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
FZD8	8325	broad.mit.edu	37	10	35929479	35929479	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr10:35929479G>A	ENST00000374694.1	-	1	883	c.879C>T	c.(877-879)ttC>ttT	p.F293F		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	293					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						AGACGGTGGCGAAGGTGGACA	0.622000													19	26					0	0	1	0	0
SPRY4	81848	broad.mit.edu	37	5	141694650	141694650	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:141694650G>A	ENST00000344120.4	-	3	279	c.93C>T	c.(91-93)agC>agT	p.S31S	SPRY4_ENST00000434127.2_Silent_p.S8S	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	8					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAAGGGGGCGCTCTGTGGGA	0.632000									Testicular Cancer, Familial Clustering of				10	21					0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89525943	89525943	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:89525943G>T	ENST00000370473.4	-	3	474	c.255C>A	c.(253-255)caC>caA	p.H85Q		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	85					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GCTTCTTGGGGTGGGGCACAC	0.562000													11	93					2.48551e-13	2.65868e-13	1	1	0
SMAD4	4089	broad.mit.edu	37	18	48584814	48584814	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr18:48584814C>T	ENST00000342988.3	+	7	1430	c.892C>T	c.(892-894)Ccc>Tcc	p.P298S	SMAD4_ENST00000398417.2_Missense_Mutation_p.P298S|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	298	SAD.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GCCGCCCCATCCCGGACATTA	0.428000													20	79					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2376270	2376270	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr16:2376270C>T	ENST00000301732.5	-	5	760	c.60G>A	c.(58-60)cgG>cgA	p.R20R	ABCA3_ENST00000382381.3_Silent_p.R20R|ABCA3_ENST00000567910.1_Silent_p.R20R	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	20					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCAGGACCTTCCGCTTCTGGA	0.567000													44	25					0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642957	127642957	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:127642957G>A	ENST00000405109.1	+	2	1520	c.1053G>A	c.(1051-1053)aaG>aaA	p.K351K	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000405256.1_Silent_p.K351K			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	351										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						AAAAGAACAAGAATGTTGAAA	0.348000													18	87					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51621528	51621528	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:51621528C>T	ENST00000522124.1	+	17	1935	c.1274C>T	c.(1273-1275)gCt>gTt	p.A425V	SNTG1_ENST00000518864.1_Missense_Mutation_p.A425V|SNTG1_ENST00000517473.1_Missense_Mutation_p.A425V|SNTG1_ENST00000276467.5_Missense_Mutation_p.A425V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	425					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGCTTTGATGCTGCAACAAAG	0.378000													18	42					0	0	1	0	0
ARC	23237	broad.mit.edu	37	8	143695106	143695106	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:143695106G>A	ENST00000356613.2	-	1	1727	c.527C>T	c.(526-528)cCg>cTg	p.P176L		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	176					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				GGCTGGGGGCGGGGTGATGGC	0.746000													5	4					0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171739	4171739	+	Missense_Mutation	SNP	G	G	A	rs142789769		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:4171739G>A	ENST00000078445.2	+	10	1306	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000602257.1_Missense_Mutation_p.E385K|CREB3L3_ENST00000252587.3_Silent_p.P275P|CREB3L3_ENST00000595923.1_Missense_Mutation_p.E386K	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	387					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCCGACCCGAGGCTGACAC	0.632000													42	76					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121448138	121448138	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:121448138G>A	ENST00000393667.3	-	4	409	c.299C>T	c.(298-300)gCg>gTg	p.A100V	GOLGB1_ENST00000472829.1_5'UTR|GOLGB1_ENST00000340645.5_Missense_Mutation_p.A100V	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	100					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTGGCCTTCGCATGAAGTTT	0.363000													20	115					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24483605	24483605	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr22:24483605C>T	ENST00000398319.2	+	23	3849	c.3464C>T	c.(3463-3465)tCa>tTa	p.S1155L	CABIN1_ENST00000263119.5_Missense_Mutation_p.S1155L|CABIN1_ENST00000405822.2_Missense_Mutation_p.S1105L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1155					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	p.S1155*(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCCTTGCACTCATTCGCCTCA	0.587000													23	60					0	0	1	0	0
ADRA2C	152	broad.mit.edu	37	4	3768899	3768899	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr4:3768899C>G	ENST00000330055.5	+	1	775	c.566C>G	c.(565-567)tCg>tGg	p.S189W	ADRA2C_ENST00000509482.1_Missense_Mutation_p.S189W	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	189					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CCGCTGGTCTCGCTCTACCGC	0.677000													3	4					0	0	1	0	0
KIFC2	90990	broad.mit.edu	37	8	145692461	145692461	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:145692461G>A	ENST00000301332.2	+	3	675	c.298G>A	c.(298-300)Gag>Aag	p.E100K		NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	100					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGGGGCGGAAGAGAGCTGCGG	0.746000											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	7					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121944204	121944204	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:121944204C>T	ENST00000442488.2	-	1	355	c.288G>A	c.(286-288)cgG>cgA	p.R96R	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Silent_p.R96R|FEZF1_ENST00000331178.4_Silent_p.R96R	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	96					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GACTGGCCTTCCGCGGCTCGG	0.682000													6	13					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606668	55606668	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr11:55606668G>A	ENST00000378396.1	+	1	441	c.441G>A	c.(439-441)gtG>gtA	p.V147V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCATGCTGGTGGTTGTATTGT	0.448000													20	54					0	0	1	0	0
SERPINB1	1992	broad.mit.edu	37	6	2838863	2838863	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:2838863C>T	ENST00000380739.5	-	3	428	c.226G>A	c.(226-228)Gat>Aat	p.D76N	SERPINB1_ENST00000476896.1_5'UTR|SERPINB1_ENST00000537185.1_5'UTR			P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	76					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		TTGTTGATATCAGCATTCAGA	0.338000													12	38					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121944205	121944205	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:121944205C>T	ENST00000442488.2	-	1	354	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.R96Q|FEZF1_ENST00000331178.4_Missense_Mutation_p.R96Q	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	96					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						ACTGGCCTTCCGCGGCTCGGA	0.682000													6	14					0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	137956364	137956364	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:137956364G>T	ENST00000469044.1	+	9	997	c.726G>T	c.(724-726)aaG>aaT	p.K242N	ARMC8_ENST00000481646.1_Missense_Mutation_p.K228N|ARMC8_ENST00000461822.1_Missense_Mutation_p.K242N|ARMC8_ENST00000470821.1_Missense_Mutation_p.K242N|ARMC8_ENST00000471453.1_Missense_Mutation_p.K228N|ARMC8_ENST00000491704.1_Missense_Mutation_p.K200N|ARMC8_ENST00000485396.1_Missense_Mutation_p.K169N|ARMC8_ENST00000538260.1_Missense_Mutation_p.K211N|ARMC8_ENST00000393058.3_Missense_Mutation_p.K232N|ARMC8_ENST00000489213.1_Missense_Mutation_p.K200N|ARMC8_ENST00000358441.2_Missense_Mutation_p.K228N	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	242							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TTTTTGTGAAGATGTTACAGA	0.328000													11	66					0.00400662	0.00408488	1	1	0
TRIB3	57761	broad.mit.edu	37	20	372179	372179	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr20:372179G>A	ENST00000217233.3	+	3	1093	c.540G>A	c.(538-540)ctG>ctA	p.L180L	TRIB3_ENST00000422053.2_Silent_p.L207L	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	180	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GTCTGGTCCTGCGTGATCTCA	0.637000													8	27					0	0	1	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101571040	101571040	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:101571040C>A	ENST00000326172.5	+	2	516	c.401C>A	c.(400-402)gCt>gAt	p.A134D	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.A34D|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.A134D	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						AAACAGAAGGCTTCTGGCCAA	0.468000													12	170					0.010729	0.0108119	1	1	0
PKM	5315	broad.mit.edu	37	15	72502754	72502754	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr15:72502754G>A	ENST00000319622.6	-	4	768	c.312C>T	c.(310-312)ctC>ctT	p.L104L	PKM_ENST00000449901.2_Silent_p.L89L|PKM_ENST00000389093.3_Silent_p.L104L|PKM_ENST00000335181.5_Silent_p.L104L|PKM_ENST00000565154.1_Silent_p.L104L|PKM_ENST00000568883.1_Intron|PKM_ENST00000568459.1_Silent_p.L104L|PKM_ENST00000565184.1_Silent_p.L104L	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle											endometrium(1)|lung(7)	8						CGGGCCGGTAGAGGATGGGGT	0.562000													59	44					0	0	1	0	0
TMCO3	55002	broad.mit.edu	37	13	114149919	114149919	+	Missense_Mutation	SNP	T	T	G	rs138668953		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr13:114149919T>G	ENST00000434316.2	+	2	382	c.23T>G	c.(22-24)tTc>tGc	p.F8C	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.F8C	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	8						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GGAAGAAGCTTCTTCTGGGTG	0.612000													3	44					0	0	1	0	0
ENDOD1	23052	broad.mit.edu	37	11	94861543	94861543	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr11:94861543C>T	ENST00000278505.4	+	2	421	c.303C>T	c.(301-303)atC>atT	p.I101I		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	101						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TCTTGCAGATCGATGACCCCA	0.517000													5	20					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56422029	56422029	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:56422029G>C	ENST00000588751.1	-	6	2206	c.2182C>G	c.(2182-2184)Ctg>Gtg	p.L728V	NLRP13_ENST00000342929.3_Missense_Mutation_p.L728V			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	728							ATP binding	p.L728M(1)		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)		AGCTCATGCAGATTCTCATTT	0.453000													32	97					0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102510539	102510539	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr10:102510539G>T	ENST00000370296.2	+	3	851	c.301G>T	c.(301-303)Gaa>Taa	p.E101*	PAX2_ENST00000556085.1_Nonsense_Mutation_p.E100*|PAX2_ENST00000428433.1_Nonsense_Mutation_p.E101*|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000355243.3_Nonsense_Mutation_p.E101*|PAX2_ENST00000361791.3_Nonsense_Mutation_p.E101*			Q02962	PAX2_HUMAN	paired box 2	101	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CAAGATTGCTGAATACAAACG	0.587000													32	35					1.56442e-22	1.70842e-22	1	1	0
FECH	2235	broad.mit.edu	37	18	55221509	55221509	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr18:55221509G>C	ENST00000262093.5	-	9	1211	c.1060C>G	c.(1060-1062)Caa>Gaa	p.Q354E	FECH_ENST00000382873.3_Missense_Mutation_p.Q360E	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	354					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding	p.Q360E(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				GCTAAAACTTGAGAGTACTCG	0.413000													55	224					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100995541	100995541	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:100995541G>C	ENST00000193391.7	-	5	737	c.550C>G	c.(550-552)Cca>Gca	p.P184A		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	184					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ACAGGAACTGGAGAAGACAGT	0.333000													4	18					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53560990	53560990	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:53560990G>A	ENST00000342160.3	-	82	13457	c.13000C>T	c.(13000-13002)Cgc>Tgc	p.R4334C	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4334C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4334	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GAAGGCAGGCGATCTGTGGAC	0.493000													23	19					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27419878	27419878	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:27419878G>A	ENST00000211936.6	-	6	1744	c.1460C>T	c.(1459-1461)tCa>tTa	p.S487L	ZNF184_ENST00000377419.1_Missense_Mutation_p.S487L	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGTAAGGGATGAGCAGTAACT	0.403000													25	59					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19492809	19492809	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:19492809C>T	ENST00000328405.2	+	10	2004	c.1738C>T	c.(1738-1740)Cgt>Tgt	p.R580C	KCNH8_ENST00000537696.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	580						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GTATCTGCTGCGTCAAGGGGA	0.507000													29	59					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56954105	56954105	+	Missense_Mutation	SNP	C	C	A	rs138160651	byFrequency	TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:56954105C>A	ENST00000504904.3	-	7	978	c.259G>T	c.(259-261)Ggg>Tgg	p.G87W	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.G215W|ZNF667_ENST00000292069.6_Missense_Mutation_p.G87W			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	87					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)		CATTTAGACCCCGAGTCTGAA	0.348000													15	77					2.23348e-06	2.31325e-06	1	1	0
STAT6	6778	broad.mit.edu	37	12	57492348	57492348	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:57492348A>G	ENST00000300134.3	-	19	2424	c.2099T>C	c.(2098-2100)aTc>aCc	p.I700T	STAT6_ENST00000538913.2_Missense_Mutation_p.I590T|STAT6_ENST00000543873.2_Missense_Mutation_p.I700T|STAT6_ENST00000454075.3_Missense_Mutation_p.I700T|STAT6_ENST00000537215.2_Missense_Mutation_p.I590T|STAT6_ENST00000556155.1_Missense_Mutation_p.I700T	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	700					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						ATACGGGGGGATGGAGTGAGA	0.547000													4	72					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140735361	140735361	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:140735361C>T	ENST00000571252.1	+	1	594	c.594C>T	c.(592-594)cgC>cgT	p.R198R	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGAACGCGCTCTAGATC	0.567000													7	8					0	0	1	0	0
LRRC42	115353	broad.mit.edu	37	1	54423865	54423865	+	Silent	SNP	C	C	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:54423865C>A	ENST00000371370.3	+	4	1038	c.517C>A	c.(517-519)Cgg>Agg	p.R173R	LRRC42_ENST00000319223.4_Silent_p.R173R	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	173										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TAAGTCTTTCCGGGAGCTGAC	0.468000													8	53					0.000274275	0.000280729	1	1	0
STARD13	90627	broad.mit.edu	37	13	33684190	33684190	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr13:33684190G>A	ENST00000336934.5	-	12	2983	c.2867C>T	c.(2866-2868)tCt>tTt	p.S956F	STARD13_ENST00000255486.4_Missense_Mutation_p.S948F|STARD13_ENST00000399365.3_Missense_Mutation_p.S838F	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	956	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CACCTCCACAGAAGCCTTCCA	0.562000											OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	21					0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92131331	92131331	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:92131331C>G	ENST00000248633.4	-	14	2384	c.2289G>C	c.(2287-2289)aaG>aaC	p.K763N	PEX1_ENST00000541751.1_Intron|PEX1_ENST00000438045.1_Missense_Mutation_p.K441N|PEX1_ENST00000428214.1_Missense_Mutation_p.K706N	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	763					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GATCGGTGAACTTGTTTATAT	0.353000													58	170					0	0	1	0	0
USP14	9097	broad.mit.edu	37	18	202939	202939	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr18:202939C>T	ENST00000261601.6	+	11	1027	c.936C>T	c.(934-936)atC>atT	p.I312I	USP14_ENST00000400266.3_Silent_p.I301I|USP14_ENST00000582707.1_Silent_p.I277I|USP14_ENST00000383589.2_Silent_p.I266I	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	312					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CCTTGTATATCAAATCTGTAA	0.333000													11	33					0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142607677	142607677	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:142607677G>A	ENST00000295992.3	-	1	368	c.62C>T	c.(61-63)tCg>tTg	p.S21L	PCOLCE2_ENST00000461818.1_5'UTR|PCOLCE2_ENST00000485766.1_Missense_Mutation_p.S21L	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	21						extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTGCTGCCGCGAGAGCTGGGT	0.692000													3	14					0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868899	97868899	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:97868899A>G	ENST00000437310.1	+	1	730	c.670A>G	c.(670-672)Aca>Gca	p.T224A		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTCCTCTATACAATCTTGAA	0.358000													12	37					0	0	1	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202173910	202173910	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:202173910C>T	ENST00000405148.2	-	10	1182	c.739G>A	c.(739-741)Gag>Aag	p.E247K	ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000286190.5_Missense_Mutation_p.E247K|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.E247K|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.E247K	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	247					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TCGAACTTCTCATCCTTCTTC	0.408000													43	64					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	62					0	0	1	0	0
ELP5	23587	broad.mit.edu	37	17	7156110	7156110	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:7156110G>A	ENST00000574993.1	+	2	333	c.116G>A	c.(115-117)cGc>cAc	p.R39H	RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000356683.2_Missense_Mutation_p.R39H|ELP5_ENST00000396627.2_Missense_Mutation_p.R39H|ELP5_ENST00000574255.1_Missense_Mutation_p.R39H|ELP5_ENST00000354429.2_Missense_Mutation_p.R39H|ELP5_ENST00000396628.2_Missense_Mutation_p.R39H|ELP5_ENST00000573657.1_Missense_Mutation_p.R39H					elongator acetyltransferase complex subunit 5																		TGGGAGGGGCGCAGTCTCTTG	0.587000													3	29					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169525915	169525915	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:169525915G>A	ENST00000367796.3	-	6	1122	c.921C>T	c.(919-921)atC>atT	p.I307I	F5_ENST00000367797.3_Silent_p.I307I|F5_ENST00000546081.1_Silent_p.I170I			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	307	F5/8 type A 1.|Plastocyanin-like 2.				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)	GAGAAGATATGATCCACTTTC	0.483000													11	50					0	0	1	0	0
ELF4	2000	broad.mit.edu	37	X	129205093	129205093	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:129205093G>C	ENST00000308167.5	-	7	1110	c.731C>G	c.(730-732)tCc>tGc	p.S244C	ELF4_ENST00000335997.7_Missense_Mutation_p.S244C	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	244					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CACAGCTTTGGAGTCCACCAG	0.522000			T	ERG	AML								63	40					0	0	1	0	0
NEIL1	79661	broad.mit.edu	37	15	75641389	75641389	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr15:75641389C>T	ENST00000564784.1	+	3	772	c.143C>T	c.(142-144)tCa>tTa	p.S48L	NEIL1_ENST00000569035.1_Missense_Mutation_p.S48L|NEIL1_ENST00000355059.4_Missense_Mutation_p.S48L|NEIL1_ENST00000567959.1_Intron			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	48					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						TACCGCATCTCAGCTTCAGCC	0.657000								Base excision repair (BER), DNA glycosylases					40	18					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139192996	139192996	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:139192996C>T	ENST00000274710.3	+	3	679	c.474C>T	c.(472-474)ctC>ctT	p.L158L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	158					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)			ACAGCAGCCTCGACTCCCTAG	0.652000													27	59					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67066571	67066571	+	Splice_Site	SNP	T	T	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:67066571T>G	ENST00000315962.4	+	9	1897		c.e9+2		TRIM55_ENST00000276573.7_Splice_Site|TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55							cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			ACTTCTCAGGTTAGTGATGAT	0.542000													10	27					0	0	1	0	0
RTP1	132112	broad.mit.edu	37	3	186917628	186917628	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:186917628G>A	ENST00000312295.4	+	2	592	c.562G>A	c.(562-564)Gga>Aga	p.G188R	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	188					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GCGGCACCGCGGAGAGTTCTG	0.692000													10	37					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79936594	79936594	+	Missense_Mutation	SNP	G	G	A	rs145524733		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr9:79936594G>A	ENST00000360280.3	+	44	6022	c.5762G>A	c.(5761-5763)cGa>cAa	p.R1921Q	VPS13A_ENST00000376634.4_Missense_Mutation_p.R1921Q|VPS13A_ENST00000376636.3_Missense_Mutation_p.R1882Q|VPS13A_ENST00000357409.5_Missense_Mutation_p.R1921Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1921					Golgi to endosome transport|protein transport	intracellular	protein binding	p.R1921Q(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GATTATATCCGAACCAAGGAC	0.353000													13	39					0	0	1	0	0
SCCPDH	51097	broad.mit.edu	37	1	246927581	246927581	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:246927581G>A	ENST00000366510.3	+	10	1400	c.1024G>A	c.(1024-1026)Ggt>Agt	p.G342S		NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	342						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		GACATTCTTTGGTCAAGGATA	0.408000													22	64					0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54819017	54819017	+	Silent	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:54819017G>C	ENST00000301219.3	-	6	848	c.729C>G	c.(727-729)ctC>ctG	p.L243L	LILRA5_ENST00000346508.3_Silent_p.L231L	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	243					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGACGGACTGAGGTTATCAG	0.507000													10	42					0	0	1	0	0
GNPNAT1	64841	broad.mit.edu	37	14	53251317	53251317	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr14:53251317C>T	ENST00000216410.3	-	2	239	c.52G>A	c.(52-54)Gac>Aac	p.D18N	GNPNAT1_ENST00000554230.1_Intron	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	18					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					TGACTCCAGTCCACTTCTTTG	0.373000													139	15					0	0	1	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235634193	235634193	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:235634193C>A	ENST00000366600.3	-	6	961	c.733G>T	c.(733-735)Gat>Tat	p.D245Y	B3GALNT2_ENST00000478199.1_5'UTR|B3GALNT2_ENST00000313984.3_Missense_Mutation_p.D286Y	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	245					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CCCCCTCCATCATTCACTGTC	0.358000													29	74					2.46105e-21	2.66529e-21	1	1	0
MB21D2	151963	broad.mit.edu	37	3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:192516720G>C	ENST00000392452.2	-	2	1251	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311								p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557000													14	48					0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137803417	137803417	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:137803417G>A	ENST00000239938.4	+	2	1551	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	427					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAAGAAAGCAGACAAAAGTGT	0.542000													12	32					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133429	57133429	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:57133429C>T	ENST00000328070.6	+	3	1008	c.774C>T	c.(772-774)atC>atT	p.I258I		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	258						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TGCACCTCATCGTGCACCAGC	0.662000													16	48					0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8006700	8006700	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:8006700T>C	ENST00000380149.1	-	14	2395	c.2365A>G	c.(2365-2367)Aac>Gac	p.N789D	ALOXE3_ENST00000448843.2_Missense_Mutation_p.N633D|ALOXE3_ENST00000318227.3_Missense_Mutation_p.N765D			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	633					leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CAGCTGATGTTCACTTCAGGG	0.557000													26	44					0	0	1	0	0
MMP8	4317	broad.mit.edu	37	11	102593222	102593222	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr11:102593222G>A	ENST00000236826.3	-	2	383	c.285C>T	c.(283-285)gaC>gaT	p.D95D		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	95					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		AACCACCACTGTCAGGCACTC	0.458000													26	21					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42221507	42221507	+	Silent	SNP	G	G	A	rs149933160		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:42221507G>A	ENST00000221992.6	+	5	1206	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.P364P|CEACAM5_ENST00000398599.4_Silent_p.P363P	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	364	Ig-like 4.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AGAGCCTCCCGGTCAGTCCCA	0.512000													29	159					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15742398	15742398	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:15742398G>A	ENST00000281171.4	+	25	3750	c.3420G>A	c.(3418-3420)gtG>gtA	p.V1140V	PTPRO_ENST00000348962.2_Silent_p.V1112V|PTPRO_ENST00000544244.1_Silent_p.V301V|PTPRO_ENST00000445537.2_Silent_p.V329V|PTPRO_ENST00000442921.2_Silent_p.V329V|PTPRO_ENST00000542557.1_Silent_p.V301V	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1140	Substrate binding (By similarity).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GTGCTGGCGTGGGACGGACAG	0.448000													37	102					0	0	1	0	0
C22orf43	51233	broad.mit.edu	37	22	23974134	23974134	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr22:23974134G>A	ENST00000317749.5	-	1	374	c.77C>T	c.(76-78)tCt>tTt	p.S26F	AP000346.2_ENST00000390329.2_RNA	NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN	chromosome 22 open reading frame 43	26										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						ATCAGTATCAGATTCATAACA	0.542000													26	66					0	0	1	0	0
KCND1	3750	broad.mit.edu	37	X	48826593	48826593	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:48826593G>A	ENST00000218176.3	-	1	1383	c.86C>T	c.(85-87)cCg>cTg	p.P29L		NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	29						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						CCCCGGTGCCGGGGGCAGGGG	0.662000													3	8					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81374353	81374353	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:81374353G>A	ENST00000222390.5	-	6	935	c.709C>T	c.(709-711)Cat>Tat	p.H237Y	HGF_ENST00000457544.2_Missense_Mutation_p.H232Y|HGF_ENST00000453411.1_Missense_Mutation_p.H232Y|HGF_ENST00000444829.2_Missense_Mutation_p.H237Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	237	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GGTGTCTGATGATCCCAGCGC	0.378000													16	39					0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132440099	132440099	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:132440099C>T	ENST00000370828.3	-	5	1485	c.961G>A	c.(961-963)Gat>Aat	p.D321N	GPC4_ENST00000535467.1_Missense_Mutation_p.D251N	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	321					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					ATAATAGCATCAGAAATCTTC	0.488000													41	35					0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94876457	94876457	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:94876457C>T	ENST00000358746.2	-	8	778	c.480G>A	c.(478-480)tgG>tgA	p.W160*		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	160							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TCAATTTTCTCCATAGTTGAT	0.378000													27	65					0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106708240	106708240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:106708240C>T	ENST00000546625.1	+	3	421	c.262C>T	c.(262-264)Caa>Taa	p.Q88*	TCP11L2_ENST00000299045.3_Nonsense_Mutation_p.Q88*|TCP11L2_ENST00000547153.1_Nonsense_Mutation_p.Q88*			Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	88										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						TGAGAACTTTCAATTGAAACA	0.418000													10	44					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529035	57529035	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:57529035C>T	ENST00000420713.1	+	4	980	c.868C>T	c.(868-870)Cat>Tat	p.H290Y		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CAAGAGAATTCATACTGGAGA	0.408000													9	17					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52919487	52919487	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:52919487G>A	ENST00000360465.3	+	7	1808	c.1382G>A	c.(1381-1383)gGa>gAa	p.G461E	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATCCATAGTGGAGAGAAACCT	0.378000													20	76					0	0	1	0	0
CTC-260F20.3	0	broad.mit.edu	37	19	19637028	19637028	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:19637028C>G	ENST00000555938.1	+	2	144	c.132C>G	c.(130-132)atC>atG	p.I44M	NDUFA13_ENST00000428459.2_Missense_Mutation_p.I44M|NDUFA13_ENST00000252576.5_Missense_Mutation_p.I127M|NDUFA13_ENST00000503283.1_Missense_Mutation_p.I44M|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000507754.3_Missense_Mutation_p.I44M																							GAACCCTGATCTACGGGCACT	0.642000													6	22					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67801807	67801807	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr13:67801807G>A	ENST00000544246.1	-	2	1457	c.766C>T	c.(766-768)Caa>Taa	p.Q256*	PCDH9_ENST00000377865.2_Nonsense_Mutation_p.Q256*|PCDH9_ENST00000377861.3_Nonsense_Mutation_p.Q256*|PCDH9_ENST00000328454.5_Nonsense_Mutation_p.Q256*|PCDH9_ENST00000456367.1_Nonsense_Mutation_p.Q256*	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	256	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACCTCCACTTGACCCTCTTTA	0.473000													24	34					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143090949	143090949	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:143090949C>G	ENST00000275815.3	-	16	2597	c.2511G>C	c.(2509-2511)aaG>aaC	p.K837N		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	837	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CCTCAATGCTCTTCATAACCT	0.577000													23	43					0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46307508	46307508	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:46307508G>C	ENST00000357422.2	+	4	1402	c.859G>C	c.(859-861)Gag>Cag	p.E287Q	CCR3_ENST00000395942.2_Missense_Mutation_p.E287Q|CCR3_ENST00000395940.2_Missense_Mutation_p.E287Q|CCR3_ENST00000541018.1_Missense_Mutation_p.E287Q|CCR3_ENST00000545097.1_Missense_Mutation_p.E308Q			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	287					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GCTGGTGACAGAGGTGATCGC	0.517000													22	27					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179449657	179449657	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:179449657C>T	ENST00000589042.1	-	310	64935	c.64711G>A	c.(64711-64713)Gat>Aat	p.D21571N	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D12631N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D19930N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D19003N|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D12698N|TTN_ENST00000460472.2_Missense_Mutation_p.D12506N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19930	Fibronectin type-III 56.						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)			GCGTCTATATCAGAAATGTCA	0.458000													24	39					0	0	1	0	0
OR52A4P	390053	broad.mit.edu	37	11	5142643	5142643	+	RNA	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr11:5142643C>T	ENST00000498233.1	-	0	755																				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGGCTTGGCTCAGATTTGATG	0.428000													20	48					0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36169709	36169709	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr9:36169709C>T	ENST00000335119.2	+	1	321	c.210C>T	c.(208-210)atC>atT	p.I70I		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	70	BTB.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			AGCTTTTCATCACCATTGACA	0.532000													8	25					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155530881	155530881	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr4:155530881C>T	ENST00000404648.3	-	6	806	c.567G>A	c.(565-567)caG>caA	p.Q189Q	FGG_ENST00000407946.1_Silent_p.Q197Q|FGG_ENST00000336098.3_Silent_p.Q189Q|FGG_ENST00000405164.1_Silent_p.Q197Q	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	189	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AAAGCCCGCTCTGTTTAGCTC	0.418000													17	57					0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4889259	4889259	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:4889259C>A	ENST00000361571.5	-	3	531	c.120G>T	c.(118-120)aaG>aaT	p.K40N	CAMTA2_ENST00000348066.3_Missense_Mutation_p.K17N|CAMTA2_ENST00000358183.4_Missense_Mutation_p.K17N|CAMTA2_ENST00000572543.1_Missense_Mutation_p.K17N|CAMTA2_ENST00000381311.5_Missense_Mutation_p.K19N|CAMTA2_ENST00000414043.3_Missense_Mutation_p.K40N	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	17					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGAGAAAGATCTTCAGGTGGT	0.537000													26	41					4.59853e-10	4.83958e-10	1	1	0
GPR65	8477	broad.mit.edu	37	14	88477470	88477470	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr14:88477470C>T	ENST00000267549.3	+	2	837	c.279C>T	c.(277-279)ctC>ctT	p.L93L	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	93					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						GTGCTTTTCTCATGTACATGA	0.403000													52	97					0	0	1	0	0
ENC1	8507	broad.mit.edu	37	5	73931590	73931590	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:73931590G>C	ENST00000302351.4	-	2	1851	c.721C>G	c.(721-723)Ctg>Gtg	p.L241V	ENC1_ENST00000510316.1_Missense_Mutation_p.L168V|ENC1_ENST00000537006.1_Missense_Mutation_p.L241V	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	241					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		ATGGCTGGCAGAAGTGCCAGC	0.483000													22	65					0	0	1	0	0
SPRYD3	84926	broad.mit.edu	37	12	53470909	53470909	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:53470909C>T	ENST00000301463.4	-	2	246	c.160G>A	c.(160-162)Gat>Aat	p.D54N	SPRYD3_ENST00000547837.1_Missense_Mutation_p.D91N	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	54	B30.2/SPRY.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CTTAAAGTATCTCCATCTACA	0.428000													22	61					0	0	1	0	0
CD44	960	broad.mit.edu	37	11	35223298	35223298	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr11:35223298C>T	ENST00000428726.2	+	9	1240	c.1117C>T	c.(1117-1119)Cat>Tat	p.H373Y	CD44_ENST00000263398.6_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.H373Y|CD44_ENST00000434472.2_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.H374Y|CD44_ENST00000415148.2_Missense_Mutation_p.H330Y|CD44_ENST00000526669.2_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.H373Y|CD44_ENST00000360158.4_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	373	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	CCATGAGCATCATGAGGAAGA	0.463000													4	31					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059596	11059596	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:11059596C>T	ENST00000287766.4	+	4	727	c.306C>T	c.(304-306)tgC>tgT	p.C102C	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	102					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TGCTGGAGTGCTCCCTGGGCC	0.592000													43	91					0	0	1	0	0
C21orf128	150147	broad.mit.edu	37	21	43523904	43523904	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr21:43523904C>T	ENST00000329015.2	-	2	480	c.329G>A	c.(328-330)cGa>cAa	p.R110Q	UMODL1_ENST00000400424.1_Intron|UMODL1_ENST00000400427.1_Intron|UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000408910.2_Intron					chromosome 21 open reading frame 128											lung(4)	4						CACCATCCATCGGTCACACCT	0.547000													7	21					0	0	1	0	0
SCARNA2	677766	broad.mit.edu	37	1	109643008	109643008	+	RNA	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:109643008G>A	ENST00000458748.1	+	0	194					NR_003023.1																						TATTTGATCGGATCGTGACCC	0.667000													16	35					0	0	1	0	0
SFXN4	119559	broad.mit.edu	37	10	120917544	120917544	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr10:120917544T>A	ENST00000355697.2	-	7	410	c.391A>T	c.(391-393)Atc>Ttc	p.I131F	SFXN4_ENST00000330036.6_Missense_Mutation_p.I122F|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	131					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		ACGGACTTGATCCCTTTCAGT	0.418000													8	48					0	0	1	0	0
PGBD2	267002	broad.mit.edu	37	1	249211968	249211968	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:249211968G>T	ENST00000355360.4	+	3	702	c.432G>T	c.(430-432)agG>agT	p.R144S	PGBD2_ENST00000539153.1_Missense_Mutation_p.R392S|PGBD2_ENST00000329291.5_Missense_Mutation_p.R395S	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	395										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAATGAAGAGGGGTTCATTTG	0.478000													21	49					4.35082e-09	4.56049e-09	1	1	0
HTR2A	3356	broad.mit.edu	37	13	47469754	47469754	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr13:47469754G>C	ENST00000378688.4	-	1	419	c.288C>G	c.(286-288)atC>atG	p.I96M	HTR2A_ENST00000543956.1_Intron|HTR2A_ENST00000542664.1_Missense_Mutation_p.I96M			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	96					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ACACTGCCATGATGACGAGTA	0.458000													20	29					0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105224986	105224986	+	Splice_Site	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:105224986C>G	ENST00000262903.4	-	16	1955		c.e16-1		HACE1_ENST00000517995.1_Intron|HACE1_ENST00000369125.2_Intron	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AAAATAGAATCTAAATATGTA	0.333000													10	15					0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	132795857	132795857	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:132795857C>T	ENST00000370818.3	-	6	1759	c.1314G>A	c.(1312-1314)agG>agA	p.R438R	GPC3_ENST00000543339.1_Silent_p.R384R|GPC3_ENST00000394299.2_Silent_p.R461R	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	438						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TCATTCCATTCCTTGCTGCCT	0.413000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				15	23					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140811312	140811312	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:140811312C>T	ENST00000252085.3	+	1	1128	c.986C>T	c.(985-987)gCg>gTg	p.A329V	PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATATTCTGCGCGAGCCAAA	0.507000													23	55					0	0	1	0	0
TIGD2	166815	broad.mit.edu	37	4	90034531	90034531	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr4:90034531C>G	ENST00000317005.2	+	1	564	c.406C>G	c.(406-408)Cca>Gca	p.P136A		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	136	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		Ccatggtattccaaaggctgc	0.398000													20	46					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126735460	126735460	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:126735460G>C	ENST00000393409.2	+	15	3115	c.3115G>C	c.(3115-3117)Gag>Cag	p.E1039Q	PLXNA1_ENST00000251772.4_Missense_Mutation_p.E1016Q	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1039	IPT/TIG 2.				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)		CACCAACCCTGAGGTGAAGTA	0.622000													21	107					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141328818	141328818	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:141328818T>G	ENST00000286364.3	+	23	2464	c.2429T>G	c.(2428-2430)aTt>aGt	p.I810S	RASA2_ENST00000452898.1_Missense_Mutation_p.I811S			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	810					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TTTAAGACAATTCAGCAAATA	0.363000													20	86					0	0	1	0	0
SYAP1	94056	broad.mit.edu	37	X	16775366	16775366	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:16775366G>A	ENST00000380155.3	+	8	958	c.865G>A	c.(865-867)Gat>Aat	p.D289N		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	289										endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					AAATCAGGAAGATCTAAGGAA	0.398000													39	29					0	0	1	0	0
PCGF1	84759	broad.mit.edu	37	2	74734013	74734013	+	Splice_Site	SNP	T	T	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:74734013T>C	ENST00000233630.6	-	3	1111		c.e3-2		PCGF1_ENST00000480844.2_Splice_Site	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1						histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TCTTGCAGACTGCAGGAAAAG	0.527000													18	49					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5440230	5440230	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:5440230C>T	ENST00000345221.3	-	8	3455	c.2901G>A	c.(2899-2901)atG>atA	p.M967I	NLRP1_ENST00000572272.1_Missense_Mutation_p.M967I|NLRP1_ENST00000577119.1_Intron|NLRP1_ENST00000269280.4_Missense_Mutation_p.M967I|NLRP1_ENST00000262467.5_Missense_Mutation_p.M967I|NLRP1_ENST00000354411.3_Intron|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	967					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GTTCCTGCCTCATCTCATCAC	0.622000													14	26					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29821993	29821993	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr10:29821993C>T	ENST00000375398.2	-	10	1752	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	SVIL_ENST00000355867.4_Missense_Mutation_p.E435K|SVIL_ENST00000375400.3_Intron			O95425	SVIL_HUMAN	supervillin	435					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				tcttctccttctccttcccct	0.507000													23	22					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40354269	40354269	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:40354269G>A	ENST00000221347.6	-	35	16207	c.16200C>T	c.(16198-16200)ttC>ttT	p.F5400F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5400	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACCATGGGGAGAAGTCCTGCG	0.557000													13	61					0	0	1	0	0
TAB3	257397	broad.mit.edu	37	X	30873379	30873379	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:30873379G>A	ENST00000378933.1	-	3	580	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	TAB3_ENST00000378930.3_Missense_Mutation_p.P135S|TAB3_ENST00000288422.2_Missense_Mutation_p.P135S|TAB3_ENST00000378932.2_Missense_Mutation_p.P135S	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	135					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TTGTAGTTGGGAGTAGCAGCA	0.443000													28	15					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86912933	86912933	+	Splice_Site	SNP	A	A	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr9:86912933A>C	ENST00000376238.4	-	7	720	c.669_splice	c.e7-1	p.V224_splice	SLC28A3_ENST00000537648.1_Splice_Site_p.V155_splice	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	224					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TCTCCAGTAAACCTATACAGA	0.418000													8	64					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9024166	9024166	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:9024166G>A	ENST00000397910.4	-	18	37309	c.37106C>T	c.(37105-37107)tCa>tTa	p.S12369L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12371					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						TGGAGTCCCTGAGGTTCTGAG	0.473000													5	14					0	0	1	0	0
XXYLT1	152002	broad.mit.edu	37	3	194991445	194991445	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:194991445G>A	ENST00000310380.6	-	1	451	c.343C>T	c.(343-345)Cag>Tag	p.Q115*		NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	115						integral to membrane	transferase activity, transferring glycosyl groups										GCCTTGGCCTGCAGCGCGGCA	0.687000													10	22					0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71046980	71046980	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:71046980C>T	ENST00000272367.2	-	2	181	c.105G>A	c.(103-105)ccG>ccA	p.P35P	CLEC4F_ENST00000426626.1_Silent_p.P35P	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	35					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GAACGAGCCTCGGTATCTTGG	0.567000													12	30					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71190648	71190648	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:71190648C>T	ENST00000418814.2	+	9	1201	c.587C>T	c.(586-588)cCa>cTa	p.P196L	FAM135A_ENST00000370479.3_Missense_Mutation_p.P153L|FAM135A_ENST00000361499.3_Missense_Mutation_p.P196L|FAM135A_ENST00000505868.1_Missense_Mutation_p.P196L|FAM135A_ENST00000457062.2_Missense_Mutation_p.P153L|FAM135A_ENST00000505769.1_Missense_Mutation_p.P196L	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	196										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AGAAATGCACCAGCACAAAAC	0.358000													14	37					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71039096	71039096	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:71039096G>A	ENST00000452400.2	-	19	4049	c.3868C>T	c.(3868-3870)Cgg>Tgg	p.R1290W	NCOA2_ENST00000267974.4_Missense_Mutation_p.R378W	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1290					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGGGGAATCCGAGGGTTGCTC	0.502000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								4	23					0	0	1	0	0
ALMS1P	200420	broad.mit.edu	37	2	73898243	73898243	+	RNA	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:73898243G>A	ENST00000450720.1	+	0	273					NR_003683.2																						GCAACAAGCAGAATGTACACA	0.353000													27	87					0	0	1	0	0
MED11	400569	broad.mit.edu	37	17	4635163	4635163	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:4635163G>A	ENST00000293777.5	+	2	234	c.178G>A	c.(178-180)Gag>Aag	p.E60K	MED11_ENST00000573708.1_Missense_Mutation_p.E60K|RP11-314A20.5_ENST00000570493.2_RNA|MED11_ENST00000575284.1_Missense_Mutation_p.E60K	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	60					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(2)	4						GCAACACGTGGAGGCGGAGCT	0.607000											OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	20					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42510941	42510941	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:42510941G>A	ENST00000262895.3	-	15	1892	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	GRIK5_ENST00000301218.4_Silent_p.I631I|GRIK5_ENST00000593562.1_Silent_p.I631I	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	631						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	AGGAGGAGATGATGATCAAGG	0.647000													8	19					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148905959	148905959	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:148905959G>A	ENST00000264613.6	-	10	2006	c.1744C>T	c.(1744-1746)Cct>Tct	p.P582S	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	582	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AATACTGTAGGAAACAAATAG	0.343000													22	82					0	0	1	0	0
AP4M1	9179	broad.mit.edu	37	7	99704400	99704400	+	Silent	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:99704400C>G	ENST00000429084.1	+	15	1436	c.1278C>G	c.(1276-1278)ctC>ctG	p.L426L	AP4M1_ENST00000422582.1_Silent_p.L291L|AP4M1_ENST00000359593.4_Silent_p.L419L|AP4M1_ENST00000421755.1_Silent_p.L419L			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	419	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTCTGGCCTCCAGGTCCGAT	0.652000													9	55					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89943367	89943367	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:89943367C>T	ENST00000405460.2	+	17	3171	c.3075C>T	c.(3073-3075)ctC>ctT	p.L1025L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1025					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTACAGTTCTCAGAAATGGAT	0.433000													20	40					0	0	1	0	0
ITM2A	9452	broad.mit.edu	37	X	78616833	78616833	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:78616833G>A	ENST00000434584.2	-	4	900	c.564C>T	c.(562-564)ctC>ctT	p.L188L	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000373298.2_Silent_p.L232L	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	232	BRICHOS.					integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						TACCCAGCAAGAGGTCTCTGC	0.433000													31	25					0	0	1	0	0
GATA1	2623	broad.mit.edu	37	X	48650432	48650432	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:48650432G>A	ENST00000376670.3	+	3	513	c.402G>A	c.(400-402)gaG>gaA	p.E134E	GATA1_ENST00000376665.3_Silent_p.E134E	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	134					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GCTTCCTGGAGACTTTGAAGA	0.612000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								15	14					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130774940	130774940	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:130774940T>G	ENST00000276708.4	-	5	1489	c.608A>C	c.(607-609)aAg>aCg	p.K203T		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	203						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AGTCAGCGCCTTCTTCTTCAC	0.473000													50	113					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767646	31767646	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:31767646A>G	ENST00000240587.4	-	2	3380	c.3053T>C	c.(3052-3054)aTa>aCa	p.I1018T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1018					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGTTTGTGCTATCTGACTGTT	0.502000													17	42					0	0	1	0	0
TOR3A	64222	broad.mit.edu	37	1	179063234	179063234	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:179063234C>T	ENST00000367627.3	+	5	1577	c.825C>T	c.(823-825)ctC>ctT	p.L275L	TOR3A_ENST00000352445.6_Silent_p.L275L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	275					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TCAGTAATCTCAGGGGCGATA	0.463000													17	71					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103294652	103294652	+	Splice_Site	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:103294652C>G	ENST00000428762.1	-	13	1601	c.1441_splice	c.e13-1	p.G481_splice	RELN_ENST00000424685.2_Splice_Site_p.G481_splice|RELN_ENST00000343529.5_Splice_Site_p.G481_splice	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	481					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACAAATTCCTCCTGCACAAAA	0.318000													11	34					0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80669404	80669404	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr14:80669404G>A	ENST00000557125.1	-	2	73	c.74C>T	c.(73-75)tCt>tTt	p.S25F	DIO2_ENST00000557010.1_Silent_p.F150F|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000555750.1_Silent_p.F186F|DIO2_ENST00000438257.4_Silent_p.F150F			Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	0					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCACTGAGGAGAACTCTTCCA	0.557000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	15					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42019556	42019556	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr15:42019556C>T	ENST00000219905.7	+	10	3790	c.3609C>T	c.(3607-3609)ctC>ctT	p.L1203L	MGA_ENST00000570161.1_Silent_p.L1203L|MGA_ENST00000545763.1_Silent_p.L1203L|MGA_ENST00000566586.1_Silent_p.L1203L|MGA_ENST00000389936.4_Silent_p.L1203L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1203						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GCAAACTGCTCACTGGAATTA	0.403000													43	118					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27419348	27419348	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:27419348G>A	ENST00000211936.6	-	6	2274	c.1990C>T	c.(1990-1992)Cac>Tac	p.H664Y	ZNF184_ENST00000377419.1_Missense_Mutation_p.H664Y	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCCCCAGTGTGAATTCGTTGA	0.423000													24	45					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184104374	184104374	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:184104374C>G	ENST00000204604.1	+	16	2273	c.2027C>G	c.(2026-2028)tCt>tGt	p.S676C	CHRD_ENST00000450923.1_Missense_Mutation_p.S676C|CHRD_ENST00000348986.3_Missense_Mutation_p.S636C|CHRD_ENST00000545352.1_Intron|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	676					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATACAGCCTCTGCTGCGCCG	0.711000													5	10					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45353208	45353208	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:45353208C>T	ENST00000303230.4	-	5	1428	c.1371G>A	c.(1369-1371)ctG>ctA	p.L457L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	457						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.L457L(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTACCTCTCTCAGAGGATCAT	0.343000													13	32					0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89525944	89525944	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:89525944T>G	ENST00000370473.4	-	3	473	c.254A>C	c.(253-255)cAc>cCc	p.H85P		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	85					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CTTCTTGGGGTGGGGCACACA	0.562000													11	92					0	0	1	0	0
GINS1	9837	broad.mit.edu	37	20	25405913	25405913	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr20:25405913G>A	ENST00000262460.4	+	5	491	c.397G>A	c.(397-399)Ggt>Agt	p.G133S	GINS1_ENST00000429262.2_3'UTR	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	133					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		p.G133R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						AGGAGATGAAGGTTTGGACAT	0.313000													3	38					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61012605	61012605	+	Missense_Mutation	SNP	C	C	T	rs147340549	by1000genomes	TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr10:61012605C>T	ENST00000373867.3	-	13	1699	c.1234G>A	c.(1234-1236)Gta>Ata	p.V412I	FAM13C_ENST00000442566.3_Missense_Mutation_p.V517I|FAM13C_ENST00000435852.2_Missense_Mutation_p.V496I|FAM13C_ENST00000419214.2_Missense_Mutation_p.V398I|FAM13C_ENST00000277705.6_Missense_Mutation_p.V516I|FAM13C_ENST00000373868.2_Missense_Mutation_p.V496I|FAM13C_ENST00000468840.2_Missense_Mutation_p.V413I	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	496										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGTGGTTTTACTTCTTTCTTT	0.453000													3	42					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51411927	51411927	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:51411927G>A	ENST00000266037.9	+	50	5344	c.5321G>A	c.(5320-5322)cGc>cAc	p.R1774H		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1774						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GATAAGTACCGCCATGCCCGT	0.537000													4	11					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14368963	14368963	+	Silent	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:14368963C>G	ENST00000344204.4	+	17	3045	c.3021C>G	c.(3019-3021)ctC>ctG	p.L1007L	TRIO_ENST00000537187.1_Silent_p.L1007L|TRIO_ENST00000509967.2_Silent_p.L958L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1007					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AAGATCGCCTCAAGCTCGTCA	0.522000													10	68					0	0	1	0	0
SFXN4	119559	broad.mit.edu	37	10	120917539	120917539	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr10:120917539C>A	ENST00000355697.2	-	7	415	c.396G>T	c.(394-396)aaG>aaT	p.K132N	SFXN4_ENST00000330036.6_Missense_Mutation_p.K123N|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	132					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		AAATCACGGACTTGATCCCTT	0.428000													8	52					5.4927e-09	5.71154e-09	1	1	0
MYH8	4626	broad.mit.edu	37	17	10301955	10301955	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:10301955G>A	ENST00000403437.2	-	30	4078	c.3984C>T	c.(3982-3984)gcC>gcT	p.A1328A	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1328					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGGCGTTCTTGGCCTGCAGAA	0.507000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				30	45					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121354670	121354670	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:121354670G>A	ENST00000297848.3	+	44	5143	c.4873G>A	c.(4873-4875)Gaa>Aaa	p.E1625K	COL14A1_ENST00000247781.3_Missense_Mutation_p.E1530K|COL14A1_ENST00000309791.4_Missense_Mutation_p.E1625K	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1625					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCAAGTATGCGAACAGCTCAT	0.478000													14	33					0	0	1	0	0
LRRC48	83450	broad.mit.edu	37	17	17891328	17891328	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:17891328G>A	ENST00000313838.8	+	6	739	c.360G>A	c.(358-360)cgG>cgA	p.R120R	LRRC48_ENST00000584166.1_Silent_p.R120R|LRRC48_ENST00000411504.2_Silent_p.R120R|LRRC48_ENST00000399182.1_Silent_p.R120R|LRRC48_ENST00000399187.1_Silent_p.R120R	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	120						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TCAACAACCGGATCTCCAAGA	0.557000													4	45					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130220635	130220635	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:130220635T>A	ENST00000276211.5	+	11	1827	c.1482T>A	c.(1480-1482)gaT>gaA	p.D494E	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.D482E|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.D358E	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	494					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						AGCCTTCTGATGAAGGTCAGT	0.537000													7	32					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153215717	153215717	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:153215717G>A	ENST00000310441.7	-	24	6947	c.5981C>T	c.(5980-5982)gCc>gTc	p.A1994V	HCFC1_ENST00000354233.3_Missense_Mutation_p.A1925V|HCFC1_ENST00000369984.4_Missense_Mutation_p.A2039V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1994					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACTTGTGTGGCCGGGCCATA	0.622000													26	11					0	0	1	0	0
MROH9	80133	broad.mit.edu	37	1	170959143	170959143	+	Splice_Site	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:170959143G>A	ENST00000367759.4	+	11	1181	c.1028_splice	c.e11+1	p.D343_splice	MROH9_ENST00000367758.3_Splice_Site_p.D343_splice	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		TCCAGCAGACGAGTAAGGCCC	0.488000													6	22					0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8758041	8758041	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:8758041G>A	ENST00000229335.6	-	3	300	c.197C>T	c.(196-198)tCg>tTg	p.S66L	AICDA_ENST00000537228.1_Missense_Mutation_p.S66L	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	66					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GTCCCAGTCCGAGATGTAGCG	0.587000													17	126					0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	25944551	25944551	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:25944551C>T	ENST00000374332.4	+	1	593	c.263C>T	c.(262-264)gCg>gTg	p.A88V	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	88					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		gcccccgccgcgccggccccg	0.786000													4	7					0	0	1	0	0
CLOCK	9575	broad.mit.edu	37	4	56310930	56310930	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr4:56310930C>A	ENST00000309964.4	-	18	1812	c.1562G>T	c.(1561-1563)gGa>gTa	p.G521V	CLOCK_ENST00000513440.1_Missense_Mutation_p.G521V|CLOCK_ENST00000381322.1_Missense_Mutation_p.G521V	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	521	Implicated in the circadian rhythmicity (By similarity).				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TTGCATGGCTCCTAATTGAGC	0.338000													19	24					6.49762e-13	6.92195e-13	1	1	0
HACL1	26061	broad.mit.edu	37	3	15613185	15613185	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:15613185G>A	ENST00000321169.5	-	12	1452	c.1085C>T	c.(1084-1086)gCt>gTt	p.A362V	HACL1_ENST00000435217.2_Missense_Mutation_p.A121V|HACL1_ENST00000451445.2_Missense_Mutation_p.A280V|HACL1_ENST00000457447.2_Intron|HACL1_ENST00000456194.2_Missense_Mutation_p.A335V	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	362					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CTTGGATGCAGCTTCATTGCT	0.408000													15	76					0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131915735	131915735	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:131915735G>A	ENST00000378823.3	+	5	1134	c.316G>A	c.(316-318)Gag>Aag	p.E106K	RAD50_ENST00000487596.1_3'UTR|RAD50_ENST00000265335.6_Missense_Mutation_p.E245K	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	245					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAAATCCTATGAGAATGAACT	0.294000								Homologous recombination					33	66					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182835672	182835672	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:182835672G>A	ENST00000367549.3	+	13	1536	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	476	Helicase ATP-binding.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CGTTCGATTTGAGTCTATACT	0.428000													57	151					0	0	1	0	0
HOXC11	3227	broad.mit.edu	37	12	54367025	54367025	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:54367025G>A	ENST00000546378.1	+	0	116				HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_De_novo_Start_InFrame|HOTAIR_ENST00000455246.1_RNA			O43248	HXC11_HUMAN	homeobox C11						endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						AGAGGAGAACGATGTTTAACT	0.592000			T	NUP98	AML								6	17					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11696943	11696943	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:11696943G>C	ENST00000262442.3	+	42	8253	c.8185G>C	c.(8185-8187)Gat>Cat	p.D2729H	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2729H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2729					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGATCTTTTTGATAAAATCCA	0.323000													13	36					0	0	1	0	0
SHARPIN	81858	broad.mit.edu	37	8	145154328	145154328	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:145154328G>A	ENST00000398712.2	-	6	1210	c.774C>T	c.(772-774)ttC>ttT	p.F258F		NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	258	Interaction with SHANK1 (By similarity).|Ubiquitin-like.				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGAGCTCTGAGAACACCTGTG	0.652000													9	27					0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57147439	57147439	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr18:57147439G>A	ENST00000439986.4	-	3	281	c.244C>T	c.(244-246)Ctt>Ttt	p.L82F	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	82					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CATTGTCCAAGAACAAATTTA	0.284000													27	24					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167033577	167033577	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:167033577G>C	ENST00000392766.2	-	15	1575	c.1235C>G	c.(1234-1236)cCt>cGt	p.P412R	ZBBX_ENST00000307529.5_Missense_Mutation_p.P412R|ZBBX_ENST00000392764.1_Missense_Mutation_p.P383R|ZBBX_ENST00000392767.2_Missense_Mutation_p.P412R|ZBBX_ENST00000455345.2_Missense_Mutation_p.P412R	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	412						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						AACTTTGTAAGGCACAATATT	0.303000													10	41					0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30665567	30665567	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr16:30665567A>G	ENST00000542965.2	+	6	1021	c.565A>G	c.(565-567)Ata>Gta	p.I189V	PRR14_ENST00000300835.4_Missense_Mutation_p.I189V			Q9BWN1	PRR14_HUMAN	proline rich 14	189	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GCCCATGAGGATAGTTCGCCA	0.587000													15	239					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184005699	184005699	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:184005699C>T	ENST00000402825.3	+	11	1692	c.1692C>T	c.(1690-1692)ttC>ttT	p.F564F	ECE2_ENST00000359140.4_Silent_p.F417F|ECE2_ENST00000357474.5_Silent_p.F492F|ECE2_ENST00000404464.3_Silent_p.F446F|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	564	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTCCCTCTTCGTGAAGGCCA	0.498000													15	58					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530936	80530936	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:80530936G>A	ENST00000295057.3	-	2	665	c.9C>T	c.(7-9)ttC>ttT	p.F3F	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.F3F	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	3						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						CGAGCAGCAGGAAATCCATTA	0.557000										HNSCC(69;0.2)			11	42					0	0	1	0	0
XRCC4	7518	broad.mit.edu	37	5	82491695	82491695	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:82491695A>C	ENST00000282268.3	+	4	597	c.422A>C	c.(421-423)aAt>aCt	p.N141T	XRCC4_ENST00000511817.1_Missense_Mutation_p.N141T|XRCC4_ENST00000396027.4_Missense_Mutation_p.N141T|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000338635.6_Missense_Mutation_p.N141T	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	141					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		CAAGCCAAAAATGAGCACCTG	0.403000								Non-homologous end-joining					10	72					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167645222	167645222	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:167645222G>A	ENST00000519204.1	+	22	4081	c.3963G>A	c.(3961-3963)gaG>gaA	p.E1321E	TENM2_ENST00000520394.1_Silent_p.E1203E|TENM2_ENST00000545108.1_Silent_p.E1441E|TENM2_ENST00000403607.2_Silent_p.E1266E|TENM2_ENST00000518659.1_Silent_p.E1442E					teneurin transmembrane protein 2																		GAATCACCGAGAACCACCAAG	0.507000													43	110					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48689469	48689469	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:48689469C>T	ENST00000544264.1	-	12	6044	c.5764G>A	c.(5764-5766)Ggc>Agc	p.G1922S	CELSR3_ENST00000164024.4_Missense_Mutation_p.G1922S			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1922	Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTGTGGAGCCGAGCCACACC	0.647000													3	28					0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5290881	5290881	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr11:5290881G>T	ENST00000380237.1	-	4	462	c.118C>A	c.(118-120)Cag>Aag	p.Q40K	HBE1_ENST00000292896.2_Missense_Mutation_p.Q40K|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	40					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAAATCTCTGGGTCCAGGGG	0.463000													17	41					4.7546e-09	4.96381e-09	1	1	0
MBOAT7	79143	broad.mit.edu	37	19	54677887	54677887	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:54677887G>A	ENST00000245615.1	-	8	1750	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W	MBOAT7_ENST00000431666.2_Missense_Mutation_p.R351W|MBOAT7_ENST00000338624.6_Missense_Mutation_p.R351W	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	424					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCAGTACCGAAGGGTGTCG	0.647000													17	102					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61234050	61234050	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr18:61234050T>C	ENST00000382768.1	+	7	1084	c.1084T>C	c.(1084-1086)Tca>Cca	p.S362P	SERPINB12_ENST00000269491.1_Missense_Mutation_p.S342P			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	342					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTTGTACTTGTCAAAAATTAT	0.448000													32	136					0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44222839	44222839	+	Silent	SNP	C	C	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:44222839C>A	ENST00000244314.5	+	2	328	c.129C>A	c.(127-129)ctC>ctA	p.L43L		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	43						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CCTCTCACCTCCAGGAGCTGC	0.667000													34	48					6.53348e-20	7.04644e-20	1	1	0
GNL1	2794	broad.mit.edu	37	6	30521243	30521243	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:30521243G>A	ENST00000376621.3	-	6	1662	c.692C>T	c.(691-693)cCg>cTg	p.P231L		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	231					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AAGAGCTGGCGGGGCCAGATC	0.542000													30	82					0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6599185	6599185	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:6599185C>A	ENST00000433363.2	-	7	1148	c.915G>T	c.(913-915)gaG>gaT	p.E305D	SLC13A5_ENST00000381074.4_Missense_Mutation_p.E262D|SLC13A5_ENST00000293800.6_Missense_Mutation_p.E288D|SLC13A5_ENST00000573648.1_Missense_Mutation_p.E305D	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	305						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GCTTCCGGTACTCCTCCTGCA	0.557000													33	84					3.21399e-22	3.49522e-22	1	1	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													3	21					0	0	1	0	0
HTR3D	200909	broad.mit.edu	37	3	183756393	183756393	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:183756393C>T	ENST00000382489.3	+	7	1116	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	HTR3D_ENST00000453435.1_Silent_p.L151L|HTR3D_ENST00000428798.2_Silent_p.L322L|HTR3D_ENST00000334128.2_Silent_p.L197L	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	372						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCCCGGGTCTCACCCCCACCC	0.642000													4	30					0	0	1	0	0
SPDEF	25803	broad.mit.edu	37	6	34507128	34507128	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:34507128G>A	ENST00000374037.3	-	5	1142	c.728C>T	c.(727-729)tCa>tTa	p.S243L	SPDEF_ENST00000544425.1_Missense_Mutation_p.S227L	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	243					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CCCGGAGCATGATGAGTCCAC	0.622000													42	126					0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159129394	159129394	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:159129394G>A	ENST00000297239.9	+	7	681	c.487G>A	c.(487-489)Gag>Aag	p.E163K	SYTL3_ENST00000360448.3_Missense_Mutation_p.E163K|SYTL3_ENST00000367081.3_Intron			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	163					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TCCTGTCAGCGAGAGCCAGTG	0.517000													18	45					0	0	1	0	0
TTC23	64927	broad.mit.edu	37	15	99758831	99758831	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr15:99758831C>T	ENST00000394132.2	-	8	1360	c.543G>A	c.(541-543)tgG>tgA	p.W181*	TTC23_ENST00000394129.2_Nonsense_Mutation_p.W181*|TTC23_ENST00000394135.3_Nonsense_Mutation_p.W181*|TTC23_ENST00000558663.1_Nonsense_Mutation_p.W181*|TTC23_ENST00000394130.1_Nonsense_Mutation_p.W181*|TTC23_ENST00000262074.4_Nonsense_Mutation_p.W181*|TTC23_ENST00000558613.1_Nonsense_Mutation_p.W181*|TTC23_ENST00000394136.1_Nonsense_Mutation_p.W181*			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	181							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			CAATTTCTATCCATTCTTCCT	0.383000													90	62					0	0	1	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57994655	57994655	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:57994655G>A	ENST00000354947.5	+	8	891	c.875G>A	c.(874-876)cGg>cAg	p.R292Q	PIP4K2C_ENST00000540759.2_Missense_Mutation_p.R292Q|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.R244Q|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.R274Q			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	292	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GACATCATTCGGGGCTCTGAA	0.562000													71	151					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8619446	8619446	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:8619446C>T	ENST00000338257.8	-	4	508	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	81	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGGGGATTCTCATACTGGGCC	0.617000													23	47					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80863819	80863819	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:80863819G>A	ENST00000355528.4	+	20	1942	c.1812G>A	c.(1810-1812)ccG>ccA	p.P604P	TBCD_ENST00000539345.2_Silent_p.P604P|TBCD_ENST00000397466.2_Silent_p.P218P	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	604					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CAGTCTTCCCGAGGCTGCTGT	0.607000													8	10					0	0	1	0	0
TUBG2	27175	broad.mit.edu	37	17	40812702	40812702	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:40812702G>A	ENST00000251412.7	+	4	575	c.376G>A	c.(376-378)Gca>Aca	p.A126T		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	126					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		AGACCGAGAAGCAGATGGAAG	0.507000													10	11					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45221110	45221110	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr20:45221110G>C	ENST00000279027.4	-	6	871	c.853C>G	c.(853-855)Ctt>Gtt	p.L285V	SLC13A3_ENST00000372121.1_Intron|SLC13A3_ENST00000290317.5_Missense_Mutation_p.L238V|SLC13A3_ENST00000472148.1_Missense_Mutation_p.L238V|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000495082.1_Missense_Mutation_p.L238V|SLC13A3_ENST00000413164.2_Intron|SLC13A3_ENST00000396360.1_Missense_Mutation_p.L238V	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	285						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AACAGCATAAGAGGGAAGGCG	0.522000													7	27					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89392799	89392799	+	RNA	SNP	G	G	A	rs10830330	by1000genomes	TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr11:89392799G>A	ENST00000532352.1	+	0	622							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CTATCCAGACGGTTGGAATCT	0.512000													3	31					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672489	186672489	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:186672489G>A	ENST00000343098.5	+	17	18723	c.18723G>A	c.(18721-18723)aaG>aaA	p.K6241K	FSIP2_ENST00000424728.1_Silent_p.K6152K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCGTTGAAAAGATCCTTAAAG	0.393000													16	38					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546807	11546807	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:11546807G>C	ENST00000389362.4	-	3	240	c.205C>G	c.(205-207)Caa>Gaa	p.Q69E	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGGACCTTGAGGCTGGTTG	0.607000													69	490					0	0	1	0	0
DZIP1L	199221	broad.mit.edu	37	3	137816636	137816636	+	Silent	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:137816636G>T	ENST00000327532.2	-	3	917	c.555C>A	c.(553-555)atC>atA	p.I185I	DZIP1L_ENST00000469243.1_Silent_p.I185I	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	185						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						gcctgcgctggatgtggcccc	0.577000											OREG0015831	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	30					0.27861	0.27861	1	1	0
COPA	1314	broad.mit.edu	37	1	160303419	160303419	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:160303419C>T	ENST00000241704.7	-	5	589	c.360G>A	c.(358-360)tgG>tgA	p.W120*	COPA_ENST00000368069.3_Nonsense_Mutation_p.W120*	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	120					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTGCCAGTTCCACACTCGGA	0.413000													22	44					0	0	1	0	0
SLC33A1	9197	broad.mit.edu	37	3	155560316	155560316	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:155560316C>T	ENST00000392845.2	-	2	1248	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	SLC33A1_ENST00000359479.3_Missense_Mutation_p.E290K	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	290					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCTTGTGTTTCTTCTTTTACT	0.338000													6	46					0	0	1	0	0
MMP17	4326	broad.mit.edu	37	12	132325377	132325377	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:132325377G>A	ENST00000360564.1	+	4	784	c.682G>A	c.(682-684)Gag>Aag	p.E228K	MMP17_ENST00000535182.1_3'UTR|MMP17_ENST00000535291.1_Missense_Mutation_p.E144K	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	228					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		TGACGATGACGAGGCCTGGAC	0.711000													7	21					0	0	1	0	0
KLF14	136259	broad.mit.edu	37	7	130417929	130417929	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:130417929G>A	ENST00000310992.4	-	1	959	c.932C>T	c.(931-933)tCc>tTc	p.S311F		NM_138693.2	NP_619638.1	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GCCGGGACCGGAGCCGGAGGC	0.627000													3	14					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	79878679	79878679	+	Splice_Site	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:79878679G>A	ENST00000361291.4	+	2	99	c.97_splice	c.e2-1	p.G33_splice	CTNNA2_ENST00000402739.4_5'UTR|CTNNA2_ENST00000409266.1_5'UTR|CTNNA2_ENST00000466387.1_5'UTR|CTNNA2_ENST00000496558.1_5'UTR			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	0					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TTCCCATAGGGAGCATGACTT	0.388000													19	40					0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158115563	158115563	+	Silent	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:158115563G>C	ENST00000259056.4	+	1	1454	c.969G>C	c.(967-969)gtG>gtC	p.V323V		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	323					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GCCATCTTGTGATTATAACCA	0.388000													27	72					0	0	1	0	0
LCN2	3934	broad.mit.edu	37	9	130914289	130914289	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr9:130914289A>C	ENST00000540948.1	+	4	533	c.460A>C	c.(460-462)Aag>Cag	p.K154Q	LCN2_ENST00000277480.2_Missense_Mutation_p.K154Q|LCN2_ENST00000373013.2_Missense_Mutation_p.K156Q|LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000372998.1_Missense_Mutation_p.K156Q|LCN2_ENST00000373017.1_Missense_Mutation_p.K154Q			P80188	NGAL_HUMAN	lipocalin 2	154					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						GGAGTACTTCAAGATCACCCT	0.547000													24	79					0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86919185	86919185	+	Silent	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:86919185G>T	ENST00000370565.4	+	13	2451	c.2289G>T	c.(2287-2289)gtG>gtT	p.V763V	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	763					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACCCTGATGTGTTTCCACCAT	0.517000													22	61					1.10513e-12	1.17252e-12	1	1	0
CNBD1	168975	broad.mit.edu	37	8	88363940	88363940	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:88363940C>G	ENST00000518476.1	+	9	1121	c.1070C>G	c.(1069-1071)tCt>tGt	p.S357C		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	357										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AATATAATTTCTTTTGTGGGT	0.274000													3	7					0	0	1	0	0
TRMT2B	79979	broad.mit.edu	37	X	100290613	100290613	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:100290613G>C	ENST00000338687.7	-	6	1268	c.463C>G	c.(463-465)Caa>Gaa	p.Q155E	TRMT2B_ENST00000372939.1_Missense_Mutation_p.Q155E|TRMT2B_ENST00000545398.1_Missense_Mutation_p.Q200E|TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372931.5_Missense_Mutation_p.Q200E|TRMT2B_ENST00000372935.1_Missense_Mutation_p.Q200E|TRMT2B_ENST00000372936.3_Missense_Mutation_p.Q200E			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	200							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TGCGCCACTTGACTGTGTTTC	0.393000													24	31					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056817	9056817	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:9056817G>A	ENST00000397910.4	-	3	30832	c.30629C>T	c.(30628-30630)tCa>tTa	p.S10210L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10212	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						GTCTGGGGATGATGTTTTTGC	0.468000													11	48					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35668562	35668562	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr20:35668562G>A	ENST00000373664.3	-	14	1963	c.1897C>T	c.(1897-1899)Cga>Tga	p.R633*	RBL1_ENST00000344359.3_Nonsense_Mutation_p.R633*	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	633	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CTACCTCTTCGAAGACTCCCA	0.413000													33	83					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32088427	32088427	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:32088427C>G	ENST00000438447.1	+	20	5261	c.4873C>G	c.(4873-4875)Cct>Gct	p.P1625A	PDZD2_ENST00000282493.3_Missense_Mutation_p.P1625A			O15018	PDZD2_HUMAN	PDZ domain containing 2	1625					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGCCATCTGTCCTGCCTCAGC	0.557000													54	124					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291674	141291674	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:141291674C>T	ENST00000247452.3	-	3	447	c.100G>A	c.(100-102)Gag>Aag	p.E34K		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	34	Poly-Glu.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTTCCTCATCTGTGGGA	0.522000										HNSCC(46;0.14)			45	41					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20243630	20243630	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr20:20243630C>G	ENST00000245957.5	+	21	2435	c.2359C>G	c.(2359-2361)Caa>Gaa	p.Q787E	C20orf26_ENST00000389656.3_Missense_Mutation_p.Q143E|RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000377309.2_Missense_Mutation_p.Q143E|C20orf26_ENST00000377293.1_Missense_Mutation_p.Q143E	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	787										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGATATTAGTCAACACCTGAC	0.443000													12	31					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3880020	3880020	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr18:3880020C>T	ENST00000315677.3	-	4	644	c.49G>A	c.(49-51)Gac>Aac	p.D17N	DLGAP1_ENST00000581527.1_Missense_Mutation_p.D17N|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.D17N|DLGAP1_ENST00000584874.1_Missense_Mutation_p.D17N	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	17					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)				CAGGCCGAGTCGCAGGTGACC	0.662000													14	29					0	0	1	0	0
TRGV3	6976	broad.mit.edu	37	7	38398224	38398224	+	RNA	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:38398224G>C	ENST00000390346.2	-	0	425																											TTCCTGGACTGAGTCCTGATT	0.483000													28	78					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78882729	78882729	+	Splice_Site	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:78882729G>A	ENST00000306801.3	+	21	2882	c.2520_splice	c.e21+1	p.K840_splice	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Splice_Site_p.K682_splice	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	840					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCGCCTACAAGGTACGTGCCG	0.587000													35	103					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43547845	43547845	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr21:43547845C>T	ENST00000400427.1	+	19	4158	c.3762C>T	c.(3760-3762)ttC>ttT	p.F1254F	UMODL1_ENST00000400424.1_Silent_p.F1126F|UMODL1_ENST00000408989.2_Silent_p.F1326F|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408910.2_Silent_p.F1198F	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1198						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AGGCCCAGTTCAAGCTGAGGA	0.517000													12	47					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191874723	191874723	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:191874723G>A	ENST00000361099.3	-	3	394	c.7C>T	c.(7-9)Cag>Tag	p.Q3*	STAT1_ENST00000409465.1_Nonsense_Mutation_p.Q3*|STAT1_ENST00000392322.3_Nonsense_Mutation_p.Q3*|STAT1_ENST00000392323.2_Nonsense_Mutation_p.Q5*|STAT1_ENST00000540176.1_Nonsense_Mutation_p.Q3*	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	3					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TCGTACCACTGAGACATCCTA	0.403000													18	22					0	0	1	0	0
LSG1	55341	broad.mit.edu	37	3	194362968	194362968	+	Silent	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:194362968C>G	ENST00000265245.5	-	14	2120	c.1806G>C	c.(1804-1806)gtG>gtC	p.V602V	AC046143.3_ENST00000447139.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	602					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TCAAAGCCCTCACATTCTCCT	0.488000													14	53					0	0	1	0	0
GPRASP2	114928	broad.mit.edu	37	X	101971015	101971015	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:101971015C>G	ENST00000543253.1	+	5	2137	c.1218C>G	c.(1216-1218)atC>atG	p.I406M	GPRASP2_ENST00000332262.5_Missense_Mutation_p.I406M|GPRASP2_ENST00000535209.1_Missense_Mutation_p.I406M	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CTTCAGCAATCTGTGAATCTG	0.547000													3	37					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112438963	112438963	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:112438963C>G	ENST00000230538.7	-	35	5357	c.4960G>C	c.(4960-4962)Gaa>Caa	p.E1654Q	LAMA4_ENST00000424408.2_Missense_Mutation_p.E1647Q|LAMA4_ENST00000522006.1_Missense_Mutation_p.E1647Q|LAMA4_ENST00000389463.4_Missense_Mutation_p.E1647Q	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1654	Laminin G-like 5.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TATCCTCCTTCTGTTGAAAAG	0.458000													33	94					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130774941	130774941	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:130774941T>C	ENST00000276708.4	-	5	1488	c.607A>G	c.(607-609)Aag>Gag	p.K203E		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	203						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GTCAGCGCCTTCTTCTTCACT	0.468000													50	113					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614473	3614473	+	RNA	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr16:3614473C>T	ENST00000301749.7	-	0	870				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGAAGTGCCTCACCAGGGTGG	0.657000													32	13					0	0	1	0	0
NEDD1	121441	broad.mit.edu	37	12	97345265	97345265	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:97345265C>T	ENST00000266742.4	+	15	2206	c.1867C>T	c.(1867-1869)Cat>Tat	p.H623Y	NEDD1_ENST00000429527.2_Missense_Mutation_p.H623Y|NEDD1_ENST00000411739.2_Missense_Mutation_p.H534Y|NEDD1_ENST00000457368.2_Missense_Mutation_p.H534Y|NEDD1_ENST00000557644.1_Missense_Mutation_p.H630Y	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	623					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TAAACAGTTTCATATGCAACT	0.274000													10	30					0	0	1	0	0
KLF6	1316	broad.mit.edu	37	10	3822362	3822362	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr10:3822362C>G	ENST00000497571.1	-	3	996	c.736G>C	c.(736-738)Gag>Cag	p.E246Q	KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Intron	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	246					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)		CTGGTTAACTCATCACTTCTT	0.542000													24	80					0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855801	79855801	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:79855801G>T	ENST00000338682.3	-	5	710	c.38C>A	c.(37-39)tCc>tAc	p.S13Y		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	13						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TTTGATCAAGGAATTTCCTTC	0.458000													15	58					1.5739e-10	1.66311e-10	1	1	0
BTBD7	55727	broad.mit.edu	37	14	93709138	93709138	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr14:93709138G>A	ENST00000334746.5	-	11	3187	c.2880C>T	c.(2878-2880)ctC>ctT	p.L960L	BTBD7_ENST00000393170.2_Silent_p.L534L|BTBD7_ENST00000554565.1_Silent_p.L609L	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	960										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGCGTCTGCTGAGAGCAGGAG	0.478000													24	34					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49694791	49694791	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:49694791G>A	ENST00000296452.4	+	5	7916	c.7802G>A	c.(7801-7803)cGa>cAa	p.R2601Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2601	Poly-Arg.				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TTGAGTCGGCGACGCCGGGCA	0.647000													14	32					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43483921	43483921	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:43483921G>A	ENST00000395891.1	+	11	1755	c.1150G>A	c.(1150-1152)Gca>Aca	p.A384T	HECW1_ENST00000453890.1_Missense_Mutation_p.A384T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	384					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCGGTCTGAGGCACCAGAGTC	0.577000													17	29					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113569178	113569178	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:113569178C>T	ENST00000297405.5	-	25	4292	c.4048G>A	c.(4048-4050)Gaa>Aaa	p.E1350K	CSMD3_ENST00000352409.3_Missense_Mutation_p.E1350K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E1310K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E1246K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1350						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTGAGAGTTCAAAACCTGGG	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	22					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66945110	66945110	+	Silent	SNP	C	C	G	rs148829305		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr16:66945110C>G	ENST00000299752.4	-	14	2092	c.1899G>C	c.(1897-1899)acG>acC	p.T633T	CDH16_ENST00000394055.3_Silent_p.T633T|CDH16_ENST00000568632.1_Silent_p.T536T|CDH16_ENST00000565796.1_Silent_p.T633T|CDH16_ENST00000570262.1_Silent_p.T553T	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	633	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCACAAGCACCGTGTAGGTGT	0.612000													9	18					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728762	20728762	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:20728762G>A	ENST00000427401.4	-	4	341	c.247C>T	c.(247-249)Cga>Tga	p.R83*		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	83					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CAAAGATCTCGGGCAAAATGA	0.328000													3	20					0	0	1	0	0
CYB5R2	51700	broad.mit.edu	37	11	7689018	7689018	+	Missense_Mutation	SNP	G	G	A	rs149733078		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr11:7689018G>A	ENST00000533558.1	-	7	1055	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	CYB5R2_ENST00000524790.1_Missense_Mutation_p.R167C|CYB5R2_ENST00000299498.6_Missense_Mutation_p.R167C|CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000299497.9_Missense_Mutation_p.R167C			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	167					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTGATGTGGCGAATGAGCTGC	0.552000													19	68					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11135091	11135091	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:11135091G>A	ENST00000358026.2	+	21	3342	c.3058G>A	c.(3058-3060)Gat>Aat	p.D1020N	SMARCA4_ENST00000444061.3_Missense_Mutation_p.D1020N|SMARCA4_ENST00000429416.3_Missense_Mutation_p.D1020N|SMARCA4_ENST00000413806.3_Missense_Mutation_p.D1020N|SMARCA4_ENST00000450717.3_Missense_Mutation_p.D1020N|SMARCA4_ENST00000344626.4_Missense_Mutation_p.D1020N|SMARCA4_ENST00000589677.1_Missense_Mutation_p.D1020N|SMARCA4_ENST00000541122.2_Missense_Mutation_p.D1020N|SMARCA4_ENST00000590574.1_Missense_Mutation_p.D1020N	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1020					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCTGCTGACTGATGGCTCCGA	0.627000			"""F, N, Mis"""		NSCLC								15	26					0	0	1	0	0
KIAA0513	9764	broad.mit.edu	37	16	85106591	85106591	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr16:85106591G>T	ENST00000566428.1	+	4	1121	c.490G>T	c.(490-492)Gtg>Ttg	p.V164L	KIAA0513_ENST00000567328.1_Missense_Mutation_p.V164L|KIAA0513_ENST00000258180.3_Missense_Mutation_p.V164L|KIAA0513_ENST00000538274.1_Missense_Mutation_p.V164L			O60268	K0513_HUMAN	KIAA0513	164						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		GTCTTTTGCAGTGGTGCTGTT	0.567000													20	65					8.04996e-18	8.64625e-18	1	1	0
TBC1D10A	83874	broad.mit.edu	37	22	30722748	30722748	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr22:30722748G>A	ENST00000215790.7	-	1	287	c.123C>T	c.(121-123)ctC>ctT	p.L41L	TBC1D10A_ENST00000490449.1_5'UTR|TBC1D10A_ENST00000403477.3_Silent_p.L41L	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	41						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGTCAGACCCGAGAGAGCTGA	0.731000													12	34					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204009620	204009620	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:204009620G>C	ENST00000449802.1	+	31	5392	c.5059G>C	c.(5059-5061)Gaa>Caa	p.E1687Q		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1687							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGTTTACATTGAAAAATATGT	0.259000													6	8					0	0	1	0	0
NR1I2	8856	broad.mit.edu	37	3	119528935	119528935	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:119528935G>A	ENST00000393716.2	+	3	2064	c.225G>A	c.(223-225)ctG>ctA	p.L75L	NR1I2_ENST00000466380.1_Silent_p.L75L|NR1I2_ENST00000337940.4_Silent_p.L114L	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	75					drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	ACGCCCGGCTGAGGTGCCCCT	0.697000													10	58					0	0	1	0	0
PTRF	284119	broad.mit.edu	37	17	40574759	40574759	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:40574759G>A	ENST00000357037.5	-	1	776	c.357C>T	c.(355-357)gtC>gtT	p.V119V		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	119					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		TCTTCACGTTGACGCTGACCT	0.642000													3	12					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43847849	43847849	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:43847849G>T	ENST00000389420.3	-	12	1620	c.1621C>A	c.(1621-1623)Cgt>Agt	p.R541S	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R541S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	541	Disintegrin.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGCCCATGACGGCAATGCTAT	0.368000													8	27					0.00448238	0.00455215	1	1	0
ADCY1	107	broad.mit.edu	37	7	45753517	45753517	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:45753517G>A	ENST00000297323.7	+	20	3305	c.3283G>A	c.(3283-3285)Gtc>Atc	p.V1095I		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1095					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CATGCCTGGCGTCTCAGTCAG	0.652000													19	57					0	0	1	0	0
TMEM168	64418	broad.mit.edu	37	7	112412901	112412901	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:112412901C>G	ENST00000312814.5	-	4	2041	c.1481G>C	c.(1480-1482)aGa>aCa	p.R494T	TMEM168_ENST00000454074.1_Missense_Mutation_p.R494T	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	494						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CGTATCATGTCTGGGTCCATC	0.443000													21	51					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248005106	248005106	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:248005106G>T	ENST00000355784.2	-	1	148	c.93C>A	c.(91-93)ttC>ttA	p.F31L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGATGAGCAGGAAAATGACAA	0.507000													11	36					5.50884e-06	5.68303e-06	1	1	0
TMC8	147138	broad.mit.edu	37	17	76134712	76134712	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:76134712G>A	ENST00000318430.5	+	14	2096	c.1722G>A	c.(1720-1722)gtG>gtA	p.V574V	TMC8_ENST00000591144.1_3'UTR|TMC8_ENST00000589691.1_Silent_p.V351V	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	574						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CCTGGCAAGTGGTCCCGGAGC	0.657000													27	75					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72397811	72397811	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr4:72397811C>T	ENST00000340595.3	+	14	2263	c.2067C>T	c.(2065-2067)atC>atT	p.I689I	SLC4A4_ENST00000351898.6_Silent_p.I733I|SLC4A4_ENST00000264485.5_Silent_p.I733I|SLC4A4_ENST00000425175.1_Silent_p.I733I	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	733						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTGCCATTATCTTGTCCATTC	0.378000													13	38					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71494584	71494584	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:71494584C>T	ENST00000296755.7	+	5	5700	c.5402C>T	c.(5401-5403)tCa>tTa	p.S1801L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1801						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCTACTTTTTCAGATTCTACC	0.473000													13	63					0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45769536	45769536	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:45769536G>A	ENST00000300843.4	+	7	843	c.546G>A	c.(544-546)ctG>ctA	p.L182L	MARK4_ENST00000262891.4_Silent_p.L182L	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	182	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ACAGGGACCTGAAGGTAAGCC	0.562000													61	76					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158140039	158140039	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:158140039C>T	ENST00000313708.6	-	13	1590	c.1308G>A	c.(1306-1308)gtG>gtA	p.V436V	EBF1_ENST00000517373.1_Silent_p.V428V|EBF1_ENST00000380654.4_Silent_p.V405V|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	436					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAACGAATTCACGCCCATCA	0.577000			T	HMGA2	lipoma								22	45					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128483349	128483349	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:128483349G>A	ENST00000325888.8	+	17	2878	c.2617G>A	c.(2617-2619)Gag>Aag	p.E873K	FLNC_ENST00000346177.6_Missense_Mutation_p.E873K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	873					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGTCAAGGCCGAGGGCCCTGG	0.642000													4	9					0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8212581	8212581	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:8212581C>T	ENST00000307637.4	-	2	404	c.201G>A	c.(199-201)gcG>gcA	p.A67A		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	67					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AGAGGAGGTCCGCCAAGGTGA	0.592000													8	65					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325297	31325297	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr18:31325297A>C	ENST00000269197.5	+	12	5485	c.5485A>C	c.(5485-5487)Aag>Cag	p.K1829Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1829					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCACCCCAAAAAGAGAGTAGC	0.483000													44	173					0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42786685	42786685	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:42786685C>T	ENST00000315005.3	+	2	171	c.33C>T	c.(31-33)ctC>ctT	p.L11L	DBF4B_ENST00000398338.3_Silent_p.L11L|DBF4B_ENST00000526915.1_Intron|DBF4B_ENST00000393547.2_Silent_p.L11L	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	11					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				ACGATTGCCTCGAGCTGGAGA	0.562000													102	244					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52911973	52911973	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:52911973C>G	ENST00000371544.3	-	22	3917	c.3655G>C	c.(3655-3657)Gag>Cag	p.E1219Q	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E1219Q	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1219	PAP-associated 2.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CACTGCTTCTCAAAAGTTGTC	0.393000													25	67					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56954105	56954105	+	Missense_Mutation	SNP	C	C	A	rs138160651	byFrequency	TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr19:56954105C>A	ENST00000504904.3	-	7	978	c.259G>T	c.(259-261)Ggg>Tgg	p.G87W	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.G215W|ZNF667_ENST00000292069.6_Missense_Mutation_p.G87W			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	87					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)		CATTTAGACCCCGAGTCTGAA	0.348000													15	77					2.23348e-06	2.32247e-06	1	1	0
FZD8	8325	broad.mit.edu	37	10	35929479	35929479	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr10:35929479G>A	ENST00000374694.1	-	1	883	c.879C>T	c.(877-879)ttC>ttT	p.F293F		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	293					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						AGACGGTGGCGAAGGTGGACA	0.622000													19	26					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52919487	52919487	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr19:52919487G>A	ENST00000360465.3	+	7	1808	c.1382G>A	c.(1381-1383)gGa>gAa	p.G461E	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATCCATAGTGGAGAGAAACCT	0.378000													20	76					0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89525943	89525943	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr1:89525943G>T	ENST00000370473.4	-	3	474	c.255C>A	c.(253-255)caC>caA	p.H85Q		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	85					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GCTTCTTGGGGTGGGGCACAC	0.562000													11	93					2.48551e-13	2.68065e-13	1	1	0
SMAD4	4089	broad.mit.edu	37	18	48584814	48584814	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr18:48584814C>T	ENST00000342988.3	+	7	1430	c.892C>T	c.(892-894)Ccc>Tcc	p.P298S	SMAD4_ENST00000398417.2_Missense_Mutation_p.P298S|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	298	SAD.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GCCGCCCCATCCCGGACATTA	0.428000													20	79					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2376270	2376270	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr16:2376270C>T	ENST00000301732.5	-	5	760	c.60G>A	c.(58-60)cgG>cgA	p.R20R	ABCA3_ENST00000382381.3_Silent_p.R20R|ABCA3_ENST00000567910.1_Silent_p.R20R	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	20					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCAGGACCTTCCGCTTCTGGA	0.567000													44	25					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51621528	51621528	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr8:51621528C>T	ENST00000522124.1	+	17	1935	c.1274C>T	c.(1273-1275)gCt>gTt	p.A425V	SNTG1_ENST00000276467.5_Missense_Mutation_p.A425V|SNTG1_ENST00000518864.1_Missense_Mutation_p.A425V|SNTG1_ENST00000517473.1_Missense_Mutation_p.A425V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	425					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGCTTTGATGCTGCAACAAAG	0.378000													18	42					0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171739	4171739	+	Missense_Mutation	SNP	G	G	A	rs142789769		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr19:4171739G>A	ENST00000078445.2	+	10	1306	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	CREB3L3_ENST00000602257.1_Missense_Mutation_p.E385K|CREB3L3_ENST00000252587.3_Silent_p.P275P|CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000595923.1_Missense_Mutation_p.E386K	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	387					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCCGACCCGAGGCTGACAC	0.632000													42	76					0	0	1	0	0
ZNF587B	100293516	broad.mit.edu	37	19	58352661	58352661	+	Missense_Mutation	SNP	T	T	A	rs148810844	by1000genomes	TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr19:58352661T>A	ENST00000442832.4	+	3	853	c.619T>A	c.(619-621)Ttt>Att	p.F207I	CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000594901.1_Missense_Mutation_p.F207I|ZNF587B_ENST00000316462.4_Intron	NM_001204818.1	NP_001191747.1	B4DR41	B4DR41_HUMAN	zinc finger protein 587B	207					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.F207I(1)									TGTGTCTCCCTTTCAGTGTGG	0.493000													4	47					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121448138	121448138	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:121448138G>A	ENST00000393667.3	-	4	409	c.299C>T	c.(298-300)gCg>gTg	p.A100V	GOLGB1_ENST00000340645.5_Missense_Mutation_p.A100V|GOLGB1_ENST00000472829.1_5'UTR	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	100					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTGGCCTTCGCATGAAGTTT	0.363000													20	115					0	0	1	0	0
ADRA2C	152	broad.mit.edu	37	4	3768899	3768899	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr4:3768899C>G	ENST00000330055.5	+	1	775	c.566C>G	c.(565-567)tCg>tGg	p.S189W	ADRA2C_ENST00000509482.1_Missense_Mutation_p.S189W	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	189					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CCGCTGGTCTCGCTCTACCGC	0.677000													3	4					0	0	1	0	0
KIFC2	90990	broad.mit.edu	37	8	145692461	145692461	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr8:145692461G>A	ENST00000301332.2	+	3	675	c.298G>A	c.(298-300)Gag>Aag	p.E100K		NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	100					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGGGGCGGAAGAGAGCTGCGG	0.746000											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	7					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121944204	121944204	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr7:121944204C>T	ENST00000442488.2	-	1	355	c.288G>A	c.(286-288)cgG>cgA	p.R96R	FEZF1_ENST00000331178.4_Silent_p.R96R|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Silent_p.R96R	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	96					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GACTGGCCTTCCGCGGCTCGG	0.682000													6	13					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606668	55606668	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr11:55606668G>A	ENST00000378396.1	+	1	441	c.441G>A	c.(439-441)gtG>gtA	p.V147V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCATGCTGGTGGTTGTATTGT	0.448000													20	54					0	0	1	0	0
SERPINB1	1992	broad.mit.edu	37	6	2838863	2838863	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr6:2838863C>T	ENST00000380739.5	-	3	428	c.226G>A	c.(226-228)Gat>Aat	p.D76N	SERPINB1_ENST00000476896.1_5'UTR|SERPINB1_ENST00000537185.1_5'UTR			P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	76					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		TTGTTGATATCAGCATTCAGA	0.338000													12	38					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121944205	121944205	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr7:121944205C>T	ENST00000442488.2	-	1	354	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	FEZF1_ENST00000331178.4_Missense_Mutation_p.R96Q|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.R96Q	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	96					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						ACTGGCCTTCCGCGGCTCGGA	0.682000													6	14					0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	137956364	137956364	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:137956364G>T	ENST00000469044.1	+	9	997	c.726G>T	c.(724-726)aaG>aaT	p.K242N	ARMC8_ENST00000393058.3_Missense_Mutation_p.K232N|ARMC8_ENST00000358441.2_Missense_Mutation_p.K228N|ARMC8_ENST00000485396.1_Missense_Mutation_p.K169N|ARMC8_ENST00000538260.1_Missense_Mutation_p.K211N|ARMC8_ENST00000491704.1_Missense_Mutation_p.K200N|ARMC8_ENST00000489213.1_Missense_Mutation_p.K200N|ARMC8_ENST00000481646.1_Missense_Mutation_p.K228N|ARMC8_ENST00000471453.1_Missense_Mutation_p.K228N|ARMC8_ENST00000461822.1_Missense_Mutation_p.K242N|ARMC8_ENST00000470821.1_Missense_Mutation_p.K242N	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	242							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TTTTTGTGAAGATGTTACAGA	0.328000													11	66					0.00400662	0.00408488	1	1	0
TRIB3	57761	broad.mit.edu	37	20	372179	372179	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr20:372179G>A	ENST00000217233.3	+	3	1093	c.540G>A	c.(538-540)ctG>ctA	p.L180L	TRIB3_ENST00000422053.2_Silent_p.L207L	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	180	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GTCTGGTCCTGCGTGATCTCA	0.637000													8	27					0	0	1	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101571040	101571040	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:101571040C>A	ENST00000326172.5	+	2	516	c.401C>A	c.(400-402)gCt>gAt	p.A134D	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.A134D|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.A34D	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						AAACAGAAGGCTTCTGGCCAA	0.468000													12	170					0.010729	0.0108119	1	1	0
PKM	5315	broad.mit.edu	37	15	72502754	72502754	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr15:72502754G>A	ENST00000319622.6	-	4	768	c.312C>T	c.(310-312)ctC>ctT	p.L104L	PKM_ENST00000568883.1_Intron|PKM_ENST00000568459.1_Silent_p.L104L|PKM_ENST00000389093.3_Silent_p.L104L|PKM_ENST00000335181.5_Silent_p.L104L|PKM_ENST00000565154.1_Silent_p.L104L|PKM_ENST00000565184.1_Silent_p.L104L|PKM_ENST00000449901.2_Silent_p.L89L	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle											endometrium(1)|lung(7)	8						CGGGCCGGTAGAGGATGGGGT	0.562000													59	44					0	0	1	0	0
TMCO3	55002	broad.mit.edu	37	13	114149919	114149919	+	Missense_Mutation	SNP	T	T	G	rs138668953		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr13:114149919T>G	ENST00000434316.2	+	2	382	c.23T>G	c.(22-24)tTc>tGc	p.F8C	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.F8C	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	8						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GGAAGAAGCTTCTTCTGGGTG	0.612000													3	44					0	0	1	0	0
ENDOD1	23052	broad.mit.edu	37	11	94861543	94861543	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr11:94861543C>T	ENST00000278505.4	+	2	421	c.303C>T	c.(301-303)atC>atT	p.I101I		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	101						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TCTTGCAGATCGATGACCCCA	0.517000													5	20					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56422029	56422029	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr19:56422029G>C	ENST00000588751.1	-	6	2206	c.2182C>G	c.(2182-2184)Ctg>Gtg	p.L728V	NLRP13_ENST00000342929.3_Missense_Mutation_p.L728V			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	728							ATP binding	p.L728M(1)		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)		AGCTCATGCAGATTCTCATTT	0.453000													32	97					0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102510539	102510539	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr10:102510539G>T	ENST00000370296.2	+	3	851	c.301G>T	c.(301-303)Gaa>Taa	p.E101*	PAX2_ENST00000428433.1_Nonsense_Mutation_p.E101*|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000361791.3_Nonsense_Mutation_p.E101*|PAX2_ENST00000556085.1_Nonsense_Mutation_p.E100*|PAX2_ENST00000355243.3_Nonsense_Mutation_p.E101*			Q02962	PAX2_HUMAN	paired box 2	101	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CAAGATTGCTGAATACAAACG	0.587000													32	35					1.56442e-22	1.72284e-22	1	1	0
FECH	2235	broad.mit.edu	37	18	55221509	55221509	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr18:55221509G>C	ENST00000262093.5	-	9	1211	c.1060C>G	c.(1060-1062)Caa>Gaa	p.Q354E	FECH_ENST00000382873.3_Missense_Mutation_p.Q360E	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	354					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding	p.Q360E(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				GCTAAAACTTGAGAGTACTCG	0.413000													55	224					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100995541	100995541	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:100995541G>C	ENST00000193391.7	-	5	737	c.550C>G	c.(550-552)Cca>Gca	p.P184A		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	184					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ACAGGAACTGGAGAAGACAGT	0.333000													4	18					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53560990	53560990	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chrX:53560990G>A	ENST00000342160.3	-	82	13457	c.13000C>T	c.(13000-13002)Cgc>Tgc	p.R4334C	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4334C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4334	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GAAGGCAGGCGATCTGTGGAC	0.493000													23	19					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27419878	27419878	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr6:27419878G>A	ENST00000211936.6	-	6	1744	c.1460C>T	c.(1459-1461)tCa>tTa	p.S487L	ZNF184_ENST00000377419.1_Missense_Mutation_p.S487L	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGTAAGGGATGAGCAGTAACT	0.403000													25	59					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19492809	19492809	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:19492809C>T	ENST00000328405.2	+	10	2004	c.1738C>T	c.(1738-1740)Cgt>Tgt	p.R580C	KCNH8_ENST00000537696.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	580						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GTATCTGCTGCGTCAAGGGGA	0.507000													29	59					0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642957	127642957	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:127642957G>A	ENST00000405109.1	+	2	1520	c.1053G>A	c.(1051-1053)aaG>aaA	p.K351K	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000405256.1_Silent_p.K351K			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	351										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						AAAAGAACAAGAATGTTGAAA	0.348000													18	87					0	0	1	0	0
STAT6	6778	broad.mit.edu	37	12	57492348	57492348	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr12:57492348A>G	ENST00000300134.3	-	19	2424	c.2099T>C	c.(2098-2100)aTc>aCc	p.I700T	STAT6_ENST00000537215.2_Missense_Mutation_p.I590T|STAT6_ENST00000454075.3_Missense_Mutation_p.I700T|STAT6_ENST00000556155.1_Missense_Mutation_p.I700T|STAT6_ENST00000543873.2_Missense_Mutation_p.I700T|STAT6_ENST00000538913.2_Missense_Mutation_p.I590T	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	700					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						ATACGGGGGGATGGAGTGAGA	0.547000													4	72					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140735361	140735361	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr5:140735361C>T	ENST00000571252.1	+	1	594	c.594C>T	c.(592-594)cgC>cgT	p.R198R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGAACGCGCTCTAGATC	0.567000													7	8					0	0	1	0	0
LRRC42	115353	broad.mit.edu	37	1	54423865	54423865	+	Silent	SNP	C	C	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr1:54423865C>A	ENST00000371370.3	+	4	1038	c.517C>A	c.(517-519)Cgg>Agg	p.R173R	LRRC42_ENST00000319223.4_Silent_p.R173R	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	173										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TAAGTCTTTCCGGGAGCTGAC	0.468000													8	53					0.000274275	0.000280729	1	1	0
STARD13	90627	broad.mit.edu	37	13	33684190	33684190	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr13:33684190G>A	ENST00000336934.5	-	12	2983	c.2867C>T	c.(2866-2868)tCt>tTt	p.S956F	STARD13_ENST00000399365.3_Missense_Mutation_p.S838F|STARD13_ENST00000255486.4_Missense_Mutation_p.S948F	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	956	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CACCTCCACAGAAGCCTTCCA	0.562000											OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	21					0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92131331	92131331	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr7:92131331C>G	ENST00000248633.4	-	14	2384	c.2289G>C	c.(2287-2289)aaG>aaC	p.K763N	PEX1_ENST00000541751.1_Intron|PEX1_ENST00000438045.1_Missense_Mutation_p.K441N|PEX1_ENST00000428214.1_Missense_Mutation_p.K706N	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	763					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GATCGGTGAACTTGTTTATAT	0.353000													58	170					0	0	1	0	0
USP14	9097	broad.mit.edu	37	18	202939	202939	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr18:202939C>T	ENST00000261601.6	+	11	1027	c.936C>T	c.(934-936)atC>atT	p.I312I	USP14_ENST00000582707.1_Silent_p.I277I|USP14_ENST00000400266.3_Silent_p.I301I|USP14_ENST00000383589.2_Silent_p.I266I	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	312					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CCTTGTATATCAAATCTGTAA	0.333000													11	33					0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142607677	142607677	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:142607677G>A	ENST00000295992.3	-	1	368	c.62C>T	c.(61-63)tCg>tTg	p.S21L	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.S21L|PCOLCE2_ENST00000461818.1_5'UTR	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	21						extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTGCTGCCGCGAGAGCTGGGT	0.692000													3	14					0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868899	97868899	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:97868899A>G	ENST00000437310.1	+	1	730	c.670A>G	c.(670-672)Aca>Gca	p.T224A		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTCCTCTATACAATCTTGAA	0.358000													12	37					0	0	1	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202173910	202173910	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr2:202173910C>T	ENST00000405148.2	-	10	1182	c.739G>A	c.(739-741)Gag>Aag	p.E247K	ALS2CR12_ENST00000286190.5_Missense_Mutation_p.E247K|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.E247K|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.E247K|ALS2CR12_ENST00000448967.1_5'UTR	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	247					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TCGAACTTCTCATCCTTCTTC	0.408000													43	64					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	62					0	0	1	0	0
ELP5	23587	broad.mit.edu	37	17	7156110	7156110	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr17:7156110G>A	ENST00000574993.1	+	2	333	c.116G>A	c.(115-117)cGc>cAc	p.R39H	ELP5_ENST00000573657.1_Missense_Mutation_p.R39H|ELP5_ENST00000396628.2_Missense_Mutation_p.R39H|ELP5_ENST00000356683.2_Missense_Mutation_p.R39H|ELP5_ENST00000354429.2_Missense_Mutation_p.R39H|ELP5_ENST00000396627.2_Missense_Mutation_p.R39H|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000574255.1_Missense_Mutation_p.R39H					elongator acetyltransferase complex subunit 5																		TGGGAGGGGCGCAGTCTCTTG	0.587000													3	29					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169525915	169525915	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr1:169525915G>A	ENST00000367796.3	-	6	1122	c.921C>T	c.(919-921)atC>atT	p.I307I	F5_ENST00000367797.3_Silent_p.I307I|F5_ENST00000546081.1_Silent_p.I170I			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	307	F5/8 type A 1.|Plastocyanin-like 2.				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)	GAGAAGATATGATCCACTTTC	0.483000													11	50					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940654	144940654	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr8:144940654G>A	ENST00000525985.1	-	2	6839	c.6768C>T	c.(6766-6768)ccC>ccT	p.P2256P				P58107	EPIPL_HUMAN	epiplakin 1	2256						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCCGTGCCGGGCCGCAGCA	0.726000													5	107					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139192996	139192996	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr5:139192996C>T	ENST00000274710.3	+	3	679	c.474C>T	c.(472-474)ctC>ctT	p.L158L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	158					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)			ACAGCAGCCTCGACTCCCTAG	0.652000													27	59					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67066571	67066571	+	Splice_Site	SNP	T	T	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr8:67066571T>G	ENST00000315962.4	+	9	1897		c.e9+2		TRIM55_ENST00000353317.5_Intron|TRIM55_ENST00000276573.7_Splice_Site|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55							cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			ACTTCTCAGGTTAGTGATGAT	0.542000													10	27					0	0	1	0	0
RTP1	132112	broad.mit.edu	37	3	186917628	186917628	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:186917628G>A	ENST00000312295.4	+	2	592	c.562G>A	c.(562-564)Gga>Aga	p.G188R	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	188					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GCGGCACCGCGGAGAGTTCTG	0.692000													10	37					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79936594	79936594	+	Missense_Mutation	SNP	G	G	A	rs145524733		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr9:79936594G>A	ENST00000360280.3	+	44	6022	c.5762G>A	c.(5761-5763)cGa>cAa	p.R1921Q	VPS13A_ENST00000376634.4_Missense_Mutation_p.R1921Q|VPS13A_ENST00000376636.3_Missense_Mutation_p.R1882Q|VPS13A_ENST00000357409.5_Missense_Mutation_p.R1921Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1921					Golgi to endosome transport|protein transport	intracellular	protein binding	p.R1921Q(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GATTATATCCGAACCAAGGAC	0.353000													13	39					0	0	1	0	0
SCCPDH	51097	broad.mit.edu	37	1	246927581	246927581	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr1:246927581G>A	ENST00000366510.3	+	10	1400	c.1024G>A	c.(1024-1026)Ggt>Agt	p.G342S		NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	342						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		GACATTCTTTGGTCAAGGATA	0.408000													22	64					0	0	1	0	0
ELF4	2000	broad.mit.edu	37	X	129205093	129205093	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chrX:129205093G>C	ENST00000308167.5	-	7	1110	c.731C>G	c.(730-732)tCc>tGc	p.S244C	ELF4_ENST00000335997.7_Missense_Mutation_p.S244C	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	244					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CACAGCTTTGGAGTCCACCAG	0.522000			T	ERG	AML								63	40					0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54819017	54819017	+	Silent	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr19:54819017G>C	ENST00000301219.3	-	6	848	c.729C>G	c.(727-729)ctC>ctG	p.L243L	LILRA5_ENST00000346508.3_Silent_p.L231L	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	243					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGACGGACTGAGGTTATCAG	0.507000													10	42					0	0	1	0	0
GNPNAT1	64841	broad.mit.edu	37	14	53251317	53251317	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr14:53251317C>T	ENST00000216410.3	-	2	239	c.52G>A	c.(52-54)Gac>Aac	p.D18N	GNPNAT1_ENST00000554230.1_Intron	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	18					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					TGACTCCAGTCCACTTCTTTG	0.373000													139	15					0	0	1	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235634193	235634193	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr1:235634193C>A	ENST00000366600.3	-	6	961	c.733G>T	c.(733-735)Gat>Tat	p.D245Y	B3GALNT2_ENST00000478199.1_5'UTR|B3GALNT2_ENST00000313984.3_Missense_Mutation_p.D286Y	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	245					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CCCCCTCCATCATTCACTGTC	0.358000													29	74					2.46105e-21	2.68759e-21	1	1	0
MB21D2	151963	broad.mit.edu	37	3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:192516720G>C	ENST00000392452.2	-	2	1251	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311								p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557000													14	48					0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137803417	137803417	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr5:137803417G>A	ENST00000239938.4	+	2	1551	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	427					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAAGAAAGCAGACAAAAGTGT	0.542000													12	32					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133429	57133429	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr19:57133429C>T	ENST00000328070.6	+	3	1008	c.774C>T	c.(772-774)atC>atT	p.I258I		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	258						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TGCACCTCATCGTGCACCAGC	0.662000													16	48					0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8006700	8006700	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr17:8006700T>C	ENST00000380149.1	-	14	2395	c.2365A>G	c.(2365-2367)Aac>Gac	p.N789D	ALOXE3_ENST00000448843.2_Missense_Mutation_p.N633D|ALOXE3_ENST00000318227.3_Missense_Mutation_p.N765D			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	633					leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CAGCTGATGTTCACTTCAGGG	0.557000													26	44					0	0	1	0	0
MMP8	4317	broad.mit.edu	37	11	102593222	102593222	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr11:102593222G>A	ENST00000236826.3	-	2	383	c.285C>T	c.(283-285)gaC>gaT	p.D95D		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	95					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		AACCACCACTGTCAGGCACTC	0.458000													26	21					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132052292	132052292	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr8:132052292C>T	ENST00000286355.5	-	1	2380	c.288G>A	c.(286-288)ccG>ccA	p.P96P	ADCY8_ENST00000377928.3_Silent_p.P96P	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	96					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTCGCTCTCCCGGGCCCAGCG	0.746000										HNSCC(32;0.087)			3	8					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42221507	42221507	+	Silent	SNP	G	G	A	rs149933160		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr19:42221507G>A	ENST00000221992.6	+	5	1206	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.P364P|CEACAM5_ENST00000398599.4_Silent_p.P363P	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	364	Ig-like 4.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AGAGCCTCCCGGTCAGTCCCA	0.512000													29	159					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15742398	15742398	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr12:15742398G>A	ENST00000281171.4	+	25	3750	c.3420G>A	c.(3418-3420)gtG>gtA	p.V1140V	PTPRO_ENST00000544244.1_Silent_p.V301V|PTPRO_ENST00000445537.2_Silent_p.V329V|PTPRO_ENST00000442921.2_Silent_p.V329V|PTPRO_ENST00000542557.1_Silent_p.V301V|PTPRO_ENST00000348962.2_Silent_p.V1112V	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1140	Substrate binding (By similarity).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GTGCTGGCGTGGGACGGACAG	0.448000													37	102					0	0	1	0	0
C22orf43	51233	broad.mit.edu	37	22	23974134	23974134	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr22:23974134G>A	ENST00000317749.5	-	1	374	c.77C>T	c.(76-78)tCt>tTt	p.S26F	AP000346.2_ENST00000390329.2_RNA	NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN	chromosome 22 open reading frame 43	26										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						ATCAGTATCAGATTCATAACA	0.542000													26	66					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81374353	81374353	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr7:81374353G>A	ENST00000222390.5	-	6	935	c.709C>T	c.(709-711)Cat>Tat	p.H237Y	HGF_ENST00000444829.2_Missense_Mutation_p.H237Y|HGF_ENST00000457544.2_Missense_Mutation_p.H232Y|HGF_ENST00000453411.1_Missense_Mutation_p.H232Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	237	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GGTGTCTGATGATCCCAGCGC	0.378000													16	39					0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132440099	132440099	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chrX:132440099C>T	ENST00000370828.3	-	5	1485	c.961G>A	c.(961-963)Gat>Aat	p.D321N	GPC4_ENST00000535467.1_Missense_Mutation_p.D251N	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	321					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					ATAATAGCATCAGAAATCTTC	0.488000													41	35					0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94876457	94876457	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr5:94876457C>T	ENST00000358746.2	-	8	778	c.480G>A	c.(478-480)tgG>tgA	p.W160*		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	160							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TCAATTTTCTCCATAGTTGAT	0.378000													27	65					0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106708240	106708240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr12:106708240C>T	ENST00000546625.1	+	3	421	c.262C>T	c.(262-264)Caa>Taa	p.Q88*	TCP11L2_ENST00000547153.1_Nonsense_Mutation_p.Q88*|TCP11L2_ENST00000299045.3_Nonsense_Mutation_p.Q88*			Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	88										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						TGAGAACTTTCAATTGAAACA	0.418000													10	44					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529035	57529035	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr7:57529035C>T	ENST00000420713.1	+	4	980	c.868C>T	c.(868-870)Cat>Tat	p.H290Y		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CAAGAGAATTCATACTGGAGA	0.408000													9	17					0	0	1	0	0
CTC-260F20.3	0	broad.mit.edu	37	19	19637028	19637028	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr19:19637028C>G	ENST00000555938.1	+	2	144	c.132C>G	c.(130-132)atC>atG	p.I44M	NDUFA13_ENST00000503283.1_Missense_Mutation_p.I44M|NDUFA13_ENST00000252576.5_Missense_Mutation_p.I127M|NDUFA13_ENST00000428459.2_Missense_Mutation_p.I44M|NDUFA13_ENST00000507754.3_Missense_Mutation_p.I44M|CTC-260F20.3_ENST00000586674.1_3'UTR																							GAACCCTGATCTACGGGCACT	0.642000													6	22					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67801807	67801807	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr13:67801807G>A	ENST00000544246.1	-	2	1457	c.766C>T	c.(766-768)Caa>Taa	p.Q256*	PCDH9_ENST00000377861.3_Nonsense_Mutation_p.Q256*|PCDH9_ENST00000377865.2_Nonsense_Mutation_p.Q256*|PCDH9_ENST00000456367.1_Nonsense_Mutation_p.Q256*|PCDH9_ENST00000328454.5_Nonsense_Mutation_p.Q256*	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	256	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACCTCCACTTGACCCTCTTTA	0.473000													24	34					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143090949	143090949	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr7:143090949C>G	ENST00000275815.3	-	16	2597	c.2511G>C	c.(2509-2511)aaG>aaC	p.K837N		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	837	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CCTCAATGCTCTTCATAACCT	0.577000													23	43					0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46307508	46307508	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:46307508G>C	ENST00000357422.2	+	4	1402	c.859G>C	c.(859-861)Gag>Cag	p.E287Q	CCR3_ENST00000395940.2_Missense_Mutation_p.E287Q|CCR3_ENST00000545097.1_Missense_Mutation_p.E308Q|CCR3_ENST00000395942.2_Missense_Mutation_p.E287Q|CCR3_ENST00000541018.1_Missense_Mutation_p.E287Q			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	287					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GCTGGTGACAGAGGTGATCGC	0.517000													22	27					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179449657	179449657	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr2:179449657C>T	ENST00000589042.1	-	310	64935	c.64711G>A	c.(64711-64713)Gat>Aat	p.D21571N	TTN_ENST00000460472.2_Missense_Mutation_p.D12506N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D19930N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D19003N|TTN_ENST00000359218.5_Missense_Mutation_p.D12631N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D12698N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19930	Fibronectin type-III 56.						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)			GCGTCTATATCAGAAATGTCA	0.458000													24	39					0	0	1	0	0
OR52A4P	390053	broad.mit.edu	37	11	5142643	5142643	+	RNA	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr11:5142643C>T	ENST00000498233.1	-	0	755																				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGGCTTGGCTCAGATTTGATG	0.428000													20	48					0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36169709	36169709	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr9:36169709C>T	ENST00000335119.2	+	1	321	c.210C>T	c.(208-210)atC>atT	p.I70I		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	70	BTB.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			AGCTTTTCATCACCATTGACA	0.532000													8	25					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155530881	155530881	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr4:155530881C>T	ENST00000404648.3	-	6	806	c.567G>A	c.(565-567)caG>caA	p.Q189Q	FGG_ENST00000405164.1_Silent_p.Q197Q|FGG_ENST00000336098.3_Silent_p.Q189Q|FGG_ENST00000407946.1_Silent_p.Q197Q	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	189	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AAAGCCCGCTCTGTTTAGCTC	0.418000													17	57					0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4889259	4889259	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr17:4889259C>A	ENST00000361571.5	-	3	531	c.120G>T	c.(118-120)aaG>aaT	p.K40N	CAMTA2_ENST00000414043.3_Missense_Mutation_p.K40N|CAMTA2_ENST00000381311.5_Missense_Mutation_p.K19N|CAMTA2_ENST00000358183.4_Missense_Mutation_p.K17N|CAMTA2_ENST00000572543.1_Missense_Mutation_p.K17N|CAMTA2_ENST00000348066.3_Missense_Mutation_p.K17N	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	17					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGAGAAAGATCTTCAGGTGGT	0.537000													26	41					4.59853e-10	4.87893e-10	1	1	0
GPR65	8477	broad.mit.edu	37	14	88477470	88477470	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr14:88477470C>T	ENST00000267549.3	+	2	837	c.279C>T	c.(277-279)ctC>ctT	p.L93L	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	93					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						GTGCTTTTCTCATGTACATGA	0.403000													52	97					0	0	1	0	0
ENC1	8507	broad.mit.edu	37	5	73931590	73931590	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr5:73931590G>C	ENST00000302351.4	-	2	1851	c.721C>G	c.(721-723)Ctg>Gtg	p.L241V	ENC1_ENST00000537006.1_Missense_Mutation_p.L241V|ENC1_ENST00000510316.1_Missense_Mutation_p.L168V	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	241					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		ATGGCTGGCAGAAGTGCCAGC	0.483000													22	65					0	0	1	0	0
SPRYD3	84926	broad.mit.edu	37	12	53470909	53470909	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr12:53470909C>T	ENST00000301463.4	-	2	246	c.160G>A	c.(160-162)Gat>Aat	p.D54N	SPRYD3_ENST00000547837.1_Missense_Mutation_p.D91N	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	54	B30.2/SPRY.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CTTAAAGTATCTCCATCTACA	0.428000													22	61					0	0	1	0	0
CD44	960	broad.mit.edu	37	11	35223298	35223298	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr11:35223298C>T	ENST00000428726.2	+	9	1240	c.1117C>T	c.(1117-1119)Cat>Tat	p.H373Y	CD44_ENST00000449691.2_Missense_Mutation_p.H373Y|CD44_ENST00000437706.2_Missense_Mutation_p.H373Y|CD44_ENST00000434472.2_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.H374Y|CD44_ENST00000415148.2_Missense_Mutation_p.H330Y|CD44_ENST00000360158.4_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000263398.6_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	373	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	CCATGAGCATCATGAGGAAGA	0.463000													4	31					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059596	11059596	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:11059596C>T	ENST00000287766.4	+	4	727	c.306C>T	c.(304-306)tgC>tgT	p.C102C	SLC6A1_ENST00000536032.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	102					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TGCTGGAGTGCTCCCTGGGCC	0.592000													43	91					0	0	1	0	0
C21orf128	150147	broad.mit.edu	37	21	43523904	43523904	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr21:43523904C>T	ENST00000329015.2	-	2	480	c.329G>A	c.(328-330)cGa>cAa	p.R110Q	UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000400427.1_Intron|UMODL1_ENST00000400424.1_Intron|UMODL1_ENST00000408910.2_Intron					chromosome 21 open reading frame 128											lung(4)	4						CACCATCCATCGGTCACACCT	0.547000													7	21					0	0	1	0	0
SCARNA2	677766	broad.mit.edu	37	1	109643008	109643008	+	RNA	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr1:109643008G>A	ENST00000458748.1	+	0	194					NR_003023.1																						TATTTGATCGGATCGTGACCC	0.667000													16	35					0	0	1	0	0
SFXN4	119559	broad.mit.edu	37	10	120917544	120917544	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr10:120917544T>A	ENST00000355697.2	-	7	410	c.391A>T	c.(391-393)Atc>Ttc	p.I131F	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.I122F	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	131					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		ACGGACTTGATCCCTTTCAGT	0.418000													8	48					0	0	1	0	0
PGBD2	267002	broad.mit.edu	37	1	249211968	249211968	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr1:249211968G>T	ENST00000355360.4	+	3	702	c.432G>T	c.(430-432)agG>agT	p.R144S	PGBD2_ENST00000329291.5_Missense_Mutation_p.R395S|PGBD2_ENST00000539153.1_Missense_Mutation_p.R392S	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	395										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAATGAAGAGGGGTTCATTTG	0.478000													21	49					4.35082e-09	4.59742e-09	1	1	0
HTR2A	3356	broad.mit.edu	37	13	47469754	47469754	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr13:47469754G>C	ENST00000378688.4	-	1	419	c.288C>G	c.(286-288)atC>atG	p.I96M	HTR2A_ENST00000543956.1_Intron|HTR2A_ENST00000542664.1_Missense_Mutation_p.I96M			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	96					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ACACTGCCATGATGACGAGTA	0.458000													20	29					0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105224986	105224986	+	Splice_Site	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr6:105224986C>G	ENST00000262903.4	-	16	1955		c.e16-1		HACE1_ENST00000517995.1_Intron|HACE1_ENST00000369125.2_Intron	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AAAATAGAATCTAAATATGTA	0.333000													10	15					0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	132795857	132795857	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chrX:132795857C>T	ENST00000370818.3	-	6	1759	c.1314G>A	c.(1312-1314)agG>agA	p.R438R	GPC3_ENST00000394299.2_Silent_p.R461R|GPC3_ENST00000543339.1_Silent_p.R384R	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	438						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TCATTCCATTCCTTGCTGCCT	0.413000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				15	23					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140811312	140811312	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr5:140811312C>T	ENST00000252085.3	+	1	1128	c.986C>T	c.(985-987)gCg>gTg	p.A329V	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATATTCTGCGCGAGCCAAA	0.507000													23	55					0	0	1	0	0
TIGD2	166815	broad.mit.edu	37	4	90034531	90034531	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr4:90034531C>G	ENST00000317005.2	+	1	564	c.406C>G	c.(406-408)Cca>Gca	p.P136A		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	136	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		Ccatggtattccaaaggctgc	0.398000													20	46					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126735460	126735460	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:126735460G>C	ENST00000393409.2	+	15	3115	c.3115G>C	c.(3115-3117)Gag>Cag	p.E1039Q	PLXNA1_ENST00000251772.4_Missense_Mutation_p.E1016Q	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1039	IPT/TIG 2.				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)		CACCAACCCTGAGGTGAAGTA	0.622000													21	107					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141328818	141328818	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:141328818T>G	ENST00000286364.3	+	23	2464	c.2429T>G	c.(2428-2430)aTt>aGt	p.I810S	RASA2_ENST00000452898.1_Missense_Mutation_p.I811S			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	810					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TTTAAGACAATTCAGCAAATA	0.363000													20	86					0	0	1	0	0
SYAP1	94056	broad.mit.edu	37	X	16775366	16775366	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chrX:16775366G>A	ENST00000380155.3	+	8	958	c.865G>A	c.(865-867)Gat>Aat	p.D289N		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	289										endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					AAATCAGGAAGATCTAAGGAA	0.398000													39	29					0	0	1	0	0
PCGF1	84759	broad.mit.edu	37	2	74734013	74734013	+	Splice_Site	SNP	T	T	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr2:74734013T>C	ENST00000233630.6	-	3	1111		c.e3-2		PCGF1_ENST00000480844.2_Splice_Site	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1						histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TCTTGCAGACTGCAGGAAAAG	0.527000													18	49					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29821993	29821993	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr10:29821993C>T	ENST00000375398.2	-	10	1752	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.E435K			O95425	SVIL_HUMAN	supervillin	435					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				tcttctccttctccttcccct	0.507000													23	22					0	0	1	0	0
TAB3	257397	broad.mit.edu	37	X	30873379	30873379	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chrX:30873379G>A	ENST00000378933.1	-	3	580	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	TAB3_ENST00000378930.3_Missense_Mutation_p.P135S|TAB3_ENST00000378932.2_Missense_Mutation_p.P135S|TAB3_ENST00000288422.2_Missense_Mutation_p.P135S	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	135					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TTGTAGTTGGGAGTAGCAGCA	0.443000													28	15					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86912933	86912933	+	Splice_Site	SNP	A	A	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr9:86912933A>C	ENST00000376238.4	-	7	720	c.669_splice	c.e7-1	p.V224_splice	SLC28A3_ENST00000537648.1_Splice_Site_p.V155_splice	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	224					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TCTCCAGTAAACCTATACAGA	0.418000													8	64					0	0	1	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986016	11986016	+	RNA	SNP	C	C	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr8:11986016C>A	ENST00000434078.2	+	0	608					NR_027425.1																						AACGTCTTGGCGGCAGGCGCC	0.478000													4	66					0.00024832	0.000256172	1	1	0
MUC16	94025	broad.mit.edu	37	19	9024166	9024166	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr19:9024166G>A	ENST00000397910.4	-	18	37309	c.37106C>T	c.(37105-37107)tCa>tTa	p.S12369L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12371					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						TGGAGTCCCTGAGGTTCTGAG	0.473000													5	14					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40354269	40354269	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr19:40354269G>A	ENST00000221347.6	-	35	16207	c.16200C>T	c.(16198-16200)ttC>ttT	p.F5400F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5400	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACCATGGGGAGAAGTCCTGCG	0.557000													13	61					0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71046980	71046980	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr2:71046980C>T	ENST00000272367.2	-	2	181	c.105G>A	c.(103-105)ccG>ccA	p.P35P	CLEC4F_ENST00000426626.1_Silent_p.P35P	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	35					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GAACGAGCCTCGGTATCTTGG	0.567000													12	30					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71190648	71190648	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr6:71190648C>T	ENST00000418814.2	+	9	1201	c.587C>T	c.(586-588)cCa>cTa	p.P196L	FAM135A_ENST00000370479.3_Missense_Mutation_p.P153L|FAM135A_ENST00000457062.2_Missense_Mutation_p.P153L|FAM135A_ENST00000361499.3_Missense_Mutation_p.P196L|FAM135A_ENST00000505868.1_Missense_Mutation_p.P196L|FAM135A_ENST00000505769.1_Missense_Mutation_p.P196L	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	196										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AGAAATGCACCAGCACAAAAC	0.358000													14	37					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71039096	71039096	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr8:71039096G>A	ENST00000452400.2	-	19	4049	c.3868C>T	c.(3868-3870)Cgg>Tgg	p.R1290W	NCOA2_ENST00000267974.4_Missense_Mutation_p.R378W	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1290					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGGGGAATCCGAGGGTTGCTC	0.502000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								4	23					0	0	1	0	0
ALMS1P	200420	broad.mit.edu	37	2	73898243	73898243	+	RNA	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr2:73898243G>A	ENST00000450720.1	+	0	273					NR_003683.2																						GCAACAAGCAGAATGTACACA	0.353000													27	87					0	0	1	0	0
MED11	400569	broad.mit.edu	37	17	4635163	4635163	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr17:4635163G>A	ENST00000293777.5	+	2	234	c.178G>A	c.(178-180)Gag>Aag	p.E60K	MED11_ENST00000573708.1_Missense_Mutation_p.E60K|RP11-314A20.5_ENST00000570493.2_RNA|MED11_ENST00000575284.1_Missense_Mutation_p.E60K	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	60					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(2)	4						GCAACACGTGGAGGCGGAGCT	0.607000											OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	20					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42510941	42510941	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr19:42510941G>A	ENST00000262895.3	-	15	1892	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	GRIK5_ENST00000301218.4_Silent_p.I631I|GRIK5_ENST00000593562.1_Silent_p.I631I	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	631						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	AGGAGGAGATGATGATCAAGG	0.647000													8	19					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148905959	148905959	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:148905959G>A	ENST00000264613.6	-	10	2006	c.1744C>T	c.(1744-1746)Cct>Tct	p.P582S	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	582	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AATACTGTAGGAAACAAATAG	0.343000													22	82					0	0	1	0	0
AP4M1	9179	broad.mit.edu	37	7	99704400	99704400	+	Silent	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr7:99704400C>G	ENST00000429084.1	+	15	1436	c.1278C>G	c.(1276-1278)ctC>ctG	p.L426L	AP4M1_ENST00000359593.4_Silent_p.L419L|AP4M1_ENST00000422582.1_Silent_p.L291L|AP4M1_ENST00000421755.1_Silent_p.L419L			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	419	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTCTGGCCTCCAGGTCCGAT	0.652000													9	55					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89943367	89943367	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr5:89943367C>T	ENST00000405460.2	+	17	3171	c.3075C>T	c.(3073-3075)ctC>ctT	p.L1025L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1025					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTACAGTTCTCAGAAATGGAT	0.433000													20	40					0	0	1	0	0
ITM2A	9452	broad.mit.edu	37	X	78616833	78616833	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chrX:78616833G>A	ENST00000434584.2	-	4	900	c.564C>T	c.(562-564)ctC>ctT	p.L188L	ITM2A_ENST00000373298.2_Silent_p.L232L|ITM2A_ENST00000469541.1_5'UTR	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	232	BRICHOS.					integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						TACCCAGCAAGAGGTCTCTGC	0.433000													31	25					0	0	1	0	0
GATA1	2623	broad.mit.edu	37	X	48650432	48650432	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chrX:48650432G>A	ENST00000376670.3	+	3	513	c.402G>A	c.(400-402)gaG>gaA	p.E134E	GATA1_ENST00000376665.3_Silent_p.E134E	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	134					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GCTTCCTGGAGACTTTGAAGA	0.612000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								15	14					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130774940	130774940	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr8:130774940T>G	ENST00000276708.4	-	5	1489	c.608A>C	c.(607-609)aAg>aCg	p.K203T		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	203						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AGTCAGCGCCTTCTTCTTCAC	0.473000													50	113					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767646	31767646	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr19:31767646A>G	ENST00000240587.4	-	2	3380	c.3053T>C	c.(3052-3054)aTa>aCa	p.I1018T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1018					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGTTTGTGCTATCTGACTGTT	0.502000													17	42					0	0	1	0	0
TOR3A	64222	broad.mit.edu	37	1	179063234	179063234	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr1:179063234C>T	ENST00000367627.3	+	5	1577	c.825C>T	c.(823-825)ctC>ctT	p.L275L	TOR3A_ENST00000352445.6_Silent_p.L275L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	275					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TCAGTAATCTCAGGGGCGATA	0.463000													17	71					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103294652	103294652	+	Splice_Site	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr7:103294652C>G	ENST00000428762.1	-	13	1601	c.1441_splice	c.e13-1	p.G481_splice	RELN_ENST00000424685.2_Splice_Site_p.G481_splice|RELN_ENST00000343529.5_Splice_Site_p.G481_splice	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	481					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACAAATTCCTCCTGCACAAAA	0.318000													11	34					0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80669404	80669404	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr14:80669404G>A	ENST00000557125.1	-	2	73	c.74C>T	c.(73-75)tCt>tTt	p.S25F	DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000555750.1_Silent_p.F186F|DIO2_ENST00000557010.1_Silent_p.F150F|DIO2_ENST00000438257.4_Silent_p.F150F			Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	0					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCACTGAGGAGAACTCTTCCA	0.557000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	15					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42019556	42019556	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr15:42019556C>T	ENST00000219905.7	+	10	3790	c.3609C>T	c.(3607-3609)ctC>ctT	p.L1203L	MGA_ENST00000566586.1_Silent_p.L1203L|MGA_ENST00000545763.1_Silent_p.L1203L|MGA_ENST00000570161.1_Silent_p.L1203L|MGA_ENST00000389936.4_Silent_p.L1203L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1203						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GCAAACTGCTCACTGGAATTA	0.403000													43	118					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27419348	27419348	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr6:27419348G>A	ENST00000211936.6	-	6	2274	c.1990C>T	c.(1990-1992)Cac>Tac	p.H664Y	ZNF184_ENST00000377419.1_Missense_Mutation_p.H664Y	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCCCCAGTGTGAATTCGTTGA	0.423000													24	45					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184104374	184104374	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:184104374C>G	ENST00000204604.1	+	16	2273	c.2027C>G	c.(2026-2028)tCt>tGt	p.S676C	CHRD_ENST00000450923.1_Missense_Mutation_p.S676C|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.S636C|CHRD_ENST00000545352.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	676					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATACAGCCTCTGCTGCGCCG	0.711000													5	10					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45353208	45353208	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr5:45353208C>T	ENST00000303230.4	-	5	1428	c.1371G>A	c.(1369-1371)ctG>ctA	p.L457L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	457						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.L457L(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTACCTCTCTCAGAGGATCAT	0.343000													13	32					0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89525944	89525944	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr1:89525944T>G	ENST00000370473.4	-	3	473	c.254A>C	c.(253-255)cAc>cCc	p.H85P		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	85					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CTTCTTGGGGTGGGGCACACA	0.562000													11	92					0	0	1	0	0
GINS1	9837	broad.mit.edu	37	20	25405913	25405913	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr20:25405913G>A	ENST00000262460.4	+	5	491	c.397G>A	c.(397-399)Ggt>Agt	p.G133S	GINS1_ENST00000429262.2_3'UTR	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	133					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		p.G133R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						AGGAGATGAAGGTTTGGACAT	0.313000													3	38					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61012605	61012605	+	Missense_Mutation	SNP	C	C	T	rs147340549	by1000genomes	TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr10:61012605C>T	ENST00000373867.3	-	13	1699	c.1234G>A	c.(1234-1236)Gta>Ata	p.V412I	FAM13C_ENST00000435852.2_Missense_Mutation_p.V496I|FAM13C_ENST00000277705.6_Missense_Mutation_p.V516I|FAM13C_ENST00000442566.3_Missense_Mutation_p.V517I|FAM13C_ENST00000468840.2_Missense_Mutation_p.V413I|FAM13C_ENST00000419214.2_Missense_Mutation_p.V398I|FAM13C_ENST00000373868.2_Missense_Mutation_p.V496I	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	496										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGTGGTTTTACTTCTTTCTTT	0.453000													3	42					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51411927	51411927	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:51411927G>A	ENST00000266037.9	+	50	5344	c.5321G>A	c.(5320-5322)cGc>cAc	p.R1774H		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1774						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GATAAGTACCGCCATGCCCGT	0.537000													4	11					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14368963	14368963	+	Silent	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr5:14368963C>G	ENST00000344204.4	+	17	3045	c.3021C>G	c.(3019-3021)ctC>ctG	p.L1007L	TRIO_ENST00000537187.1_Silent_p.L1007L|TRIO_ENST00000509967.2_Silent_p.L958L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1007					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AAGATCGCCTCAAGCTCGTCA	0.522000													10	68					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5440230	5440230	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr17:5440230C>T	ENST00000345221.3	-	8	3455	c.2901G>A	c.(2899-2901)atG>atA	p.M967I	NLRP1_ENST00000354411.3_Intron|NLRP1_ENST00000577119.1_Intron|NLRP1_ENST00000572272.1_Missense_Mutation_p.M967I|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.M967I|NLRP1_ENST00000262467.5_Missense_Mutation_p.M967I	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	967					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GTTCCTGCCTCATCTCATCAC	0.622000													14	26					0	0	1	0	0
SFXN4	119559	broad.mit.edu	37	10	120917539	120917539	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr10:120917539C>A	ENST00000355697.2	-	7	415	c.396G>T	c.(394-396)aaG>aaT	p.K132N	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.K123N	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	132					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		AAATCACGGACTTGATCCCTT	0.428000													8	52					5.4927e-09	5.75741e-09	1	1	0
MYH8	4626	broad.mit.edu	37	17	10301955	10301955	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr17:10301955G>A	ENST00000403437.2	-	30	4078	c.3984C>T	c.(3982-3984)gcC>gcT	p.A1328A	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1328					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGGCGTTCTTGGCCTGCAGAA	0.507000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				30	45					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121354670	121354670	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr8:121354670G>A	ENST00000297848.3	+	44	5143	c.4873G>A	c.(4873-4875)Gaa>Aaa	p.E1625K	COL14A1_ENST00000309791.4_Missense_Mutation_p.E1625K|COL14A1_ENST00000247781.3_Missense_Mutation_p.E1530K	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1625					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCAAGTATGCGAACAGCTCAT	0.478000													14	33					0	0	1	0	0
LRRC48	83450	broad.mit.edu	37	17	17891328	17891328	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr17:17891328G>A	ENST00000313838.8	+	6	739	c.360G>A	c.(358-360)cgG>cgA	p.R120R	LRRC48_ENST00000399187.1_Silent_p.R120R|LRRC48_ENST00000399182.1_Silent_p.R120R|LRRC48_ENST00000411504.2_Silent_p.R120R|LRRC48_ENST00000584166.1_Silent_p.R120R	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	120						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TCAACAACCGGATCTCCAAGA	0.557000													4	45					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130220635	130220635	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chrX:130220635T>A	ENST00000276211.5	+	11	1827	c.1482T>A	c.(1480-1482)gaT>gaA	p.D494E	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.D358E|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.D482E	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	494					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						AGCCTTCTGATGAAGGTCAGT	0.537000													7	32					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153215717	153215717	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chrX:153215717G>A	ENST00000310441.7	-	24	6947	c.5981C>T	c.(5980-5982)gCc>gTc	p.A1994V	HCFC1_ENST00000369984.4_Missense_Mutation_p.A2039V|HCFC1_ENST00000354233.3_Missense_Mutation_p.A1925V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1994					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACTTGTGTGGCCGGGCCATA	0.622000													26	11					0	0	1	0	0
MROH9	80133	broad.mit.edu	37	1	170959143	170959143	+	Splice_Site	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr1:170959143G>A	ENST00000367759.4	+	11	1181	c.1028_splice	c.e11+1	p.D343_splice	MROH9_ENST00000367758.3_Splice_Site_p.D343_splice	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		TCCAGCAGACGAGTAAGGCCC	0.488000													6	22					0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8758041	8758041	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr12:8758041G>A	ENST00000229335.6	-	3	300	c.197C>T	c.(196-198)tCg>tTg	p.S66L	AICDA_ENST00000537228.1_Missense_Mutation_p.S66L	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	66					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GTCCCAGTCCGAGATGTAGCG	0.587000													17	126					0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	25944551	25944551	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr1:25944551C>T	ENST00000374332.4	+	1	593	c.263C>T	c.(262-264)gCg>gTg	p.A88V	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	88					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		gcccccgccgcgccggccccg	0.786000													4	7					0	0	1	0	0
CLOCK	9575	broad.mit.edu	37	4	56310930	56310930	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr4:56310930C>A	ENST00000309964.4	-	18	1812	c.1562G>T	c.(1561-1563)gGa>gTa	p.G521V	CLOCK_ENST00000513440.1_Missense_Mutation_p.G521V|CLOCK_ENST00000381322.1_Missense_Mutation_p.G521V	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	521	Implicated in the circadian rhythmicity (By similarity).				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TTGCATGGCTCCTAATTGAGC	0.338000													19	24					6.49762e-13	6.97892e-13	1	1	0
HACL1	26061	broad.mit.edu	37	3	15613185	15613185	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:15613185G>A	ENST00000321169.5	-	12	1452	c.1085C>T	c.(1084-1086)gCt>gTt	p.A362V	HACL1_ENST00000435217.2_Missense_Mutation_p.A121V|HACL1_ENST00000451445.2_Missense_Mutation_p.A280V|HACL1_ENST00000457447.2_Intron|HACL1_ENST00000456194.2_Missense_Mutation_p.A335V	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	362					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CTTGGATGCAGCTTCATTGCT	0.408000													15	76					0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131915735	131915735	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr5:131915735G>A	ENST00000378823.3	+	5	1134	c.316G>A	c.(316-318)Gag>Aag	p.E106K	RAD50_ENST00000265335.6_Missense_Mutation_p.E245K|RAD50_ENST00000487596.1_3'UTR	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	245					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAAATCCTATGAGAATGAACT	0.294000								Homologous recombination					33	66					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182835672	182835672	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr1:182835672G>A	ENST00000367549.3	+	13	1536	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	476	Helicase ATP-binding.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CGTTCGATTTGAGTCTATACT	0.428000													57	151					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11696943	11696943	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr17:11696943G>C	ENST00000262442.3	+	42	8253	c.8185G>C	c.(8185-8187)Gat>Cat	p.D2729H	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2729H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2729					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGATCTTTTTGATAAAATCCA	0.323000													13	36					0	0	1	0	0
SHARPIN	81858	broad.mit.edu	37	8	145154328	145154328	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr8:145154328G>A	ENST00000398712.2	-	6	1210	c.774C>T	c.(772-774)ttC>ttT	p.F258F		NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	258	Interaction with SHANK1 (By similarity).|Ubiquitin-like.				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGAGCTCTGAGAACACCTGTG	0.652000													9	27					0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57147439	57147439	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr18:57147439G>A	ENST00000439986.4	-	3	281	c.244C>T	c.(244-246)Ctt>Ttt	p.L82F	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	82					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CATTGTCCAAGAACAAATTTA	0.284000													27	24					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167033577	167033577	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:167033577G>C	ENST00000392766.2	-	15	1575	c.1235C>G	c.(1234-1236)cCt>cGt	p.P412R	ZBBX_ENST00000307529.5_Missense_Mutation_p.P412R|ZBBX_ENST00000392764.1_Missense_Mutation_p.P383R|ZBBX_ENST00000455345.2_Missense_Mutation_p.P412R|ZBBX_ENST00000392767.2_Missense_Mutation_p.P412R	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	412						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						AACTTTGTAAGGCACAATATT	0.303000													10	41					0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30665567	30665567	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr16:30665567A>G	ENST00000542965.2	+	6	1021	c.565A>G	c.(565-567)Ata>Gta	p.I189V	PRR14_ENST00000300835.4_Missense_Mutation_p.I189V			Q9BWN1	PRR14_HUMAN	proline rich 14	189	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GCCCATGAGGATAGTTCGCCA	0.587000													15	239					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184005699	184005699	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:184005699C>T	ENST00000402825.3	+	11	1692	c.1692C>T	c.(1690-1692)ttC>ttT	p.F564F	ECE2_ENST00000357474.5_Silent_p.F492F|ECE2_ENST00000404464.3_Silent_p.F446F|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Silent_p.F417F	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	564	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTCCCTCTTCGTGAAGGCCA	0.498000													15	58					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								5	58					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530936	80530936	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr2:80530936G>A	ENST00000295057.3	-	2	665	c.9C>T	c.(7-9)ttC>ttT	p.F3F	CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.F3F|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	3						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						CGAGCAGCAGGAAATCCATTA	0.557000										HNSCC(69;0.2)			11	42					0	0	1	0	0
XRCC4	7518	broad.mit.edu	37	5	82491695	82491695	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr5:82491695A>C	ENST00000282268.3	+	4	597	c.422A>C	c.(421-423)aAt>aCt	p.N141T	XRCC4_ENST00000511817.1_Missense_Mutation_p.N141T|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000338635.6_Missense_Mutation_p.N141T|XRCC4_ENST00000396027.4_Missense_Mutation_p.N141T	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	141					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		CAAGCCAAAAATGAGCACCTG	0.403000								Non-homologous end-joining					10	72					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167645222	167645222	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr5:167645222G>A	ENST00000519204.1	+	22	4081	c.3963G>A	c.(3961-3963)gaG>gaA	p.E1321E	TENM2_ENST00000520394.1_Silent_p.E1203E|TENM2_ENST00000545108.1_Silent_p.E1441E|TENM2_ENST00000403607.2_Silent_p.E1266E|TENM2_ENST00000518659.1_Silent_p.E1442E					teneurin transmembrane protein 2																		GAATCACCGAGAACCACCAAG	0.507000													43	110					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48689469	48689469	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:48689469C>T	ENST00000544264.1	-	12	6044	c.5764G>A	c.(5764-5766)Ggc>Agc	p.G1922S	CELSR3_ENST00000164024.4_Missense_Mutation_p.G1922S			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1922	Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTGTGGAGCCGAGCCACACC	0.647000													3	28					0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5290881	5290881	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr11:5290881G>T	ENST00000380237.1	-	4	462	c.118C>A	c.(118-120)Cag>Aag	p.Q40K	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.Q40K|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	40					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAAATCTCTGGGTCCAGGGG	0.463000													17	41					4.7546e-09	5.00384e-09	1	1	0
MBOAT7	79143	broad.mit.edu	37	19	54677887	54677887	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr19:54677887G>A	ENST00000245615.1	-	8	1750	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W	MBOAT7_ENST00000338624.6_Missense_Mutation_p.R351W|MBOAT7_ENST00000431666.2_Missense_Mutation_p.R351W	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	424					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCAGTACCGAAGGGTGTCG	0.647000													17	102					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61234050	61234050	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr18:61234050T>C	ENST00000382768.1	+	7	1084	c.1084T>C	c.(1084-1086)Tca>Cca	p.S362P	SERPINB12_ENST00000269491.1_Missense_Mutation_p.S342P			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	342					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTTGTACTTGTCAAAAATTAT	0.448000													32	136					0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44222839	44222839	+	Silent	SNP	C	C	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr19:44222839C>A	ENST00000244314.5	+	2	328	c.129C>A	c.(127-129)ctC>ctA	p.L43L		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	43						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CCTCTCACCTCCAGGAGCTGC	0.667000													34	48					6.53348e-20	7.10516e-20	1	1	0
GNL1	2794	broad.mit.edu	37	6	30521243	30521243	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr6:30521243G>A	ENST00000376621.3	-	6	1662	c.692C>T	c.(691-693)cCg>cTg	p.P231L		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	231					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AAGAGCTGGCGGGGCCAGATC	0.542000													30	82					0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6599185	6599185	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr17:6599185C>A	ENST00000433363.2	-	7	1148	c.915G>T	c.(913-915)gaG>gaT	p.E305D	SLC13A5_ENST00000381074.4_Missense_Mutation_p.E262D|SLC13A5_ENST00000573648.1_Missense_Mutation_p.E305D|SLC13A5_ENST00000293800.6_Missense_Mutation_p.E288D	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	305						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GCTTCCGGTACTCCTCCTGCA	0.557000													33	84					3.21399e-22	3.52459e-22	1	1	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													3	21					0	0	1	0	0
HTR3D	200909	broad.mit.edu	37	3	183756393	183756393	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:183756393C>T	ENST00000382489.3	+	7	1116	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	HTR3D_ENST00000428798.2_Silent_p.L322L|HTR3D_ENST00000334128.2_Silent_p.L197L|HTR3D_ENST00000453435.1_Silent_p.L151L	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	372						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCCCGGGTCTCACCCCCACCC	0.642000													4	30					0	0	1	0	0
SPDEF	25803	broad.mit.edu	37	6	34507128	34507128	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr6:34507128G>A	ENST00000374037.3	-	5	1142	c.728C>T	c.(727-729)tCa>tTa	p.S243L	SPDEF_ENST00000544425.1_Missense_Mutation_p.S227L	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	243					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CCCGGAGCATGATGAGTCCAC	0.622000													42	126					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:126707544T>G	ENST00000393409.2	+	1	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G	PLXNA1_ENST00000251772.4_Silent_p.G13G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.G13G(4)		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)		CAGGCGGGGGTTCACAGCCCC	0.682000													10	37					0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159129394	159129394	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr6:159129394G>A	ENST00000297239.9	+	7	681	c.487G>A	c.(487-489)Gag>Aag	p.E163K	SYTL3_ENST00000360448.3_Missense_Mutation_p.E163K|SYTL3_ENST00000367081.3_Intron			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	163					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TCCTGTCAGCGAGAGCCAGTG	0.517000													18	45					0	0	1	0	0
TTC23	64927	broad.mit.edu	37	15	99758831	99758831	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr15:99758831C>T	ENST00000394132.2	-	8	1360	c.543G>A	c.(541-543)tgG>tgA	p.W181*	TTC23_ENST00000558613.1_Nonsense_Mutation_p.W181*|TTC23_ENST00000558663.1_Nonsense_Mutation_p.W181*|TTC23_ENST00000262074.4_Nonsense_Mutation_p.W181*|TTC23_ENST00000394129.2_Nonsense_Mutation_p.W181*|TTC23_ENST00000394135.3_Nonsense_Mutation_p.W181*|TTC23_ENST00000394130.1_Nonsense_Mutation_p.W181*|TTC23_ENST00000394136.1_Nonsense_Mutation_p.W181*			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	181							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			CAATTTCTATCCATTCTTCCT	0.383000													90	62					0	0	1	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57994655	57994655	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr12:57994655G>A	ENST00000354947.5	+	8	891	c.875G>A	c.(874-876)cGg>cAg	p.R292Q	PIP4K2C_ENST00000540759.2_Missense_Mutation_p.R292Q|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.R244Q|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.R274Q			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	292	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GACATCATTCGGGGCTCTGAA	0.562000													71	151					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8619446	8619446	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr19:8619446C>T	ENST00000338257.8	-	4	508	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	81	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGGGGATTCTCATACTGGGCC	0.617000													23	47					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80863819	80863819	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr17:80863819G>A	ENST00000355528.4	+	20	1942	c.1812G>A	c.(1810-1812)ccG>ccA	p.P604P	TBCD_ENST00000539345.2_Silent_p.P604P|TBCD_ENST00000397466.2_Silent_p.P218P	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	604					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CAGTCTTCCCGAGGCTGCTGT	0.607000													8	10					0	0	1	0	0
TUBG2	27175	broad.mit.edu	37	17	40812702	40812702	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr17:40812702G>A	ENST00000251412.7	+	4	575	c.376G>A	c.(376-378)Gca>Aca	p.A126T		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	126					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		AGACCGAGAAGCAGATGGAAG	0.507000													10	11					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45221110	45221110	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr20:45221110G>C	ENST00000279027.4	-	6	871	c.853C>G	c.(853-855)Ctt>Gtt	p.L285V	SLC13A3_ENST00000495082.1_Missense_Mutation_p.L238V|SLC13A3_ENST00000372121.1_Intron|SLC13A3_ENST00000290317.5_Missense_Mutation_p.L238V|SLC13A3_ENST00000413164.2_Intron|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000472148.1_Missense_Mutation_p.L238V|SLC13A3_ENST00000396360.1_Missense_Mutation_p.L238V	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	285						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AACAGCATAAGAGGGAAGGCG	0.522000													7	27					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89392799	89392799	+	RNA	SNP	G	G	A	rs10830330	by1000genomes	TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr11:89392799G>A	ENST00000532352.1	+	0	622							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CTATCCAGACGGTTGGAATCT	0.512000													3	31					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672489	186672489	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr2:186672489G>A	ENST00000343098.5	+	17	18723	c.18723G>A	c.(18721-18723)aaG>aaA	p.K6241K	FSIP2_ENST00000424728.1_Silent_p.K6152K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCGTTGAAAAGATCCTTAAAG	0.393000													16	38					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546807	11546807	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr12:11546807G>C	ENST00000389362.4	-	3	240	c.205C>G	c.(205-207)Caa>Gaa	p.Q69E	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGGACCTTGAGGCTGGTTG	0.607000													69	490					0	0	1	0	0
DZIP1L	199221	broad.mit.edu	37	3	137816636	137816636	+	Silent	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:137816636G>T	ENST00000327532.2	-	3	917	c.555C>A	c.(553-555)atC>atA	p.I185I	DZIP1L_ENST00000469243.1_Silent_p.I185I	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	185						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						gcctgcgctggatgtggcccc	0.577000											OREG0015831	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	30					0.27861	0.27861	1	1	0
COPA	1314	broad.mit.edu	37	1	160303419	160303419	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr1:160303419C>T	ENST00000241704.7	-	5	589	c.360G>A	c.(358-360)tgG>tgA	p.W120*	COPA_ENST00000368069.3_Nonsense_Mutation_p.W120*	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	120					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTGCCAGTTCCACACTCGGA	0.413000													22	44					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728762	20728762	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr19:20728762G>A	ENST00000427401.4	-	4	341	c.247C>T	c.(247-249)Cga>Tga	p.R83*		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	83					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CAAAGATCTCGGGCAAAATGA	0.328000													3	20					0	0	1	0	0
SLC33A1	9197	broad.mit.edu	37	3	155560316	155560316	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:155560316C>T	ENST00000392845.2	-	2	1248	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	SLC33A1_ENST00000359479.3_Missense_Mutation_p.E290K	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	290					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCTTGTGTTTCTTCTTTTACT	0.338000													6	46					0	0	1	0	0
MMP17	4326	broad.mit.edu	37	12	132325377	132325377	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr12:132325377G>A	ENST00000360564.1	+	4	784	c.682G>A	c.(682-684)Gag>Aag	p.E228K	MMP17_ENST00000535182.1_3'UTR|MMP17_ENST00000535291.1_Missense_Mutation_p.E144K	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	228					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		TGACGATGACGAGGCCTGGAC	0.711000													7	21					0	0	1	0	0
KLF14	136259	broad.mit.edu	37	7	130417929	130417929	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr7:130417929G>A	ENST00000310992.4	-	1	959	c.932C>T	c.(931-933)tCc>tTc	p.S311F		NM_138693.2	NP_619638.1	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GCCGGGACCGGAGCCGGAGGC	0.627000													3	14					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	79878679	79878679	+	Splice_Site	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr2:79878679G>A	ENST00000361291.4	+	2	99	c.97_splice	c.e2-1	p.G33_splice	CTNNA2_ENST00000409266.1_5'UTR|CTNNA2_ENST00000402739.4_5'UTR|CTNNA2_ENST00000496558.1_5'UTR|CTNNA2_ENST00000466387.1_5'UTR			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	0					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TTCCCATAGGGAGCATGACTT	0.388000													19	40					0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158115563	158115563	+	Silent	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr2:158115563G>C	ENST00000259056.4	+	1	1454	c.969G>C	c.(967-969)gtG>gtC	p.V323V		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	323					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GCCATCTTGTGATTATAACCA	0.388000													27	72					0	0	1	0	0
LCN2	3934	broad.mit.edu	37	9	130914289	130914289	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr9:130914289A>C	ENST00000540948.1	+	4	533	c.460A>C	c.(460-462)Aag>Cag	p.K154Q	LCN2_ENST00000372998.1_Missense_Mutation_p.K156Q|LCN2_ENST00000373013.2_Missense_Mutation_p.K156Q|LCN2_ENST00000373017.1_Missense_Mutation_p.K154Q|LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000277480.2_Missense_Mutation_p.K154Q			P80188	NGAL_HUMAN	lipocalin 2	154					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						GGAGTACTTCAAGATCACCCT	0.547000													24	79					0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86919185	86919185	+	Silent	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr1:86919185G>T	ENST00000370565.4	+	13	2451	c.2289G>T	c.(2287-2289)gtG>gtT	p.V763V	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	763					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACCCTGATGTGTTTCCACCAT	0.517000													22	61					1.10513e-12	1.18213e-12	1	1	0
TRMT2B	79979	broad.mit.edu	37	X	100290613	100290613	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chrX:100290613G>C	ENST00000338687.7	-	6	1268	c.463C>G	c.(463-465)Caa>Gaa	p.Q155E	TRMT2B_ENST00000372936.3_Missense_Mutation_p.Q200E|TRMT2B_ENST00000545398.1_Missense_Mutation_p.Q200E|TRMT2B_ENST00000372935.1_Missense_Mutation_p.Q200E|TRMT2B_ENST00000372931.5_Missense_Mutation_p.Q200E|TRMT2B_ENST00000372939.1_Missense_Mutation_p.Q155E|TRMT2B_ENST00000478422.1_5'UTR			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	200							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TGCGCCACTTGACTGTGTTTC	0.393000													24	31					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056817	9056817	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr19:9056817G>A	ENST00000397910.4	-	3	30832	c.30629C>T	c.(30628-30630)tCa>tTa	p.S10210L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10212	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						GTCTGGGGATGATGTTTTTGC	0.468000													11	48					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35668562	35668562	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr20:35668562G>A	ENST00000373664.3	-	14	1963	c.1897C>T	c.(1897-1899)Cga>Tga	p.R633*	RBL1_ENST00000344359.3_Nonsense_Mutation_p.R633*	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	633	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CTACCTCTTCGAAGACTCCCA	0.413000													33	83					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32088427	32088427	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr5:32088427C>G	ENST00000438447.1	+	20	5261	c.4873C>G	c.(4873-4875)Cct>Gct	p.P1625A	PDZD2_ENST00000282493.3_Missense_Mutation_p.P1625A			O15018	PDZD2_HUMAN	PDZ domain containing 2	1625					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGCCATCTGTCCTGCCTCAGC	0.557000													54	124					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291674	141291674	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chrX:141291674C>T	ENST00000247452.3	-	3	447	c.100G>A	c.(100-102)Gag>Aag	p.E34K		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	34	Poly-Glu.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTTCCTCATCTGTGGGA	0.522000										HNSCC(46;0.14)			45	41					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20243630	20243630	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr20:20243630C>G	ENST00000245957.5	+	21	2435	c.2359C>G	c.(2359-2361)Caa>Gaa	p.Q787E	C20orf26_ENST00000377309.2_Missense_Mutation_p.Q143E|C20orf26_ENST00000377293.1_Missense_Mutation_p.Q143E|RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000389656.3_Missense_Mutation_p.Q143E	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	787										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGATATTAGTCAACACCTGAC	0.443000													12	31					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3880020	3880020	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr18:3880020C>T	ENST00000315677.3	-	4	644	c.49G>A	c.(49-51)Gac>Aac	p.D17N	DLGAP1_ENST00000581527.1_Missense_Mutation_p.D17N|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.D17N|DLGAP1_ENST00000515196.2_Missense_Mutation_p.D17N	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	17					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)				CAGGCCGAGTCGCAGGTGACC	0.662000													14	29					0	0	1	0	0
TRGV3	6976	broad.mit.edu	37	7	38398224	38398224	+	RNA	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr7:38398224G>C	ENST00000390346.2	-	0	425																											TTCCTGGACTGAGTCCTGATT	0.483000													28	78					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78882729	78882729	+	Splice_Site	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr17:78882729G>A	ENST00000306801.3	+	21	2882	c.2520_splice	c.e21+1	p.K840_splice	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Splice_Site_p.K682_splice	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	840					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCGCCTACAAGGTACGTGCCG	0.587000													35	103					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43547845	43547845	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr21:43547845C>T	ENST00000400427.1	+	19	4158	c.3762C>T	c.(3760-3762)ttC>ttT	p.F1254F	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Silent_p.F1326F|UMODL1_ENST00000400424.1_Silent_p.F1126F|UMODL1_ENST00000408910.2_Silent_p.F1198F	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1198						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AGGCCCAGTTCAAGCTGAGGA	0.517000													12	47					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191874723	191874723	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr2:191874723G>A	ENST00000361099.3	-	3	394	c.7C>T	c.(7-9)Cag>Tag	p.Q3*	STAT1_ENST00000409465.1_Nonsense_Mutation_p.Q3*|STAT1_ENST00000540176.1_Nonsense_Mutation_p.Q3*|STAT1_ENST00000392323.2_Nonsense_Mutation_p.Q5*|STAT1_ENST00000392322.3_Nonsense_Mutation_p.Q3*	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	3					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TCGTACCACTGAGACATCCTA	0.403000													18	22					0	0	1	0	0
LSG1	55341	broad.mit.edu	37	3	194362968	194362968	+	Silent	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:194362968C>G	ENST00000265245.5	-	14	2120	c.1806G>C	c.(1804-1806)gtG>gtC	p.V602V	AC046143.3_ENST00000447139.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	602					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TCAAAGCCCTCACATTCTCCT	0.488000													14	53					0	0	1	0	0
GPRASP2	114928	broad.mit.edu	37	X	101971015	101971015	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chrX:101971015C>G	ENST00000543253.1	+	5	2137	c.1218C>G	c.(1216-1218)atC>atG	p.I406M	GPRASP2_ENST00000535209.1_Missense_Mutation_p.I406M|GPRASP2_ENST00000332262.5_Missense_Mutation_p.I406M	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CTTCAGCAATCTGTGAATCTG	0.547000													3	37					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112438963	112438963	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr6:112438963C>G	ENST00000230538.7	-	35	5357	c.4960G>C	c.(4960-4962)Gaa>Caa	p.E1654Q	LAMA4_ENST00000424408.2_Missense_Mutation_p.E1647Q|LAMA4_ENST00000522006.1_Missense_Mutation_p.E1647Q|LAMA4_ENST00000389463.4_Missense_Mutation_p.E1647Q	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1654	Laminin G-like 5.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TATCCTCCTTCTGTTGAAAAG	0.458000													33	94					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130774941	130774941	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr8:130774941T>C	ENST00000276708.4	-	5	1488	c.607A>G	c.(607-609)Aag>Gag	p.K203E		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	203						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GTCAGCGCCTTCTTCTTCACT	0.468000													50	113					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614473	3614473	+	RNA	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr16:3614473C>T	ENST00000301749.7	-	0	870				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGAAGTGCCTCACCAGGGTGG	0.657000													32	13					0	0	1	0	0
NEDD1	121441	broad.mit.edu	37	12	97345265	97345265	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr12:97345265C>T	ENST00000266742.4	+	15	2206	c.1867C>T	c.(1867-1869)Cat>Tat	p.H623Y	NEDD1_ENST00000411739.2_Missense_Mutation_p.H534Y|NEDD1_ENST00000429527.2_Missense_Mutation_p.H623Y|NEDD1_ENST00000557644.1_Missense_Mutation_p.H630Y|NEDD1_ENST00000457368.2_Missense_Mutation_p.H534Y	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	623					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TAAACAGTTTCATATGCAACT	0.274000													10	30					0	0	1	0	0
KLF6	1316	broad.mit.edu	37	10	3822362	3822362	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr10:3822362C>G	ENST00000497571.1	-	3	996	c.736G>C	c.(736-738)Gag>Cag	p.E246Q	KLF6_ENST00000542957.1_Intron|KLF6_ENST00000173785.4_5'UTR	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	246					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)		CTGGTTAACTCATCACTTCTT	0.542000													24	80					0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855801	79855801	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr5:79855801G>T	ENST00000338682.3	-	5	710	c.38C>A	c.(37-39)tCc>tAc	p.S13Y		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	13						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TTTGATCAAGGAATTTCCTTC	0.458000													15	58					1.5739e-10	1.67668e-10	1	1	0
BTBD7	55727	broad.mit.edu	37	14	93709138	93709138	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr14:93709138G>A	ENST00000334746.5	-	11	3187	c.2880C>T	c.(2878-2880)ctC>ctT	p.L960L	BTBD7_ENST00000554565.1_Silent_p.L609L|BTBD7_ENST00000393170.2_Silent_p.L534L	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	960										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGCGTCTGCTGAGAGCAGGAG	0.478000													24	34					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49694791	49694791	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:49694791G>A	ENST00000296452.4	+	5	7916	c.7802G>A	c.(7801-7803)cGa>cAa	p.R2601Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2601	Poly-Arg.				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TTGAGTCGGCGACGCCGGGCA	0.647000													14	32					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43483921	43483921	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr7:43483921G>A	ENST00000395891.1	+	11	1755	c.1150G>A	c.(1150-1152)Gca>Aca	p.A384T	HECW1_ENST00000453890.1_Missense_Mutation_p.A384T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	384					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCGGTCTGAGGCACCAGAGTC	0.577000													17	29					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113569178	113569178	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr8:113569178C>T	ENST00000297405.5	-	25	4292	c.4048G>A	c.(4048-4050)Gaa>Aaa	p.E1350K	CSMD3_ENST00000455883.2_Missense_Mutation_p.E1246K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E1310K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E1350K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1350						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTGAGAGTTCAAAACCTGGG	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	22					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66945110	66945110	+	Silent	SNP	C	C	G	rs148829305		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr16:66945110C>G	ENST00000299752.4	-	14	2092	c.1899G>C	c.(1897-1899)acG>acC	p.T633T	CDH16_ENST00000394055.3_Silent_p.T633T|CDH16_ENST00000568632.1_Silent_p.T536T|CDH16_ENST00000565796.1_Silent_p.T633T|CDH16_ENST00000570262.1_Silent_p.T553T	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	633	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCACAAGCACCGTGTAGGTGT	0.612000													9	18					0	0	1	0	0
CYB5R2	51700	broad.mit.edu	37	11	7689018	7689018	+	Missense_Mutation	SNP	G	G	A	rs149733078		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr11:7689018G>A	ENST00000533558.1	-	7	1055	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	CYB5R2_ENST00000299497.9_Missense_Mutation_p.R167C|CYB5R2_ENST00000524790.1_Missense_Mutation_p.R167C|CYB5R2_ENST00000299498.6_Missense_Mutation_p.R167C|CYB5R2_ENST00000528585.1_5'UTR			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	167					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTGATGTGGCGAATGAGCTGC	0.552000													19	68					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11135091	11135091	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr19:11135091G>A	ENST00000358026.2	+	21	3342	c.3058G>A	c.(3058-3060)Gat>Aat	p.D1020N	SMARCA4_ENST00000450717.3_Missense_Mutation_p.D1020N|SMARCA4_ENST00000429416.3_Missense_Mutation_p.D1020N|SMARCA4_ENST00000590574.1_Missense_Mutation_p.D1020N|SMARCA4_ENST00000413806.3_Missense_Mutation_p.D1020N|SMARCA4_ENST00000444061.3_Missense_Mutation_p.D1020N|SMARCA4_ENST00000541122.2_Missense_Mutation_p.D1020N|SMARCA4_ENST00000589677.1_Missense_Mutation_p.D1020N|SMARCA4_ENST00000344626.4_Missense_Mutation_p.D1020N	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1020					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCTGCTGACTGATGGCTCCGA	0.627000			"""F, N, Mis"""		NSCLC								15	26					0	0	1	0	0
KIAA0513	9764	broad.mit.edu	37	16	85106591	85106591	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr16:85106591G>T	ENST00000566428.1	+	4	1121	c.490G>T	c.(490-492)Gtg>Ttg	p.V164L	KIAA0513_ENST00000567328.1_Missense_Mutation_p.V164L|KIAA0513_ENST00000538274.1_Missense_Mutation_p.V164L|KIAA0513_ENST00000258180.3_Missense_Mutation_p.V164L			O60268	K0513_HUMAN	KIAA0513	164						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		GTCTTTTGCAGTGGTGCTGTT	0.567000													20	65					8.04996e-18	8.718e-18	1	1	0
TBC1D10A	83874	broad.mit.edu	37	22	30722748	30722748	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr22:30722748G>A	ENST00000215790.7	-	1	287	c.123C>T	c.(121-123)ctC>ctT	p.L41L	TBC1D10A_ENST00000490449.1_5'UTR|TBC1D10A_ENST00000403477.3_Silent_p.L41L	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	41						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGTCAGACCCGAGAGAGCTGA	0.731000													12	34					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204009620	204009620	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr2:204009620G>C	ENST00000449802.1	+	31	5392	c.5059G>C	c.(5059-5061)Gaa>Caa	p.E1687Q		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1687							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGTTTACATTGAAAAATATGT	0.259000													6	8					0	0	1	0	0
NR1I2	8856	broad.mit.edu	37	3	119528935	119528935	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:119528935G>A	ENST00000393716.2	+	3	2064	c.225G>A	c.(223-225)ctG>ctA	p.L75L	NR1I2_ENST00000466380.1_Silent_p.L75L|NR1I2_ENST00000337940.4_Silent_p.L114L	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	75					drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	ACGCCCGGCTGAGGTGCCCCT	0.697000													10	58					0	0	1	0	0
PTRF	284119	broad.mit.edu	37	17	40574759	40574759	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr17:40574759G>A	ENST00000357037.5	-	1	776	c.357C>T	c.(355-357)gtC>gtT	p.V119V		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	119					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		TCTTCACGTTGACGCTGACCT	0.642000													3	12					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43847849	43847849	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr12:43847849G>T	ENST00000389420.3	-	12	1620	c.1621C>A	c.(1621-1623)Cgt>Agt	p.R541S	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R541S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	541	Disintegrin.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGCCCATGACGGCAATGCTAT	0.368000													8	27					0.00448238	0.00455215	1	1	0
ADCY1	107	broad.mit.edu	37	7	45753517	45753517	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr7:45753517G>A	ENST00000297323.7	+	20	3305	c.3283G>A	c.(3283-3285)Gtc>Atc	p.V1095I		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1095					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CATGCCTGGCGTCTCAGTCAG	0.652000													19	57					0	0	1	0	0
TMEM168	64418	broad.mit.edu	37	7	112412901	112412901	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr7:112412901C>G	ENST00000312814.5	-	4	2041	c.1481G>C	c.(1480-1482)aGa>aCa	p.R494T	TMEM168_ENST00000454074.1_Missense_Mutation_p.R494T	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	494						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CGTATCATGTCTGGGTCCATC	0.443000													21	51					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248005106	248005106	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr1:248005106G>T	ENST00000355784.2	-	1	148	c.93C>A	c.(91-93)ttC>ttA	p.F31L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGATGAGCAGGAAAATGACAA	0.507000													11	36					5.50884e-06	5.70558e-06	1	1	0
TMC8	147138	broad.mit.edu	37	17	76134712	76134712	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr17:76134712G>A	ENST00000318430.5	+	14	2096	c.1722G>A	c.(1720-1722)gtG>gtA	p.V574V	TMC8_ENST00000589691.1_Silent_p.V351V|TMC8_ENST00000591144.1_3'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	574						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CCTGGCAAGTGGTCCCGGAGC	0.657000													27	75					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72397811	72397811	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr4:72397811C>T	ENST00000340595.3	+	14	2263	c.2067C>T	c.(2065-2067)atC>atT	p.I689I	SLC4A4_ENST00000351898.6_Silent_p.I733I|SLC4A4_ENST00000425175.1_Silent_p.I733I|SLC4A4_ENST00000264485.5_Silent_p.I733I	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	733						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTGCCATTATCTTGTCCATTC	0.378000													13	38					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71494584	71494584	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr5:71494584C>T	ENST00000296755.7	+	5	5700	c.5402C>T	c.(5401-5403)tCa>tTa	p.S1801L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1801						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCTACTTTTTCAGATTCTACC	0.473000													13	63					0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45769536	45769536	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr19:45769536G>A	ENST00000300843.4	+	7	843	c.546G>A	c.(544-546)ctG>ctA	p.L182L	MARK4_ENST00000262891.4_Silent_p.L182L	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	182	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ACAGGGACCTGAAGGTAAGCC	0.562000													61	76					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158140039	158140039	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr5:158140039C>T	ENST00000313708.6	-	13	1590	c.1308G>A	c.(1306-1308)gtG>gtA	p.V436V	EBF1_ENST00000380654.4_Silent_p.V405V|EBF1_ENST00000517373.1_Silent_p.V428V|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	436					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAACGAATTCACGCCCATCA	0.577000			T	HMGA2	lipoma								22	45					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128483349	128483349	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr7:128483349G>A	ENST00000325888.8	+	17	2878	c.2617G>A	c.(2617-2619)Gag>Aag	p.E873K	FLNC_ENST00000346177.6_Missense_Mutation_p.E873K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	873					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGTCAAGGCCGAGGGCCCTGG	0.642000													4	9					0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8212581	8212581	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr12:8212581C>T	ENST00000307637.4	-	2	404	c.201G>A	c.(199-201)gcG>gcA	p.A67A		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	67					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AGAGGAGGTCCGCCAAGGTGA	0.592000													8	65					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325297	31325297	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr18:31325297A>C	ENST00000269197.5	+	12	5485	c.5485A>C	c.(5485-5487)Aag>Cag	p.K1829Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1829					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCACCCCAAAAAGAGAGTAGC	0.483000													44	173					0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42786685	42786685	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr17:42786685C>T	ENST00000315005.3	+	2	171	c.33C>T	c.(31-33)ctC>ctT	p.L11L	DBF4B_ENST00000398338.3_Silent_p.L11L|DBF4B_ENST00000393547.2_Silent_p.L11L|DBF4B_ENST00000526915.1_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	11					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				ACGATTGCCTCGAGCTGGAGA	0.562000													102	244					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52911973	52911973	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr1:52911973C>G	ENST00000371544.3	-	22	3917	c.3655G>C	c.(3655-3657)Gag>Cag	p.E1219Q	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E1219Q	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1219	PAP-associated 2.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CACTGCTTCTCAAAAGTTGTC	0.393000													25	67					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10715845	10715857	+	Frame_Shift_Del	DEL	ATCACGTCCTGCT	ATCACGTCCTGCT	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:10715845_10715857delATCACGTCCTGCT	ENST00000377022.3	-	9	1831_1843	c.1514_1526delAGCAGGACGTGAT	c.(1513-1527)acfs	p.KQDVI505fs	CASZ1_ENST00000344008.5_Frame_Shift_Del_p.KQDVI505fs	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GTAGTGGCGGATCACGTCCTGCTTACTCGTGAA	0.629													17	31	---	---	---	---					
MACF1	23499	broad.mit.edu	37	1	39801943	39801943	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:39801943delA	ENST00000564288.1	+	37	10460	c.9683delA	c.(9682-9684)gafs	p.E3228fs	MACF1_ENST00000372915.3_Frame_Shift_Del_p.E3233fs|MACF1_ENST00000567887.1_Frame_Shift_Del_p.E3265fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.E1668fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3233					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTCAAATCTGAAATAGCAACA	0.398													7	102	---	---	---	---					
NCKAP5	344148	broad.mit.edu	37	2	133543004	133543004	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:133543004delG	ENST00000409261.1	-	14	1753	c.1380delC	c.(1378-1380)ccfs	p.P460fs	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.P460fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	460							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTTCCTTGCAGGGGCTCCCCA	0.478													14	49	---	---	---	---					
GALNT5	11227	broad.mit.edu	37	2	158115183	158115183	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:158115183delC	ENST00000259056.4	+	1	1074	c.589delC	c.(589-591)ccfs	p.P197fs		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	197					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AAAACAGGAGCCCCGGAAGAG	0.473													11	36	---	---	---	---					
MARCH4	57574	broad.mit.edu	37	2	217234943	217234945	+	In_Frame_Del	DEL	CAC	CAC	-	rs145386484		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:217234943_217234945delCAC	ENST00000273067.4	-	1	1805_1807	c.39_41delGTG	c.(37-42)tgc>tg	p.WC13del		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	13						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	p.W13delW(1)		breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GGAGCAGCAGCACCACCACCACC	0.616													2	4	---	---	---	---					
CAMKV	79012	broad.mit.edu	37	3	49898901	49898907	+	Frame_Shift_Del	DEL	AGTGCAA	AGTGCAA	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:49898901_49898907delAGTGCAA	ENST00000477224.1	-	5	884_890	c.406_412delTTGCACT	c.(406-414)cafs	p.LHS136fs	CAMKV_ENST00000466940.1_Intron|CAMKV_ENST00000488336.1_Frame_Shift_Del_p.LHS136fs|CAMKV_ENST00000296471.7_Frame_Shift_Del_p.LHS136fs|CAMKV_ENST00000463537.1_Frame_Shift_Del_p.LHS136fs|CAMKV_ENST00000467248.1_Frame_Shift_Del_p.LHS61fs|CAMKV_ENST00000498324.1_5'UTR			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	136	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ATCTTGAGTGAGTGCAAATAGGCCACG	0.609													7	47	---	---	---	---					
TNIK	23043	broad.mit.edu	37	3	170784400	170784409	+	Frame_Shift_Del	DEL	ACATCCTTAG	ACATCCTTAG	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:170784400_170784409delACATCCTTAG	ENST00000436636.2	-	31	4159_4168	c.3815_3824delCTAAGGATGT	c.(3814-3825)agfs	p.TKDV1272fs	TNIK_ENST00000488470.1_Frame_Shift_Del_p.TKDV1217fs|TNIK_ENST00000475336.1_Frame_Shift_Del_p.TKDV1180fs|TNIK_ENST00000470834.1_Frame_Shift_Del_p.TKDV1235fs|TNIK_ENST00000538048.1_Frame_Shift_Del_p.TKDV1224fs|TNIK_ENST00000460047.1_Frame_Shift_Del_p.TKDV1209fs|TNIK_ENST00000357327.5_Frame_Shift_Del_p.TKDV1243fs|TNIK_ENST00000341852.6_Frame_Shift_Del_p.TKDV1188fs|TNIK_ENST00000369326.5_Frame_Shift_Del_p.TKDV1250fs|TNIK_ENST00000284483.8_Frame_Shift_Del_p.TKDV1264fs	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1272	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTGGAGCACCACATCCTTAGTTATCCGGCC	0.448													14	122	---	---	---	---					
EIF4G1	1981	broad.mit.edu	37	3	184039744	184039746	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:184039744_184039746delGAA	ENST00000342981.4	+	9	1786_1788	c.1372_1374delGAA	c.(1372-1374)del	p.E465del	EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	465	Poly-Glu.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGGAAATGgaagaagaagaag	0.562													7	132	---	---	---	---					
FLNC	2318	broad.mit.edu	37	7	128490905	128490907	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:128490905_128490907delACA	ENST00000325888.8	+	33	5708_5710	c.5447_5449delACA	c.(5446-5451)gac>g	p.DN1816del	FLNC_ENST00000346177.6_In_Frame_Del_p.DN1783del|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1816					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AACATCACCGACAACAAGGACGG	0.596													27	73	---	---	---	---					
ARHGEF10	9639	broad.mit.edu	37	8	1905058	1905067	+	Frame_Shift_Del	DEL	GCACTTCCGA	GCACTTCCGA	-	rs145146038	byFrequency	TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:1905058_1905067delGCACTTCCGA	ENST00000518288.1	+	30	3899_3908	c.3736_3745delGCACTTCCGA	c.(3736-3747)gtfs	p.ALPS1246fs	ARHGEF10_ENST00000520359.1_Frame_Shift_Del_p.ALPS1184fs|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000349830.3_Frame_Shift_Del_p.ALPS1222fs|ARHGEF10_ENST00000262112.6_Frame_Shift_Del_p.ALPS1218fs|ARHGEF10_ENST00000398564.1_Frame_Shift_Del_p.ALPS1247fs			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1247					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	p.A999T(1)|p.A1247T(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCAGAAGGACGCACTTCCGAGTGGAGGAGC	0.590													15	70	---	---	---	---					
ANKRD30A	91074	broad.mit.edu	37	10	37482137	37482137	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr10:37482137delT	ENST00000374660.1	+	33	2853	c.2754delT	c.(2752-2754)tcfs	p.S918fs	ANKRD30A_ENST00000602533.1_Frame_Shift_Del_p.S799fs|ANKRD30A_ENST00000361713.1_Frame_Shift_Del_p.S799fs			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	969						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGAAAGTTTCTATTCCAACTA	0.264													12	72	---	---	---	---					
DNAH2	146754	broad.mit.edu	37	17	7734149	7734149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:7734149delT	ENST00000572933.1	+	79	13679	c.12219delT	c.(12217-12219)acfs	p.T4073fs	DNAH2_ENST00000389173.2_Frame_Shift_Del_p.T4073fs			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4073					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCTATCAACTCCCTTCCACC	0.567													13	21	---	---	---	---					
SERPINB2	5055	broad.mit.edu	37	18	61562580	61562581	+	Frame_Shift_Del	DEL	AG	AG	-	rs149564761	byFrequency	TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr18:61562580_61562581delAG	ENST00000457692.1	+	4	584_585	c.251_252delAG	c.(250-252)cfs	p.Q84fs	SERPINB2_ENST00000299502.4_Frame_Shift_Del_p.Q84fs|SERPINB2_ENST00000482254.1_3'UTR	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	84					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TTCATGCAGCAGATCCAGAAGG	0.431													14	229	---	---	---	---					
CASZ1	54897	broad.mit.edu	37	1	10715845	10715857	+	Frame_Shift_Del	DEL	ATCACGTCCTGCT	ATCACGTCCTGCT	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr1:10715845_10715857delATCACGTCCTGCT	ENST00000377022.3	-	9	1831_1843	c.1514_1526delAGCAGGACGTGAT	c.(1513-1527)acfs	p.KQDVI505fs	CASZ1_ENST00000344008.5_Frame_Shift_Del_p.KQDVI505fs	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GTAGTGGCGGATCACGTCCTGCTTACTCGTGAA	0.629													17	31	---	---	---	---					
MACF1	23499	broad.mit.edu	37	1	39801943	39801943	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr1:39801943delA	ENST00000564288.1	+	37	10460	c.9683delA	c.(9682-9684)gafs	p.E3228fs	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Frame_Shift_Del_p.E3265fs|MACF1_ENST00000372915.3_Frame_Shift_Del_p.E3233fs|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Frame_Shift_Del_p.E1668fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3233					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTCAAATCTGAAATAGCAACA	0.398													7	102	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)del	p.E40del	HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				8	84	---	---	---	---					
NCKAP5	344148	broad.mit.edu	37	2	133543004	133543004	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr2:133543004delG	ENST00000409261.1	-	14	1753	c.1380delC	c.(1378-1380)ccfs	p.P460fs	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.P460fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	460							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTTCCTTGCAGGGGCTCCCCA	0.478													14	49	---	---	---	---					
GALNT5	11227	broad.mit.edu	37	2	158115183	158115183	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr2:158115183delC	ENST00000259056.4	+	1	1074	c.589delC	c.(589-591)ccfs	p.P197fs		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	197					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AAAACAGGAGCCCCGGAAGAG	0.473													11	36	---	---	---	---					
MARCH4	57574	broad.mit.edu	37	2	217234943	217234945	+	In_Frame_Del	DEL	CAC	CAC	-	rs145386484		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr2:217234943_217234945delCAC	ENST00000273067.4	-	1	1805_1807	c.39_41delGTG	c.(37-42)tgc>tg	p.WC13del		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	13						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	p.W13delW(1)		breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GGAGCAGCAGCACCACCACCACC	0.616													2	4	---	---	---	---					
CAMKV	79012	broad.mit.edu	37	3	49898901	49898907	+	Frame_Shift_Del	DEL	AGTGCAA	AGTGCAA	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:49898901_49898907delAGTGCAA	ENST00000477224.1	-	5	884_890	c.406_412delTTGCACT	c.(406-414)cafs	p.LHS136fs	CAMKV_ENST00000463537.1_Frame_Shift_Del_p.LHS136fs|CAMKV_ENST00000488336.1_Frame_Shift_Del_p.LHS136fs|CAMKV_ENST00000467248.1_Frame_Shift_Del_p.LHS61fs|CAMKV_ENST00000296471.7_Frame_Shift_Del_p.LHS136fs|CAMKV_ENST00000466940.1_Intron|CAMKV_ENST00000498324.1_5'UTR			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	136	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ATCTTGAGTGAGTGCAAATAGGCCACG	0.609													7	47	---	---	---	---					
TNIK	23043	broad.mit.edu	37	3	170784400	170784409	+	Frame_Shift_Del	DEL	ACATCCTTAG	ACATCCTTAG	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr3:170784400_170784409delACATCCTTAG	ENST00000436636.2	-	31	4159_4168	c.3815_3824delCTAAGGATGT	c.(3814-3825)agfs	p.TKDV1272fs	TNIK_ENST00000341852.6_Frame_Shift_Del_p.TKDV1188fs|TNIK_ENST00000284483.8_Frame_Shift_Del_p.TKDV1264fs|TNIK_ENST00000538048.1_Frame_Shift_Del_p.TKDV1224fs|TNIK_ENST00000488470.1_Frame_Shift_Del_p.TKDV1217fs|TNIK_ENST00000475336.1_Frame_Shift_Del_p.TKDV1180fs|TNIK_ENST00000470834.1_Frame_Shift_Del_p.TKDV1235fs|TNIK_ENST00000460047.1_Frame_Shift_Del_p.TKDV1209fs|TNIK_ENST00000369326.5_Frame_Shift_Del_p.TKDV1250fs|TNIK_ENST00000357327.5_Frame_Shift_Del_p.TKDV1243fs	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1272	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTGGAGCACCACATCCTTAGTTATCCGGCC	0.448													14	122	---	---	---	---					
FLNC	2318	broad.mit.edu	37	7	128490905	128490907	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr7:128490905_128490907delACA	ENST00000325888.8	+	33	5708_5710	c.5447_5449delACA	c.(5446-5451)gac>g	p.DN1816del	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_In_Frame_Del_p.DN1783del	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1816					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AACATCACCGACAACAAGGACGG	0.596													27	73	---	---	---	---					
ARHGEF10	9639	broad.mit.edu	37	8	1905058	1905067	+	Frame_Shift_Del	DEL	GCACTTCCGA	GCACTTCCGA	-	rs145146038	byFrequency	TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr8:1905058_1905067delGCACTTCCGA	ENST00000518288.1	+	30	3899_3908	c.3736_3745delGCACTTCCGA	c.(3736-3747)gtfs	p.ALPS1246fs	ARHGEF10_ENST00000349830.3_Frame_Shift_Del_p.ALPS1222fs|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000262112.6_Frame_Shift_Del_p.ALPS1218fs|ARHGEF10_ENST00000520359.1_Frame_Shift_Del_p.ALPS1184fs|ARHGEF10_ENST00000398564.1_Frame_Shift_Del_p.ALPS1247fs			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1247					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	p.A999T(1)|p.A1247T(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCAGAAGGACGCACTTCCGAGTGGAGGAGC	0.590													15	70	---	---	---	---					
RANBP6	26953	broad.mit.edu	37	9	6012690	6012690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr9:6012690delT	ENST00000259569.5	-	1	2928	c.2918delA	c.(2917-2919)atfs	p.N973fs		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	973					protein transport	cytoplasm|nucleus	binding	p.N973fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AGCAATGACATTTTTTTTGGT	0.358													7	77	---	---	---	---					
ANKRD30A	91074	broad.mit.edu	37	10	37482137	37482137	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr10:37482137delT	ENST00000374660.1	+	33	2853	c.2754delT	c.(2752-2754)tcfs	p.S918fs	ANKRD30A_ENST00000602533.1_Frame_Shift_Del_p.S799fs|ANKRD30A_ENST00000361713.1_Frame_Shift_Del_p.S799fs			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	969						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGAAAGTTTCTATTCCAACTA	0.264													12	72	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754	byFrequency	TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cca>c	p.PPT469del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	469	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													4	4	---	---	---	---					
DNAH2	146754	broad.mit.edu	37	17	7734149	7734149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr17:7734149delT	ENST00000572933.1	+	79	13679	c.12219delT	c.(12217-12219)acfs	p.T4073fs	DNAH2_ENST00000389173.2_Frame_Shift_Del_p.T4073fs			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4073					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCTATCAACTCCCTTCCACC	0.567													13	21	---	---	---	---					
SERPINB2	5055	broad.mit.edu	37	18	61562580	61562581	+	Frame_Shift_Del	DEL	AG	AG	-	rs149564761	byFrequency	TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c9effa8-acb6-4db0-874a-8f0df386924c	2ce728de-2f14-4346-95a2-8bf90bb2cde8	g.chr18:61562580_61562581delAG	ENST00000457692.1	+	4	584_585	c.251_252delAG	c.(250-252)cfs	p.Q84fs	SERPINB2_ENST00000299502.4_Frame_Shift_Del_p.Q84fs|SERPINB2_ENST00000482254.1_3'UTR	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	84					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TTCATGCAGCAGATCCAGAAGG	0.431													14	229	---	---	---	---