|CD96_ENST00000283285.5_Missense_Mutation_p.R222T	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	222	Ig-like V-type 2.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CTTAAAGATAGAGTCAAGCTT	0.423000									Opitz Trigonocephaly syndrome				12	85					0	0	1	0	0
KLF6	1316	broad.mit.edu	37	10	3827192	3827192	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:3827192G>A	ENST00000497571.1	-	1	275	c.15C>T	c.(13-15)ccC>ccT	p.P5P	KLF6_ENST00000469435.1_Silent_p.P5P|KLF6_ENST00000542957.1_Silent_p.P5P	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	5					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		TGCTGCACATGGGGAGCACGT	0.687000													13	37					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123768322	123768322	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:123768322C>T	ENST00000223642.1	-	20	2466	c.2437G>A	c.(2437-2439)Gat>Aat	p.D813N	C5_ENST00000466280.1_5'UTR	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	813					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TTGACAGTATCAGCAACACAT	0.343000													12	50					0	0	1	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31798059	31798059	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr21:31798059C>T	ENST00000390690.2	-	1	227	c.172G>A	c.(172-174)Gag>Aag	p.E58K		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	58	5 X 10 AA approximate repeats.					intermediate filament		p.E58K(1)		endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						CAGCAGGTCTCCTGACAGCCC	0.587000													15	64					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87144696	87144696	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr7:87144696G>A	ENST00000265724.3	-	26	3550	c.3133C>T	c.(3133-3135)Ccc>Tcc	p.P1045S	ABCB1_ENST00000543898.1_Missense_Mutation_p.P981S|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1045	ABC transporter 2.				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)	GGTCGGGTGGGATAGTTGAAT	0.483000													5	33					0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105609285	105609285	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:105609285G>A	ENST00000331782.3	-	26	3867	c.3464C>T	c.(3463-3465)aCg>aTg	p.T1155M	JAG2_ENST00000347004.2_Missense_Mutation_p.T1117M	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1155					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		cggcggcggcgTGAAGTTCTT	0.721000													4	29					0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89922592	89922592	+	Silent	SNP	C	C	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr16:89922592C>A	ENST00000378247.3	+	7	1093	c.1050C>A	c.(1048-1050)atC>atA	p.I350I	SPIRE2_ENST00000393062.2_Silent_p.I350I	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	350	WH2 3.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TGGAGGAGATCAAGCAGGAGC	0.692000													7	17					8.12818e-05	8.38681e-05	1	1	0
ZC3H13	23091	broad.mit.edu	37	13	46619638	46619638	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr13:46619638G>C	ENST00000242848.4	-	2	353	c.5C>G	c.(4-6)tCa>tGa	p.S2*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.S2*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	2							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCTAATTTTTGACATTTTGTA	0.383000													19	92					0	0	1	0	0
PDE4D	5144	broad.mit.edu	37	5	58273018	58273018	+	Splice_Site	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:58273018G>A	ENST00000340635.6	-	12	1882	c.1707_splice	c.e12+1	p.I569_splice	PDE4D_ENST00000503258.1_Splice_Site_p.I439_splice|PDE4D_ENST00000502484.2_Splice_Site_p.I508_splice|PDE4D_ENST00000546160.1_Splice_Site_p.I508_splice|PDE4D_ENST00000358923.6_Splice_Site_p.I267_splice|PDE4D_ENST00000317118.8_Splice_Site_p.I278_splice|PDE4D_ENST00000507116.1_Splice_Site_p.I505_splice|PDE4D_ENST00000360047.5_Splice_Site_p.I433_splice|PDE4D_ENST00000405755.2_Splice_Site_p.I447_splice	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	569					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AGCTACTTACGATGTCAATGA	0.338000													5	57					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215914773	215914773	+	Silent	SNP	A	A	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:215914773A>T	ENST00000366943.2	-	60	12041	c.11655T>A	c.(11653-11655)atT>atA	p.I3885I	USH2A_ENST00000307340.3_Silent_p.I3885I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3885	Fibronectin type-III 24.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCATCCACTTAATCTCTATGC	0.388000										HNSCC(13;0.011)			16	82					0	0	1	0	0
SLC17A7	57030	broad.mit.edu	37	19	49934296	49934296	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:49934296G>A	ENST00000221485.3	-	11	1536	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	SLC17A7_ENST00000600601.1_Silent_p.I388I|SLC17A7_ENST00000543531.1_Silent_p.I443I	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	455					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TGGCCCCCACGATGATGGGGC	0.607000													8	21					0	0	1	0	0
P2RY13	53829	broad.mit.edu	37	3	151045839	151045839	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:151045839C>T	ENST00000325602.5	-	2	1024	c.1005G>A	c.(1003-1005)aaG>aaA	p.K335K	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	335						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			ATGCTGTGGTCTTTCTCCCTT	0.363000													23	128					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41181638	41181638	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:41181638C>G	ENST00000263413.3	-	7	1014	c.750G>C	c.(748-750)ttG>ttC	p.L250F	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.L250F	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	250	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AATCTGTTTTCAAGTCATCTT	0.358000													3	32					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023548	18023548	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:18023548C>T	ENST00000205890.5	+	2	1772	c.1434C>T	c.(1432-1434)cgC>cgT	p.R478R		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	478	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCAAGTTCCGCCTCTTCCCGC	0.647000													7	36					0	0	1	0	0
TMEM184C	55751	broad.mit.edu	37	4	148555370	148555370	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:148555370G>C	ENST00000296582.3	+	10	1676	c.1102G>C	c.(1102-1104)Gat>Cat	p.D368H	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	368						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CGAGGATCAAGATCAAAATGA	0.363000													14	54					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423159	56423159	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:56423159G>A	ENST00000588751.1	-	5	2048	c.2024C>T	c.(2023-2025)tCa>tTa	p.S675L	NLRP13_ENST00000342929.3_Missense_Mutation_p.S675L			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	675							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TAGGCAAAATGAAGAAGCTTG	0.403000													33	122					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179734020	179734020	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:179734020C>T	ENST00000420890.2	-	15	2335	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E165K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	165							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TACTGAACCTCATCATTCAAT	0.328000													3	20					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25226976	25226976	+	RNA	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr15:25226976G>A	ENST00000551631.2	+	0	279					NR_001293.1																						AAGGAAGAGAGAATCAGATCG	0.388000													8	12					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50860836	50860836	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr12:50860836G>C	ENST00000398473.2	+	13	1590	c.1478G>C	c.(1477-1479)aGa>aCa	p.R493T	LARP4_ENST00000429001.3_Missense_Mutation_p.R499T|LARP4_ENST00000293618.8_Missense_Mutation_p.R422T|LARP4_ENST00000518444.1_Missense_Mutation_p.R492T|LARP4_ENST00000347328.5_Missense_Mutation_p.R422T	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	493							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AGTTCATCAAGAATGCCAGGT	0.398000													12	48					0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506175	178506175	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:178506175G>A	ENST00000315475.6	+	5	1048	c.742G>A	c.(742-744)Gag>Aag	p.E248K		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		CAAATGTAATGAGTGTGAAAA	0.388000													14	42					0	0	1	0	0
GEMIN4	50628	broad.mit.edu	37	17	650962	650962	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:650962G>C	ENST00000576778.1	-	1	1629	c.288C>G	c.(286-288)atC>atG	p.I96M	GEMIN4_ENST00000437269.1_Missense_Mutation_p.I107M|GEMIN4_ENST00000319004.5_Missense_Mutation_p.I107M			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	107					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGGTGTGGTTGATGGTGGGGA	0.592000													11	31					0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180163463	180163463	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:180163463G>A	ENST00000367602.3	+	11	1478	c.1404G>A	c.(1402-1404)ggG>ggA	p.G468G	QSOX1_ENST00000367600.5_Silent_p.G468G			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	468	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACCGGGTGGGGAGTCCCAACG	0.617000													11	54					0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23438121	23438121	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr22:23438121C>T	ENST00000248996.4	+	2	905	c.239C>T	c.(238-240)tCg>tTg	p.S80L	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	80						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	p.S80L(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GCCATCGACTCGCTGACCCGC	0.617000													10	272					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26906474	26906474	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:26906474C>A	ENST00000321765.5	-	18	3246	c.2914G>T	c.(2914-2916)Gaa>Taa	p.E972*		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	972					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ATACTCATTTCTGCCAGGCTC	0.483000													6	129					0.217242	0.217722	1	1	0
TNNT2	7139	broad.mit.edu	37	1	201334430	201334430	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:201334430G>C	ENST00000509001.1	-	9	556	c.270C>G	c.(268-270)atC>atG	p.I90M	TNNT2_ENST00000236918.7_Missense_Mutation_p.I95M|TNNT2_ENST00000367315.2_Missense_Mutation_p.I90M|TNNT2_ENST00000360372.4_Missense_Mutation_p.I85M|TNNT2_ENST00000421663.2_Missense_Mutation_p.I92M|TNNT2_ENST00000458432.2_Missense_Mutation_p.I102M|TNNT2_ENST00000367317.4_Missense_Mutation_p.I90M|TNNT2_ENST00000367318.5_Missense_Mutation_p.I90M|TNNT2_ENST00000367320.2_Intron|TNNT2_ENST00000367322.1_Missense_Mutation_p.I90M	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	100					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						GCTTCCGGTGGATGTCCTGTG	0.577000													6	124					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170175357	170175357	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:170175357C>T	ENST00000263816.3	-	3	510	c.225G>A	c.(223-225)caG>caA	p.Q75Q	LRP2_ENST00000443831.1_Silent_p.Q75Q	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	75	LDL-receptor class A 2.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTCCCTCACTCTGGCACTTGA	0.463000													4	58					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7182275	7182275	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:7182275C>G	ENST00000379938.2	+	4	668	c.131C>G	c.(130-132)tCg>tGg	p.S44W	RREB1_ENST00000379933.3_Missense_Mutation_p.S44W|RREB1_ENST00000349384.6_Missense_Mutation_p.S44W|RREB1_ENST00000334984.6_Missense_Mutation_p.S44W	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	44					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AAGTCCCCCTCGAAGCCTCCA	0.542000													11	37					0	0	1	0	0
CYP2D6	1565	broad.mit.edu	37	22	42525806	42525806	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr22:42525806C>T	ENST00000360608.5	-	2	400	c.286G>A	c.(286-288)Gag>Aag	p.E96K	CYP2D6_ENST00000389970.3_Missense_Mutation_p.E96K|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.E96K|NDUFA6-AS1_ENST00000416037.1_RNA	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	96							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCGGTGTCCTCGCCGTGGGTC	0.701000													8	21					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52901891	52901891	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr18:52901891G>A	ENST00000354452.3	-	16	1985	c.1374C>T	c.(1372-1374)ggC>ggT	p.G458G	TCF4_ENST00000540999.1_Silent_p.G434G|TCF4_ENST00000565018.2_Silent_p.G458G|TCF4_ENST00000398339.1_Silent_p.G560G|TCF4_ENST00000564999.1_Silent_p.G458G|TCF4_ENST00000543082.1_Silent_p.G416G|TCF4_ENST00000564228.1_Silent_p.G387G|TCF4_ENST00000566279.1_Silent_p.G398G|TCF4_ENST00000567880.1_Silent_p.G398G|TCF4_ENST00000568673.1_Silent_p.G434G|TCF4_ENST00000537856.3_Silent_p.G328G|TCF4_ENST00000537578.1_Silent_p.G434G|TCF4_ENST00000561831.3_Silent_p.G298G|TCF4_ENST00000570287.2_Silent_p.G298G|TCF4_ENST00000561992.1_Silent_p.G328G|TCF4_ENST00000356073.4_Silent_p.G458G|TCF4_ENST00000568740.1_Silent_p.G433G|TCF4_ENST00000570177.2_Silent_p.G328G|TCF4_ENST00000564403.2_Silent_p.G464G|TCF4_ENST00000566286.1_Silent_p.G455G|TCF4_ENST00000457482.3_Silent_p.G298G|TCF4_ENST00000544241.2_Silent_p.G387G	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	458					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TCAGGGCCACGCCATCTTCAC	0.602000											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	103					0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38345085	38345085	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:38345085C>T	ENST00000374618.3	+	5	2211	c.2033C>T	c.(2032-2034)tCa>tTa	p.S678L	ZNF33A_ENST00000458705.2_Missense_Mutation_p.S677L|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.S684L|ZNF33A_ENST00000307441.9_Missense_Mutation_p.S677L	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	677						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TGTGTAAAATCAGGACTTATT	0.388000													14	79					0	0	1	0	0
ZFP28	140612	broad.mit.edu	37	19	57066551	57066551	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:57066551C>T	ENST00000301318.3	+	8	2468	c.2397C>T	c.(2395-2397)caC>caT	p.H799H	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	799					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AAATTGGACACCTTAATCAAC	0.373000													29	114					0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59548551	59548551	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr15:59548551G>C	ENST00000288235.4	-	4	663	c.264C>G	c.(262-264)atC>atG	p.I88M	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	88	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CAAGGGCATAGATATGTGGTG	0.323000													3	45					0	0	1	0	0
C14orf177	283598	broad.mit.edu	37	14	99182606	99182606	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:99182606G>A	ENST00000325812.2	+	3	497	c.78G>A	c.(76-78)ccG>ccA	p.P26P		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	26										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				GAACAAAGCCGATGATCACAC	0.552000													5	46					0	0	1	0	0
HSPB11	51668	broad.mit.edu	37	1	54387376	54387376	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:54387376G>A	ENST00000194214.5	-	6	772	c.383C>T	c.(382-384)tCt>tTt	p.S128F	HSPB11_ENST00000371378.2_Intron|HSPB11_ENST00000489675.1_5'UTR	NM_016126.2	NP_057210.2	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	128					cell adhesion|response to stress					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						GCTATGCACAGATGCAAAATG	0.338000													4	87					0	0	1	0	0
LBX2	85474	broad.mit.edu	37	2	74729884	74729884	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:74729884C>T	ENST00000460508.3	-	1	559	c.103G>A	c.(103-105)Gca>Aca	p.A35T	LBX2_ENST00000550249.1_Intron|LBX2_ENST00000341396.2_Intron|LBX2-AS1_ENST00000548978.2_RNA|LBX2-AS1_ENST00000603175.1_RNA	NM_001009812.1	NP_001009812.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	33						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						CCCGGGCGTGCGGGCCGGGAA	0.627000													4	96					0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	154713	154713	+	RNA	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:154713C>G	ENST00000510175.1	+	0	148							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TGTGTGTTCTCATTTCACCCA	0.358000													11	67					0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378678	31378678	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr7:31378678C>G	ENST00000297142.3	-	2	527	c.205G>C	c.(205-207)Gat>Cat	p.D69H		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	69					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CCAttttcatcttcctcttcc	0.478000													39	145					0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41953048	41953048	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr3:41953048G>A	ENST00000301831.4	-	10	1462	c.1000C>T	c.(1000-1002)Cac>Tac	p.H334Y	ULK4_ENST00000420927.1_Missense_Mutation_p.H334Y	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	334							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTGAAAGAGTGACCTAGTGGT	0.403000													5	74					0	0	1	0	0
MCCC2	64087	broad.mit.edu	37	5	70922470	70922470	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:70922470G>A	ENST00000340941.6	+	7	757	c.628G>A	c.(628-630)Gca>Aca	p.A210T	MCCC2_ENST00000323375.8_Intron|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000509358.2_Missense_Mutation_p.A210T	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	210	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	ATTCCAGATCGCAGTGGTCAT	0.512000													5	23					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62289870	62289870	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr11:62289870C>G	ENST00000378024.4	-	5	12293	c.12019G>C	c.(12019-12021)Gat>Cat	p.D4007H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4007					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGATGCAAATCAAAGTCAGGC	0.468000													62	228					0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192700958	192700958	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:192700958C>T	ENST00000304141.4	-	2	1298	c.969G>A	c.(967-969)caG>caA	p.Q323Q		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	323						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CATTTGGCATCTGCTCACTGC	0.552000													22	88					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45269014	45269014	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:45269014G>A	ENST00000372201.4	+	8	1262	c.1023G>A	c.(1021-1023)agG>agA	p.R341R	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	341						membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ACCCAGCTAGGAGTCTGTTTG	0.572000													12	40					0	0	1	0	0
TPBG	7162	broad.mit.edu	37	6	83075264	83075264	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:83075264G>C	ENST00000369750.3	+	2	1203	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	TPBG_ENST00000543496.1_Missense_Mutation_p.E196Q|TPBG_ENST00000535040.1_Missense_Mutation_p.E196Q			Q13641	TPBG_HUMAN	trophoblast glycoprotein	196					cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CCGGAGCTTCGAGGGCATGGT	0.667000													8	149					0	0	1	0	0
LETM1	3954	broad.mit.edu	37	4	1818565	1818565	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:1818565C>A	ENST00000302787.2	-	12	2116	c.1820G>T	c.(1819-1821)aGa>aTa	p.R607I		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	607					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TTTTGTCAATCTCTTGCTGGC	0.478000													9	84					0.00448238	0.00455257	1	1	0
CDC42EP1	11135	broad.mit.edu	37	22	37964177	37964177	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr22:37964177G>A	ENST00000249014.4	+	3	946	c.526G>A	c.(526-528)Gac>Aac	p.D176N		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	176					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GCATGACCGAGACCGGGATGG	0.642000													5	146					0	0	1	0	0
SOBP	55084	broad.mit.edu	37	6	107827579	107827579	+	Silent	SNP	T	T	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:107827579T>C	ENST00000317357.5	+	3	1028	c.369T>C	c.(367-369)agT>agC	p.S123S		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	123							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		ATCATGGCAGTGTGCCCATTA	0.428000													11	215					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152749342	152749342	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:152749342C>A	ENST00000367255.5	-	37	5575	c.4974G>T	c.(4972-4974)caG>caT	p.Q1658H	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q1665H|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q1658H|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q1728H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q1665H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q1658H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1658					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGCTCACCTCTGCCAGTGGG	0.507000										HNSCC(10;0.0054)			14	320					0.00185496	0.00188823	1	1	0
GTF3C4	9329	broad.mit.edu	37	9	135554902	135554902	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:135554902G>A	ENST00000372146.4	+	2	2460	c.1896G>A	c.(1894-1896)gtG>gtA	p.V632V		NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	632					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		AACAGGTGGTGAAGCAAGGCC	0.552000													8	92					0	0	1	0	0
RPP40	10799	broad.mit.edu	37	6	5002435	5002435	+	Silent	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:5002435C>G	ENST00000380051.2	-	2	212	c.168G>C	c.(166-168)ctG>ctC	p.L56L	RPP40_ENST00000464646.1_5'UTR|RPP40_ENST00000319533.5_Silent_p.L56L	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	56					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CCAGGTTTTTCAGTTCTTCCG	0.363000													11	51					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26569987	26569987	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:26569987C>G	ENST00000376261.3	+	12	1710	c.1207C>G	c.(1207-1209)Cag>Gag	p.Q403E	GAD2_ENST00000259271.3_Missense_Mutation_p.Q403E	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	403					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	AGTCCCTTTGCAGTGCTCTGC	0.507000													14	73					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529604	80529604	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:80529604G>A	ENST00000295057.3	-	2	1997	c.1341C>T	c.(1339-1341)taC>taT	p.Y447Y	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.Y447Y|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	447						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TCCAGGACACGTAGAGCACCA	0.592000										HNSCC(69;0.2)			12	54					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69136817	69136817	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:69136817G>A	ENST00000288368.4	+	39	5008	c.4731G>A	c.(4729-4731)gcG>gcA	p.A1577A		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1577					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAACACAGCGAAGAATTTGG	0.458000													4	54					0	0	1	0	0
MEF2C	4208	broad.mit.edu	37	5	88056883	88056883	+	Silent	SNP	T	T	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:88056883T>C	ENST00000340208.5	-	6	783	c.378A>G	c.(376-378)gcA>gcG	p.A126A	MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000510942.1_Intron|MEF2C_ENST00000514028.1_Intron|MEF2C_ENST00000506554.1_Intron|MEF2C_ENST00000508569.1_Intron|MEF2C_ENST00000437473.2_Intron|MEF2C_ENST00000504921.2_Intron|MEF2C_ENST00000424173.2_Silent_p.A106A|MEF2C_ENST00000503554.1_Intron|MEF2C_ENST00000514015.1_Intron	NM_001193347.1	NP_001180276.1	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	108					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		GTGGGGTGAGTGCATAAGAGG	0.373000										HNSCC(66;0.2)			4	74					0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54327109	54327109	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:54327109G>A	ENST00000306888.2	-	10	2115	c.1864C>T	c.(1864-1866)Cta>Tta	p.L622L	LNX1_ENST00000263925.7_Silent_p.L718L|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	718						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACAATAGTTAGAGTAATTCTT	0.358000													15	53					0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91972917	91972917	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr9:91972917C>T	ENST00000375807.3	+	16	2343	c.2272C>T	c.(2272-2274)Cag>Tag	p.Q758*	SECISBP2_ENST00000339901.4_Nonsense_Mutation_p.Q685*|SECISBP2_ENST00000534113.2_Nonsense_Mutation_p.Q690*	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	758					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GCCCAAGGATCAGTTCCACAA	0.582000													13	32					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879247	3879247	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr18:3879247C>T	ENST00000315677.3	-	4	1417	c.822G>A	c.(820-822)ctG>ctA	p.L274L	DLGAP1_ENST00000581527.1_Silent_p.L274L|DLGAP1_ENST00000584874.1_Silent_p.L274L|DLGAP1_ENST00000515196.2_Silent_p.L274L|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	274					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CGCTCTTCTTCAGCAGCGGGG	0.647000													14	47					0	0	1	0	0
RIT1	6016	broad.mit.edu	37	1	155870348	155870348	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:155870348G>C	ENST00000368323.3	-	6	695	c.491C>G	c.(490-492)tCt>tGt	p.S164C	RIT1_ENST00000539040.1_Missense_Mutation_p.S128C|RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_Missense_Mutation_p.S181C	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	164					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			GTATGCAGCAGATGTCTCAAA	0.433000													4	154					0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31759487	31759487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:31759487G>A	ENST00000375663.3	-	8	1440	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	VARS_ENST00000444930.2_Nonsense_Mutation_p.R39*	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	334					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AAGACACCTCGGGGATTTGCT	0.582000													24	75					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55222274	55222274	+	RNA	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:55222274G>A	ENST00000413439.1	+	0	1718																											GCTAAGGAAAGAGGGGAGTAA	0.632000													4	26					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72822226	72822226	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr16:72822226G>C	ENST00000268489.5	-	10	10621	c.9949C>G	c.(9949-9951)Cct>Gct	p.P3317A	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P2403A	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3317					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			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)				GCATAATAAGGAGAAAAGCCT	0.587000													16	79					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317652	30317652	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:30317652C>T	ENST00000375377.1	-	3	1526	c.1425G>A	c.(1423-1425)tgG>tgA	p.W475*		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	475										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						TCTGTGGATTCCAAATGGCAC	0.577000													13	126					0	0	1	0	0
MOB1A	55233	broad.mit.edu	37	2	74399789	74399789	+	Silent	SNP	A	A	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:74399789A>G	ENST00000396049.3	-	2	298	c.105T>C	c.(103-105)acT>acC	p.T35T	MOB1A_ENST00000497054.1_5'UTR|MOB1A_ENST00000409969.2_Silent_p.T35T	NM_018221.3	NP_060691.2	Q9H8S9	MOL1B_HUMAN	MOB kinase activator 1A	35					hippo signaling cascade		metal ion binding|protein binding										CACTTCCTAGAGTTGCTTCTG	0.398000													19	61					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16525917	16525917	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:16525917G>A	ENST00000311331.7	-	6	2374	c.2283C>T	c.(2281-2283)ttC>ttT	p.F761F		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	761					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)		AACCCCTCCTGAAGGCTTTTC	0.443000													16	75					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64684600	64684600	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr11:64684600C>G	ENST00000421419.2	-	1	122	c.8G>C	c.(7-9)cGa>cCa	p.R3P	ATG2A_ENST00000377264.3_Missense_Mutation_p.R3P			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	3							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CCACAGCCATCGTGACATCTC	0.662000													5	29					0	0	1	0	0
FAM118A	55007	broad.mit.edu	37	22	45728306	45728306	+	Splice_Site	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr22:45728306G>A	ENST00000216214.3	+	7	1486	c.651_splice	c.e7-1	p.E218_splice	FAM118A_ENST00000441876.2_Splice_Site_p.E218_splice|FAM118A_ENST00000405548.3_Splice_Site_p.E36_splice	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	218						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CCTTTTCTAGGAAGTCCTCCA	0.458000													12	153					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860800	16860800	+	Silent	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:16860800G>C	ENST00000524140.2	+	6	1765	c.1347G>C	c.(1345-1347)cgG>cgC	p.R449R	NWD1_ENST00000379808.3_Silent_p.R449R|NWD1_ENST00000339803.6_Silent_p.R314R|NWD1_ENST00000552788.1_Silent_p.R449R|NWD1_ENST00000549814.1_Silent_p.R449R|NWD1_ENST00000523826.1_Silent_p.R243R	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	449	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCATGCTCGGAGGGTTCCCT	0.602000													14	73					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930645	46930645	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr4:46930645G>C	ENST00000264318.3	-	9	2244	c.1262C>G	c.(1261-1263)tCt>tGt	p.S421C		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	421					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)	TGTGCCTTTAGAAGATTCTTG	0.443000													12	66					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110412325	110412325	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr8:110412325G>A	ENST00000378402.5	+	13	1137	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	345	IPT/TIG 3.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTGAAGCTTGAGGTGTGGAA	0.418000										HNSCC(38;0.096)			35	112					0	0	1	0	0
DSTN	11034	broad.mit.edu	37	20	17585239	17585239	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr20:17585239T>A	ENST00000246069.6	+	3	697	c.351T>A	c.(349-351)taT>taA	p.Y117*	DSTN_ENST00000474024.1_3'UTR|DSTN_ENST00000543261.1_Nonsense_Mutation_p.Y100*	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	117	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AAATGATCTATGCAAGCTCCA	0.383000													16	48					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83863923	83863923	+	Silent	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:83863923G>C	ENST00000349129.2	+	33	6674	c.6414G>C	c.(6412-6414)ctG>ctC	p.L2138L	DOPEY1_ENST00000237163.5_Silent_p.L2068L|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Silent_p.L2129L	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2138					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGGACAATCTGATGACACATG	0.343000													5	77					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56484764	56484764	+	Silent	SNP	A	A	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr6:56484764A>G	ENST00000370765.6	-	23	4175	c.4068T>C	c.(4066-4068)caT>caC	p.H1356H	DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	5004					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTGCTTGTCATGTTCTTGCT	0.433000													4	116					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3778065	3778065	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr16:3778065G>A	ENST00000262367.5	-	31	7792	c.6983C>T	c.(6982-6984)tCg>tTg	p.S2328L	CREBBP_ENST00000382070.3_Missense_Mutation_p.S2290L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2328					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.S2328L(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGGAGATGCGAGGCCTGTGG	0.627000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						16	77					0	0	1	0	0
EPOR	2057	broad.mit.edu	37	19	11489103	11489103	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:11489103C>T	ENST00000222139.6	-	8	1188	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	362						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	TGGGCATGCTCACTGCCCACT	0.637000											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	42					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038898	11038898	+	RNA	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr21:11038898G>A	ENST00000470054.1	-	0	1305									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAAGTCTGAAGAAGGTGTTGG	0.438000													9	375					0	0	1	0	0
GPR32	2854	broad.mit.edu	37	19	51274550	51274550	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:51274550C>G	ENST00000270590.4	+	1	830	c.693C>G	c.(691-693)atC>atG	p.I231M		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	231						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCTTAGCAATCATAGGCACCT	0.607000													10	44					0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86556203	86556203	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr7:86556203G>A	ENST00000450689.2	-	9	1304	c.1119C>T	c.(1117-1119)ccC>ccT	p.P373P	KIAA1324L_ENST00000444627.1_Silent_p.P373P|KIAA1324L_ENST00000416314.1_Silent_p.P206P|KIAA1324L_ENST00000297222.6_Silent_p.P133P	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	373						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GGCAGATTTTGGGCTCTATCC	0.378000													19	67					0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5496313	5496313	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:5496313G>C	ENST00000355029.4	+	9	996	c.854G>C	c.(853-855)aGa>aCa	p.R285T	NET1_ENST00000380359.3_Missense_Mutation_p.R231T|NET1_ENST00000542715.1_Missense_Mutation_p.R104T	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	285	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CAGGATCCAAGAGTCCAAGAC	0.453000													23	33					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	76055547	76055547	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr13:76055547G>T	ENST00000377636.3	-	1	703	c.357C>A	c.(355-357)ttC>ttA	p.F119L	TBC1D4_ENST00000431480.2_Missense_Mutation_p.F119L|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.F119L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	119	PID 1.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CCTTGTGCTCGAAGATGAATA	0.672000													23	91					3.08376e-08	3.22587e-08	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144864167	144864167	+	Silent	SNP	C	C	T	rs144937686	byFrequency	TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:144864167C>T	ENST00000369359.4	-	39	6374	c.6336G>A	c.(6334-6336)gaG>gaA	p.E2112E	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.E2061E|PDE4DIP_ENST00000313382.9_Silent_p.E1870E|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Silent_p.E1976E|PDE4DIP_ENST00000369354.3_Silent_p.E1976E			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1976					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAAGACGTTCCTCCCTGAAAT	0.473000			T	PDGFRB	MPD								6	501					0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40541397	40541397	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:40541397G>A	ENST00000434248.1	-	5	1434	c.1369C>T	c.(1369-1371)Cat>Tat	p.H457Y	ZNF780B_ENST00000221355.6_Missense_Mutation_p.H309Y	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGTTGGTAATGATATCGAAAG	0.388000													13	146					0	0	1	0	0
PITRM1	10531	broad.mit.edu	37	10	3197895	3197895	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:3197895C>T	ENST00000380989.2	-	14	1547	c.1509G>A	c.(1507-1509)tcG>tcA	p.S503S	PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000224949.4_Silent_p.S503S|PITRM1_ENST00000380994.1_Silent_p.S61S|PITRM1_ENST00000451104.2_Silent_p.S471S	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	471					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CTGGCCTCATCGATAAAGTCA	0.483000													8	50					0	0	1	0	0
MBP	4155	broad.mit.edu	37	18	74696844	74696844	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr18:74696844C>T	ENST00000355994.2	-	8	1020	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	MBP_ENST00000359645.3_Missense_Mutation_p.E135K|MBP_ENST00000397865.5_Missense_Mutation_p.E109K|MBP_ENST00000397875.3_Missense_Mutation_p.E130K|MBP_ENST00000382582.3_Missense_Mutation_p.E146K|MBP_ENST00000528160.1_Intron|MBP_ENST00000578193.1_Missense_Mutation_p.E120K|MBP_ENST00000397869.3_Missense_Mutation_p.E185K|MBP_ENST00000527041.1_Intron|MBP_ENST00000526111.1_Missense_Mutation_p.E98K|MBP_ENST00000354542.4_Intron|MBP_ENST00000580402.1_Missense_Mutation_p.E253K|MBP_ENST00000579129.1_Intron|MBP_ENST00000397866.4_Missense_Mutation_p.E120K	NM_001025101.1	NP_001020272.1	P02686	MBP_HUMAN	myelin basic protein	253	Induces experimental autoimmune encephalomyelitis (EAE) 2.				central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		CTCTGGCCTTCGGCCCCCTGC	0.637000													5	55					0	0	1	0	0
TBC1D20	128637	broad.mit.edu	37	20	419286	419286	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr20:419286C>T	ENST00000354200.4	-	8	1303	c.1156G>A	c.(1156-1158)Gtg>Atg	p.V386M	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	386					interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				CTTTTCACCACAGCCAGTGCA	0.522000													9	118					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135024223	135024223	+	Silent	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr10:135024223G>A	ENST00000304613.3	+	21	3924	c.3903G>A	c.(3901-3903)ctG>ctA	p.L1301L	KNDC1_ENST00000368572.2_Silent_p.L1303L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1301	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		ACAGCACGCTGACCAGGTACC	0.612000													12	143					0	0	1	0	0
IGLV3-12	28802	broad.mit.edu	37	22	23114970	23114970	+	RNA	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr22:23114970C>G	ENST00000390313.2	+	0	251																											GAGCGATTCTCTGGCTCCAAC	0.562000													8	42					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27720441	27720441	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:27720441G>A	ENST00000264717.2	+	3	292	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	GCKR_ENST00000424318.2_5'UTR	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	77			E -> G (in dbSNP:rs8179206).		carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					ACTCTACAGCGAATCCATTCT	0.493000													8	53					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15299893	15299893	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr19:15299893C>G	ENST00000263388.2	-	8	1360	c.1285G>C	c.(1285-1287)Gag>Cag	p.E429Q		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	429	EGF-like 10; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACATCGGTCTCACAGCGAGGT	0.642000													11	59					0	0	1	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140802777	140802777	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr5:140802777C>T	ENST00000398587.2	+	1	2016	c.1983C>T	c.(1981-1983)ctC>ctT	p.L661L	PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTCACGCTCACCGTGGCTG	0.662000													4	68					0	0	1	0	0
EXOC6B	23233	broad.mit.edu	37	2	72406524	72406524	+	Silent	SNP	C	C	T			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr2:72406524C>T	ENST00000272427.6	-	22	2506	c.2376G>A	c.(2374-2376)caG>caA	p.Q792Q	EXOC6B_ENST00000490919.1_5'UTR	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	792					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CAATGAGTTTCTGCTTGTCTC	0.522000													8	24					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26116686	26116686	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr17:26116686G>A	ENST00000313735.6	-	3	372	c.139C>T	c.(139-141)Cac>Tac	p.H47Y		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	47					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CTGAGGTTGTGATACTGAAGG	0.567000													7	73					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17270681	17270681	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr1:17270681delC	ENST00000375541.5	+	14	1964	c.1895delC	c.(1894-1896)gcfs	p.A632fs	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	632					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTGCAGGCTGCCCAGGAGGAG	0.706													2	4	---	---	---	---					
DYNC1H1	1778	broad.mit.edu	37	14	102445788	102445788	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DQ-7594-01A-11D-2229-08	TCGA-DQ-7594-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92e689c0-08ab-472b-aedc-6344fedcbbc0	2e374774-88d9-47db-8beb-ac153d352653	g.chr14:102445788delT	ENST00000360184.4	+	3	641	c.477delT	c.(475-477)ccfs	p.P159fs		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	159	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGTGGCTCCTTTTTTTAAGT	0.408													7	145	---	---	---	---					
