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
PALB2	79728	broad.mit.edu	37	16	23641517	23641517	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr16:23641517C>A	ENST00000261584.4	-	5	2110	c.1958G>T	c.(1957-1959)tGt>tTt	p.C653F		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	653					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.C653F(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TGGAAAAATACAGCTTCCCTC	0.423000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					25	236					3.73988e-18	5.11529e-18	0.006320	1	0
MUC16	94025	broad.mit.edu	37	19	9076466	9076466	+	Silent	SNP	T	T	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr19:9076466T>C	ENST00000397910.4	-	3	11183	c.10980A>G	c.(10978-10980)gaA>gaG	p.E3660E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3661	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E3660E(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAATGTTCTTTCACTTGTAC	0.458000													8	119					0	0	0.004482	0	0
IGHM	3507	broad.mit.edu	37	14	106320571	106320571	+	RNA	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr14:106320571G>C	ENST00000390559.2	-	0	1238																											GGGCCACCACGCAGGTGTAGG	0.647000													12	55					0	0	0.010729	0	0
RYR1	6261	broad.mit.edu	37	19	39019689	39019689	+	Silent	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr19:39019689G>C	ENST00000355481.4	+	75	11249	c.11118G>C	c.(11116-11118)acG>acC	p.T3706T	RYR1_ENST00000359596.3_Silent_p.T3711T|RYR1_ENST00000360985.3_Silent_p.T3711T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3711					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.T3711T(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGCCCTGACGGAAAAGAGGT	0.632000													3	46					0	0	0.009096	0	0
DSC1	1823	broad.mit.edu	37	18	28714068	28714068	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr18:28714068C>T	ENST00000257197.3	-	13	2163	c.1902G>A	c.(1900-1902)cgG>cgA	p.R634R	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.R634R	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	634	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CAAGATTTTGCCGTTGACGAA	0.343000													4	97					0	0	0.009096	0	0
AKAP4	8852	broad.mit.edu	37	X	49958059	49958059	+	Silent	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:49958059T>A	ENST00000376056.2	-	5	1428	c.1278A>T	c.(1276-1278)atA>atT	p.I426I	AKAP4_ENST00000358526.2_Silent_p.I435I|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Silent_p.I426I			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	435					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	p.I435I(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TCTCCTCACCTATAAGGGCAC	0.453000													23	199					0	0	0.016522	0	0
RBM47	54502	broad.mit.edu	37	4	40434729	40434729	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr4:40434729G>A	ENST00000319592.4	-	5	1983	c.1274C>T	c.(1273-1275)gCc>gTc	p.A425V	RBM47_ENST00000514014.1_Missense_Mutation_p.A456V|RBM47_ENST00000295971.7_Missense_Mutation_p.A494V|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000381795.6_Missense_Mutation_p.A425V|RBM47_ENST00000381793.2_Missense_Mutation_p.A494V			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	494						nucleus	nucleotide binding|RNA binding	p.A425V(2)|p.A494V(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						tgcggccgcggctgcggcggc	0.577000													6	47					0	0	0.010729	0	0
DOCK2	1794	broad.mit.edu	37	5	169111325	169111325	+	Silent	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr5:169111325C>G	ENST00000256935.8	+	8	812	c.732C>G	c.(730-732)ctC>ctG	p.L244L		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	244					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.L244L(2)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATGTCTCTCTACGACCCCA	0.488000													19	211					0	0	0.006122	0	0
MTOR	2475	broad.mit.edu	37	1	11184600	11184600	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:11184600T>C	ENST00000361445.4	-	47	6693	c.6617A>G	c.(6616-6618)aAc>aGc	p.N2206S	MTOR_ENST00000376838.1_Missense_Mutation_p.N411S	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2206	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.N2206S(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CAGAAGGGTGTTAACCAGGCC	0.463000													11	89					0	0	0.008291	0	0
TNN	63923	broad.mit.edu	37	1	175116129	175116129	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:175116129C>G	ENST00000239462.4	+	19	3935	c.3822C>G	c.(3820-3822)atC>atG	p.I1274M		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1274	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.I1274M(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGTTGAAAATCCGCCCTCATG	0.527000											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	112					0	0	0.003080	0	0
TAF4	6874	broad.mit.edu	37	20	60587990	60587990	+	Splice_Site	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr20:60587990C>A	ENST00000252996.3	-	3	1521	c.1521_splice	c.e3-1	p.A508_splice		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	508					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.A508S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GTTCCAGGTGCCTGAAAAATA	0.478000													14	107					2.32078e-09	2.89879e-09	0.003163	1	0
CLCA1	1179	broad.mit.edu	37	1	86952236	86952236	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:86952236C>G	ENST00000234701.3	+	8	1333	c.982C>G	c.(982-984)Caa>Gaa	p.Q328E	CLCA1_ENST00000394711.1_Missense_Mutation_p.Q328E			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	328	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TCGACTGAATCAAGCAGGCCA	0.453000													3	132					0	0	0.004672	0	0
SYP	6855	broad.mit.edu	37	X	49047927	49047927	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:49047927C>G	ENST00000263233.4	-	6	981	c.909G>C	c.(907-909)caG>caC	p.Q303H	SYP_ENST00000479808.1_Missense_Mutation_p.Q303H|SYP_ENST00000538567.1_Missense_Mutation_p.Q185H	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	303	Repeats, Gly-rich.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity	p.Q303H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				TGGGTGCACCCTGCGGGCCGT	0.647000													4	39					0	0	0.014758	0	0
PSMD13	5719	broad.mit.edu	37	11	248958	248958	+	Silent	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr11:248958G>C	ENST00000532097.1	+	9	1179	c.675G>C	c.(673-675)ctG>ctC	p.L225L	PSMD13_ENST00000352303.5_Silent_p.L225L|PSMD13_ENST00000431206.2_Silent_p.L227L	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 13	225					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		TGGAGTCCCTGAGGAATACTG	0.542000													3	140					0	0	0.004672	0	0
TRPV3	162514	broad.mit.edu	37	17	3436156	3436156	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr17:3436156G>T	ENST00000301365.4	-	8	991	c.860C>A	c.(859-861)aCg>aAg	p.T287K	TRPV3_ENST00000576742.1_Missense_Mutation_p.T287K|TRPV3_ENST00000572519.1_Missense_Mutation_p.T287K			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	287						integral to membrane	calcium channel activity	p.T287K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GGTGATGTCCGTCTGCTCGTG	0.607000													13	80					5.50884e-06	6.22329e-06	0.013537	1	0
POTEF	728378	broad.mit.edu	37	2	130832530	130832530	+	Missense_Mutation	SNP	C	C	A	rs2599795		TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr2:130832530C>A	ENST00000357462.5	-	15	2608	c.2515G>T	c.(2515-2517)Gtg>Ttg	p.V839L	POTEF_ENST00000409914.2_Missense_Mutation_p.V839L			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	839	Actin-like.					cell cortex	ATP binding	p.V839L(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGGGACAGCACAGCCTGGATG	0.592000													11	147					3.27435e-08	3.92685e-08	0.002450	1	0
KIAA1210	57481	broad.mit.edu	37	X	118284472	118284472	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:118284472T>C	ENST00000402510.2	-	1	70	c.71A>G	c.(70-72)tAc>tGc	p.Y24C		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	24								p.Y24C(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GTGAGCCAGGTAGGGGTGCCG	0.602000													14	104					0	0	0.002450	0	0
SEMA3C	10512	broad.mit.edu	37	7	80418660	80418660	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr7:80418660G>T	ENST00000265361.3	-	12	1877	c.1316C>A	c.(1315-1317)gCt>gAt	p.A439D	SEMA3C_ENST00000419255.2_Missense_Mutation_p.A439D|SEMA3C_ENST00000544525.1_Missense_Mutation_p.A457D	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	439	Sema.				immune response|response to drug	membrane	receptor activity	p.A439D(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCCATCAGCAGCGTTCACTCG	0.393000													12	160					3.27435e-08	3.92685e-08	0.002450	1	0
ADAM12	8038	broad.mit.edu	37	10	127708376	127708376	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr10:127708376G>T	ENST00000368679.4	-	22	2866	c.2557C>A	c.(2557-2559)Ccc>Acc	p.P853T		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	853					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	p.P853T(2)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TTCTGAGGGGGGTTTGGCTTA	0.612000													8	54					2.74318e-10	3.51935e-10	0.006214	1	0
ADAMTS4	9507	broad.mit.edu	37	1	161163558	161163558	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:161163558C>T	ENST00000367996.4	-	6	2035	c.1607G>A	c.(1606-1608)tGt>tAt	p.C536Y		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	536	TSP type-1.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	p.C536Y(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ACCACCCCCACAGGTCCGAGA	0.632000													12	131					0	0	0.013537	0	0
OR52B6	340980	broad.mit.edu	37	11	5602592	5602592	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr11:5602592G>C	ENST00000345043.2	+	1	486	c.486G>C	c.(484-486)aaG>aaC	p.K162N	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATTGGGAAGATCGTCACTG	0.512000													4	372					0	0	0.009096	0	0
MED12	9968	broad.mit.edu	37	X	70340930	70340930	+	Silent	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:70340930C>A	ENST00000333646.6	+	5	862	c.663C>A	c.(661-663)ccC>ccA	p.P221P	MED12_ENST00000374080.3_Silent_p.P221P|MED12_ENST00000374102.1_Silent_p.P221P	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	221					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.P221P(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CGATAGGGCCCTTGCCCCATG	0.552000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						18	170					5.01169e-05	5.49295e-05	0.004990	1	0
TRGC2	6967	broad.mit.edu	37	7	38279515	38279515	+	RNA	SNP	G	G	A	rs150812430	by1000genomes	TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr7:38279515G>A	ENST00000436911.2	-	0	678																											GTACACACATGAGAACTGAAA	0.433000													5	12					0	0	0.001984	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174781003	174781003	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:174781003G>A	ENST00000489615.1	+	2	603	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000367687.1_Missense_Mutation_p.E75K|RABGAP1L_ENST00000251507.4_Missense_Mutation_p.E749K|RABGAP1L_ENST00000325589.5_Missense_Mutation_p.E56K|RABGAP1L_ENST00000347255.2_Missense_Mutation_p.E76K	NM_001243765.1	NP_001230694.1	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	749					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	p.E749K(1)|p.E76K(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GGCTGATTTTGAAGGTGCTTT	0.383000													4	52					0	0	0.009096	0	0
OR5L2	26338	broad.mit.edu	37	11	55595148	55595148	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr11:55595148G>T	ENST00000378397.1	+	1	454	c.454G>T	c.(454-456)Ggg>Tgg	p.G152W		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G152W(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTACTTCTGTGGGACGGTGTG	0.502000										HNSCC(27;0.073)			31	210					6.38683e-12	8.38905e-12	0.008361	1	0
INPP5D	3635	broad.mit.edu	37	2	234072375	234072375	+	Silent	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr2:234072375G>A	ENST00000359570.5	+	14	1227	c.1227G>A	c.(1225-1227)aaG>aaA	p.K409K	INPP5D_ENST00000538935.1_Silent_p.K408K|INPP5D_ENST00000455936.2_Silent_p.K173K|INPP5D_ENST00000450745.1_Silent_p.K173K			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	421					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	p.K421K(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CTCCCAAGAAGATCACGTCCT	0.537000													9	265					0	0	0.008291	0	0
TRPC3	7222	broad.mit.edu	37	4	122853827	122853827	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr4:122853827T>A	ENST00000264811.5	-	1	785	c.367A>T	c.(367-369)Aac>Tac	p.N123Y	TRPC3_ENST00000513531.1_Missense_Mutation_p.N123Y|TRPC3_ENST00000379645.3_Missense_Mutation_p.N196Y	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	111					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	p.N123Y(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCAGGGTGGTTGAGGATGGCC	0.642000													5	63					0	0	0.014758	0	0
NXF5	55998	broad.mit.edu	37	X	101092628	101092628	+	Splice_Site	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:101092628T>A	ENST00000537026.1	-	15	1279		c.e15-2		NXF5_ENST00000361708.2_Splice_Site|NXF5_ENST00000473265.2_Splice_Site	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5						mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.?(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TCTGCAGGTCTATAGAGAAGA	0.532000													29	178					0	0	0.006320	0	0
KIF4B	285643	broad.mit.edu	37	5	154397003	154397003	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr5:154397003C>T	ENST00000435029.4	+	1	3744	c.3584C>T	c.(3583-3585)tCg>tTg	p.S1195L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1195	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.S1195L(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCCCAGAGTCGAAACATGGA	0.512000													8	65					0	0	0.003080	0	0
PJA1	64219	broad.mit.edu	37	X	68381829	68381829	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:68381829C>A	ENST00000361478.1	-	2	1630	c.1253G>T	c.(1252-1254)gGc>gTc	p.G418V	PJA1_ENST00000374571.4_Missense_Mutation_p.G363V|PJA1_ENST00000374583.1_Missense_Mutation_p.G418V|PJA1_ENST00000374584.3_Missense_Mutation_p.G230V	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	418							zinc ion binding	p.G418V(1)|p.G230V(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						AGCACCGGGGCCAGGGCTGGT	0.622000													15	139					6.94344e-10	8.83954e-10	0.006122	1	0
CATSPERG	57828	broad.mit.edu	37	19	38853047	38853047	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr19:38853047G>A	ENST00000409235.3	+	19	2304	c.2189G>A	c.(2188-2190)cGa>cAa	p.R730Q	AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.R690Q	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	730					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.R370Q(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						AGCAATTGGCGAAGCGCGGGC	0.632000													5	122					0	0	0.001168	0	0
EXPH5	23086	broad.mit.edu	37	11	108381132	108381132	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr11:108381132T>A	ENST00000265843.4	-	6	5212	c.5102A>T	c.(5101-5103)aAt>aTt	p.N1701I	EXPH5_ENST00000443411.1_Missense_Mutation_p.N1513I|EXPH5_ENST00000525344.1_Missense_Mutation_p.N1694I|EXPH5_ENST00000428840.1_Missense_Mutation_p.N1625I	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1701					intracellular protein transport		Rab GTPase binding	p.N1701I(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTTAAACTCATTCTGATGTCG	0.433000													35	289					0	0	0.013726	0	0
COL25A1	84570	broad.mit.edu	37	4	109841756	109841756	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr4:109841756G>A	ENST00000399132.1	-	12	1243	c.713C>T	c.(712-714)cCt>cTt	p.P238L	COL25A1_ENST00000399126.1_Missense_Mutation_p.P238L|COL25A1_ENST00000399127.1_Missense_Mutation_p.P234L	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	238	Collagen-like 2.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.P238L(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AGGCCCTAGAGGACCCTAAAA	0.358000													10	63					0	0	0.008291	0	0
CCNG1	900	broad.mit.edu	37	5	162866386	162866386	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr5:162866386G>A	ENST00000340828.2	+	2	348	c.124G>A	c.(124-126)Gat>Aat	p.D42N	CCNG1_ENST00000511683.2_Intron|CCNG1_ENST00000393929.1_Missense_Mutation_p.D42N|CCNG1_ENST00000512163.1_Intron|CCNG1_ENST00000510664.1_Intron	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	42					cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus		p.D42N(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		GTCTGCACACGATAATGGCCT	0.433000													6	123					0	0	0.001984	0	0
TOPORS	10210	broad.mit.edu	37	9	32541658	32541658	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr9:32541658T>C	ENST00000360538.2	-	3	2981	c.2865A>G	c.(2863-2865)atA>atG	p.I955M	TOPORS_ENST00000379858.1_Missense_Mutation_p.I890M	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	955					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	p.I955M(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ATTCAGCTTCTATTGTAACTA	0.383000													24	198					0	0	0.016522	0	0
NAGA	4668	broad.mit.edu	37	22	42461775	42461775	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr22:42461775C>T	ENST00000396398.3	-	6	1258	c.726G>A	c.(724-726)gtG>gtA	p.V242V	NAGA_ENST00000403363.1_Silent_p.V242V|NAGA_ENST00000402937.1_Silent_p.V242V	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	242					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	p.V242V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CAGGGCCGGCCACTGGCTGCA	0.602000													6	58					0	0	0.001984	0	0
ZNF800	168850	broad.mit.edu	37	7	127014855	127014855	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr7:127014855T>A	ENST00000393313.1	-	5	1126	c.535A>T	c.(535-537)Aaa>Taa	p.K179*	ZNF800_ENST00000393312.1_Nonsense_Mutation_p.K179*|ZNF800_ENST00000265827.3_Nonsense_Mutation_p.K179*			Q2TB10	ZN800_HUMAN	zinc finger protein 800	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K179*(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GGTACTGTTTTTGACTGTTCA	0.423000													14	112					0	0	0.003163	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802747	185802747	+	Nonsense_Mutation	SNP	T	T	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr2:185802747T>G	ENST00000302277.6	+	4	3218	c.2624T>G	c.(2623-2625)tTa>tGa	p.L875*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	875						intracellular	zinc ion binding	p.L875*(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACAAACCAATTAAGAAACAAA	0.358000													20	108					0	0	0.010504	0	0
OSBPL11	114885	broad.mit.edu	37	3	125279288	125279288	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr3:125279288C>T	ENST00000296220.5	-	8	1379	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	364					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CGTTGTTCTTCTACAGCTCCC	0.418000													4	182					0	0	0.009096	0	0
KCNA1	3736	broad.mit.edu	37	12	5021622	5021622	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr12:5021622C>T	ENST00000382545.3	+	2	2185	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	360					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.P360S(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTCCAGTATCCCCGATGCTTT	0.537000													36	334					0	0	0.006999	0	0
MTAP	4507	broad.mit.edu	37	9	21837988	21837988	+	Silent	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr9:21837988G>A	ENST00000380172.4	+	5	635	c.429G>A	c.(427-429)ccG>ccA	p.P143P	MTAP_ENST00000460874.2_Silent_p.P160P|MTAP_ENST00000580900.1_Silent_p.P143P|RP11-145E5.5_ENST00000404796.2_Intron	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN	methylthioadenosine phosphorylase	143					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	p.0(1)|p.0?(1)|p.P143P(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	TGGCTGAGCCGTTTTGCCCCA	0.458000													38	277					0	0	0.006999	0	0
ABLIM3	22885	broad.mit.edu	37	5	148617109	148617109	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr5:148617109T>A	ENST00000506113.1	+	10	1469	c.987T>A	c.(985-987)taT>taA	p.Y329*	ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000326685.7_Intron|ABLIM3_ENST00000356541.3_Intron|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000519549.1_3'UTR|RP11-331K21.1_ENST00000512647.2_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000309868.7_Nonsense_Mutation_p.Y329*|ABLIM3_ENST00000508983.1_Nonsense_Mutation_p.Y329*			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	329					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	p.Y329*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATTTCCTATGAGCCTCATT	0.493000													40	148					0	0	0.007835	0	0
TRPV5	56302	broad.mit.edu	37	7	142605804	142605804	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr7:142605804G>T	ENST00000265310.1	-	15	2414	c.2066C>A	c.(2065-2067)tCc>tAc	p.S689Y		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	689					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.S689Y(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CGCGGTCCGGGACAGGGAGGA	0.577000													10	123					3.86212e-05	4.26121e-05	0.008291	1	0
PHLPP1	23239	broad.mit.edu	37	18	60646292	60646292	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr18:60646292C>T	ENST00000400316.4	+	17	5027	c.3246C>T	c.(3244-3246)ggC>ggT	p.G1082G	PHLPP1_ENST00000262719.5_Silent_p.G1594G	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1594					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	p.G1594G(2)|p.G1081G(1)		endometrium(2)|kidney(2)|lung(13)	17						GTGATGAGGGCATTGTCATCA	0.627000													10	30					0	0	0.008291	0	0
DCAF11	80344	broad.mit.edu	37	14	24586142	24586142	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr14:24586142G>T	ENST00000446197.3	+	3	899	c.172G>T	c.(172-174)Gtg>Ttg	p.V58L	DCAF11_ENST00000560171.1_Intron|DCAF11_ENST00000396941.4_Intron|DCAF11_ENST00000396936.1_5'UTR|DCAF11_ENST00000559115.1_Missense_Mutation_p.V58L	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	58						CUL4 RING ubiquitin ligase complex	protein binding	p.V58L(1)									AGTGAGGTTGGTGCAGGGAGG	0.498000													20	177					2.94398e-08	3.55642e-08	0.007413	1	0
FAAH	2166	broad.mit.edu	37	1	46871349	46871349	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:46871349C>T	ENST00000243167.8	+	5	752	c.668C>T	c.(667-669)gCc>gTc	p.A223V	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	223					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	p.A223V(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GGTGAAGGGGCCCTCATCGGG	0.642000													30	222					0	0	0.008361	0	0
SUSD5	26032	broad.mit.edu	37	3	33216515	33216515	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr3:33216515C>T	ENST00000309558.3	-	4	878	c.461G>A	c.(460-462)cGc>cAc	p.R154H		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	154	Sushi.				cell adhesion	integral to membrane	hyaluronic acid binding	p.R154H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAAGCCGGTGCGGCCCTGCAG	0.567000													7	61					0	0	0.001984	0	0
OR5M11	219487	broad.mit.edu	37	11	56310155	56310155	+	Silent	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr11:56310155G>C	ENST00000528616.2	-	1	602	c.579C>G	c.(577-579)gtC>gtG	p.V193V		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V193V(1)|p.V194V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CATGCTCTTTGACATAAGTAT	0.502000													5	45					0	0	0.001168	0	0
MTOR	2475	broad.mit.edu	37	1	11291433	11291433	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:11291433T>C	ENST00000361445.4	-	17	2649	c.2573A>G	c.(2572-2574)tAc>tGc	p.Y858C		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	858					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.Y858C(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GTACTTCCTGTAGGGCTCTAC	0.527000													30	209					0	0	0.007291	0	0
USH1G	124590	broad.mit.edu	37	17	72915997	72915997	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr17:72915997G>T	ENST00000319642.1	-	2	1116	c.934C>A	c.(934-936)Ctg>Atg	p.L312M		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	312					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		p.L312M(1)	HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					ATGGTGCCCAGGCCGGGGCGG	0.697000													14	210					4.14922e-12	5.47168e-12	0.004007	1	0
TAZ	6901	broad.mit.edu	37	X	153641823	153641823	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:153641823C>A	ENST00000299328.5	+	4	578	c.289C>A	c.(289-291)Cct>Act	p.P97T	TAZ_ENST00000369776.4_Missense_Mutation_p.P72T|TAZ_ENST00000350743.4_Missense_Mutation_p.P97T|TAZ_ENST00000351413.4_Missense_Mutation_p.P97T|TAZ_ENST00000369790.4_Missense_Mutation_p.P97T	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	97					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity	p.P97T(1)		lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTTAGGACCCCTGCAGCTGC	0.622000													10	149					7.03913e-09	8.66153e-09	0.013537	1	0
ENSA	2029	broad.mit.edu	37	1	150599975	150599975	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:150599975A>C	ENST00000271690.8	-	2	257	c.151T>G	c.(151-153)Tcc>Gcc	p.S51A	ENSA_ENST00000356527.5_Missense_Mutation_p.S51A|ENSA_ENST00000503241.1_Missense_Mutation_p.S51A|ENSA_ENST00000503345.1_Missense_Mutation_p.S51A|ENSA_ENST00000362052.7_Missense_Mutation_p.S51A|ENSA_ENST00000339643.5_Missense_Mutation_p.S51A|ENSA_ENST00000513281.1_Missense_Mutation_p.S47A|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000369009.3_Missense_Mutation_p.S51A|ENSA_ENST00000369014.5_Missense_Mutation_p.S51A|ENSA_ENST00000361631.5_Missense_Mutation_p.S47A|ENSA_ENST00000369016.4_Missense_Mutation_p.S51A|ENSA_ENST00000361532.5_Missense_Mutation_p.S47A	NM_207044.1	NP_996927.1	O43768	ENSA_HUMAN	endosulfine alpha	51					cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding	p.S51A(2)|p.S47A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGGAAGTCGGAGCCTCCAGGC	0.493000													13	117					0	0	0.016723	0	0
RASAL2	9462	broad.mit.edu	37	1	178421569	178421569	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:178421569G>C	ENST00000448150.3	+	11	2555	c.1737G>C	c.(1735-1737)ttG>ttC	p.L579F	RASAL2_ENST00000462775.1_Missense_Mutation_p.L449F|RASAL2_ENST00000367649.3_Missense_Mutation_p.L597F	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	449					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CTCGTGAGTTGAAAGAAGTGT	0.458000													3	141					0	0	0.004672	0	0
LPAR4	2846	broad.mit.edu	37	X	78010375	78010375	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:78010375C>A	ENST00000435339.2	+	2	414	c.9C>A	c.(7-9)gaC>gaA	p.D3E	LPAR4_ENST00000373301.2_Missense_Mutation_p.D3E|RP11-475D8.1_ENST00000514744.1_RNA	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	3						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.D3E(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CCATGGGTGACAGAAGATTCA	0.448000													11	81					3.86212e-05	4.26121e-05	0.008291	1	0
C7	730	broad.mit.edu	37	5	40931182	40931182	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr5:40931182A>G	ENST00000313164.9	+	3	438	c.79A>G	c.(79-81)Aac>Gac	p.N27D		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	27	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.N27D(1)					Ovarian(839;0.0112)				CTCTCCAGTCAACTGCCAGTG	0.433000													4	44					0	0	0.014758	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42796705	42796705	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr6:42796705C>T	ENST00000314073.5	+	6	810	c.634C>T	c.(634-636)Caa>Taa	p.Q212*	GLTSCR1L_ENST00000394168.1_Nonsense_Mutation_p.Q212*					GLTSCR1-like									p.Q212*(1)									TGGTTCTGGTCAAATACAGTT	0.418000													30	273					0	0	0.008361	0	0
ZBED4	9889	broad.mit.edu	37	22	50277426	50277426	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr22:50277426G>C	ENST00000216268.4	+	2	593	c.116G>C	c.(115-117)aGa>aCa	p.R39T		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	39						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	p.R39T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGTTTGGAAAGAATGGACTTT	0.493000													10	312					0	0	0.010729	0	0
TOB2	10766	broad.mit.edu	37	22	41832839	41832839	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr22:41832839C>A	ENST00000327492.3	-	2	1217	c.511G>T	c.(511-513)Gct>Tct	p.A171S		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	171					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus		p.A171S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						ATGGGCTGAGCGGAGCGGGGA	0.622000													12	139					1.5842e-08	1.92783e-08	0.016723	1	0
OR5D16	390144	broad.mit.edu	37	11	55607016	55607016	+	Silent	SNP	A	A	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr11:55607016A>G	ENST00000378396.1	+	1	789	c.789A>G	c.(787-789)gtA>gtG	p.V263V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V263V(1)		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)				TCTACTGTGTACCCAACTCCA	0.522000													11	76					0	0	0.010729	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255900	140255900	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr5:140255900C>T	ENST00000398631.2	+	1	843	c.843C>T	c.(841-843)atC>atT	p.I281I	PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.I281I(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTATGGGATCAAAATGATTT	0.358000													9	297					0	0	0.006214	0	0
PCNXL4	64430	broad.mit.edu	37	14	60574777	60574777	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr14:60574777G>C	ENST00000406854.1	+	2	975	c.421G>C	c.(421-423)Gtt>Ctt	p.V141L	PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000404681.2_Missense_Mutation_p.V141L|PCNXL4_ENST00000391611.2_Missense_Mutation_p.V141L					pecanex-like 4 (Drosophila)									p.V141L(1)									AGCCAATACAGTTTTTCATTC	0.428000													5	53					0	0	0.014758	0	0
FUZ	80199	broad.mit.edu	37	19	50314903	50314903	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr19:50314903C>T	ENST00000313777.4	-	4	535	c.372G>A	c.(370-372)ctG>ctA	p.L124L	FUZ_ENST00000533418.1_Silent_p.L74L|FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000526575.1_3'UTR|FUZ_ENST00000528094.1_Silent_p.L88L|FUZ_ENST00000445575.2_Silent_p.L124L	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	124					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		p.L124L(1)		endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		AGTCCTTCTTCAGTCTCTCCA	0.537000													45	859					0	0	0.014410	0	0
PNN	5411	broad.mit.edu	37	14	39650414	39650414	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr14:39650414C>T	ENST00000216832.4	+	9	1568	c.1501C>T	c.(1501-1503)Cag>Tag	p.Q501*	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	501	Gln-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GCCTCCCTCTCAGCCTGAGGA	0.537000													4	160					0	0	0.009096	0	0
MRE11A	4361	broad.mit.edu	37	11	94209498	94209498	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr11:94209498C>A	ENST00000323929.3	-	7	838	c.616G>T	c.(616-618)Gat>Tat	p.D206Y	MRE11A_ENST00000323977.3_Missense_Mutation_p.D206Y|MRE11A_ENST00000540013.1_Missense_Mutation_p.D206Y|MRE11A_ENST00000393241.4_Missense_Mutation_p.D206Y|MRE11A_ENST00000407439.3_Missense_Mutation_p.D209Y	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	206					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	p.D206Y(2)		breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				GAGTTCTCATCTTCCTTTGGT	0.338000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				7	74					1.26484e-09	1.59795e-09	0.003080	1	0
MSR1	4481	broad.mit.edu	37	8	16032786	16032786	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr8:16032786G>T	ENST00000350896.3	-	3	324	c.127C>A	c.(127-129)Caa>Aaa	p.Q43K	MSR1_ENST00000262101.5_Missense_Mutation_p.Q43K|MSR1_ENST00000355282.2_Missense_Mutation_p.Q43K|MSR1_ENST00000381998.4_Missense_Mutation_p.Q43K|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000445506.2_Missense_Mutation_p.Q61K	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	43					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.Q43K(2)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AGTTTCTCTTGAAGGGAAGGG	0.398000													4	49					0.00024832	0.000265142	0.009096	1	0
PRDM2	7799	broad.mit.edu	37	1	14105012	14105012	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:14105012C>A	ENST00000235372.7	+	8	1578	c.722C>A	c.(721-723)aCc>aAc	p.T241N	PRDM2_ENST00000413440.1_Missense_Mutation_p.T40N|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.T241N|PRDM2_ENST00000343137.4_Missense_Mutation_p.T40N|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	241						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T241N(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAACTAGCAACCCCTGCCCCT	0.597000													10	133					1.3612e-06	1.58091e-06	0.003163	1	0
KCNJ3	3760	broad.mit.edu	37	2	155566153	155566153	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr2:155566153C>T	ENST00000295101.2	+	2	1218	c.741C>T	c.(739-741)gaC>gaT	p.D247D	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_Intron	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	247					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.D247D(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TTCCCCTTGACCAACTTGAAC	0.468000													7	69					0	0	0.001984	0	0
UBAP2	55833	broad.mit.edu	37	9	33948372	33948372	+	Splice_Site	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr9:33948372C>A	ENST00000379238.1	-	13	1387	c.1270_splice	c.e13+1	p.D424_splice	UBAP2_ENST00000449054.1_Splice_Site_p.D424_splice|UBAP2_ENST00000418786.2_Splice_Site_p.D371_splice|UBAP2_ENST00000360802.1_Splice_Site_p.D424_splice|UBAP2_ENST00000379239.4_Splice_Site_p.D157_splice|UBAP2_ENST00000539807.1_Splice_Site_p.D179_splice|UBAP2_ENST00000379225.1_Splice_Site_p.D57_splice			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	424								p.D424Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GTATACCTACCAAGATGACTG	0.473000													21	166					2.37509e-13	3.16998e-13	0.010504	1	0
GPRC6A	222545	broad.mit.edu	37	6	117130667	117130667	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr6:117130667C>A	ENST00000310357.3	-	2	329	c.308G>T	c.(307-309)tGt>tTt	p.C103F	GPRC6A_ENST00000368549.3_Missense_Mutation_p.C103F|GPRC6A_ENST00000530250.1_Missense_Mutation_p.C103F	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	103					response to amino acid stimulus		G-protein coupled receptor activity	p.C103F(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GACTTCTGTACAAGTGTCATA	0.413000													4	28					0.00909568	0.00940834	0.009096	1	0
CDH10	1008	broad.mit.edu	37	5	24487847	24487847	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr5:24487847G>C	ENST00000264463.4	-	12	2799	c.2292C>G	c.(2290-2292)taC>taG	p.Y764*	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	764					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y764*(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATTCTCGGAGGTAATCGTAGT	0.418000										HNSCC(23;0.051)			53	185					0	0	0.014410	0	0
FER1L6	654463	broad.mit.edu	37	8	125061956	125061956	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr8:125061956C>G	ENST00000522917.1	+	22	3039	c.2833C>G	c.(2833-2835)Ctc>Gtc	p.L945V	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.L945V|FER1L6-AS2_ENST00000601180.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	945						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTGTGGGAATCTCTCTGGAGG	0.522000													3	185					0	0	0.004672	0	0
MAP7	9053	broad.mit.edu	37	6	136710623	136710623	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr6:136710623C>G	ENST00000354570.3	-	4	687	c.277G>C	c.(277-279)Gag>Cag	p.E93Q	MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000454590.1_Missense_Mutation_p.E115Q|MAP7_ENST00000544465.1_Missense_Mutation_p.E78Q|MAP7_ENST00000438100.2_Missense_Mutation_p.E115Q	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	93					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	p.E93Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTGGCTCGCTCTTCTCTTTCT	0.488000													5	164					0	0	0.001168	0	0
CELF1	10658	broad.mit.edu	37	11	47510459	47510459	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr11:47510459G>C	ENST00000395290.2	-	1	117	c.108C>G	c.(106-108)ttC>ttG	p.F36L	CELF1_ENST00000395292.2_Missense_Mutation_p.F36L|CELF1_ENST00000361904.3_Missense_Mutation_p.F36L|CELF1_ENST00000358597.3_Missense_Mutation_p.F36L|CELF1_ENST00000310513.5_Missense_Mutation_p.F36L|CELF1_ENST00000532048.1_Missense_Mutation_p.F63L|CELF1_ENST00000531165.1_Missense_Mutation_p.F63L	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	36	RRM 1.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	p.F36L(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CATACTGTTCGAAGAGTTCCC	0.493000													17	179					0	0	0.004990	0	0
PSG4	5672	broad.mit.edu	37	19	43708039	43708039	+	Splice_Site	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr19:43708039G>T	ENST00000405312.3	-	2	666	c.430_splice	c.e2+1	p.H143_splice	PSG4_ENST00000244295.9_Splice_Site_p.H143_splice|PSG4_ENST00000433626.2_Splice_Site_p.H143_splice	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	143	Ig-like V-type.				defense response|female pregnancy	extracellular region		p.H143Q(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ATCACTCACGGTGTAAGGTGA	0.527000													57	316					1.16596e-39	1.64226e-39	0.014410	1	0
MYH13	8735	broad.mit.edu	37	17	10209847	10209847	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr17:10209847G>T	ENST00000418404.3	-	36	5558	c.5395C>A	c.(5395-5397)Cac>Aac	p.H1799N	MYH13_ENST00000570743.1_Missense_Mutation_p.H1799N|MYH13_ENST00000252172.4_Missense_Mutation_p.H1799N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1799					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.H1799N(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTAGACGGTGCTGCAGGTCC	0.557000													33	264					2.47316e-13	3.28761e-13	0.015359	1	0
FAM135B	51059	broad.mit.edu	37	8	139153491	139153491	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr8:139153491G>C	ENST00000395297.1	-	17	3910	c.3740C>G	c.(3739-3741)tCt>tGt	p.S1247C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1247								p.S1247C(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTGAGGCCCAGAGAGTGACAG	0.512000										HNSCC(54;0.14)			4	111					0	0	0.014758	0	0
TTC39B	158219	broad.mit.edu	37	9	15192686	15192686	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr9:15192686G>C	ENST00000355694.2	-	9	868	c.634C>G	c.(634-636)Ctt>Gtt	p.L212V	TTC39B_ENST00000297615.5_Missense_Mutation_p.L209V|TTC39B_ENST00000380850.4_Missense_Mutation_p.L278V|TTC39B_ENST00000507993.1_Missense_Mutation_p.L113V|TTC39B_ENST00000507285.1_Missense_Mutation_p.L113V|TTC39B_ENST00000512701.1_Missense_Mutation_p.L278V|TTC39B_ENST00000541445.1_Missense_Mutation_p.S190C	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	212							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						AGGATAGAAAGACATTCTCTG	0.348000													3	80					0	0	0.014758	0	0
TSPYL4	23270	broad.mit.edu	37	6	116574053	116574053	+	Silent	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr6:116574053G>A	ENST00000420283.1	-	1	1208	c.1119C>T	c.(1117-1119)atC>atT	p.I373I		NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	373					nucleosome assembly	nucleus		p.I373I(1)		endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		GTTCTCCTTTGATAATCTCTG	0.507000													5	17					0	0	0.014758	0	0
BHLHE40	8553	broad.mit.edu	37	3	5024760	5024760	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr3:5024760C>G	ENST00000256495.3	+	5	1225	c.622C>G	c.(622-624)Ccg>Gcg	p.P208A		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	208						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						ACCCAGCTCTCCGGCCAAAGG	0.607000													5	89					0	0	0.014758	0	0
POU2F1	5451	broad.mit.edu	37	1	167367290	167367290	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:167367290G>C	ENST00000367862.5	+	11	1391	c.1156G>C	c.(1156-1158)Gag>Cag	p.E386Q	POU2F1_ENST00000420254.3_Missense_Mutation_p.E374Q|POU2F1_ENST00000367866.2_Missense_Mutation_p.E397Q|POU2F1_ENST00000541643.3_Missense_Mutation_p.E374Q|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.E334Q	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	374					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TCCAGGAATTGAGGGCTTGAG	0.458000													3	82					0	0	0.004672	0	0
LRP1B	53353	broad.mit.edu	37	2	141260575	141260575	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr2:141260575G>T	ENST00000389484.3	-	54	9590	c.8619C>A	c.(8617-8619)gaC>gaA	p.D2873E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2873	LDL-receptor class A 19.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D2873_H2874>EN(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATCAGAATGGTCAGGACAGT	0.388000										TSP Lung(27;0.18)			6	56					0.00116845	0.0012278	0.001168	1	0
TRIM33	51592	broad.mit.edu	37	1	114969875	114969875	+	Silent	SNP	A	A	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:114969875A>G	ENST00000358465.2	-	8	1427	c.1344T>C	c.(1342-1344)gaT>gaC	p.D448D	TRIM33_ENST00000369543.2_Silent_p.D448D|TRIM33_ENST00000450349.2_Silent_p.D56D	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	448					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	p.D448D(1)		breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGGGACAGGATCACACCGTG	0.358000			T	RET	papillary thyroid								7	108					0	0	0.001984	0	0
SPANXN5	494197	broad.mit.edu	37	X	52825631	52825631	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:52825631C>T	ENST00000375511.3	-	2	868	c.116G>A	c.(115-117)aGt>aAt	p.S39N		NM_001009616.2	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	39								p.S39N(1)		large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					CTTTTTCAAACTCGGTTCGAG	0.393000													15	165					0	0	0.003163	0	0
CNOT2	4848	broad.mit.edu	37	12	70747665	70747665	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr12:70747665C>T	ENST00000551483.1	+	7	4701	c.546C>T	c.(544-546)ttC>ttT	p.F182F	CNOT2_ENST00000418359.3_Silent_p.F531F|CNOT2_ENST00000229195.3_Silent_p.F531F			Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	531					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	p.F531F(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CATCCACCTTCAACTACAACC	0.368000													6	81					0	0	0.001168	0	0
OR2A14	135941	broad.mit.edu	37	7	143826479	143826479	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr7:143826479T>A	ENST00000408899.2	+	1	329	c.274T>A	c.(274-276)Tcc>Acc	p.S92T		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S92T(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AAGCACCATCTCCTTTTTTCC	0.438000													52	476					0	0	0.014410	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186925385	186925385	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:186925385G>C	ENST00000367466.3	+	14	1640	c.1488G>C	c.(1486-1488)ttG>ttC	p.L496F	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.L436F	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	496	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TGCTGGGCTTGAATCTCAATA	0.443000													4	214					0	0	0.009096	0	0
FBN2	2201	broad.mit.edu	37	5	127614468	127614468	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr5:127614468G>T	ENST00000508053.1	-	63	8178	c.7204C>A	c.(7204-7206)Cgc>Agc	p.R2402S	FBN2_ENST00000262464.4_Missense_Mutation_p.R2402S			P35556	FBN2_HUMAN	fibrillin 2	2402	TB 9.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.R2402S(2)|p.R2402C(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACGAGATTGCGACTACTGGAT	0.507000													4	66					0.00909568	0.00940834	0.009096	1	0
PKD1L2	114780	broad.mit.edu	37	16	81236248	81236248	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr16:81236248G>A	ENST00000599697.1	-	6	999	c.1000C>T	c.(1000-1002)Cag>Tag	p.Q334*	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	334					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACCTGCCTCTGAGCTGTCACA	0.587000													4	58					0	0	0.014758	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858749	149858749	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:149858749G>C	ENST00000331380.2	+	1	225	c.225G>C	c.(223-225)aaG>aaC	p.K75N		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	75					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGGACAACAAGAAGACGCGCA	0.667000													3	108					0	0	0.004672	0	0
ZNF667	63934	broad.mit.edu	37	19	56952614	56952614	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr19:56952614C>G	ENST00000504904.3	-	7	2469	c.1750G>C	c.(1750-1752)Gaa>Caa	p.E584Q	ZNF667_ENST00000342634.3_Missense_Mutation_p.E712Q|ZNF667_ENST00000292069.6_Missense_Mutation_p.E584Q|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E584Q(1)		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)		TTACTACATTCATAGGGTTTC	0.393000													10	162					0	0	0.008291	0	0
ZNF407	55628	broad.mit.edu	37	18	72775242	72775242	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr18:72775242G>T	ENST00000299687.5	+	8	5565	c.5565G>T	c.(5563-5565)agG>agT	p.R1855S		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1855					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R1855S(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCAGCAGGAGGCCAGCGCCGC	0.672000													21	156					3.6726e-16	5.0026e-16	0.003954	1	0
DARS2	55157	broad.mit.edu	37	1	173822600	173822600	+	Silent	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:173822600C>G	ENST00000361951.4	+	14	2185	c.1458C>G	c.(1456-1458)ctC>ctG	p.L486L	DARS2_ENST00000239457.5_Silent_p.L68L|DARS2_ENST00000471476.1_3'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	486					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	p.L486L(1)		breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	ATTTCCCACTCTTCCTGCCCA	0.522000													21	153					0	0	0.008871	0	0
MBTPS2	51360	broad.mit.edu	37	X	21887672	21887672	+	Silent	SNP	A	A	G	rs144578691	byFrequency	TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:21887672A>G	ENST00000365779.2	+	7	927	c.846A>G	c.(844-846)ctA>ctG	p.L282L	MBTPS2_ENST00000379484.5_Silent_p.L282L			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	282					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	p.L282L(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						TCACCCATCTACAGGATTGTC	0.433000													11	153					0	0	0.010729	0	0
JPH1	56704	broad.mit.edu	37	8	75227505	75227505	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr8:75227505C>T	ENST00000342232.4	-	2	770	c.730G>A	c.(730-732)Gcc>Acc	p.A244T		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	244	Ser-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CTGCTCATGGCCGCGTCGCTG	0.562000													4	152					0	0	0.009096	0	0
MPRIP	23164	broad.mit.edu	37	17	17053516	17053516	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr17:17053516C>G	ENST00000395811.5	+	12	1423	c.1334C>G	c.(1333-1335)cCa>cGa	p.P445R	MPRIP_ENST00000341712.4_Missense_Mutation_p.P445R|MPRIP_ENST00000395804.3_Missense_Mutation_p.P445R|MPRIP_ENST00000444976.1_Missense_Mutation_p.P407R	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	445	PH 2.					cytoplasm|cytoskeleton	actin binding	p.P445R(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						ACAGAGTATCCAGTTCAGAGA	0.493000													5	204					0	0	0.014758	0	0
SEC24D	9871	broad.mit.edu	37	4	119745815	119745815	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr4:119745815C>A	ENST00000379735.5	-	3	479	c.208G>T	c.(208-210)Ggt>Tgt	p.G70C	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.G70C	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	70	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	p.G70C(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CCATTCTGACCAAACTGATGG	0.527000													22	290					8.10497e-08	9.685e-08	0.010504	1	0
DST	667	broad.mit.edu	37	6	56382331	56382331	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr6:56382331C>G	ENST00000370754.5	-	70	18123	c.18124G>C	c.(18124-18126)Gac>Cac	p.D6042H	DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.D3776H|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.D3667H|DST_ENST00000361203.3_Missense_Mutation_p.D5753H|DST_ENST00000370769.4_Missense_Mutation_p.D5864H|DST_ENST00000446842.2_Missense_Mutation_p.D5538H|DST_ENST00000244364.6_Missense_Mutation_p.D3450H			Q03001	DYST_HUMAN	dystonin	5862					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.D3450H(1)|p.D5864H(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAAGTCTGGTCTTGCTCAAGC	0.388000													3	22					0	0	0.004672	0	0
PLEC	5339	broad.mit.edu	37	8	144991151	144991151	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr8:144991151C>T	ENST00000322810.4	-	32	13418	c.13249G>A	c.(13249-13251)Gtg>Atg	p.V4417M	PLEC_ENST00000354958.2_Missense_Mutation_p.V4258M|PLEC_ENST00000398774.2_Missense_Mutation_p.V4248M|PLEC_ENST00000436759.2_Missense_Mutation_p.V4307M|PLEC_ENST00000345136.3_Missense_Mutation_p.V4280M|PLEC_ENST00000357649.2_Missense_Mutation_p.V4284M|PLEC_ENST00000356346.3_Missense_Mutation_p.V4266M|PLEC_ENST00000354589.3_Missense_Mutation_p.V4280M|PLEC_ENST00000527096.1_Missense_Mutation_p.V4303M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4417	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.V4307M(1)|p.V4280M(1)|p.V4417M(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATGCCAGCCACGGGGCCCGTC	0.662000													15	58					0	0	0.007413	0	0
SYT9	143425	broad.mit.edu	37	11	7335004	7335004	+	Silent	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr11:7335004G>T	ENST00000318881.6	+	3	1113	c.876G>T	c.(874-876)ccG>ccT	p.P292P	SYT9_ENST00000396716.2_Silent_p.P260P	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	292	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.P292P(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TTTTATTTCCGGTTCCCTACA	0.438000													41	311					1.15183e-24	1.60868e-24	0.009718	1	0
EIF4G3	8672	broad.mit.edu	37	1	21268737	21268737	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:21268737C>A	ENST00000536266.1	-	0	244				EIF4G3_ENST00000374937.3_Missense_Mutation_p.G254C|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000264211.8_Missense_Mutation_p.G248C|EIF4G3_ENST00000356916.3_Missense_Mutation_p.G259C|EIF4G3_ENST00000400422.1_Missense_Mutation_p.G248C|EIF4G3_ENST00000374927.4_Missense_Mutation_p.G248C|EIF4G3_ENST00000602326.1_Missense_Mutation_p.G254C			O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3						interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	p.G254C(1)|p.G248C(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GATGTCTGGCCTTCTTGTTCT	0.463000													13	118					2.61681e-11	3.39673e-11	0.002450	1	0
ETV6	2120	broad.mit.edu	37	12	12038881	12038881	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr12:12038881G>A	ENST00000396373.4	+	7	1448	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	392						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E392K(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CATGACCTATGAGAAAATGTC	0.438000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								11	155					0	0	0.010729	0	0
CMTR2	55783	broad.mit.edu	37	16	71318373	71318373	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr16:71318373C>G	ENST00000338099.5	-	3	1787	c.1451G>C	c.(1450-1452)gGa>gCa	p.G484A	FTSJD1_ENST00000434935.2_Missense_Mutation_p.G484A			Q8IYT2	FTSJ1_HUMAN		484						integral to membrane	methyltransferase activity|nucleic acid binding	p.G484A(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGAAGCTGTTCCTTCTAAAAT	0.373000													14	107					0	0	0.003163	0	0
SLC4A7	9497	broad.mit.edu	37	3	27462219	27462219	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr3:27462219C>A	ENST00000295736.5	-	10	1527	c.1457G>T	c.(1456-1458)cGa>cTa	p.R486L	SLC4A7_ENST00000388777.4_Missense_Mutation_p.R36L|SLC4A7_ENST00000437179.1_Missense_Mutation_p.R367L|SLC4A7_ENST00000425128.2_Missense_Mutation_p.R478L|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R478L|SLC4A7_ENST00000454389.1_Missense_Mutation_p.R495L|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R482L|SLC4A7_ENST00000455077.1_Missense_Mutation_p.R367L|SLC4A7_ENST00000435667.2_Missense_Mutation_p.R371L|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R362L|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R482L	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	486						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.R486L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GGCTATTGATCGTCCAATTTC	0.348000													7	53					1.12685e-05	1.25585e-05	0.004482	1	0
LILRA2	11027	broad.mit.edu	37	19	55086420	55086420	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr19:55086420C>T	ENST00000251377.3	+	5	708	c.575C>T	c.(574-576)tCg>tTg	p.S192L	LILRA2_ENST00000251376.3_Missense_Mutation_p.S192L|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S180L|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.S192L|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.S192L(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CGCAGGTGGTCGTACAGGTGC	0.572000													21	183					0	0	0.008871	0	0
SEMA5A	9037	broad.mit.edu	37	5	9066574	9066574	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr5:9066574C>A	ENST00000382496.5	-	17	2923	c.2258G>T	c.(2257-2259)cGg>cTg	p.R753L		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	753	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.R753L(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGAACAGTACCGCATTTCGAT	0.537000													39	211					6.31075e-24	8.77672e-24	0.014410	1	0
CACNA2D1	781	broad.mit.edu	37	7	81626548	81626548	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr7:81626548G>T	ENST00000356860.3	-	19	1947	c.1609C>A	c.(1609-1611)Cca>Aca	p.P537T	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.P556T	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	556	Cache.					voltage-gated calcium channel complex	metal ion binding	p.P537T(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AATGTTACTGGCTCCTGAGAT	0.358000													8	72					1.12685e-05	1.25585e-05	0.004482	1	0
ZNF135	7694	broad.mit.edu	37	19	58578646	58578646	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr19:58578646C>A	ENST00000506786.1	+	5	1222	c.668C>A	c.(667-669)aCt>aAt	p.T223N	ZNF135_ENST00000313434.5_Missense_Mutation_p.T265N|ZNF135_ENST00000439855.2_Missense_Mutation_p.T265N|ZNF135_ENST00000359978.6_Missense_Mutation_p.T277N|ZNF135_ENST00000401053.4_Missense_Mutation_p.T289N|ZNF135_ENST00000511556.1_Missense_Mutation_p.T277N			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	277					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.T289N(1)|p.T265N(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGAATCCATACTGGGGAGAAA	0.512000													27	187					7.92952e-12	1.03334e-11	0.003954	1	0
TTLL2	83887	broad.mit.edu	37	6	167753646	167753646	+	Silent	SNP	G	G	T	rs150930685		TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr6:167753646G>T	ENST00000239587.5	+	3	346	c.258G>T	c.(256-258)ccG>ccT	p.P86P		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	86	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.P86P(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TCTTGAAGCCGCTGGTTTTTC	0.512000													17	93					7.45023e-12	9.74713e-12	0.010504	1	0
RBBP5	5929	broad.mit.edu	37	1	205065903	205065903	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:205065903C>A	ENST00000264515.6	-	12	1444	c.1303G>T	c.(1303-1305)Gag>Tag	p.E435*	RBBP5_ENST00000367164.1_Nonsense_Mutation_p.E435*	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	435					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	p.E435*(1)		cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTCTTCTTCTCTGAACTAGCC	0.493000													30	262					3.90053e-15	5.26969e-15	0.012213	1	0
PSG4	5672	broad.mit.edu	37	19	43708174	43708174	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr19:43708174T>A	ENST00000405312.3	-	2	531	c.294A>T	c.(292-294)agA>agT	p.R98S	PSG4_ENST00000244295.9_Missense_Mutation_p.R98S|PSG4_ENST00000433626.2_Missense_Mutation_p.R98S	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	98	Ig-like V-type.				defense response|female pregnancy	extracellular region		p.R98S(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ATACTCTTTCTCTTCCACTGT	0.433000													40	492					0	0	0.007835	0	0
FEZF1	389549	broad.mit.edu	37	7	121942174	121942174	+	Silent	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr7:121942174G>A	ENST00000442488.2	-	4	1372	c.1305C>T	c.(1303-1305)ggC>ggT	p.G435G	FEZF1_ENST00000331178.4_Silent_p.G431G|FEZF1_ENST00000427185.2_Silent_p.G385G	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	435	Pro-rich.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G431G(1)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TGCCTGGTTCGCCAGCTGGCG	0.706000													8	73					0	0	0.013537	0	0
ZC3H13	23091	broad.mit.edu	37	13	46539475	46539475	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr13:46539475C>T	ENST00000242848.4	-	16	4759	c.4411G>A	c.(4411-4413)Gaa>Aaa	p.E1471K	ZC3H13_ENST00000282007.3_Missense_Mutation_p.E1472K|ZC3H13_ENST00000378921.2_Missense_Mutation_p.E427K			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1471							nucleic acid binding|zinc ion binding	p.E1472K(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GCCAGAATTTCATCTAGTTCG	0.443000													12	216					0	0	0.002450	0	0
INSC	387755	broad.mit.edu	37	11	15197341	15197341	+	Silent	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr11:15197341C>G	ENST00000379554.3	+	3	298	c.252C>G	c.(250-252)ctC>ctG	p.L84L	INSC_ENST00000424273.1_Silent_p.L37L|INSC_ENST00000530161.1_Silent_p.L37L|INSC_ENST00000379556.3_Silent_p.L37L|INSC_ENST00000528567.1_Silent_p.L37L|INSC_ENST00000525218.1_Silent_p.L37L	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	84					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ATCTGAAGCTCATGACCGAGT	0.572000													3	88					0	0	0.009096	0	0
SETX	23064	broad.mit.edu	37	9	135205014	135205014	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr9:135205014C>T	ENST00000372169.2	-	10	2153	c.1971G>A	c.(1969-1971)ttG>ttA	p.L657L	SETX_ENST00000224140.5_Silent_p.L657L|SETX_ENST00000393220.1_Silent_p.L657L			Q7Z333	SETX_HUMAN	senataxin	657				L -> S (in Ref. 2; CAD98045).	cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.L657L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTGCTTTGATCAATACACTGT	0.378000													5	92					0	0	0.014758	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95111393	95111393	+	RNA	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr14:95111393G>A	ENST00000469935.1	+	0	1213					NR_015340.1																						TCCCTGGGCAGCCTGGACTGA	0.498000													10	36					0	0	0.008291	0	0
HMBS	3145	broad.mit.edu	37	11	118960719	118960719	+	Missense_Mutation	SNP	G	G	A	rs143984293		TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr11:118960719G>A	ENST00000537841.1	+	7	604	c.313G>A	c.(313-315)Gct>Act	p.A105T	HMBS_ENST00000392841.1_Missense_Mutation_p.A105T|HMBS_ENST00000544387.1_Missense_Mutation_p.A122T|HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000543090.1_Missense_Mutation_p.A104T|HMBS_ENST00000542729.1_Missense_Mutation_p.A105T|HMBS_ENST00000278715.3_Missense_Mutation_p.A122T|HMBS_ENST00000442944.2_Missense_Mutation_p.A105T			P08397	HEM3_HUMAN	hydroxymethylbilane synthase	122					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity	p.A122T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CCCTCATGATGCTGTTGTCTT	0.517000													15	164					0	0	0.004990	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	65					0	0	0.004672	0	0
PRDX4	10549	broad.mit.edu	37	X	23685884	23685884	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:23685884G>T	ENST00000379341.4	+	1	322	c.197G>T	c.(196-198)cGg>cTg	p.R66L	PRDX4_ENST00000379331.3_Missense_Mutation_p.R66L|PRDX4_ENST00000495599.1_3'UTR	NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	66					cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity	p.R66L(2)		lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GAGGCATCCCGGGTATCGGTC	0.642000													8	90					7.48243e-07	8.75153e-07	0.006214	1	0
TSNAXIP1	55815	broad.mit.edu	37	16	67860420	67860420	+	Silent	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr16:67860420C>G	ENST00000388833.3	+	11	1571	c.1194C>G	c.(1192-1194)gtC>gtG	p.V398V	TSNAXIP1_ENST00000415766.3_Silent_p.V383V|TSNAXIP1_ENST00000561639.1_Silent_p.V452V	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	398					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		p.V398V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		AGGACGTGGTCAACCTCCTCA	0.552000													7	115					0	0	0.001984	0	0
LCT	3938	broad.mit.edu	37	2	136552261	136552261	+	Silent	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr2:136552261G>C	ENST00000264162.2	-	14	5071	c.5061C>G	c.(5059-5061)ctC>ctG	p.L1687L		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1687	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.L1687L(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGTTGTAGGCGAGGACAGTGG	0.507000													8	177					0	0	0.004482	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43827054	43827054	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr15:43827054C>G	ENST00000420765.1	-	31	4302	c.4120G>C	c.(4120-4122)Gag>Cag	p.E1374Q	PPIP5K1_ENST00000381879.4_Missense_Mutation_p.E1350Q|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.E1349Q|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.E1370Q|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.E1349Q|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.E1347Q|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.E1347Q|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.E1374Q	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1374					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.E1374L(1)		large_intestine(1)	1						TCAGGGATCTCTTCAGCTGGG	0.552000													6	148					0	0	0.001168	0	0
NEK1	4750	broad.mit.edu	37	4	170321765	170321765	+	Silent	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr4:170321765G>A	ENST00000439128.2	-	32	4177	c.3537C>T	c.(3535-3537)tgC>tgT	p.C1179C	NEK1_ENST00000507142.1_Silent_p.C1207C|NEK1_ENST00000511633.1_Silent_p.C1163C|NEK1_ENST00000510533.1_Silent_p.C1135C|NEK1_ENST00000512193.1_Silent_p.C1110C	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1179					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.C1207C(4)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AGACACTATCGCATTCACATT	0.318000													3	12					0	0	0.004672	0	0
FLI1	2313	broad.mit.edu	37	11	128680783	128680783	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr11:128680783C>T	ENST00000344954.6	+	9	1548	c.1160C>T	c.(1159-1161)tCa>tTa	p.S387L	FLI1_ENST00000281428.8_Missense_Mutation_p.S354L|FLI1_ENST00000534087.1_Missense_Mutation_p.S387L|FLI1_ENST00000525560.1_Missense_Mutation_p.S227L|FLI1_ENST00000429175.2_Missense_Mutation_p.S420L			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	420					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S420L(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GGAGCCGCATCACAATACTGG	0.572000			T	EWSR1	Ewing sarcoma								5	93					0	0	0.001984	0	0
ARRB2	409	broad.mit.edu	37	17	4621908	4621908	+	Splice_Site	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr17:4621908G>A	ENST00000269260.2	+	10	941	c.706_splice	c.e10-1	p.V236_splice	ARRB2_ENST00000381488.6_Splice_Site_p.V221_splice|ARRB2_ENST00000571206.1_Splice_Site_p.V44_splice|ARRB2_ENST00000572457.1_Splice_Site_p.V44_splice|ARRB2_ENST00000575877.1_Splice_Site_p.V236_splice|ARRB2_ENST00000574954.1_Splice_Site_p.V44_splice|ARRB2_ENST00000346341.2_Splice_Site_p.V221_splice|ARRB2_ENST00000412477.3_Splice_Site_p.V257_splice	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	236					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	p.V236V(1)		large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						ACCCCACAGTGAGACAGTACG	0.612000													14	222					0	0	0.004990	0	0
BCHE	590	broad.mit.edu	37	3	165547424	165547424	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr3:165547424A>T	ENST00000264381.3	-	2	1564	c.1398T>A	c.(1396-1398)caT>caA	p.H466Q	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	466					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.H466Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TTTCATAGCCATGCATCACTC	0.408000													12	122					0	0	0.002450	0	0
TM9SF1	10548	broad.mit.edu	37	14	24682634	24682634	+	Silent	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr14:24682634G>C	ENST00000530611.1	-	1	45	c.12C>G	c.(10-12)ctC>ctG	p.L4L	AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000556387.1_Silent_p.L4L|CHMP4A_ENST00000347519.6_Silent_p.L47L			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	0					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		p.L47L(1)		NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		AGAGCCTGCCGAGACCACTCA	0.682000													11	79					0	0	0.016723	0	0
ACVR2B	93	broad.mit.edu	37	3	38524628	38524628	+	Splice_Site	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr3:38524628G>T	ENST00000352511.3	+	11	1816		c.e11-1			NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB						activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	p.?(1)		lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		ATGCTGCTTAGGGCCTGGCCC	0.557000													39	416					4.4882e-36	6.29489e-36	0.009718	1	0
AKAP4	8852	broad.mit.edu	37	X	49958061	49958061	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:49958061T>A	ENST00000376056.2	-	5	1426	c.1276A>T	c.(1276-1278)Ata>Tta	p.I426L	AKAP4_ENST00000358526.2_Missense_Mutation_p.I435L|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.I426L			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	435					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	p.I435L(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TCCTCACCTATAAGGGCACTG	0.453000													23	200					0	0	0.016522	0	0
SRPX2	27286	broad.mit.edu	37	X	99917179	99917179	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:99917179G>A	ENST00000373004.3	+	4	598	c.170G>A	c.(169-171)cGa>cAa	p.R57Q		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	57					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	p.R57Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						ACAGTCCCCCGATGGTGTTAT	0.443000													9	114					0	0	0.008291	0	0
DNAH3	55567	broad.mit.edu	37	16	21061251	21061251	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr16:21061251C>T	ENST00000261383.3	-	30	4326	c.4327G>A	c.(4327-4329)Gcc>Acc	p.A1443T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1443T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1443	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A1443T(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAGGCTTTGGCCAAATCTTTG	0.542000													25	193					0	0	0.007291	0	0
EMR1	2015	broad.mit.edu	37	19	6928183	6928183	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr19:6928183C>T	ENST00000312053.4	+	17	2287	c.2250C>T	c.(2248-2250)ttC>ttT	p.F750F	EMR1_ENST00000450315.3_Silent_p.F573F|EMR1_ENST00000381404.4_Silent_p.F698F|EMR1_ENST00000381407.5_Silent_p.F609F|EMR1_ENST00000250572.8_Silent_p.F685F	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	750					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.F750F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AGACAGGGTTCATCTGGAGTT	0.498000													22	284					0	0	0.012319	0	0
MAP3K4	4216	broad.mit.edu	37	6	161508851	161508851	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr6:161508851C>T	ENST00000392142.4	+	10	2836	c.2688C>T	c.(2686-2688)ctC>ctT	p.L896L	MAP3K4_ENST00000366919.2_Silent_p.L896L|MAP3K4_ENST00000366920.2_Silent_p.L896L|MAP3K4_ENST00000348824.7_Silent_p.L896L	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	896					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.L896L(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ATGACGTACTCATCGATGCCT	0.502000													25	92					0	0	0.007291	0	0
OXER1	165140	broad.mit.edu	37	2	42990262	42990262	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr2:42990262A>T	ENST00000378661.2	-	1	1139	c.1058T>A	c.(1057-1059)gTg>gAg	p.V353E		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	353					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	p.V353E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						GCAGTAGAGCACGGGGTCCAG	0.652000													9	80					0	0	0.004482	0	0
CASP5	838	broad.mit.edu	37	11	104872881	104872881	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr11:104872881G>A	ENST00000393139.2	-	4	551	c.382C>T	c.(382-384)Cat>Tat	p.H128Y	CASP5_ENST00000444749.2_Silent_p.I139I|CASP5_ENST00000531367.1_Silent_p.I55I|CASP5_ENST00000418434.1_Silent_p.I55I|CASP5_ENST00000393141.2_Silent_p.I210I|CASP5_ENST00000260315.3_Silent_p.I197I|CASP5_ENST00000526056.1_Silent_p.I210I			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	0	CARD.				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	p.I181I(1)|p.I210I(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TATTGCATATGATGAGAGCCA	0.488000													20	169					0	0	0.010504	0	0
SENP3	26168	broad.mit.edu	37	17	7474715	7474715	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr17:7474715C>T	ENST00000321337.7	+	12	1956	c.1636C>T	c.(1636-1638)Cag>Tag	p.Q546*	SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000578868.1_3'UTR|SENP3_ENST00000429205.2_Nonsense_Mutation_p.Q547*	NM_015670.5	NP_056485.2	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	547					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity	p.Q547*(1)		central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				GGCCCTGTCTCAGCCATTCAG	0.527000													4	62					0	0	0.014758	0	0
SCNN1B	6338	broad.mit.edu	37	16	23382700	23382700	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr16:23382700C>G	ENST00000343070.2	+	6	1137	c.961C>G	c.(961-963)Cac>Gac	p.H321D	SCNN1B_ENST00000307331.5_Missense_Mutation_p.H366D|SCNN1B_ENST00000568923.1_Missense_Mutation_p.H294D|SCNN1B_ENST00000568085.1_Missense_Mutation_p.H321D	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	321					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	p.H321D(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GCTGATGCTTCACGAGCAGAG	0.607000													7	59					0	0	0.004482	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967217	106967217	+	RNA	SNP	T	T	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr14:106967217T>C	ENST00000390622.2	-	0	486																											CAAGCCCTTGTCCAGGGGCCT	0.552000													11	104					0	0	0.004007	0	0
A4GNT	51146	broad.mit.edu	37	3	137843388	137843388	+	Silent	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr3:137843388G>C	ENST00000236709.3	-	3	942	c.741C>G	c.(739-741)ctC>ctG	p.L247L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	247					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TCAGACACCTGAGGTCGCTCA	0.483000													3	123					0	0	0.004672	0	0
ASXL2	55252	broad.mit.edu	37	2	25967042	25967042	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr2:25967042C>T	ENST00000435504.4	-	13	2457	c.2164G>A	c.(2164-2166)Gaa>Aaa	p.E722K	ASXL2_ENST00000272341.4_Missense_Mutation_p.E462K|ASXL2_ENST00000336112.4_Missense_Mutation_p.E694K|ASXL2_ENST00000404843.1_Missense_Mutation_p.E462K			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	722	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.E462K(1)|p.E722K(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCCAGTTTCACTGACTCTG	0.597000													7	271					0	0	0.001984	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21811336	21811336	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr14:21811336T>C	ENST00000206660.6	+	21	3481	c.3481T>C	c.(3481-3483)Tcc>Ccc	p.S1161P	RPGRIP1_ENST00000400017.2_Missense_Mutation_p.S1161P|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.S487P|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.S1123P|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.S818P|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.S520P			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	1161	Interaction with RPGR.				response to stimulus|visual perception	cilium		p.S1161P(1)|p.S777P(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GACTCCAGTGTCCCTAAGGAA	0.483000													9	123					0	0	0.006214	0	0
LIMCH1	22998	broad.mit.edu	37	4	41652437	41652437	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr4:41652437G>C	ENST00000313860.7	+	13	1747	c.1693G>C	c.(1693-1695)Gag>Cag	p.E565Q	LIMCH1_ENST00000514096.1_Missense_Mutation_p.E406Q|LIMCH1_ENST00000396595.3_Missense_Mutation_p.E411Q|LIMCH1_ENST00000381753.4_Missense_Mutation_p.E399Q|LIMCH1_ENST00000512632.1_Missense_Mutation_p.E565Q|LIMCH1_ENST00000512820.1_Missense_Mutation_p.E553Q|LIMCH1_ENST00000508501.1_Missense_Mutation_p.E565Q|LIMCH1_ENST00000513024.1_Missense_Mutation_p.E394Q|LIMCH1_ENST00000503057.1_Missense_Mutation_p.E950Q|LIMCH1_ENST00000509277.1_Missense_Mutation_p.E399Q|LIMCH1_ENST00000512946.1_Missense_Mutation_p.E565Q|LIMCH1_ENST00000511496.1_Missense_Mutation_p.E406Q	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	565					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TGTGAATGGAGAGACGGTTCA	0.458000													3	79					0	0	0.009096	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049328	42049328	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:42049328G>C	ENST00000372584.1	-	3	2155	c.1141C>G	c.(1141-1143)Ctg>Gtg	p.L381V	HIVEP3_ENST00000372583.1_Missense_Mutation_p.L381V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.L381V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.L381V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	381	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCTGGGCTCAGAAACGCCTGC	0.567000													4	171					0	0	0.009096	0	0
BPIFB2	80341	broad.mit.edu	37	20	31607499	31607499	+	Silent	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr20:31607499G>T	ENST00000170150.3	+	11	1218	c.1023G>T	c.(1021-1023)gtG>gtT	p.V341V		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	341						extracellular region	lipid binding	p.V341V(1)									AGCCCTTCGTGGAGGTCCTGG	0.642000													6	31					1.06961e-07	1.26897e-07	0.003080	1	0
CCL4L2	388372	broad.mit.edu	37	17	34641448	34641448	+	Splice_Site	SNP	A	A	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr17:34641448A>G	ENST00000394465.2	+	3	508		c.e3-1		CCL4L2_ENST00000339270.6_Splice_Site|TBC1D3H_ENST00000535446.1_Intron|TBC1D3C_ENST00000308078.7_Intron|CCL4L2_ENST00000482104.1_3'UTR|TBC1D3H_ENST00000400684.4_Intron|TBC1D3C_ENST00000451448.2_Intron			Q8NHW4	CC4L_HUMAN	chemokine (C-C motif) ligand 4-like 2						chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity	p.?(1)		endometrium(1)	1		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTGTTCTACAGATTCCAAAC	0.522000													3	87					0	0	0.004672	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43827053	43827053	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr15:43827053T>A	ENST00000420765.1	-	31	4303	c.4121A>T	c.(4120-4122)gAg>gTg	p.E1374V	PPIP5K1_ENST00000381879.4_Missense_Mutation_p.E1350V|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.E1349V|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.E1370V|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.E1349V|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.E1347V|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.E1347V|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.E1374V	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1374					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.E1374L(1)		large_intestine(1)	1						CTCAGGGATCTCTTCAGCTGG	0.552000													6	149					0	0	0.001168	0	0
CCDC181	57821	broad.mit.edu	37	1	169388313	169388313	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:169388313C>G	ENST00000545005.1	-	5	1660	c.1153G>C	c.(1153-1155)Gag>Cag	p.E385Q	CCDC181_ENST00000367806.3_Missense_Mutation_p.E385Q|CCDC181_ENST00000367805.3_Missense_Mutation_p.E385Q|CCDC181_ENST00000491570.1_5'UTR					coiled-coil domain containing 181									p.E385Q(1)									AAGACCTGCTCTCTTTTCTTT	0.338000													6	83					0	0	0.001984	0	0
GJA10	84694	broad.mit.edu	37	6	90605301	90605301	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr6:90605301A>C	ENST00000369352.1	+	1	1114	c.1114A>C	c.(1114-1116)Act>Cct	p.T372P		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	372					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.T372P(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GCTAGGTACAACTACGGCTCC	0.532000													23	157					0	0	0.018920	0	0
ANO10	55129	broad.mit.edu	37	3	43474152	43474152	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr3:43474152A>T	ENST00000292246.3	-	12	2035	c.1865T>A	c.(1864-1866)aTg>aAg	p.M622K	ANO10_ENST00000396091.3_Missense_Mutation_p.M556K|ANO10_ENST00000350459.4_Missense_Mutation_p.M432K|ANO10_ENST00000451430.2_Missense_Mutation_p.M511K|ANO10_ENST00000414522.2_Intron	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	622					cell death	chloride channel complex	chloride channel activity	p.M622K(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						GGCTAGTTTCATCTGGATATG	0.428000													7	103					0	0	0.003080	0	0
RYR1	6261	broad.mit.edu	37	19	38976304	38976304	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr19:38976304G>A	ENST00000355481.4	+	34	5140	c.5009G>A	c.(5008-5010)cGc>cAc	p.R1670H	RYR1_ENST00000359596.3_Missense_Mutation_p.R1670H|RYR1_ENST00000360985.3_Missense_Mutation_p.R1670H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1670	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R1670H(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGCCTCTACCGCGCTGTGTGC	0.662000													17	83					0	0	0.008871	0	0
IGSF1	3547	broad.mit.edu	37	X	130408770	130408770	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:130408770C>A	ENST00000370904.1	-	24	4437	c.3527G>T	c.(3526-3528)gGa>gTa	p.G1176V	IGSF1_ENST00000370910.1_Missense_Mutation_p.G1176V|IGSF1_ENST00000361420.3_Missense_Mutation_p.G1185V|IGSF1_ENST00000370903.3_Missense_Mutation_p.G1190V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1185	Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.G1185V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGGCAGGGGTCCTCGGCACTG	0.507000													43	416					3.61848e-18	4.96978e-18	0.007835	1	0
TSHZ3	57616	broad.mit.edu	37	19	31768037	31768037	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr19:31768037C>T	ENST00000240587.4	-	2	2989	c.2662G>A	c.(2662-2664)Gcc>Acc	p.A888T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	888					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	p.A888T(1)|p.A705T(1)		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)					CTCTTCTGGGCGGGCGTCGAC	0.617000													7	47					0	0	0.004482	0	0
SERAC1	84947	broad.mit.edu	37	6	158571596	158571596	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr6:158571596C>G	ENST00000367102.2	-	4	295	c.154G>C	c.(154-156)Gtt>Ctt	p.V52L	SERAC1_ENST00000607000.1_Missense_Mutation_p.V52L|SERAC1_ENST00000367101.1_Missense_Mutation_p.V52L|SERAC1_ENST00000367104.3_Missense_Mutation_p.V52L			Q96JX3	SRAC1_HUMAN	serine active site containing 1	52					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AGGGCCAGAACTTCATATGTA	0.328000													4	88					0	0	0.014758	0	0
HAUS3	79441	broad.mit.edu	37	4	2233854	2233854	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr4:2233854G>C	ENST00000243706.4	-	5	1841	c.1612C>G	c.(1612-1614)Caa>Gaa	p.Q538E	POLN_ENST00000515357.1_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.Q538E|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	538					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		p.Q538E(1)		breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TTATTCAGTTGAGATTCAACT	0.254000													7	30					0	0	0.001984	0	0
TRPS1	7227	broad.mit.edu	37	8	116599248	116599248	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr8:116599248C>T	ENST00000395715.3	-	5	3257	c.2680G>A	c.(2680-2682)Gaa>Aaa	p.E894K	TRPS1_ENST00000520276.1_Missense_Mutation_p.E885K|TRPS1_ENST00000220888.5_Missense_Mutation_p.E881K|TRPS1_ENST00000519076.1_Missense_Mutation_p.E635K|TRPS1_ENST00000519674.1_Missense_Mutation_p.E881K	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	881			V -> D (in TRPS3; in heterozygous status has a milder effect causing TRPS1).		negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E881K(1)|p.E894K(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GACTGGGATTCATCCTTGGAC	0.498000									Langer-Giedion syndrome				8	131					0	0	0.003080	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17942588	17942588	+	Splice_Site	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:17942588G>C	ENST00000361221.3	+	9	885		c.e9-1		ARHGEF10L_ENST00000434513.1_Splice_Site|ARHGEF10L_ENST00000375420.3_Splice_Site|ARHGEF10L_ENST00000375415.1_Splice_Site|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Splice_Site	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like						regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.?(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCTTTGCTCAGATGACCCAGC	0.627000													8	238					0	0	0.004482	0	0
FCRL6	343413	broad.mit.edu	37	1	159779333	159779333	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:159779333G>A	ENST00000321935.6	+	6	853	c.767G>A	c.(766-768)gGg>gAg	p.G256E	FCRL6_ENST00000368106.3_Missense_Mutation_p.G249E|FCRL6_ENST00000392235.3_Missense_Mutation_p.G154E|FCRL6_ENST00000339348.5_Missense_Mutation_p.G249E			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	249	Ig-like C2-type 3.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AAGATTGTGGGGAACCACTCA	0.577000													4	111					0	0	0.009096	0	0
PTK7	5754	broad.mit.edu	37	6	43114421	43114421	+	Silent	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr6:43114421C>G	ENST00000230419.4	+	17	2927	c.2706C>G	c.(2704-2706)ctC>ctG	p.L902L	PTK7_ENST00000481273.1_Silent_p.L910L|PTK7_ENST00000352931.2_Silent_p.L846L|PTK7_ENST00000349241.2_Silent_p.L772L|PTK7_ENST00000345201.2_Silent_p.L862L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	902	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L902L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CACAGCCCCTCAGCACCAAGC	0.557000													3	103					0	0	0.004672	0	0
OR10H5	284433	broad.mit.edu	37	19	15904894	15904894	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr19:15904894C>T	ENST00000308940.8	+	1	134	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F12F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TGTCTGAATTCATCCTCGTTG	0.572000													12	302					0	0	0.003163	0	0
IRAK1	3654	broad.mit.edu	37	X	153284086	153284086	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:153284086C>T	ENST00000369980.3	-	5	860	c.693G>A	c.(691-693)atG>atA	p.M231I	IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000369974.2_Missense_Mutation_p.M231I|IRAK1_ENST00000393682.1_Missense_Mutation_p.M257I|IRAK1_ENST00000429936.2_Missense_Mutation_p.M257I|IRAK1_ENST00000393687.2_Missense_Mutation_p.M231I	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	231	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGTGTTCCTCATCACCGCCC	0.602000													10	547					0	0	0.008291	0	0
DST	667	broad.mit.edu	37	6	56468068	56468068	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr6:56468068A>T	ENST00000370754.5	-	41	10992	c.10993T>A	c.(10993-10995)Tct>Act	p.S3665T	DST_ENST00000312431.6_Missense_Mutation_p.S3487T|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.S3487T|DST_ENST00000370769.4_Missense_Mutation_p.S3487T|DST_ENST00000446842.2_Missense_Mutation_p.S3161T|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	3487					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGAGGGAAGAGAAGGCGGTC	0.418000													4	18					0	0	0.009096	0	0
ALKBH4	54784	broad.mit.edu	37	7	102100065	102100065	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr7:102100065C>G	ENST00000292566.3	-	2	346	c.307G>C	c.(307-309)Gga>Cga	p.G103R		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	103						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.G103R(1)		kidney(1)|lung(5)|skin(2)	8						TTCCTCCGTCCAGACTGGGAG	0.642000													11	245					0	0	0.013537	0	0
ZNF438	220929	broad.mit.edu	37	10	31134418	31134418	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr10:31134418C>A	ENST00000538351.1	-	8	2566	c.1812G>T	c.(1810-1812)caG>caT	p.Q604H	ZNF438_ENST00000436087.2_Missense_Mutation_p.Q653H|ZNF438_ENST00000375311.1_Missense_Mutation_p.Q217H|ZNF438_ENST00000361310.3_Missense_Mutation_p.Q653H|ZNF438_ENST00000331737.6_Missense_Mutation_p.Q643H|ZNF438_ENST00000444692.2_Missense_Mutation_p.Q643H|ZNF438_ENST00000413025.1_Missense_Mutation_p.Q653H|ZNF438_ENST00000442986.1_Missense_Mutation_p.Q653H|ZNF438_ENST00000452305.1_Missense_Mutation_p.Q643H	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	653					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q653H(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GAGCAGTAATCTGACAACGAC	0.418000													17	199					6.94344e-10	8.83954e-10	0.006122	1	0
ARF3	377	broad.mit.edu	37	12	49334843	49334843	+	Silent	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr12:49334843C>G	ENST00000256682.4	-	2	370	c.36G>C	c.(34-36)ctG>ctC	p.L12L	ARF3_ENST00000541959.1_Silent_p.L12L|ARF3_ENST00000398092.4_Silent_p.L12L|ARF3_ENST00000447318.2_Silent_p.L12L	NM_001659.2	NP_001650.1	P61204	ARF3_HUMAN	ADP-ribosylation factor 3	12					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity			endometrium(1)|lung(2)|skin(1)	4						TCTTCCCAATCAGGCTCTTGA	0.547000													4	375					0	0	0.009096	0	0
RHOD	29984	broad.mit.edu	37	11	66834240	66834240	+	Silent	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr11:66834240G>T	ENST00000308831.2	+	3	337	c.252G>T	c.(250-252)ctG>ctT	p.L84L	RHOD_ENST00000533360.1_Silent_p.L84L|RHOD_ENST00000532559.1_Intron	NM_014578.3	NP_055393.1	O00212	RHOD_HUMAN	ras homolog family member D	84					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	p.L84L(1)		lung(3)	3						TGCGGCCCCTGTTCTACCCTG	0.612000													27	240					6.05902e-23	8.39136e-23	0.017118	1	0
NLRP4	147945	broad.mit.edu	37	19	56382295	56382295	+	Silent	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr19:56382295G>T	ENST00000301295.6	+	7	2879	c.2457G>T	c.(2455-2457)ctG>ctT	p.L819L	NLRP4_ENST00000346986.5_Silent_p.L763L|NLRP4_ENST00000587891.1_Silent_p.L744L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	819							ATP binding	p.L819L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCAATGTCCTGAAGGACGAAG	0.507000													18	124					1.45105e-14	1.94453e-14	0.006122	1	0
NKD1	85407	broad.mit.edu	37	16	50642215	50642215	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr16:50642215G>A	ENST00000268459.3	+	4	427	c.203G>A	c.(202-204)gGc>gAc	p.G68D	NKD1_ENST00000564336.1_3'UTR|RP11-401P9.6_ENST00000379963.1_RNA	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	68					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	p.G68D(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GAGCTCGTGGGCGACGTGTTG	0.597000													22	203					0	0	0.018920	0	0
FAM83G	644815	broad.mit.edu	37	17	18881012	18881012	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr17:18881012C>T	ENST00000388995.6	-	5	2190	c.1967G>A	c.(1966-1968)cGa>cAa	p.R656Q	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R656Q|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.R656Q			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	656								p.R656Q(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						AAAGGTCCCTCGGGTTATATG	0.647000													8	75					0	0	0.010729	0	0
OLFML2B	25903	broad.mit.edu	37	1	161969907	161969907	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:161969907C>T	ENST00000294794.3	-	5	1368	c.945G>A	c.(943-945)gaG>gaA	p.E315E	OLFML2B_ENST00000367940.2_Silent_p.E316E	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	315								p.E315E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ACTCACGCTGCTCTTCAATGT	0.592000													12	152					0	0	0.003163	0	0
CCDC8	83987	broad.mit.edu	37	19	46915990	46915990	+	Silent	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr19:46915990G>C	ENST00000307522.3	-	1	851	c.78C>G	c.(76-78)gtC>gtG	p.V26V		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	26						plasma membrane		p.V26V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		gcttagagatgactctccaga	0.637000													5	86					0	0	0.014758	0	0
AMER1	139285	broad.mit.edu	37	X	63412785	63412785	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:63412785G>A	ENST00000330258.3	-	2	654	c.382C>T	c.(382-384)Ccc>Tcc	p.P128S	AMER1_ENST00000403336.1_Missense_Mutation_p.P128S|AMER1_ENST00000374869.3_Missense_Mutation_p.P128S	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)|p.P128S(2)									TGAGAGCTGGGAAATTGGCAG	0.557000													10	98					0	0	0.010729	0	0
VGLL2	245806	broad.mit.edu	37	6	117589564	117589564	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr6:117589564G>T	ENST00000326274.5	+	2	491	c.301G>T	c.(301-303)Gaa>Taa	p.E101*	VGLL2_ENST00000352536.3_Nonsense_Mutation_p.E101*	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	101					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		CGTGGTGGATGAACATTTCAG	0.582000													4	106					2.56e-06	2.9628e-06	0.009096	1	0
SYNE2	23224	broad.mit.edu	37	14	64686021	64686021	+	Missense_Mutation	SNP	G	G	T	rs148199074	by1000genomes	TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr14:64686021G>T	ENST00000357395.3	+	110	19983	c.8839G>T	c.(8839-8841)Gcc>Tcc	p.A2947S	SYNE2_ENST00000441438.2_Missense_Mutation_p.A93S|SYNE2_ENST00000555022.1_Missense_Mutation_p.A440S|SYNE2_ENST00000554805.1_Missense_Mutation_p.A345S|SYNE2_ENST00000344113.4_Missense_Mutation_p.A6562S|SYNE2_ENST00000555002.1_Missense_Mutation_p.A3219S|SYNE2_ENST00000554584.1_Missense_Mutation_p.A6478S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.A2947S|SYNE2_ENST00000458046.2_Missense_Mutation_p.A219S|SYNE2_ENST00000358025.3_Missense_Mutation_p.A6585S			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6562					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.A6585S(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGATATCAGCGCCATCACTAC	0.428000													12	104					6.40141e-05	6.96996e-05	0.010729	1	0
MYH2	4620	broad.mit.edu	37	17	10432095	10432095	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr17:10432095A>G	ENST00000245503.5	-	27	4040	c.3656T>C	c.(3655-3657)gTg>gCg	p.V1219A	MYH2_ENST00000397183.2_Missense_Mutation_p.V1219A|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1219					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.V1219A(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTCTGCTTCACTCGCTGCAG	0.512000													27	186					0	0	0.008361	0	0
CEP85L	387119	broad.mit.edu	37	6	118953676	118953676	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr6:118953676T>A	ENST00000368491.3	-	2	793	c.172A>T	c.(172-174)Agt>Tgt	p.S58C	CEP85L_ENST00000419517.2_Missense_Mutation_p.S58C|CEP85L_ENST00000392500.3_Missense_Mutation_p.S61C|CEP85L_ENST00000368488.5_Missense_Mutation_p.S61C|CEP85L_ENST00000360290.3_5'UTR	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	58						centrosome		p.S58C(1)									GAAGCTATACTGTGTCTCCTG	0.413000													21	126					0	0	0.014323	0	0
TTC38	55020	broad.mit.edu	37	22	46671251	46671251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr22:46671251C>T	ENST00000381031.3	+	5	548	c.472C>T	c.(472-474)Cag>Tag	p.Q158*	TTC38_ENST00000445282.2_Intron	NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	158							binding	p.Q158*(1)		endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						CCTGGGCTATCAGGAACAGAT	0.468000													18	170					0	0	0.012319	0	0
CASC3	22794	broad.mit.edu	37	17	38296830	38296830	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr17:38296830C>T	ENST00000264645.7	+	1	255	c.29C>T	c.(28-30)tCg>tTg	p.S10L		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	10					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	p.S10L(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CAGCGCGCTTCGCAAGACACC	0.726000													8	47					0	0	0.003080	0	0
TTC14	151613	broad.mit.edu	37	3	180322027	180322027	+	Silent	SNP	A	A	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr3:180322027A>G	ENST00000412756.2	+	4	570	c.501A>G	c.(499-501)ttA>ttG	p.L167L	TTC14_ENST00000382584.4_Silent_p.L167L|TTC14_ENST00000296015.4_Silent_p.L167L	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	167	S1 motif.						RNA binding	p.L167L(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTGTCCCTTAAGAGATGTGC	0.348000													11	88					0	0	0.013537	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269436	30269436	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:30269436G>C	ENST00000378981.3	+	4	1147	c.826G>C	c.(826-828)Gcc>Ccc	p.A276P	MAGEB1_ENST00000397548.2_Missense_Mutation_p.A276P|MAGEB1_ENST00000397550.1_Missense_Mutation_p.A276P	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	276	MAGE.							p.A276P(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GGGTCCGAGAGCCTATGCTGA	0.493000													19	108					0	0	0.007413	0	0
BAG3	9531	broad.mit.edu	37	10	121432086	121432086	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr10:121432086G>T	ENST00000369085.3	+	3	1133	c.827G>T	c.(826-828)cGg>cTg	p.R276L		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	276					anti-apoptosis|apoptosis|protein folding	cytosol		p.R276L(1)		endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GCATCGAGCCGGGAGGGCTCA	0.667000													11	59					5.50884e-06	6.22329e-06	0.013537	1	0
POSTN	10631	broad.mit.edu	37	13	38154004	38154004	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr13:38154004G>C	ENST00000379747.4	-	12	1771	c.1654C>G	c.(1654-1656)Ctg>Gtg	p.L552V	POSTN_ENST00000541179.1_Missense_Mutation_p.L552V|POSTN_ENST00000541481.1_Missense_Mutation_p.L552V|POSTN_ENST00000379749.4_Missense_Mutation_p.L552V|POSTN_ENST00000379743.4_Missense_Mutation_p.L552V|POSTN_ENST00000379742.4_Missense_Mutation_p.L552V	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	552	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	p.L552V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTACGTATCAGAATTTCTTTT	0.398000													6	55					0	0	0.001168	0	0
NR4A2	4929	broad.mit.edu	37	2	157185044	157185044	+	Splice_Site	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr2:157185044C>T	ENST00000339562.4	-	4	1228	c.864_splice	c.e4-1	p.R289_splice	NR4A2_ENST00000409572.1_Splice_Site_p.R289_splice|NR4A2_ENST00000409108.2_Splice_Site_p.R289_splice|NR4A2_ENST00000539077.1_Splice_Site_p.R300_splice|NR4A2_ENST00000426264.1_Splice_Site_p.R226_splice|NR4A2_ENST00000429376.1_Splice_Site_p.R226_splice	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	289					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R289H(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TTGCACTGTGCGCTGCAAAAG	0.418000													4	134					0	0	0.009096	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73163757	73163757	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr5:73163757G>T	ENST00000545377.1	+	19	2385	c.2209G>T	c.(2209-2211)Gtg>Ttg	p.V737L	ARHGEF28_ENST00000437974.1_Missense_Mutation_p.V737L|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.V737L|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.V737L|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.V424L|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.V737L|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.V737L	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28									p.V737L(2)									TTCTTCCTCCGTGCCTGTTGG	0.512000													7	66					5.18039e-06	5.93325e-06	0.003080	1	0
NTNG1	22854	broad.mit.edu	37	1	107937895	107937895	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:107937895G>A	ENST00000370067.1	+	4	1634	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	NTNG1_ENST00000370073.2_Missense_Mutation_p.R336Q|NTNG1_ENST00000370070.2_Missense_Mutation_p.R336Q|NTNG1_ENST00000370072.3_Missense_Mutation_p.R336Q|NTNG1_ENST00000370071.2_Missense_Mutation_p.R336Q|NTNG1_ENST00000370074.4_Missense_Mutation_p.R336Q|NTNG1_ENST00000370068.1_Missense_Mutation_p.R336Q|NTNG1_ENST00000370061.3_Missense_Mutation_p.R336Q|NTNG1_ENST00000370065.1_Missense_Mutation_p.R336Q|NTNG1_ENST00000542803.1_Missense_Mutation_p.R336Q|NTNG1_ENST00000370066.1_Missense_Mutation_p.R336Q			Q9Y2I2	NTNG1_HUMAN	netrin G1	336	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane	protein binding	p.R336Q(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TATCAGGGCCGACCTTGGAGT	0.483000													6	175					0	0	0.001168	0	0
ST8SIA1	6489	broad.mit.edu	37	12	22408292	22408292	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr12:22408292C>A	ENST00000396037.4	-	3	894	c.413G>T	c.(412-414)tGc>tTc	p.C138F	ST8SIA1_ENST00000539510.1_Intron	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	138					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.C138F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CACCACCGCGCATTTCTTCAA	0.483000													16	148					8.00594e-06	9.01349e-06	0.007413	1	0
ITGA1	3672	broad.mit.edu	37	5	52206136	52206136	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr5:52206136A>C	ENST00000282588.6	+	14	2202	c.1744A>C	c.(1744-1746)Aat>Cat	p.N582H		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	582					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	p.N582H(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AAAAGACCTCAATCTTGATGG	0.453000													5	56					0	0	0.014758	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102312093	102312093	+	RNA	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr15:102312093C>A	ENST00000561463.1	+	0	13461																											AGGTGGGGATCCGAGTGCAGT	0.607000													13	86					2.32078e-09	2.89879e-09	0.003163	1	0
MUC16	94025	broad.mit.edu	37	19	8971676	8971676	+	Splice_Site	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr19:8971676C>T	ENST00000397910.4	-	78	43119	c.42916_splice	c.e78+1	p.E14306_splice	MUC16_ENST00000380951.5_Splice_Site_p.E947_splice	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14401	SEA 15.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E14306K(1)		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						CACCTTGTACCTGTCACATGG	0.542000													6	38					0	0	0.003080	0	0
BRINP2	57795	broad.mit.edu	37	1	177250215	177250215	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:177250215T>A	ENST00000361539.4	+	8	2215	c.1903T>A	c.(1903-1905)Tgg>Agg	p.W635R	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		635						extracellular region		p.W635R(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GGGGAATAGGTGGAAGACTTT	0.498000													18	95					0	0	0.004990	0	0
ITGA2	3673	broad.mit.edu	37	5	52371076	52371076	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr5:52371076G>A	ENST00000296585.5	+	23	2910	c.2767G>A	c.(2767-2769)Gat>Aat	p.D923N		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	923					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	p.D923N(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AAACAAGGCTGATAATTTGGT	0.363000													5	73					0	0	0.001168	0	0
ZC3H13	23091	broad.mit.edu	37	13	46559778	46559778	+	Silent	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr13:46559778C>G	ENST00000242848.4	-	10	1722	c.1374G>C	c.(1372-1374)cgG>cgC	p.R458R	ZC3H13_ENST00000282007.3_Silent_p.R458R			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	458	Arg/Ser-rich.						nucleic acid binding|zinc ion binding	p.R458R(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TGGCATCTCTCCGATCCCGAC	0.478000													16	251					0	0	0.003163	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1984472	1984472	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr12:1984472G>T	ENST00000382722.5	-	17	2113	c.1751C>A	c.(1750-1752)cCt>cAt	p.P584H	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.P520H|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.P584H|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.P520H|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.P559H|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.P469H	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	584						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.P584H(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTTGTAGTTAGGTTTGGGTTT	0.478000													11	111					7.03913e-09	8.66153e-09	0.013537	1	0
HLA-B	3106	broad.mit.edu	37	6	31323207	31323207	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr6:31323207C>G	ENST00000412585.2	-	4	810	c.782G>C	c.(781-783)gGa>gCa	p.G261A		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B									p.G261A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GGTTCTATCTCCTGCTGGTCT	0.587000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				7	136					0	0	0.003080	0	0
MAP1A	4130	broad.mit.edu	37	15	43817874	43817874	+	Silent	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr15:43817874G>A	ENST00000382031.1	+	5	4948	c.4917G>A	c.(4915-4917)gtG>gtA	p.V1639V	MAP1A_ENST00000399453.1_Silent_p.V1401V|MAP1A_ENST00000300231.5_Silent_p.V1401V			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1401						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.V1401V(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ATGAGGCTGTGAAACAGCAGG	0.463000													5	111					0	0	0.001168	0	0
POLR1A	25885	broad.mit.edu	37	2	86257402	86257402	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr2:86257402C>T	ENST00000263857.6	-	31	5074	c.4696G>A	c.(4696-4698)Gaa>Aaa	p.E1566K	POLR1A_ENST00000409681.1_Missense_Mutation_p.E1505K			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1566					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	p.E1566K(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTGGTTGTTTCATTCAGGAGG	0.478000													6	166					0	0	0.001168	0	0
MAVS	57506	broad.mit.edu	37	20	3835373	3835373	+	Silent	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr20:3835373C>G	ENST00000428216.2	+	2	230	c.102C>G	c.(100-102)ctC>ctG	p.L34L	MAVS_ENST00000416600.2_5'UTR|MAVS_ENST00000358134.6_Silent_p.L34L	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	34	CARD.|Required for interaction with NLRX1.				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TGCCCTGCCTCACAGCAAGAG	0.522000													3	82					0	0	0.004672	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111745468	111745468	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr9:111745468T>A	ENST00000374595.4	-	6	936	c.857A>T	c.(856-858)gAc>gTc	p.D286V	CTNNAL1_ENST00000325580.6_Missense_Mutation_p.D286V|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.D286V			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	286					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	p.D286V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		AGATGAAATGTCAGTCTCTCC	0.299000													3	40					0	0	0.009096	0	0
HN1L	90861	broad.mit.edu	37	16	1748889	1748889	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr16:1748889G>C	ENST00000248098.3	+	5	520	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	HN1L_ENST00000382711.5_Missense_Mutation_p.E139Q|HN1L_ENST00000562684.1_Missense_Mutation_p.E183Q|HN1L_ENST00000561516.1_3'UTR|HN1L_ENST00000382710.4_Missense_Mutation_p.E143Q|HN1L_ENST00000569765.1_3'UTR|HN1L_ENST00000569256.1_3'UTR	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	155						cytoplasm|nucleus				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						CAAGGAGCAGGAGCCCATGCC	0.632000													5	145					0	0	0.014758	0	0
CD82	3732	broad.mit.edu	37	11	44626629	44626629	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr11:44626629G>C	ENST00000227155.4	+	5	406	c.158G>C	c.(157-159)aGg>aCg	p.R53T	CD82_ENST00000342935.3_Missense_Mutation_p.R53T|RP11-58K22.5_ENST00000533814.1_RNA|CD82_ENST00000530931.1_3'UTR	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	53						integral to plasma membrane	protein binding	p.R53T(1)		large_intestine(1)|ovary(1)	2						AGCTCGCTTAGGATGGGGGCC	0.592000													14	218					0	0	0.002450	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559173	129559173	+	Silent	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr12:129559173G>C	ENST00000422113.2	-	9	2873	c.2547C>G	c.(2545-2547)ctC>ctG	p.L849L	TMEM132D_ENST00000389441.4_Silent_p.L387L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	849						integral to membrane		p.L849L(2)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTCCCTCCATGAGTCCCATAG	0.517000													4	106					0	0	0.009096	0	0
CENPF	1063	broad.mit.edu	37	1	214788297	214788297	+	Silent	SNP	A	A	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:214788297A>G	ENST00000366955.3	+	3	453	c.285A>G	c.(283-285)tcA>tcG	p.S95S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	95	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCAAGGAGTCACAAGTGAATT	0.348000													5	43					0	0	0.014758	0	0
SYTL2	54843	broad.mit.edu	37	11	85436910	85436910	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr11:85436910C>A	ENST00000359152.5	-	1	2161	c.2162G>T	c.(2161-2163)aGt>aTt	p.S721I	SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.S197I|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.S197I	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	234	C2 1.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	p.S197I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTCAGAAACACTTGGTTCAAG	0.393000													20	188					8.28177e-16	1.12347e-15	0.007413	1	0
KRTAP13-3	337960	broad.mit.edu	37	21	31797938	31797938	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr21:31797938C>A	ENST00000390690.2	-	1	348	c.293G>T	c.(292-294)gGg>gTg	p.G98V		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	98	5 X 10 AA approximate repeats.					intermediate filament		p.G98V(1)		endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						ACCCCGAGACCCAACATGCAT	0.537000													7	41					0.00198382	0.00207143	0.001984	1	0
TCF20	6942	broad.mit.edu	37	22	42610599	42610599	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr22:42610599G>C	ENST00000359486.3	-	1	849	c.713C>G	c.(712-714)tCt>tGt	p.S238C	TCF20_ENST00000335626.4_Missense_Mutation_p.S238C	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	238	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.S238C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ggaggaAGCAGAAGACTGATA	0.522000													10	197					0	0	0.006214	0	0
GCM2	9247	broad.mit.edu	37	6	10874367	10874367	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr6:10874367A>T	ENST00000379491.4	-	5	1529	c.1382T>A	c.(1381-1383)gTg>gAg	p.V461E	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	461					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	p.V461E(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GGGAATAGCCACAGTGGGTCT	0.577000													7	45					0	0	0.001984	0	0
CDHR2	54825	broad.mit.edu	37	5	175992678	175992678	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr5:175992678G>A	ENST00000510636.1	+	3	332	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	CDHR2_ENST00000261944.5_Missense_Mutation_p.A20T|CDHR2_ENST00000506348.1_Missense_Mutation_p.A20T	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	20					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TACAGTGGCAGCCAACGTGGC	0.607000													3	29					0	0	0.004672	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737699	62737699	+	Silent	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr20:62737699C>A	ENST00000369768.1	-	1	825	c.486G>T	c.(484-486)ggG>ggT	p.G162G		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	162						plasma membrane	opioid receptor activity|protein binding	p.G162G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CGACCTTCGCCCCCCGGTAGG	0.637000													6	41					1.26484e-09	1.59795e-09	0.003080	1	0
CUL7	9820	broad.mit.edu	37	6	43007936	43007936	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr6:43007936G>C	ENST00000535468.1	-	22	4590	c.4504C>G	c.(4504-4506)Ctg>Gtg	p.L1502V	CUL7_ENST00000265348.3_Missense_Mutation_p.L1418V	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1418					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	p.L1418V(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GTGCCCCTCAGGTAGGAGGGC	0.577000													9	233					0	0	0.004482	0	0
TMEM176B	28959	broad.mit.edu	37	7	150493537	150493537	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr7:150493537C>T	ENST00000447204.2	-	2	493	c.121G>A	c.(121-123)Ggt>Agt	p.G41S	TMEM176B_ENST00000434545.1_Missense_Mutation_p.G41S|TMEM176B_ENST00000450753.2_Missense_Mutation_p.G41S|TMEM176B_ENST00000492607.1_Missense_Mutation_p.G41S|TMEM176B_ENST00000429904.2_Missense_Mutation_p.G41S|TMEM176B_ENST00000326442.5_Missense_Mutation_p.G41S	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	41					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		p.G41S(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCAGAGAACCTCCAGCTTTC	0.542000													13	104					0	0	0.013537	0	0
DPYS	1807	broad.mit.edu	37	8	105405013	105405013	+	Splice_Site	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr8:105405013C>A	ENST00000351513.2	-	8	1574	c.1443_splice	c.e8+1	p.R481_splice	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	481					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.R481L(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CACACTCACCCGGTCTCGCTG	0.478000													25	237					7.41945e-09	9.0957e-09	0.005443	1	0
TTN	7273	broad.mit.edu	37	2	179569987	179569987	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr2:179569987G>T	ENST00000589042.1	-	103	29742	c.29518C>A	c.(29518-29520)Cgc>Agc	p.R9840S	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R8596S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R9523S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9523	Ig-like 79.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R8596S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATACATGCGGGCATATTTT	0.393000													4	29					0.00909568	0.00940834	0.009096	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85450232	85450232	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr12:85450232A>T	ENST00000393217.2	+	8	1722	c.1661A>T	c.(1660-1662)cAg>cTg	p.Q554L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	554								p.Q554L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CAAAAAACCCAGATAATATTA	0.308000													10	32					0	0	0.008291	0	0
ACVR2B	93	broad.mit.edu	37	3	38520636	38520636	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr3:38520636G>C	ENST00000352511.3	+	6	1156	c.684G>C	c.(682-684)caG>caC	p.Q228H		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	228	Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		AGTCGTGGCAGAGTGAACGGG	0.587000													7	368					0	0	0.001984	0	0
AIDA	64853	broad.mit.edu	37	1	222843271	222843271	+	Silent	SNP	A	A	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:222843271A>T	ENST00000340020.6	-	10	1091	c.885T>A	c.(883-885)ctT>ctA	p.L295L	AIDA_ENST00000541237.1_Silent_p.L271L|AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000355727.2_Silent_p.L213L	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	295					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity			p.L295L(1)		kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						GATGAAGATAAAGTGGTTTCT	0.343000													9	82					0	0	0.006214	0	0
MAP9	79884	broad.mit.edu	37	4	156281387	156281387	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr4:156281387G>T	ENST00000311277.4	-	7	1246	c.983C>A	c.(982-984)aCa>aAa	p.T328K	MAP9_ENST00000515654.1_Missense_Mutation_p.T304K|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000598890.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	328					cell division|mitosis	cytoplasm|microtubule|spindle		p.T328K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TGGATCAACTGTTCTGTCATC	0.368000													5	47					0.000602214	0.000638888	0.014758	1	0
GPLD1	2822	broad.mit.edu	37	6	24462987	24462987	+	Silent	SNP	T	T	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr6:24462987T>C	ENST00000230036.1	-	11	968	c.858A>G	c.(856-858)gcA>gcG	p.A286A		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	286						extracellular region	glycosylphosphatidylinositol phospholipase D activity	p.A286A(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GGCCGCCACATGCAATGAACA	0.453000													18	144					0	0	0.012319	0	0
HLA-B	3106	broad.mit.edu	37	6	31323241	31323241	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr6:31323241G>C	ENST00000412585.2	-	4	776	c.748C>G	c.(748-750)Cag>Gag	p.Q250E		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCAGTGTCCTGAGTTTGGTCC	0.587000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				3	173					0	0	0.009096	0	0
LRP1B	53353	broad.mit.edu	37	2	141260574	141260574	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr2:141260574G>T	ENST00000389484.3	-	54	9591	c.8620C>A	c.(8620-8622)Cat>Aat	p.H2874N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2874	LDL-receptor class A 19.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D2873_H2874>EN(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATCAGAATGGTCAGGACAG	0.388000										TSP Lung(27;0.18)			6	57					0.00116845	0.0012278	0.001168	1	0
KIAA1755	85449	broad.mit.edu	37	20	36869715	36869715	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr20:36869715C>A	ENST00000279024.4	-	3	1089	c.818G>T	c.(817-819)gGa>gTa	p.G273V		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	273								p.G273V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CACATAGTCTCCCTCGAAGTC	0.572000													15	172					2.32078e-09	2.89879e-09	0.003163	1	0
CCNG2	901	broad.mit.edu	37	4	78080596	78080596	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr4:78080596C>T	ENST00000316355.5	+	3	571	c.215C>T	c.(214-216)tCt>tTt	p.S72F	CCNG2_ENST00000354403.5_Missense_Mutation_p.S72F|CCNG2_ENST00000395640.1_Missense_Mutation_p.S72F|CCNG2_ENST00000509972.1_Missense_Mutation_p.S72F|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000502280.1_Missense_Mutation_p.S72F	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	72					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTTTTGGATCTTGCACTGAA	0.343000													4	152					0	0	0.014758	0	0
CHD6	84181	broad.mit.edu	37	20	40053841	40053841	+	Silent	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr20:40053841G>A	ENST00000373233.3	-	29	4500	c.4323C>T	c.(4321-4323)ctC>ctT	p.L1441L		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1441					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.L1441L(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCTTGTTGATGAGGTCCATTT	0.507000													8	102					0	0	0.003080	0	0
SGOL2	151246	broad.mit.edu	37	2	201437199	201437199	+	Silent	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr2:201437199G>A	ENST00000357799.4	+	7	2228	c.2130G>A	c.(2128-2130)aaG>aaA	p.K710K		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	710					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAGTTAATAAGAAGCTTAGGC	0.338000													4	74					0	0	0.009096	0	0
KIAA0391	9692	broad.mit.edu	37	14	35739605	35739605	+	Splice_Site	SNP	A	A	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr14:35739605A>T	ENST00000557565.1	+	7	1805		c.e7-1		KIAA0391_ENST00000604948.1_Splice_Site|KIAA0391_ENST00000603544.1_Splice_Site|KIAA0391_ENST00000605870.1_Splice_Site|KIAA0391_ENST00000534898.4_Splice_Site|KIAA0391_ENST00000321130.10_Splice_Site|KIAA0391_ENST00000250377.7_Splice_Site			O15091	MRRP3_HUMAN	KIAA0391						tRNA processing	mitochondrion		p.?(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		TGCCTGGTTCAGCTCGGAGGA	0.498000													16	137					0	0	0.006122	0	0
ELFN2	114794	broad.mit.edu	37	22	37771375	37771375	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr22:37771375A>C	ENST00000402918.1	-	3	985	c.200T>G	c.(199-201)cTc>cGc	p.L67R	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.L67R	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	67						cell surface|integral to membrane		p.L67R(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CACGGCTTTGAGCTTGTTCTC	0.592000													11	140					0	0	0.013537	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762134	130762134	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr6:130762134G>T	ENST00000392429.1	+	2	2945	c.567G>T	c.(565-567)atG>atT	p.M189I	TMEM200A_ENST00000296978.3_Missense_Mutation_p.M189I|TMEM200A_ENST00000545622.1_Missense_Mutation_p.M189I	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	189						integral to membrane		p.M189I(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CTGGTTTGATGGGAGAAACAG	0.448000													11	96					0.00010058	0.000108797	0.013537	1	0
NLRP2	55655	broad.mit.edu	37	19	55481503	55481503	+	Silent	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr19:55481503G>A	ENST00000543010.1	+	2	263	c.120G>A	c.(118-120)caG>caA	p.Q40Q	NLRP2_ENST00000537859.1_Silent_p.Q40Q|NLRP2_ENST00000339757.7_Silent_p.Q40Q|NLRP2_ENST00000448584.2_Silent_p.Q40Q|NLRP2_ENST00000538819.1_Silent_p.Q40Q|NLRP2_ENST00000391721.4_Silent_p.Q40Q|NLRP2_ENST00000427260.2_Silent_p.Q40Q|NLRP2_ENST00000263437.6_Silent_p.Q40Q	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	40	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.Q40Q(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACGAGCTCCAGAAGATCCCCC	0.557000													9	137					0	0	0.006214	0	0
CCAR2	57805	broad.mit.edu	37	8	22472990	22472990	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr8:22472990C>T	ENST00000308511.4	+	12	1507	c.1258C>T	c.(1258-1260)Cag>Tag	p.Q420*	RP11-582J16.5_ENST00000521025.1_RNA|KIAA1967_ENST00000389279.3_Nonsense_Mutation_p.Q420*|KIAA1967_ENST00000520861.1_Nonsense_Mutation_p.Q95*			Q8N163	K1967_HUMAN		420					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCGGCGGCTTCAGACAGTGGT	0.597000													6	280					0	0	0.001984	0	0
FRMPD1	22844	broad.mit.edu	37	9	37730993	37730993	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr9:37730993G>T	ENST00000539465.1	+	9	1344	c.751G>T	c.(751-753)Gag>Tag	p.E251*	FRMPD1_ENST00000536622.1_Nonsense_Mutation_p.E73*|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.E251*|FRMPD1_ENST00000541302.1_Nonsense_Mutation_p.E120*			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	251	FERM.					cytoskeleton|cytosol|plasma membrane		p.E251*(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGTAGAAAGGGAGGAGTCACA	0.488000													11	92					0.000151284	0.000163111	0.016723	1	0
GPR179	440435	broad.mit.edu	37	17	36485284	36485284	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr17:36485284C>G	ENST00000342292.4	-	11	4188	c.4168G>C	c.(4168-4170)Gag>Cag	p.E1390Q		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1390						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTCCCATCCTCGCCTCCTTCA	0.562000													8	330					0	0	0.003080	0	0
CSMD2	114784	broad.mit.edu	37	1	34128604	34128604	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:34128604C>G	ENST00000373381.4	-	26	4317	c.4141G>C	c.(4141-4143)Gag>Cag	p.E1381Q	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.E254Q	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1341						integral to membrane|plasma membrane	protein binding	p.E1341Q(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCACTCAGCTCCTTCAGCAGA	0.602000													12	155					0	0	0.010729	0	0
UBOX5	22888	broad.mit.edu	37	20	3102775	3102775	+	Silent	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr20:3102775C>A	ENST00000217173.2	-	3	981	c.510G>T	c.(508-510)gtG>gtT	p.V170V	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Silent_p.V170V	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1	O94941	RNF37_HUMAN	U-box domain containing 5	170						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.V170V(1)		endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						TTAAGTGGGCCACGTGGCTAA	0.607000													15	136					4.7546e-09	5.89428e-09	0.004007	1	0
CXXC1	30827	broad.mit.edu	37	18	47810363	47810363	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr18:47810363C>G	ENST00000285106.6	-	10	2028	c.1314G>C	c.(1312-1314)caG>caC	p.Q438H	CXXC1_ENST00000589940.1_Missense_Mutation_p.Q438H|CXXC1_ENST00000412036.2_Missense_Mutation_p.Q442H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	438					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	p.Q438H(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TGCGGGCACTCTGCTGCTCTC	0.602000													8	202					0	0	0.004482	0	0
TNR	7143	broad.mit.edu	37	1	175372526	175372526	+	Silent	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:175372526C>A	ENST00000367674.1	-	4	1434	c.726G>T	c.(724-726)cgG>cgT	p.R242R	TNR_ENST00000263525.2_Silent_p.R242R	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	242	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.R242R(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGCAGAGCCCCCGGGAGCTGC	0.642000													17	138					9.16793e-09	1.11977e-08	0.004990	1	0
IL27RA	9466	broad.mit.edu	37	19	14153285	14153285	+	Silent	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr19:14153285C>A	ENST00000263379.2	+	5	680	c.555C>A	c.(553-555)acC>acA	p.T185T		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	185	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	p.T185T(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						AGCTGAAGACCATACCCCTGA	0.532000											OREG0025302	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	269					4.16121e-05	4.57595e-05	0.016522	1	0
LVRN	206338	broad.mit.edu	37	5	115329519	115329519	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr5:115329519G>A	ENST00000357872.4	+	6	1466	c.1342G>A	c.(1342-1344)Gta>Ata	p.V448I	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		448					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.V448I(1)									TGAGTTTGAAGTAATTAACTA	0.303000													6	58					0	0	0.001168	0	0
HAUS4	54930	broad.mit.edu	37	14	23424312	23424312	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr14:23424312G>A	ENST00000206474.7	-	2	304	c.52C>T	c.(52-54)Caa>Taa	p.Q18*	HAUS4_ENST00000342454.8_Nonsense_Mutation_p.Q18*|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000490506.1_5'UTR|HAUS4_ENST00000397409.4_Nonsense_Mutation_p.Q18*|HAUS4_ENST00000555367.1_Nonsense_Mutation_p.Q18*|HAUS4_ENST00000347758.2_Nonsense_Mutation_p.Q18*|HAUS4_ENST00000541587.1_Nonsense_Mutation_p.Q18*|RP11-298I3.5_ENST00000555074.1_Intron|HAUS4_ENST00000555986.1_Nonsense_Mutation_p.Q18*			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	18					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		p.Q18*(1)		breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						CTCTTACCTTGTTGAAGTATT	0.408000													12	235					0	0	0.016723	0	0
GPR98	84059	broad.mit.edu	37	5	89943510	89943510	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr5:89943510C>T	ENST00000405460.2	+	17	3314	c.3218C>T	c.(3217-3219)tCc>tTc	p.S1073F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1073	Calx-beta 8.				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	p.S1073F(1)|p.S1073C(1)		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)		CAGAGCATATCCATATTTGTT	0.383000													5	125					0	0	0.014758	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134239	91134239	+	Silent	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:91134239C>A	ENST00000373094.1	+	2	3845	c.3000C>A	c.(2998-3000)acC>acA	p.T1000T	PCDH11X_ENST00000406881.1_Silent_p.T1000T|PCDH11X_ENST00000504220.1_Silent_p.T1000T|PCDH11X_ENST00000361724.1_Silent_p.T1000T|PCDH11X_ENST00000361655.2_Silent_p.T1000T|PCDH11X_ENST00000373097.1_Silent_p.T1000T|PCDH11X_ENST00000373088.1_Silent_p.T1000T|PCDH11X_ENST00000298274.8_Silent_p.T1000T|PCDH11X_ENST00000395337.2_Silent_p.T1000T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1000					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.T1000T(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAGTGACGACCTTCGAGGTAC	0.433000													23	188					2.12542e-12	2.81405e-12	0.006320	1	0
LAMA4	3910	broad.mit.edu	37	6	112471753	112471753	+	Silent	SNP	T	T	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr6:112471753T>C	ENST00000230538.7	-	17	2530	c.2133A>G	c.(2131-2133)agA>agG	p.R711R	LAMA4_ENST00000522006.1_Silent_p.R704R|LAMA4_ENST00000424408.2_Silent_p.R704R|LAMA4_ENST00000389463.4_Silent_p.R704R	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	711	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.R704R(1)		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)		CATCACTGAGTCTGGTTTTAA	0.488000													15	91					0	0	0.002450	0	0
SEMA6B	10501	broad.mit.edu	37	19	4558145	4558145	+	Silent	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr19:4558145G>A	ENST00000586582.1	-	3	448	c.138C>T	c.(136-138)ccC>ccT	p.P46P	SEMA6B_ENST00000301293.3_Silent_p.P46P|SEMA6B_ENST00000586965.1_Silent_p.P46P	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	46	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.P46P(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACAAACACGGGATAGTGGT	0.637000											OREG0025169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	32					0	0	0.014758	0	0
ZNF318	24149	broad.mit.edu	37	6	43333100	43333100	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr6:43333100T>A	ENST00000361428.2	-	2	555	c.478A>T	c.(478-480)Agc>Tgc	p.S160C	ZNF318_ENST00000318149.3_Missense_Mutation_p.S160C	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	160					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.S160C(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCTGGTGTGCTAACACAGAAG	0.483000													20	129					0	0	0.008871	0	0
KALRN	8997	broad.mit.edu	37	3	124174058	124174058	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr3:124174058T>A	ENST00000360013.3	+	22	3708	c.3581T>A	c.(3580-3582)cTg>cAg	p.L1194Q	KALRN_ENST00000240874.3_Missense_Mutation_p.L1194Q|KALRN_ENST00000460856.1_Missense_Mutation_p.L1185Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1194					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.L1194Q(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTGATTCAGCTGGCCGATAGC	0.483000													16	90					0	0	0.004007	0	0
PSG4	5672	broad.mit.edu	37	19	43699270	43699270	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr19:43699270G>C	ENST00000405312.3	-	4	1102	c.865C>G	c.(865-867)Ccc>Gcc	p.P289A	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.P196A	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	289	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region		p.P289A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TTTTCAATGGGTCGCTTTACC	0.468000													30	428					0	0	0.011902	0	0
NEDD4L	23327	broad.mit.edu	37	18	55996303	55996303	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr18:55996303A>T	ENST00000456986.1	+	10	994	c.394A>T	c.(394-396)Agg>Tgg	p.R132W	NEDD4L_ENST00000400345.3_Missense_Mutation_p.R253W|NEDD4L_ENST00000431212.2_Missense_Mutation_p.R132W|NEDD4L_ENST00000586263.1_Missense_Mutation_p.R245W|NEDD4L_ENST00000456173.2_Missense_Mutation_p.R132W|NEDD4L_ENST00000356462.6_Missense_Mutation_p.R253W|NEDD4L_ENST00000382850.4_Missense_Mutation_p.R253W|NEDD4L_ENST00000435432.2_Missense_Mutation_p.R132W|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R245W|NEDD4L_ENST00000256832.7_Missense_Mutation_p.R132W|NEDD4L_ENST00000256830.9_Missense_Mutation_p.R253W|NEDD4L_ENST00000589054.1_Intron	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	253					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	p.R253W(2)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CCGCTCCCGCAGGCACATCAG	0.617000													5	50					0	0	0.014758	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162562	90162562	+	RNA	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr16:90162562G>T	ENST00000567960.1	+	0	1298				TUBB8P7_ENST00000564451.1_RNA														p.E432*(1)									GGCCGAGGAGGAGGATGAGGA	0.522000													17	197					5.3912e-06	6.13226e-06	0.006122	1	0
KIAA0100	9703	broad.mit.edu	37	17	26960091	26960091	+	Missense_Mutation	SNP	T	T	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr17:26960091T>G	ENST00000528896.2	-	20	3748	c.3674A>C	c.(3673-3675)cAt>cCt	p.H1225P	KIAA0100_ENST00000389003.3_Missense_Mutation_p.H1082P|KIAA0100_ENST00000544884.1_Missense_Mutation_p.H1082P	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1225						extracellular region		p.H1225P(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGTGACACTATGGTGATCATG	0.592000													10	77					0	0	0.008291	0	0
ST8SIA1	6489	broad.mit.edu	37	12	22408291	22408291	+	Silent	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr12:22408291G>A	ENST00000396037.4	-	3	895	c.414C>T	c.(412-414)tgC>tgT	p.C138C	ST8SIA1_ENST00000539510.1_Intron	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	138					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.C138F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CCACCACCGCGCATTTCTTCA	0.483000													16	152					0	0	0.008871	0	0
CRYBA4	1413	broad.mit.edu	37	22	27024278	27024278	+	Silent	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr22:27024278C>A	ENST00000354760.3	+	5	362	c.327C>A	c.(325-327)atC>atA	p.I109I	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	109	Beta/gamma crystallin 'Greek key' 3.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	p.I109I(1)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GGCTGACAATCTTCGAGCAAG	0.562000													14	118					2.94398e-08	3.55642e-08	0.007413	1	0
CLCA2	9635	broad.mit.edu	37	1	86890064	86890064	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:86890064T>A	ENST00000370565.4	+	1	296	c.134T>A	c.(133-135)aTt>aAt	p.I45N		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	45					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	p.I45N(1)		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)		GGATTGCTCATTGCAATTAAT	0.418000													7	68					0	0	0.003080	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68704151	68704151	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr11:68704151G>A	ENST00000255078.3	+	13	2314	c.2203G>A	c.(2203-2205)Gag>Aag	p.E735K		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	735	R3H.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CATGATAGTGGAGTTCATGGC	0.597000													4	55					0	0	0.009096	0	0
OR4C15	81309	broad.mit.edu	37	11	55321922	55321922	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr11:55321922C>A	ENST00000314644.2	+	1	140	c.140C>A	c.(139-141)gCt>gAt	p.A47D		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A47D(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CCTGTTGGAGCTTTCATCTTT	0.373000										HNSCC(20;0.049)			16	191					1.15088e-07	1.3605e-07	0.004007	1	0
DHX34	9704	broad.mit.edu	37	19	47870329	47870329	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr19:47870329G>T	ENST00000328771.4	+	7	2034	c.1685G>T	c.(1684-1686)cGg>cTg	p.R562L	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	562						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	p.R562L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CTCTACCTCCGGGACCAGGGG	0.632000													8	37					0.000673444	0.000712172	0.008291	1	0
GGNBP2	79893	broad.mit.edu	37	17	34937810	34937810	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr17:34937810G>T	ENST00000304718.4	+	9	1373	c.1057G>T	c.(1057-1059)Gaa>Taa	p.E353*		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	353					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		p.E353*(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TAGCAGATTGGAACAACTTTG	0.348000													11	148					6.40141e-05	6.96996e-05	0.010729	1	0
METTL4	64863	broad.mit.edu	37	18	2566837	2566837	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr18:2566837T>C	ENST00000319888.6	-	2	1177	c.379A>G	c.(379-381)Att>Gtt	p.I127V	METTL4_ENST00000574538.1_Missense_Mutation_p.I127V			Q8N3J2	METL4_HUMAN	methyltransferase like 4	127					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	p.I127V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ATAATAGAAATGGAGATTTCT	0.289000													4	39					0	0	0.009096	0	0
FAM9B	171483	broad.mit.edu	37	X	9001120	9001120	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:9001120G>A	ENST00000362066.3	-	1	231	c.43C>T	c.(43-45)Cca>Tca	p.P15S	FAM9B_ENST00000327220.5_Intron			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	0						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				CCCGAACCTGGTGAGCGCAAA	0.597000													5	42					0	0	0.014758	0	0
AMER1	139285	broad.mit.edu	37	X	63411089	63411089	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:63411089G>C	ENST00000330258.3	-	2	2350	c.2078C>G	c.(2077-2079)cCa>cGa	p.P693R	AMER1_ENST00000403336.1_Missense_Mutation_p.P693R|AMER1_ENST00000374869.3_Missense_Mutation_p.P693R	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)|p.P693R(2)									CCTCCAGTCTGGCTCGCTGCT	0.567000													12	96					0	0	0.016723	0	0
PHLDB2	90102	broad.mit.edu	37	3	111671462	111671462	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr3:111671462G>T	ENST00000431670.2	+	11	3086	c.2675G>T	c.(2674-2676)gGc>gTc	p.G892V	PHLDB2_ENST00000481953.1_Missense_Mutation_p.G849V|PHLDB2_ENST00000393925.3_Missense_Mutation_p.G892V|PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000393923.3_Missense_Mutation_p.G876V|PHLDB2_ENST00000412622.1_Missense_Mutation_p.G849V	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	892						cytoplasm|intermediate filament cytoskeleton|plasma membrane		p.G876V(1)|p.G892V(1)|p.G849V(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CATAAAGAAGGCCTCTATCTG	0.403000													13	83					0.00010058	0.000108797	0.013537	1	0
COL4A6	1288	broad.mit.edu	37	X	107400454	107400454	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:107400454G>T	ENST00000334504.7	-	45	5082	c.4849C>A	c.(4849-4851)Ctg>Atg	p.L1617M	COL4A6_ENST00000545689.1_Missense_Mutation_p.L1593M|COL4A6_ENST00000538570.1_Missense_Mutation_p.L1560M|COL4A6_ENST00000372216.4_Missense_Mutation_p.L1618M|COL4A6_ENST00000418180.1_Missense_Mutation_p.L152M|COL4A6_ENST00000394872.2_Missense_Mutation_p.L1618M	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1618	Collagen IV NC1.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.L1617M(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGTGAGACCAGGGACTGGCCT	0.592000									Alport syndrome with Diffuse Leiomyomatosis				20	143					1.90627e-21	2.62906e-21	0.012319	1	0
ABHD2	11057	broad.mit.edu	37	15	89734318	89734318	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr15:89734318C>T	ENST00000352732.5	+	9	1454	c.934C>T	c.(934-936)Cac>Tac	p.H312Y	ABHD2_ENST00000355100.3_Missense_Mutation_p.H312Y|ABHD2_ENST00000565973.1_Missense_Mutation_p.H312Y	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	312						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					CAGGAAGTTTCACGGCTATAA	0.468000													4	91					0	0	0.009096	0	0
ABCB1	5243	broad.mit.edu	37	7	87179864	87179864	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr7:87179864C>T	ENST00000265724.3	-	12	1561	c.1144G>A	c.(1144-1146)Ggg>Agg	p.G382R	ABCB1_ENST00000543898.1_Missense_Mutation_p.G318R	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	382					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.G382R(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GGTTTGTGCCCACTCTTCGAA	0.328000													8	106					0	0	0.004482	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741283	140741283	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr5:140741283C>T	ENST00000522605.1	+	1	1581	c.1581C>T	c.(1579-1581)gcC>gcT	p.A527A	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1												p.A527A(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGCGCGCCTTCGAGCTCA	0.667000													9	59					0	0	0.006214	0	0
CCKBR	887	broad.mit.edu	37	11	6290956	6290956	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr11:6290956G>C	ENST00000525462.1	+	2	212	c.209G>C	c.(208-210)gGa>gCa	p.G70A	CCKBR_ENST00000531712.1_3'UTR|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000525014.1_Missense_Mutation_p.G70A|CCKBR_ENST00000334619.2_Missense_Mutation_p.G70A			P32239	GASR_HUMAN	cholecystokinin B receptor	70					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.G70A(2)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	ATGAGCGTTGGAGGAAATATG	0.552000													14	186					0	0	0.002450	0	0
ABCC1	4363	broad.mit.edu	37	16	16215882	16215882	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr16:16215882C>T	ENST00000399408.2	+	25	3646	c.3471C>T	c.(3469-3471)agC>agT	p.S1157S	ABCC1_ENST00000345148.5_Silent_p.S1147S|ABCC1_ENST00000351154.5_Silent_p.S1088S|ABCC1_ENST00000349029.5_Silent_p.S1032S|ABCC1_ENST00000346370.5_Silent_p.S1091S|ABCC1_ENST00000399410.3_Silent_p.S1147S			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1147	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.S1147S(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AGTCGGTCAGCCGCTCCCCGG	0.602000													3	43					0	0	0.004672	0	0
BTK	695	broad.mit.edu	37	X	100617167	100617167	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:100617167C>A	ENST00000308731.7	-	7	745	c.582G>T	c.(580-582)gaG>gaT	p.E194D	BTK_ENST00000372880.1_Missense_Mutation_p.E194D	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	194					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.E194D(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ATACCTGGTCCTCCTCAGGCG	0.468000									Agammaglobulinemia, X-linked				18	149					5.3912e-06	6.13226e-06	0.006122	1	0
PCDHA12	56137	broad.mit.edu	37	5	140255890	140255890	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr5:140255890C>T	ENST00000398631.2	+	1	833	c.833C>T	c.(832-834)tCc>tTc	p.S278F	PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.S278F(2)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAATTTCCTATGGGATC	0.368000													8	292					0	0	0.004482	0	0
OR5B12	390191	broad.mit.edu	37	11	58207039	58207039	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr11:58207039C>A	ENST00000302572.2	-	1	607	c.586G>T	c.(586-588)Gtt>Ttt	p.V196F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V196F(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAAAAAATAACCATCTCACTG	0.398000													8	68					0.000157383	0.000169136	0.003080	1	0
SYNE2	23224	broad.mit.edu	37	14	64574293	64574293	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr14:64574293G>C	ENST00000357395.3	+	66	12876	c.1732G>C	c.(1732-1734)Gaa>Caa	p.E578Q	SYNE2_ENST00000344113.4_Missense_Mutation_p.E4193Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E827Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4208Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E578Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4193Q			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4193					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.E4193Q(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCAAGGCCCAGAATGTTCCCT	0.438000													11	336					0	0	0.010729	0	0
CD33	945	broad.mit.edu	37	19	51728706	51728706	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr19:51728706C>A	ENST00000262262.4	+	2	291	c.270C>A	c.(268-270)ttC>ttA	p.F90L	CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.F90L	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	90	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	p.F90L(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AGGGCAGATTCCGCCTCCTTG	0.522000													13	142					9.31168e-06	1.0448e-05	0.016723	1	0
D2HGDH	728294	broad.mit.edu	37	2	242681862	242681862	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr2:242681862G>C	ENST00000321264.4	+	4	572	c.363G>C	c.(361-363)gaG>gaC	p.E121D	D2HGDH_ENST00000403782.1_5'UTR|D2HGDH_ENST00000342518.6_Missense_Mutation_p.E121D|D2HGDH_ENST00000537090.1_Missense_Mutation_p.E121D	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	121	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	p.E121D(1)		breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		ACTGCCACGAGAGGAACCTGG	0.652000													4	23					0	0	0.014758	0	0
AAK1	22848	broad.mit.edu	37	2	69734606	69734606	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr2:69734606G>C	ENST00000409085.4	-	15	2487	c.2111C>G	c.(2110-2112)tCc>tGc	p.S704C	AAK1_ENST00000409068.1_Intron|AAK1_ENST00000406297.3_Missense_Mutation_p.S704C	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	704						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	p.S704C(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						TGTGAGTTTGGAGAAATTATC	0.438000													4	30					0	0	0.009096	0	0
AMMECR1	9949	broad.mit.edu	37	X	109459811	109459811	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:109459811G>C	ENST00000262844.5	-	3	801	c.634C>G	c.(634-636)Cgg>Ggg	p.R212G	AMMECR1_ENST00000372059.2_Missense_Mutation_p.R175G|AMMECR1_ENST00000372057.1_Missense_Mutation_p.R89G	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	212	AMMECR1.							p.R212G(1)		large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						CAGAAAAGCCGTGGCAGCTCA	0.378000													5	85					0	0	0.001984	0	0
IRS4	8471	broad.mit.edu	37	X	107978239	107978239	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:107978239G>T	ENST00000372129.2	-	1	1412	c.1336C>A	c.(1336-1338)Cct>Act	p.P446T		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	446						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.P446T(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCTTCTGCAGGGTGCCGGGGA	0.607000													24	221					5.45024e-15	7.33345e-15	0.018920	1	0
TBC1D7	51256	broad.mit.edu	37	6	13307827	13307827	+	Splice_Site	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr6:13307827C>A	ENST00000607658.1	-	5	739		c.e5+1		TBC1D7_ENST00000379307.2_Intron|TBC1D7_ENST00000356436.4_Intron|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Intron|TBC1D7_ENST00000379300.3_Intron			Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7						positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	p.?(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			GAAAGACCTACTTGCCTCTGT	0.453000													15	118					3.32936e-07	3.90786e-07	0.006122	1	0
WDR5B	54554	broad.mit.edu	37	3	122134359	122134359	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr3:122134359G>A	ENST00000330689.4	-	1	523	c.17C>T	c.(16-18)tCa>tTa	p.S6L		NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	6								p.S6L(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		GGCGTCTCTTGACTCCTTGGT	0.522000													26	190					0	0	0.005443	0	0
MAPK15	225689	broad.mit.edu	37	8	144800454	144800454	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr8:144800454C>A	ENST00000338033.4	+	4	387	c.268C>A	c.(268-270)Ctg>Atg	p.L90M	MAPK15_ENST00000395107.4_Missense_Mutation_p.L90M|RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395108.2_Missense_Mutation_p.L90M	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	90	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	p.L109M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGACATTTACCTGGTGTTTGA	0.622000													7	75					3.86212e-05	4.26121e-05	0.008291	1	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907940	12907940	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:12907940G>C	ENST00000317869.6	-	2	428	c.203C>G	c.(202-204)gCa>gGa	p.A68G		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ATCCTCTCCTGCTACAGCAGC	0.483000													4	283					0	0	0.014758	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153909105	153909105	+	Silent	SNP	A	A	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr3:153909105A>G	ENST00000356448.4	+	8	1952	c.1668A>G	c.(1666-1668)gtA>gtG	p.V556V	ARHGEF26_ENST00000465093.1_Silent_p.V556V|ARHGEF26_ENST00000465817.1_Intron	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	556	DH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	p.V556V(3)		endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TTAAGGAAGTATTGTCAAGGA	0.418000													5	29					0	0	0.014758	0	0
PALB2	79728	broad.mit.edu	37	16	23641517	23641517	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr16:23641517C>A	ENST00000261584.4	-	5	2110	c.1958G>T	c.(1957-1959)tGt>tTt	p.C653F		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	653					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.C653F(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TGGAAAAATACAGCTTCCCTC	0.423000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					25	236					3.73988e-18	5.11372e-18	0.006320	1	0
MUC16	94025	broad.mit.edu	37	19	9076466	9076466	+	Silent	SNP	T	T	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr19:9076466T>C	ENST00000397910.4	-	3	11183	c.10980A>G	c.(10978-10980)gaA>gaG	p.E3660E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3661	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E3660E(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAATGTTCTTTCACTTGTAC	0.458000													8	119					0	0	0.004482	0	0
IGHM	3507	broad.mit.edu	37	14	106320571	106320571	+	RNA	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr14:106320571G>C	ENST00000390559.2	-	0	1238																											GGGCCACCACGCAGGTGTAGG	0.647000													12	55					0	0	0.010729	0	0
RYR1	6261	broad.mit.edu	37	19	39019689	39019689	+	Silent	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr19:39019689G>C	ENST00000355481.4	+	75	11249	c.11118G>C	c.(11116-11118)acG>acC	p.T3706T	RYR1_ENST00000360985.3_Silent_p.T3711T|RYR1_ENST00000359596.3_Silent_p.T3711T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3711					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.T3711T(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGCCCTGACGGAAAAGAGGT	0.632000													3	46					0	0	0.009096	0	0
DSC1	1823	broad.mit.edu	37	18	28714068	28714068	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr18:28714068C>T	ENST00000257197.3	-	13	2163	c.1902G>A	c.(1900-1902)cgG>cgA	p.R634R	DSC1_ENST00000257198.5_Silent_p.R634R|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	634	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CAAGATTTTGCCGTTGACGAA	0.343000													4	97					0	0	0.009096	0	0
AKAP4	8852	broad.mit.edu	37	X	49958059	49958059	+	Silent	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:49958059T>A	ENST00000376056.2	-	5	1428	c.1278A>T	c.(1276-1278)atA>atT	p.I426I	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Silent_p.I435I|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Silent_p.I426I			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	435					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	p.I435I(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TCTCCTCACCTATAAGGGCAC	0.453000													23	199					0	0	0.002780	0	0
RBM47	54502	broad.mit.edu	37	4	40434729	40434729	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr4:40434729G>A	ENST00000319592.4	-	5	1983	c.1274C>T	c.(1273-1275)gCc>gTc	p.A425V	RBM47_ENST00000295971.7_Missense_Mutation_p.A494V|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000381795.6_Missense_Mutation_p.A425V|RBM47_ENST00000381793.2_Missense_Mutation_p.A494V|RBM47_ENST00000514014.1_Missense_Mutation_p.A456V			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	494						nucleus	nucleotide binding|RNA binding	p.A425V(2)|p.A494V(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						tgcggccgcggctgcggcggc	0.577000													6	47					0	0	0.010729	0	0
DOCK2	1794	broad.mit.edu	37	5	169111325	169111325	+	Silent	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr5:169111325C>G	ENST00000256935.8	+	8	812	c.732C>G	c.(730-732)ctC>ctG	p.L244L		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	244					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.L244L(2)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATGTCTCTCTACGACCCCA	0.488000													19	211					0	0	0.006122	0	0
MTOR	2475	broad.mit.edu	37	1	11184600	11184600	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:11184600T>C	ENST00000361445.4	-	47	6693	c.6617A>G	c.(6616-6618)aAc>aGc	p.N2206S	MTOR_ENST00000376838.1_Missense_Mutation_p.N411S	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2206	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.N2206S(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CAGAAGGGTGTTAACCAGGCC	0.463000													11	89					0	0	0.008291	0	0
TNN	63923	broad.mit.edu	37	1	175116129	175116129	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:175116129C>G	ENST00000239462.4	+	19	3935	c.3822C>G	c.(3820-3822)atC>atG	p.I1274M		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1274	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.I1274M(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGTTGAAAATCCGCCCTCATG	0.527000											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	112					0	0	0.003080	0	0
TAF4	6874	broad.mit.edu	37	20	60587990	60587990	+	Splice_Site	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr20:60587990C>A	ENST00000252996.3	-	3	1521	c.1521_splice	c.e3-1	p.A508_splice		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	508					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.A508S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GTTCCAGGTGCCTGAAAAATA	0.478000													14	107					2.32078e-09	2.90098e-09	0.003163	1	0
CLCA1	1179	broad.mit.edu	37	1	86952236	86952236	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:86952236C>G	ENST00000234701.3	+	8	1333	c.982C>G	c.(982-984)Caa>Gaa	p.Q328E	CLCA1_ENST00000394711.1_Missense_Mutation_p.Q328E			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	328	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TCGACTGAATCAAGCAGGCCA	0.453000													3	132					0	0	0.004672	0	0
SYP	6855	broad.mit.edu	37	X	49047927	49047927	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:49047927C>G	ENST00000263233.4	-	6	981	c.909G>C	c.(907-909)caG>caC	p.Q303H	SYP_ENST00000538567.1_Missense_Mutation_p.Q185H|SYP_ENST00000479808.1_Missense_Mutation_p.Q303H	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	303	Repeats, Gly-rich.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity	p.Q303H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				TGGGTGCACCCTGCGGGCCGT	0.647000													4	39					0	0	0.000602	0	0
UBOX5	22888	broad.mit.edu	37	20	3102775	3102775	+	Silent	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr20:3102775C>A	ENST00000217173.2	-	3	981	c.510G>T	c.(508-510)gtG>gtT	p.V170V	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Silent_p.V170V	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1	O94941	RNF37_HUMAN	U-box domain containing 5	170						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.V170V(1)		endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						TTAAGTGGGCCACGTGGCTAA	0.607000													15	136					4.7546e-09	5.89923e-09	0.004007	1	0
PSMD13	5719	broad.mit.edu	37	11	248958	248958	+	Silent	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr11:248958G>C	ENST00000532097.1	+	9	1179	c.675G>C	c.(673-675)ctG>ctC	p.L225L	PSMD13_ENST00000352303.5_Silent_p.L225L|PSMD13_ENST00000431206.2_Silent_p.L227L	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 13	225					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		TGGAGTCCCTGAGGAATACTG	0.542000													3	140					0	0	0.004672	0	0
TRPV3	162514	broad.mit.edu	37	17	3436156	3436156	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr17:3436156G>T	ENST00000301365.4	-	8	991	c.860C>A	c.(859-861)aCg>aAg	p.T287K	TRPV3_ENST00000572519.1_Missense_Mutation_p.T287K|TRPV3_ENST00000576742.1_Missense_Mutation_p.T287K			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	287						integral to membrane	calcium channel activity	p.T287K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GGTGATGTCCGTCTGCTCGTG	0.607000													13	80					5.50884e-06	6.23466e-06	0.013537	1	0
POTEF	728378	broad.mit.edu	37	2	130832530	130832530	+	Missense_Mutation	SNP	C	C	A	rs2599795		TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr2:130832530C>A	ENST00000357462.5	-	15	2608	c.2515G>T	c.(2515-2517)Gtg>Ttg	p.V839L	POTEF_ENST00000409914.2_Missense_Mutation_p.V839L			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	839	Actin-like.					cell cortex	ATP binding	p.V839L(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGGGACAGCACAGCCTGGATG	0.592000													11	147					3.27435e-08	3.93157e-08	0.002450	1	0
SEMA3C	10512	broad.mit.edu	37	7	80418660	80418660	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr7:80418660G>T	ENST00000265361.3	-	12	1877	c.1316C>A	c.(1315-1317)gCt>gAt	p.A439D	SEMA3C_ENST00000544525.1_Missense_Mutation_p.A457D|SEMA3C_ENST00000419255.2_Missense_Mutation_p.A439D	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	439	Sema.				immune response|response to drug	membrane	receptor activity	p.A439D(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCCATCAGCAGCGTTCACTCG	0.393000													12	160					3.27435e-08	3.93157e-08	0.002450	1	0
ADAM12	8038	broad.mit.edu	37	10	127708376	127708376	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr10:127708376G>T	ENST00000368679.4	-	22	2866	c.2557C>A	c.(2557-2559)Ccc>Acc	p.P853T		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	853					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	p.P853T(2)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TTCTGAGGGGGGTTTGGCTTA	0.612000													8	54					2.74318e-10	3.52094e-10	0.006214	1	0
ADAMTS4	9507	broad.mit.edu	37	1	161163558	161163558	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:161163558C>T	ENST00000367996.4	-	6	2035	c.1607G>A	c.(1606-1608)tGt>tAt	p.C536Y		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	536	TSP type-1.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	p.C536Y(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ACCACCCCCACAGGTCCGAGA	0.632000													12	131					0	0	0.013537	0	0
ZNF135	7694	broad.mit.edu	37	19	58578646	58578646	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr19:58578646C>A	ENST00000506786.1	+	5	1222	c.668C>A	c.(667-669)aCt>aAt	p.T223N	ZNF135_ENST00000401053.4_Missense_Mutation_p.T289N|ZNF135_ENST00000511556.1_Missense_Mutation_p.T277N|ZNF135_ENST00000439855.2_Missense_Mutation_p.T265N|ZNF135_ENST00000359978.6_Missense_Mutation_p.T277N|ZNF135_ENST00000313434.5_Missense_Mutation_p.T265N			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	277					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.T289N(1)|p.T265N(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGAATCCATACTGGGGAGAAA	0.512000													27	187					7.92952e-12	1.03361e-11	0.003954	1	0
OR52B6	340980	broad.mit.edu	37	11	5602592	5602592	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr11:5602592G>C	ENST00000345043.2	+	1	486	c.486G>C	c.(484-486)aaG>aaC	p.K162N	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATTGGGAAGATCGTCACTG	0.512000													4	372					0	0	0.009096	0	0
MED12	9968	broad.mit.edu	37	X	70340930	70340930	+	Silent	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:70340930C>A	ENST00000333646.6	+	5	862	c.663C>A	c.(661-663)ccC>ccA	p.P221P	MED12_ENST00000374102.1_Silent_p.P221P|MED12_ENST00000374080.3_Silent_p.P221P	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	221					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.P221P(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CGATAGGGCCCTTGCCCCATG	0.552000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						18	170					5.01169e-05	5.50465e-05	0.004990	1	0
ABHD2	11057	broad.mit.edu	37	15	89734318	89734318	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr15:89734318C>T	ENST00000352732.5	+	9	1454	c.934C>T	c.(934-936)Cac>Tac	p.H312Y	ABHD2_ENST00000565973.1_Missense_Mutation_p.H312Y|ABHD2_ENST00000355100.3_Missense_Mutation_p.H312Y	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	312						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					CAGGAAGTTTCACGGCTATAA	0.468000													4	91					0	0	0.009096	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174781003	174781003	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:174781003G>A	ENST00000489615.1	+	2	603	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	RABGAP1L_ENST00000325589.5_Missense_Mutation_p.E56K|RABGAP1L_ENST00000367687.1_Missense_Mutation_p.E75K|RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000251507.4_Missense_Mutation_p.E749K|RABGAP1L_ENST00000347255.2_Missense_Mutation_p.E76K	NM_001243765.1	NP_001230694.1	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	749					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	p.E749K(1)|p.E76K(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GGCTGATTTTGAAGGTGCTTT	0.383000													4	52					0	0	0.009096	0	0
OR5L2	26338	broad.mit.edu	37	11	55595148	55595148	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr11:55595148G>T	ENST00000378397.1	+	1	454	c.454G>T	c.(454-456)Ggg>Tgg	p.G152W		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G152W(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTACTTCTGTGGGACGGTGTG	0.502000										HNSCC(27;0.073)			31	210					6.38683e-12	8.39054e-12	0.008361	1	0
INPP5D	3635	broad.mit.edu	37	2	234072375	234072375	+	Silent	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr2:234072375G>A	ENST00000359570.5	+	14	1227	c.1227G>A	c.(1225-1227)aaG>aaA	p.K409K	INPP5D_ENST00000450745.1_Silent_p.K173K|INPP5D_ENST00000538935.1_Silent_p.K408K|INPP5D_ENST00000455936.2_Silent_p.K173K			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	421					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	p.K421K(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CTCCCAAGAAGATCACGTCCT	0.537000													9	265					0	0	0.008291	0	0
TRPC3	7222	broad.mit.edu	37	4	122853827	122853827	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr4:122853827T>A	ENST00000264811.5	-	1	785	c.367A>T	c.(367-369)Aac>Tac	p.N123Y	TRPC3_ENST00000379645.3_Missense_Mutation_p.N196Y|TRPC3_ENST00000513531.1_Missense_Mutation_p.N123Y	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	111					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	p.N123Y(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCAGGGTGGTTGAGGATGGCC	0.642000													5	63					0	0	0.000602	0	0
NXF5	55998	broad.mit.edu	37	X	101092628	101092628	+	Splice_Site	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:101092628T>A	ENST00000537026.1	-	15	1279		c.e15-2		NXF5_ENST00000361708.2_Splice_Site|NXF5_ENST00000473265.2_Splice_Site	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5						mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.?(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TCTGCAGGTCTATAGAGAAGA	0.532000													29	178					0	0	0.006320	0	0
KIF4B	285643	broad.mit.edu	37	5	154397003	154397003	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr5:154397003C>T	ENST00000435029.4	+	1	3744	c.3584C>T	c.(3583-3585)tCg>tTg	p.S1195L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1195	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.S1195L(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCCCAGAGTCGAAACATGGA	0.512000													8	65					0	0	0.003080	0	0
PJA1	64219	broad.mit.edu	37	X	68381829	68381829	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:68381829C>A	ENST00000361478.1	-	2	1630	c.1253G>T	c.(1252-1254)gGc>gTc	p.G418V	PJA1_ENST00000374571.4_Missense_Mutation_p.G363V|PJA1_ENST00000374583.1_Missense_Mutation_p.G418V|PJA1_ENST00000374584.3_Missense_Mutation_p.G230V	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	418							zinc ion binding	p.G418V(1)|p.G230V(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						AGCACCGGGGCCAGGGCTGGT	0.622000													15	139					6.94344e-10	8.84431e-10	0.006122	1	0
CATSPERG	57828	broad.mit.edu	37	19	38853047	38853047	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr19:38853047G>A	ENST00000409235.3	+	19	2304	c.2189G>A	c.(2188-2190)cGa>cAa	p.R730Q	AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.R690Q	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	730					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.R370Q(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						AGCAATTGGCGAAGCGCGGGC	0.632000													5	122					0	0	0.001168	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378488	114378488	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr6:114378488C>T	ENST00000312719.5	-	5	2162	c.974G>A	c.(973-975)cGc>cAc	p.R325H	HS3ST5_ENST00000411826.1_Missense_Mutation_p.R325H|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	325					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	p.R325H(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		AAAGAATTTGCGCAATTTAGT	0.408000													21	164					0	0	0.012319	0	0
COL25A1	84570	broad.mit.edu	37	4	109841756	109841756	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr4:109841756G>A	ENST00000399132.1	-	12	1243	c.713C>T	c.(712-714)cCt>cTt	p.P238L	COL25A1_ENST00000399126.1_Missense_Mutation_p.P238L|COL25A1_ENST00000399127.1_Missense_Mutation_p.P234L	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	238	Collagen-like 2.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.P238L(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AGGCCCTAGAGGACCCTAAAA	0.358000													10	63					0	0	0.008291	0	0
CCNG1	900	broad.mit.edu	37	5	162866386	162866386	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr5:162866386G>A	ENST00000340828.2	+	2	348	c.124G>A	c.(124-126)Gat>Aat	p.D42N	CCNG1_ENST00000393929.1_Missense_Mutation_p.D42N|CCNG1_ENST00000510664.1_Intron|CCNG1_ENST00000511683.2_Intron|CCNG1_ENST00000512163.1_Intron	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	42					cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus		p.D42N(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		GTCTGCACACGATAATGGCCT	0.433000													6	123					0	0	0.001984	0	0
TOPORS	10210	broad.mit.edu	37	9	32541658	32541658	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr9:32541658T>C	ENST00000360538.2	-	3	2981	c.2865A>G	c.(2863-2865)atA>atG	p.I955M	TOPORS_ENST00000379858.1_Missense_Mutation_p.I890M	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	955					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	p.I955M(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ATTCAGCTTCTATTGTAACTA	0.383000													24	198					0	0	0.002780	0	0
NAGA	4668	broad.mit.edu	37	22	42461775	42461775	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr22:42461775C>T	ENST00000396398.3	-	6	1258	c.726G>A	c.(724-726)gtG>gtA	p.V242V	NAGA_ENST00000403363.1_Silent_p.V242V|NAGA_ENST00000402937.1_Silent_p.V242V	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	242					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	p.V242V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CAGGGCCGGCCACTGGCTGCA	0.602000													6	58					0	0	0.001984	0	0
ZNF800	168850	broad.mit.edu	37	7	127014855	127014855	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr7:127014855T>A	ENST00000393313.1	-	5	1126	c.535A>T	c.(535-537)Aaa>Taa	p.K179*	ZNF800_ENST00000265827.3_Nonsense_Mutation_p.K179*|ZNF800_ENST00000393312.1_Nonsense_Mutation_p.K179*			Q2TB10	ZN800_HUMAN	zinc finger protein 800	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K179*(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GGTACTGTTTTTGACTGTTCA	0.423000													14	112					0	0	0.003163	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802747	185802747	+	Nonsense_Mutation	SNP	T	T	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr2:185802747T>G	ENST00000302277.6	+	4	3218	c.2624T>G	c.(2623-2625)tTa>tGa	p.L875*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	875						intracellular	zinc ion binding	p.L875*(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACAAACCAATTAAGAAACAAA	0.358000													20	108					0	0	0.010504	0	0
OSBPL11	114885	broad.mit.edu	37	3	125279288	125279288	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr3:125279288C>T	ENST00000296220.5	-	8	1379	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	364					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CGTTGTTCTTCTACAGCTCCC	0.418000													4	182					0	0	0.009096	0	0
MAVS	57506	broad.mit.edu	37	20	3835373	3835373	+	Silent	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr20:3835373C>G	ENST00000428216.2	+	2	230	c.102C>G	c.(100-102)ctC>ctG	p.L34L	MAVS_ENST00000416600.2_5'UTR|MAVS_ENST00000358134.6_Silent_p.L34L	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	34	CARD.|Required for interaction with NLRX1.				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TGCCCTGCCTCACAGCAAGAG	0.522000													3	82					0	0	0.004672	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153909105	153909105	+	Silent	SNP	A	A	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr3:153909105A>G	ENST00000356448.4	+	8	1952	c.1668A>G	c.(1666-1668)gtA>gtG	p.V556V	ARHGEF26_ENST00000465093.1_Silent_p.V556V|ARHGEF26_ENST00000465817.1_Intron	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	556	DH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	p.V556V(3)		endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TTAAGGAAGTATTGTCAAGGA	0.418000													5	29					0	0	0.000602	0	0
MTAP	4507	broad.mit.edu	37	9	21837988	21837988	+	Silent	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr9:21837988G>A	ENST00000380172.4	+	5	635	c.429G>A	c.(427-429)ccG>ccA	p.P143P	MTAP_ENST00000460874.2_Silent_p.P160P|RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000580900.1_Silent_p.P143P	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN	methylthioadenosine phosphorylase	143					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	p.0(1)|p.0?(1)|p.P143P(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	TGGCTGAGCCGTTTTGCCCCA	0.458000													38	277					0	0	0.006999	0	0
ABLIM3	22885	broad.mit.edu	37	5	148617109	148617109	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr5:148617109T>A	ENST00000506113.1	+	10	1469	c.987T>A	c.(985-987)taT>taA	p.Y329*	ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000326685.7_Intron|ABLIM3_ENST00000309868.7_Nonsense_Mutation_p.Y329*|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000519549.1_3'UTR|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000508983.1_Nonsense_Mutation_p.Y329*|ABLIM3_ENST00000356541.3_Intron|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	329					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	p.Y329*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATTTCCTATGAGCCTCATT	0.493000													40	148					0	0	0.007835	0	0
TRPV5	56302	broad.mit.edu	37	7	142605804	142605804	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr7:142605804G>T	ENST00000265310.1	-	15	2414	c.2066C>A	c.(2065-2067)tCc>tAc	p.S689Y		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	689					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.S689Y(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CGCGGTCCGGGACAGGGAGGA	0.577000													10	123					3.86212e-05	4.27e-05	0.008291	1	0
PHLPP1	23239	broad.mit.edu	37	18	60646292	60646292	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr18:60646292C>T	ENST00000400316.4	+	17	5027	c.3246C>T	c.(3244-3246)ggC>ggT	p.G1082G	PHLPP1_ENST00000262719.5_Silent_p.G1594G	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1594					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	p.G1594G(2)|p.G1081G(1)		endometrium(2)|kidney(2)|lung(13)	17						GTGATGAGGGCATTGTCATCA	0.627000													10	30					0	0	0.008291	0	0
DCAF11	80344	broad.mit.edu	37	14	24586142	24586142	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr14:24586142G>T	ENST00000446197.3	+	3	899	c.172G>T	c.(172-174)Gtg>Ttg	p.V58L	DCAF11_ENST00000396936.1_5'UTR|DCAF11_ENST00000559115.1_Missense_Mutation_p.V58L|DCAF11_ENST00000560171.1_Intron|DCAF11_ENST00000396941.4_Intron	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	58						CUL4 RING ubiquitin ligase complex	protein binding	p.V58L(1)									AGTGAGGTTGGTGCAGGGAGG	0.498000													20	177					2.94398e-08	3.56041e-08	0.007413	1	0
FAAH	2166	broad.mit.edu	37	1	46871349	46871349	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:46871349C>T	ENST00000243167.8	+	5	752	c.668C>T	c.(667-669)gCc>gTc	p.A223V	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	223					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	p.A223V(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GGTGAAGGGGCCCTCATCGGG	0.642000													30	222					0	0	0.008361	0	0
SUSD5	26032	broad.mit.edu	37	3	33216515	33216515	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr3:33216515C>T	ENST00000309558.3	-	4	878	c.461G>A	c.(460-462)cGc>cAc	p.R154H		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	154	Sushi.				cell adhesion	integral to membrane	hyaluronic acid binding	p.R154H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAAGCCGGTGCGGCCCTGCAG	0.567000													7	61					0	0	0.001984	0	0
OR5M11	219487	broad.mit.edu	37	11	56310155	56310155	+	Silent	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr11:56310155G>C	ENST00000528616.2	-	1	602	c.579C>G	c.(577-579)gtC>gtG	p.V193V		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V193V(1)|p.V194V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CATGCTCTTTGACATAAGTAT	0.502000													5	45					0	0	0.001168	0	0
MTOR	2475	broad.mit.edu	37	1	11291433	11291433	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:11291433T>C	ENST00000361445.4	-	17	2649	c.2573A>G	c.(2572-2574)tAc>tGc	p.Y858C		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	858					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.Y858C(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GTACTTCCTGTAGGGCTCTAC	0.527000													30	209					0	0	0.007291	0	0
USH1G	124590	broad.mit.edu	37	17	72915997	72915997	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr17:72915997G>T	ENST00000319642.1	-	2	1116	c.934C>A	c.(934-936)Ctg>Atg	p.L312M		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	312					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		p.L312M(1)	HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					ATGGTGCCCAGGCCGGGGCGG	0.697000													14	210					4.14922e-12	5.47239e-12	0.004007	1	0
TAZ	6901	broad.mit.edu	37	X	153641823	153641823	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:153641823C>A	ENST00000299328.5	+	4	578	c.289C>A	c.(289-291)Cct>Act	p.P97T	TAZ_ENST00000369776.4_Missense_Mutation_p.P72T|TAZ_ENST00000369790.4_Missense_Mutation_p.P97T|TAZ_ENST00000350743.4_Missense_Mutation_p.P97T|TAZ_ENST00000351413.4_Missense_Mutation_p.P97T	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	97					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity	p.P97T(1)		lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTTAGGACCCCTGCAGCTGC	0.622000													10	149					7.03913e-09	8.66951e-09	0.013537	1	0
ENSA	2029	broad.mit.edu	37	1	150599975	150599975	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:150599975A>C	ENST00000271690.8	-	2	257	c.151T>G	c.(151-153)Tcc>Gcc	p.S51A	ENSA_ENST00000369009.3_Missense_Mutation_p.S51A|ENSA_ENST00000503345.1_Missense_Mutation_p.S51A|ENSA_ENST00000369014.5_Missense_Mutation_p.S51A|ENSA_ENST00000369016.4_Missense_Mutation_p.S51A|ENSA_ENST00000361532.5_Missense_Mutation_p.S47A|ENSA_ENST00000503241.1_Missense_Mutation_p.S51A|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000513281.1_Missense_Mutation_p.S47A|ENSA_ENST00000361631.5_Missense_Mutation_p.S47A|ENSA_ENST00000356527.5_Missense_Mutation_p.S51A|ENSA_ENST00000339643.5_Missense_Mutation_p.S51A|ENSA_ENST00000362052.7_Missense_Mutation_p.S51A	NM_207044.1	NP_996927.1	O43768	ENSA_HUMAN	endosulfine alpha	51					cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding	p.S51A(2)|p.S47A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGGAAGTCGGAGCCTCCAGGC	0.493000													13	117					0	0	0.001855	0	0
RASAL2	9462	broad.mit.edu	37	1	178421569	178421569	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:178421569G>C	ENST00000448150.3	+	11	2555	c.1737G>C	c.(1735-1737)ttG>ttC	p.L579F	RASAL2_ENST00000462775.1_Missense_Mutation_p.L449F|RASAL2_ENST00000367649.3_Missense_Mutation_p.L597F	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	449					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CTCGTGAGTTGAAAGAAGTGT	0.458000													3	141					0	0	0.004672	0	0
LPAR4	2846	broad.mit.edu	37	X	78010375	78010375	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:78010375C>A	ENST00000435339.2	+	2	414	c.9C>A	c.(7-9)gaC>gaA	p.D3E	LPAR4_ENST00000373301.2_Missense_Mutation_p.D3E|RP11-475D8.1_ENST00000514744.1_RNA	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	3						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.D3E(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CCATGGGTGACAGAAGATTCA	0.448000													11	81					3.86212e-05	4.27e-05	0.008291	1	0
C7	730	broad.mit.edu	37	5	40931182	40931182	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr5:40931182A>G	ENST00000313164.9	+	3	438	c.79A>G	c.(79-81)Aac>Gac	p.N27D		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	27	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.N27D(1)					Ovarian(839;0.0112)				CTCTCCAGTCAACTGCCAGTG	0.433000													4	44					0	0	0.000602	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42796705	42796705	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr6:42796705C>T	ENST00000314073.5	+	6	810	c.634C>T	c.(634-636)Caa>Taa	p.Q212*	GLTSCR1L_ENST00000394168.1_Nonsense_Mutation_p.Q212*					GLTSCR1-like									p.Q212*(1)									TGGTTCTGGTCAAATACAGTT	0.418000													30	273					0	0	0.008361	0	0
ZBED4	9889	broad.mit.edu	37	22	50277426	50277426	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr22:50277426G>C	ENST00000216268.4	+	2	593	c.116G>C	c.(115-117)aGa>aCa	p.R39T		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	39						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	p.R39T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGTTTGGAAAGAATGGACTTT	0.493000													10	312					0	0	0.010729	0	0
TOB2	10766	broad.mit.edu	37	22	41832839	41832839	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr22:41832839C>A	ENST00000327492.3	-	2	1217	c.511G>T	c.(511-513)Gct>Tct	p.A171S		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	171					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus		p.A171S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						ATGGGCTGAGCGGAGCGGGGA	0.622000													12	139					1.5842e-08	1.92984e-08	0.001855	1	0
OR5D16	390144	broad.mit.edu	37	11	55607016	55607016	+	Silent	SNP	A	A	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr11:55607016A>G	ENST00000378396.1	+	1	789	c.789A>G	c.(787-789)gtA>gtG	p.V263V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V263V(1)		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)				TCTACTGTGTACCCAACTCCA	0.522000													11	76					0	0	0.010729	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255900	140255900	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr5:140255900C>T	ENST00000398631.2	+	1	843	c.843C>T	c.(841-843)atC>atT	p.I281I	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.I281I(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTATGGGATCAAAATGATTT	0.358000													9	297					0	0	0.006214	0	0
PCNXL4	64430	broad.mit.edu	37	14	60574777	60574777	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr14:60574777G>C	ENST00000406854.1	+	2	975	c.421G>C	c.(421-423)Gtt>Ctt	p.V141L	PCNXL4_ENST00000404681.2_Missense_Mutation_p.V141L|PCNXL4_ENST00000391611.2_Missense_Mutation_p.V141L|PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000406949.1_Intron					pecanex-like 4 (Drosophila)									p.V141L(1)									AGCCAATACAGTTTTTCATTC	0.428000													5	53					0	0	0.000602	0	0
FUZ	80199	broad.mit.edu	37	19	50314903	50314903	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr19:50314903C>T	ENST00000313777.4	-	4	535	c.372G>A	c.(370-372)ctG>ctA	p.L124L	FUZ_ENST00000533418.1_Silent_p.L74L|FUZ_ENST00000526575.1_3'UTR|FUZ_ENST00000528094.1_Silent_p.L88L|FUZ_ENST00000445575.2_Silent_p.L124L|FUZ_ENST00000534008.1_5'UTR	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	124					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		p.L124L(1)		endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		AGTCCTTCTTCAGTCTCTCCA	0.537000													45	859					0	0	0.014410	0	0
PNN	5411	broad.mit.edu	37	14	39650414	39650414	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr14:39650414C>T	ENST00000216832.4	+	9	1568	c.1501C>T	c.(1501-1503)Cag>Tag	p.Q501*	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	501	Gln-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GCCTCCCTCTCAGCCTGAGGA	0.537000													4	160					0	0	0.009096	0	0
MRE11A	4361	broad.mit.edu	37	11	94209498	94209498	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr11:94209498C>A	ENST00000323929.3	-	7	838	c.616G>T	c.(616-618)Gat>Tat	p.D206Y	MRE11A_ENST00000323977.3_Missense_Mutation_p.D206Y|MRE11A_ENST00000540013.1_Missense_Mutation_p.D206Y|MRE11A_ENST00000407439.3_Missense_Mutation_p.D209Y|MRE11A_ENST00000393241.4_Missense_Mutation_p.D206Y	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	206					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	p.D206Y(2)		breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				GAGTTCTCATCTTCCTTTGGT	0.338000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				7	74					1.26484e-09	1.59895e-09	0.003080	1	0
MSR1	4481	broad.mit.edu	37	8	16032786	16032786	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr8:16032786G>T	ENST00000350896.3	-	3	324	c.127C>A	c.(127-129)Caa>Aaa	p.Q43K	MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Missense_Mutation_p.Q43K|MSR1_ENST00000262101.5_Missense_Mutation_p.Q43K|MSR1_ENST00000355282.2_Missense_Mutation_p.Q43K|MSR1_ENST00000445506.2_Missense_Mutation_p.Q61K	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	43					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.Q43K(2)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AGTTTCTCTTGAAGGGAAGGG	0.398000													4	49					0.00024832	0.000264927	0.009096	1	0
PRDM2	7799	broad.mit.edu	37	1	14105012	14105012	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:14105012C>A	ENST00000235372.7	+	8	1578	c.722C>A	c.(721-723)aCc>aAc	p.T241N	PRDM2_ENST00000343137.4_Missense_Mutation_p.T40N|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.T241N|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.T40N|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	241						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T241N(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAACTAGCAACCCCTGCCCCT	0.597000													10	133					1.3612e-06	1.58334e-06	0.003163	1	0
KCNJ3	3760	broad.mit.edu	37	2	155566153	155566153	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr2:155566153C>T	ENST00000295101.2	+	2	1218	c.741C>T	c.(739-741)gaC>gaT	p.D247D	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_Intron	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	247					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.D247D(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TTCCCCTTGACCAACTTGAAC	0.468000													7	69					0	0	0.001984	0	0
UBAP2	55833	broad.mit.edu	37	9	33948372	33948372	+	Splice_Site	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr9:33948372C>A	ENST00000379238.1	-	13	1387	c.1270_splice	c.e13+1	p.D424_splice	UBAP2_ENST00000379225.1_Splice_Site_p.D57_splice|UBAP2_ENST00000418786.2_Splice_Site_p.D371_splice|UBAP2_ENST00000379239.4_Splice_Site_p.D157_splice|UBAP2_ENST00000539807.1_Splice_Site_p.D179_splice|UBAP2_ENST00000360802.1_Splice_Site_p.D424_splice|UBAP2_ENST00000449054.1_Splice_Site_p.D424_splice			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	424								p.D424Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GTATACCTACCAAGATGACTG	0.473000													21	166					2.37509e-13	3.16994e-13	0.010504	1	0
GPRC6A	222545	broad.mit.edu	37	6	117130667	117130667	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr6:117130667C>A	ENST00000310357.3	-	2	329	c.308G>T	c.(307-309)tGt>tTt	p.C103F	GPRC6A_ENST00000368549.3_Missense_Mutation_p.C103F|GPRC6A_ENST00000530250.1_Missense_Mutation_p.C103F	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	103					response to amino acid stimulus		G-protein coupled receptor activity	p.C103F(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GACTTCTGTACAAGTGTCATA	0.413000													4	28					0.00909568	0.00940448	0.009096	1	0
CDH10	1008	broad.mit.edu	37	5	24487847	24487847	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr5:24487847G>C	ENST00000264463.4	-	12	2799	c.2292C>G	c.(2290-2292)taC>taG	p.Y764*	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	764					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y764*(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATTCTCGGAGGTAATCGTAGT	0.418000										HNSCC(23;0.051)			53	185					0	0	0.014410	0	0
FER1L6	654463	broad.mit.edu	37	8	125061956	125061956	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr8:125061956C>G	ENST00000522917.1	+	22	3039	c.2833C>G	c.(2833-2835)Ctc>Gtc	p.L945V	FER1L6_ENST00000399018.1_Missense_Mutation_p.L945V|FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	945						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTGTGGGAATCTCTCTGGAGG	0.522000													3	185					0	0	0.004672	0	0
MAP7	9053	broad.mit.edu	37	6	136710623	136710623	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr6:136710623C>G	ENST00000354570.3	-	4	687	c.277G>C	c.(277-279)Gag>Cag	p.E93Q	MAP7_ENST00000454590.1_Missense_Mutation_p.E115Q|MAP7_ENST00000544465.1_Missense_Mutation_p.E78Q|MAP7_ENST00000438100.2_Missense_Mutation_p.E115Q|MAP7_ENST00000432797.2_5'UTR	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	93					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	p.E93Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTGGCTCGCTCTTCTCTTTCT	0.488000													5	164					0	0	0.001168	0	0
CELF1	10658	broad.mit.edu	37	11	47510459	47510459	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr11:47510459G>C	ENST00000395290.2	-	1	117	c.108C>G	c.(106-108)ttC>ttG	p.F36L	CELF1_ENST00000531165.1_Missense_Mutation_p.F63L|CELF1_ENST00000310513.5_Missense_Mutation_p.F36L|CELF1_ENST00000361904.3_Missense_Mutation_p.F36L|CELF1_ENST00000395292.2_Missense_Mutation_p.F36L|CELF1_ENST00000532048.1_Missense_Mutation_p.F63L|CELF1_ENST00000358597.3_Missense_Mutation_p.F36L	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	36	RRM 1.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	p.F36L(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CATACTGTTCGAAGAGTTCCC	0.493000													17	179					0	0	0.004990	0	0
PSG4	5672	broad.mit.edu	37	19	43708039	43708039	+	Splice_Site	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr19:43708039G>T	ENST00000405312.3	-	2	666	c.430_splice	c.e2+1	p.H143_splice	PSG4_ENST00000244295.9_Splice_Site_p.H143_splice|PSG4_ENST00000433626.2_Splice_Site_p.H143_splice	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	143	Ig-like V-type.				defense response|female pregnancy	extracellular region		p.H143Q(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ATCACTCACGGTGTAAGGTGA	0.527000													57	316					1.16596e-39	1.64116e-39	0.014410	1	0
MYH13	8735	broad.mit.edu	37	17	10209847	10209847	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr17:10209847G>T	ENST00000418404.3	-	36	5558	c.5395C>A	c.(5395-5397)Cac>Aac	p.H1799N	MYH13_ENST00000570743.1_Missense_Mutation_p.H1799N|MYH13_ENST00000252172.4_Missense_Mutation_p.H1799N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1799					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.H1799N(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTAGACGGTGCTGCAGGTCC	0.557000													33	264					2.47316e-13	3.28773e-13	0.003271	1	0
FAM135B	51059	broad.mit.edu	37	8	139153491	139153491	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr8:139153491G>C	ENST00000395297.1	-	17	3910	c.3740C>G	c.(3739-3741)tCt>tGt	p.S1247C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1247								p.S1247C(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTGAGGCCCAGAGAGTGACAG	0.512000										HNSCC(54;0.14)			4	111					0	0	0.000602	0	0
TTC39B	158219	broad.mit.edu	37	9	15192686	15192686	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr9:15192686G>C	ENST00000355694.2	-	9	868	c.634C>G	c.(634-636)Ctt>Gtt	p.L212V	TTC39B_ENST00000507285.1_Missense_Mutation_p.L113V|TTC39B_ENST00000541445.1_Missense_Mutation_p.S190C|TTC39B_ENST00000380850.4_Missense_Mutation_p.L278V|TTC39B_ENST00000297615.5_Missense_Mutation_p.L209V|TTC39B_ENST00000512701.1_Missense_Mutation_p.L278V|TTC39B_ENST00000507993.1_Missense_Mutation_p.L113V	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	212							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						AGGATAGAAAGACATTCTCTG	0.348000													3	80					0	0	0.000602	0	0
TSPYL4	23270	broad.mit.edu	37	6	116574053	116574053	+	Silent	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr6:116574053G>A	ENST00000420283.1	-	1	1208	c.1119C>T	c.(1117-1119)atC>atT	p.I373I		NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	373					nucleosome assembly	nucleus		p.I373I(1)		endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		GTTCTCCTTTGATAATCTCTG	0.507000													5	17					0	0	0.000602	0	0
BHLHE40	8553	broad.mit.edu	37	3	5024760	5024760	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr3:5024760C>G	ENST00000256495.3	+	5	1225	c.622C>G	c.(622-624)Ccg>Gcg	p.P208A		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	208						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						ACCCAGCTCTCCGGCCAAAGG	0.607000													5	89					0	0	0.000602	0	0
POU2F1	5451	broad.mit.edu	37	1	167367290	167367290	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:167367290G>C	ENST00000367862.5	+	11	1391	c.1156G>C	c.(1156-1158)Gag>Cag	p.E386Q	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Missense_Mutation_p.E374Q|POU2F1_ENST00000541643.3_Missense_Mutation_p.E374Q|POU2F1_ENST00000367866.2_Missense_Mutation_p.E397Q|POU2F1_ENST00000429375.2_Missense_Mutation_p.E334Q	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	374					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TCCAGGAATTGAGGGCTTGAG	0.458000													3	82					0	0	0.004672	0	0
LRP1B	53353	broad.mit.edu	37	2	141260575	141260575	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr2:141260575G>T	ENST00000389484.3	-	54	9590	c.8619C>A	c.(8617-8619)gaC>gaA	p.D2873E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2873	LDL-receptor class A 19.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D2873_H2874>EN(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATCAGAATGGTCAGGACAGT	0.388000										TSP Lung(27;0.18)			6	56					0.00116845	0.00122705	0.001168	1	0
TRIM33	51592	broad.mit.edu	37	1	114969875	114969875	+	Silent	SNP	A	A	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:114969875A>G	ENST00000358465.2	-	8	1427	c.1344T>C	c.(1342-1344)gaT>gaC	p.D448D	TRIM33_ENST00000450349.2_Silent_p.D56D|TRIM33_ENST00000369543.2_Silent_p.D448D	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	448					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	p.D448D(1)		breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGGGACAGGATCACACCGTG	0.358000			T	RET	papillary thyroid								7	108					0	0	0.001984	0	0
SPANXN5	494197	broad.mit.edu	37	X	52825631	52825631	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:52825631C>T	ENST00000375511.3	-	2	868	c.116G>A	c.(115-117)aGt>aAt	p.S39N		NM_001009616.2	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	39								p.S39N(1)		large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					CTTTTTCAAACTCGGTTCGAG	0.393000													15	165					0	0	0.003163	0	0
CNOT2	4848	broad.mit.edu	37	12	70747665	70747665	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr12:70747665C>T	ENST00000551483.1	+	7	4701	c.546C>T	c.(544-546)ttC>ttT	p.F182F	CNOT2_ENST00000229195.3_Silent_p.F531F|CNOT2_ENST00000418359.3_Silent_p.F531F			Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	531					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	p.F531F(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CATCCACCTTCAACTACAACC	0.368000													6	81					0	0	0.001168	0	0
OR2A14	135941	broad.mit.edu	37	7	143826479	143826479	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr7:143826479T>A	ENST00000408899.2	+	1	329	c.274T>A	c.(274-276)Tcc>Acc	p.S92T		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S92T(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AAGCACCATCTCCTTTTTTCC	0.438000													52	476					0	0	0.014410	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186925385	186925385	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:186925385G>C	ENST00000367466.3	+	14	1640	c.1488G>C	c.(1486-1488)ttG>ttC	p.L496F	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.L436F	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	496	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TGCTGGGCTTGAATCTCAATA	0.443000													4	214					0	0	0.009096	0	0
FBN2	2201	broad.mit.edu	37	5	127614468	127614468	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr5:127614468G>T	ENST00000508053.1	-	63	8178	c.7204C>A	c.(7204-7206)Cgc>Agc	p.R2402S	FBN2_ENST00000262464.4_Missense_Mutation_p.R2402S			P35556	FBN2_HUMAN	fibrillin 2	2402	TB 9.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.R2402S(2)|p.R2402C(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACGAGATTGCGACTACTGGAT	0.507000													4	66					0.00909568	0.00940448	0.009096	1	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858749	149858749	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:149858749G>C	ENST00000331380.2	+	1	225	c.225G>C	c.(223-225)aaG>aaC	p.K75N		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	75					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGGACAACAAGAAGACGCGCA	0.667000													3	108					0	0	0.004672	0	0
ZNF667	63934	broad.mit.edu	37	19	56952614	56952614	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr19:56952614C>G	ENST00000504904.3	-	7	2469	c.1750G>C	c.(1750-1752)Gaa>Caa	p.E584Q	ZNF667_ENST00000342634.3_Missense_Mutation_p.E712Q|ZNF667_ENST00000292069.6_Missense_Mutation_p.E584Q|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E584Q(1)		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)		TTACTACATTCATAGGGTTTC	0.393000													10	162					0	0	0.008291	0	0
ZNF407	55628	broad.mit.edu	37	18	72775242	72775242	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr18:72775242G>T	ENST00000299687.5	+	8	5565	c.5565G>T	c.(5563-5565)agG>agT	p.R1855S		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1855					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R1855S(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCAGCAGGAGGCCAGCGCCGC	0.672000													21	156					3.6726e-16	5.00131e-16	0.003954	1	0
DARS2	55157	broad.mit.edu	37	1	173822600	173822600	+	Silent	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:173822600C>G	ENST00000361951.4	+	14	2185	c.1458C>G	c.(1456-1458)ctC>ctG	p.L486L	DARS2_ENST00000239457.5_Silent_p.L68L|DARS2_ENST00000471476.1_3'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	486					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	p.L486L(1)		breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	ATTTCCCACTCTTCCTGCCCA	0.522000													21	153					0	0	0.008871	0	0
EXPH5	23086	broad.mit.edu	37	11	108381132	108381132	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr11:108381132T>A	ENST00000265843.4	-	6	5212	c.5102A>T	c.(5101-5103)aAt>aTt	p.N1701I	EXPH5_ENST00000428840.1_Missense_Mutation_p.N1625I|EXPH5_ENST00000443411.1_Missense_Mutation_p.N1513I|EXPH5_ENST00000525344.1_Missense_Mutation_p.N1694I	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1701					intracellular protein transport		Rab GTPase binding	p.N1701I(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTTAAACTCATTCTGATGTCG	0.433000													35	289					0	0	0.013726	0	0
MBTPS2	51360	broad.mit.edu	37	X	21887672	21887672	+	Silent	SNP	A	A	G	rs144578691	byFrequency	TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:21887672A>G	ENST00000365779.2	+	7	927	c.846A>G	c.(844-846)ctA>ctG	p.L282L	MBTPS2_ENST00000379484.5_Silent_p.L282L			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	282					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	p.L282L(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						TCACCCATCTACAGGATTGTC	0.433000													11	153					0	0	0.010729	0	0
JPH1	56704	broad.mit.edu	37	8	75227505	75227505	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr8:75227505C>T	ENST00000342232.4	-	2	770	c.730G>A	c.(730-732)Gcc>Acc	p.A244T		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	244	Ser-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CTGCTCATGGCCGCGTCGCTG	0.562000													4	152					0	0	0.009096	0	0
MPRIP	23164	broad.mit.edu	37	17	17053516	17053516	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr17:17053516C>G	ENST00000395811.5	+	12	1423	c.1334C>G	c.(1333-1335)cCa>cGa	p.P445R	MPRIP_ENST00000444976.1_Missense_Mutation_p.P407R|MPRIP_ENST00000395804.3_Missense_Mutation_p.P445R|MPRIP_ENST00000341712.4_Missense_Mutation_p.P445R	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	445	PH 2.					cytoplasm|cytoskeleton	actin binding	p.P445R(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						ACAGAGTATCCAGTTCAGAGA	0.493000													5	204					0	0	0.000602	0	0
SEC24D	9871	broad.mit.edu	37	4	119745815	119745815	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr4:119745815C>A	ENST00000379735.5	-	3	479	c.208G>T	c.(208-210)Ggt>Tgt	p.G70C	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.G70C	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	70	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	p.G70C(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CCATTCTGACCAAACTGATGG	0.527000													22	290					8.10497e-08	9.69702e-08	0.010504	1	0
DST	667	broad.mit.edu	37	6	56382331	56382331	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr6:56382331C>G	ENST00000370754.5	-	70	18123	c.18124G>C	c.(18124-18126)Gac>Cac	p.D6042H	DST_ENST00000370788.2_Missense_Mutation_p.D3667H|DST_ENST00000446842.2_Missense_Mutation_p.D5538H|DST_ENST00000244364.6_Missense_Mutation_p.D3450H|DST_ENST00000421834.2_Missense_Mutation_p.D3776H|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.D5753H|DST_ENST00000340834.4_5'UTR|DST_ENST00000370769.4_Missense_Mutation_p.D5864H			Q03001	DYST_HUMAN	dystonin	5862					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.D3450H(1)|p.D5864H(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAAGTCTGGTCTTGCTCAAGC	0.388000													3	22					0	0	0.004672	0	0
PLEC	5339	broad.mit.edu	37	8	144991151	144991151	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr8:144991151C>T	ENST00000322810.4	-	32	13418	c.13249G>A	c.(13249-13251)Gtg>Atg	p.V4417M	PLEC_ENST00000398774.2_Missense_Mutation_p.V4248M|PLEC_ENST00000527096.1_Missense_Mutation_p.V4303M|PLEC_ENST00000357649.2_Missense_Mutation_p.V4284M|PLEC_ENST00000345136.3_Missense_Mutation_p.V4280M|PLEC_ENST00000436759.2_Missense_Mutation_p.V4307M|PLEC_ENST00000356346.3_Missense_Mutation_p.V4266M|PLEC_ENST00000354589.3_Missense_Mutation_p.V4280M|PLEC_ENST00000354958.2_Missense_Mutation_p.V4258M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4417	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.V4307M(1)|p.V4280M(1)|p.V4417M(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATGCCAGCCACGGGGCCCGTC	0.662000													15	58					0	0	0.007413	0	0
SYT9	143425	broad.mit.edu	37	11	7335004	7335004	+	Silent	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr11:7335004G>T	ENST00000318881.6	+	3	1113	c.876G>T	c.(874-876)ccG>ccT	p.P292P	SYT9_ENST00000396716.2_Silent_p.P260P	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	292	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.P292P(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TTTTATTTCCGGTTCCCTACA	0.438000													41	311					1.15183e-24	1.60777e-24	0.009718	1	0
EIF4G3	8672	broad.mit.edu	37	1	21268737	21268737	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:21268737C>A	ENST00000536266.1	-	0	244				EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000400422.1_Missense_Mutation_p.G248C|EIF4G3_ENST00000356916.3_Missense_Mutation_p.G259C|EIF4G3_ENST00000374927.4_Missense_Mutation_p.G248C|EIF4G3_ENST00000602326.1_Missense_Mutation_p.G254C|EIF4G3_ENST00000374937.3_Missense_Mutation_p.G254C|EIF4G3_ENST00000264211.8_Missense_Mutation_p.G248C			O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3						interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	p.G254C(1)|p.G248C(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GATGTCTGGCCTTCTTGTTCT	0.463000													13	118					2.61681e-11	3.3978e-11	0.002450	1	0
ETV6	2120	broad.mit.edu	37	12	12038881	12038881	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr12:12038881G>A	ENST00000396373.4	+	7	1448	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	392						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E392K(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CATGACCTATGAGAAAATGTC	0.438000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								11	155					0	0	0.010729	0	0
CMTR2	55783	broad.mit.edu	37	16	71318373	71318373	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr16:71318373C>G	ENST00000338099.5	-	3	1787	c.1451G>C	c.(1450-1452)gGa>gCa	p.G484A	FTSJD1_ENST00000434935.2_Missense_Mutation_p.G484A			Q8IYT2	FTSJ1_HUMAN		484						integral to membrane	methyltransferase activity|nucleic acid binding	p.G484A(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGAAGCTGTTCCTTCTAAAAT	0.373000													14	107					0	0	0.003163	0	0
SLC4A7	9497	broad.mit.edu	37	3	27462219	27462219	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr3:27462219C>A	ENST00000295736.5	-	10	1527	c.1457G>T	c.(1456-1458)cGa>cTa	p.R486L	SLC4A7_ENST00000425128.2_Missense_Mutation_p.R478L|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R478L|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R482L|SLC4A7_ENST00000454389.1_Missense_Mutation_p.R495L|SLC4A7_ENST00000437179.1_Missense_Mutation_p.R367L|SLC4A7_ENST00000388777.4_Missense_Mutation_p.R36L|SLC4A7_ENST00000455077.1_Missense_Mutation_p.R367L|SLC4A7_ENST00000435667.2_Missense_Mutation_p.R371L|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R482L|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R362L	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	486						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.R486L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GGCTATTGATCGTCCAATTTC	0.348000													7	53					1.12685e-05	1.25832e-05	0.004482	1	0
LILRA2	11027	broad.mit.edu	37	19	55086420	55086420	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr19:55086420C>T	ENST00000251377.3	+	5	708	c.575C>T	c.(574-576)tCg>tTg	p.S192L	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.S192L|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S180L|LILRA2_ENST00000251376.3_Missense_Mutation_p.S192L|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.S192L(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CGCAGGTGGTCGTACAGGTGC	0.572000													21	183					0	0	0.008871	0	0
SEMA5A	9037	broad.mit.edu	37	5	9066574	9066574	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr5:9066574C>A	ENST00000382496.5	-	17	2923	c.2258G>T	c.(2257-2259)cGg>cTg	p.R753L		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	753	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.R753L(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGAACAGTACCGCATTTCGAT	0.537000													39	211					6.31075e-24	8.77221e-24	0.014410	1	0
CACNA2D1	781	broad.mit.edu	37	7	81626548	81626548	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr7:81626548G>T	ENST00000356860.3	-	19	1947	c.1609C>A	c.(1609-1611)Cca>Aca	p.P537T	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.P556T	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	556	Cache.					voltage-gated calcium channel complex	metal ion binding	p.P537T(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AATGTTACTGGCTCCTGAGAT	0.358000													8	72					1.12685e-05	1.25832e-05	0.004482	1	0
TTLL2	83887	broad.mit.edu	37	6	167753646	167753646	+	Silent	SNP	G	G	T	rs150930685		TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr6:167753646G>T	ENST00000239587.5	+	3	346	c.258G>T	c.(256-258)ccG>ccT	p.P86P		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	86	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.P86P(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TCTTGAAGCCGCTGGTTTTTC	0.512000													17	93					7.45023e-12	9.74932e-12	0.010504	1	0
RBBP5	5929	broad.mit.edu	37	1	205065903	205065903	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:205065903C>A	ENST00000264515.6	-	12	1444	c.1303G>T	c.(1303-1305)Gag>Tag	p.E435*	RBBP5_ENST00000367164.1_Nonsense_Mutation_p.E435*	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	435					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	p.E435*(1)		cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTCTTCTTCTCTGAACTAGCC	0.493000													30	262					3.90053e-15	5.26886e-15	0.012213	1	0
PSG4	5672	broad.mit.edu	37	19	43708174	43708174	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr19:43708174T>A	ENST00000405312.3	-	2	531	c.294A>T	c.(292-294)agA>agT	p.R98S	PSG4_ENST00000244295.9_Missense_Mutation_p.R98S|PSG4_ENST00000433626.2_Missense_Mutation_p.R98S	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	98	Ig-like V-type.				defense response|female pregnancy	extracellular region		p.R98S(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ATACTCTTTCTCTTCCACTGT	0.433000													40	492					0	0	0.007835	0	0
FEZF1	389549	broad.mit.edu	37	7	121942174	121942174	+	Silent	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr7:121942174G>A	ENST00000442488.2	-	4	1372	c.1305C>T	c.(1303-1305)ggC>ggT	p.G435G	FEZF1_ENST00000331178.4_Silent_p.G431G|FEZF1_ENST00000427185.2_Silent_p.G385G	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	435	Pro-rich.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G431G(1)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TGCCTGGTTCGCCAGCTGGCG	0.706000													8	73					0	0	0.013537	0	0
ZC3H13	23091	broad.mit.edu	37	13	46539475	46539475	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr13:46539475C>T	ENST00000242848.4	-	16	4759	c.4411G>A	c.(4411-4413)Gaa>Aaa	p.E1471K	ZC3H13_ENST00000378921.2_Missense_Mutation_p.E427K|ZC3H13_ENST00000282007.3_Missense_Mutation_p.E1472K			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1471							nucleic acid binding|zinc ion binding	p.E1472K(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GCCAGAATTTCATCTAGTTCG	0.443000													12	216					0	0	0.002450	0	0
INSC	387755	broad.mit.edu	37	11	15197341	15197341	+	Silent	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr11:15197341C>G	ENST00000379554.3	+	3	298	c.252C>G	c.(250-252)ctC>ctG	p.L84L	INSC_ENST00000424273.1_Silent_p.L37L|INSC_ENST00000530161.1_Silent_p.L37L|INSC_ENST00000379556.3_Silent_p.L37L|INSC_ENST00000528567.1_Silent_p.L37L|INSC_ENST00000525218.1_Silent_p.L37L	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	84					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ATCTGAAGCTCATGACCGAGT	0.572000													3	88					0	0	0.009096	0	0
SETX	23064	broad.mit.edu	37	9	135205014	135205014	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr9:135205014C>T	ENST00000372169.2	-	10	2153	c.1971G>A	c.(1969-1971)ttG>ttA	p.L657L	SETX_ENST00000224140.5_Silent_p.L657L|SETX_ENST00000393220.1_Silent_p.L657L			Q7Z333	SETX_HUMAN	senataxin	657				L -> S (in Ref. 2; CAD98045).	cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.L657L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTGCTTTGATCAATACACTGT	0.378000													5	92					0	0	0.000602	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95111393	95111393	+	RNA	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr14:95111393G>A	ENST00000469935.1	+	0	1213					NR_015340.1																						TCCCTGGGCAGCCTGGACTGA	0.498000													10	36					0	0	0.008291	0	0
HMBS	3145	broad.mit.edu	37	11	118960719	118960719	+	Missense_Mutation	SNP	G	G	A	rs143984293		TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr11:118960719G>A	ENST00000537841.1	+	7	604	c.313G>A	c.(313-315)Gct>Act	p.A105T	HMBS_ENST00000542729.1_Missense_Mutation_p.A105T|HMBS_ENST00000543090.1_Missense_Mutation_p.A104T|HMBS_ENST00000278715.3_Missense_Mutation_p.A122T|HMBS_ENST00000544387.1_Missense_Mutation_p.A122T|HMBS_ENST00000442944.2_Missense_Mutation_p.A105T|HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000392841.1_Missense_Mutation_p.A105T			P08397	HEM3_HUMAN	hydroxymethylbilane synthase	122					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity	p.A122T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CCCTCATGATGCTGTTGTCTT	0.517000													15	164					0	0	0.004990	0	0
PRDX4	10549	broad.mit.edu	37	X	23685884	23685884	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:23685884G>T	ENST00000379341.4	+	1	322	c.197G>T	c.(196-198)cGg>cTg	p.R66L	PRDX4_ENST00000495599.1_3'UTR|PRDX4_ENST00000379331.3_Missense_Mutation_p.R66L	NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	66					cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity	p.R66L(2)		lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GAGGCATCCCGGGTATCGGTC	0.642000													8	90					7.48243e-07	8.76438e-07	0.006214	1	0
TSNAXIP1	55815	broad.mit.edu	37	16	67860420	67860420	+	Silent	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr16:67860420C>G	ENST00000388833.3	+	11	1571	c.1194C>G	c.(1192-1194)gtC>gtG	p.V398V	TSNAXIP1_ENST00000415766.3_Silent_p.V383V|TSNAXIP1_ENST00000561639.1_Silent_p.V452V	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	398					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		p.V398V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		AGGACGTGGTCAACCTCCTCA	0.552000													7	115					0	0	0.001984	0	0
LCT	3938	broad.mit.edu	37	2	136552261	136552261	+	Silent	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr2:136552261G>C	ENST00000264162.2	-	14	5071	c.5061C>G	c.(5059-5061)ctC>ctG	p.L1687L		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1687	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.L1687L(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGTTGTAGGCGAGGACAGTGG	0.507000													8	177					0	0	0.004482	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43827054	43827054	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr15:43827054C>G	ENST00000420765.1	-	31	4302	c.4120G>C	c.(4120-4122)Gag>Cag	p.E1374Q	PPIP5K1_ENST00000360301.4_Missense_Mutation_p.E1349Q|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.E1349Q|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.E1347Q|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.E1350Q|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.E1370Q|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.E1374Q|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.E1347Q	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1374					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.E1374L(1)		large_intestine(1)	1						TCAGGGATCTCTTCAGCTGGG	0.552000													6	148					0	0	0.001168	0	0
NEK1	4750	broad.mit.edu	37	4	170321765	170321765	+	Silent	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr4:170321765G>A	ENST00000439128.2	-	32	4177	c.3537C>T	c.(3535-3537)tgC>tgT	p.C1179C	NEK1_ENST00000511633.1_Silent_p.C1163C|NEK1_ENST00000507142.1_Silent_p.C1207C|NEK1_ENST00000512193.1_Silent_p.C1110C|NEK1_ENST00000510533.1_Silent_p.C1135C	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1179					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.C1207C(4)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AGACACTATCGCATTCACATT	0.318000													3	12					0	0	0.004672	0	0
FLI1	2313	broad.mit.edu	37	11	128680783	128680783	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr11:128680783C>T	ENST00000344954.6	+	9	1548	c.1160C>T	c.(1159-1161)tCa>tTa	p.S387L	FLI1_ENST00000525560.1_Missense_Mutation_p.S227L|FLI1_ENST00000429175.2_Missense_Mutation_p.S420L|FLI1_ENST00000281428.8_Missense_Mutation_p.S354L|FLI1_ENST00000534087.1_Missense_Mutation_p.S387L			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	420					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S420L(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GGAGCCGCATCACAATACTGG	0.572000			T	EWSR1	Ewing sarcoma								5	93					0	0	0.001984	0	0
ARRB2	409	broad.mit.edu	37	17	4621908	4621908	+	Splice_Site	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr17:4621908G>A	ENST00000269260.2	+	10	941	c.706_splice	c.e10-1	p.V236_splice	ARRB2_ENST00000381488.6_Splice_Site_p.V221_splice|ARRB2_ENST00000572457.1_Splice_Site_p.V44_splice|ARRB2_ENST00000571206.1_Splice_Site_p.V44_splice|ARRB2_ENST00000412477.3_Splice_Site_p.V257_splice|ARRB2_ENST00000346341.2_Splice_Site_p.V221_splice|ARRB2_ENST00000575877.1_Splice_Site_p.V236_splice|ARRB2_ENST00000574954.1_Splice_Site_p.V44_splice	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	236					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	p.V236V(1)		large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						ACCCCACAGTGAGACAGTACG	0.612000													14	222					0	0	0.004990	0	0
BCHE	590	broad.mit.edu	37	3	165547424	165547424	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr3:165547424A>T	ENST00000264381.3	-	2	1564	c.1398T>A	c.(1396-1398)caT>caA	p.H466Q	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	466					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.H466Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TTTCATAGCCATGCATCACTC	0.408000													12	122					0	0	0.002450	0	0
TM9SF1	10548	broad.mit.edu	37	14	24682634	24682634	+	Silent	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr14:24682634G>C	ENST00000556387.1	-	1	45	c.12C>G	c.(10-12)ctC>ctG	p.L4L	CHMP4A_ENST00000347519.6_Silent_p.L47L|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000530611.1_Silent_p.L4L			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	0					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		p.L47L(1)		NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		AGAGCCTGCCGAGACCACTCA	0.682000													11	79					0	0	0.001855	0	0
ACVR2B	93	broad.mit.edu	37	3	38524628	38524628	+	Splice_Site	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr3:38524628G>T	ENST00000352511.3	+	11	1816		c.e11-1			NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB						activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	p.?(1)		lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		ATGCTGCTTAGGGCCTGGCCC	0.557000													39	416					4.4882e-36	6.29099e-36	0.009718	1	0
AKAP4	8852	broad.mit.edu	37	X	49958061	49958061	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:49958061T>A	ENST00000376056.2	-	5	1426	c.1276A>T	c.(1276-1278)Ata>Tta	p.I426L	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.I435L|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Missense_Mutation_p.I426L			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	435					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	p.I435L(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TCCTCACCTATAAGGGCACTG	0.453000													23	200					0	0	0.002780	0	0
SRPX2	27286	broad.mit.edu	37	X	99917179	99917179	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:99917179G>A	ENST00000373004.3	+	4	598	c.170G>A	c.(169-171)cGa>cAa	p.R57Q		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	57					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	p.R57Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						ACAGTCCCCCGATGGTGTTAT	0.443000													9	114					0	0	0.008291	0	0
DNAH3	55567	broad.mit.edu	37	16	21061251	21061251	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr16:21061251C>T	ENST00000261383.3	-	30	4326	c.4327G>A	c.(4327-4329)Gcc>Acc	p.A1443T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1443T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1443	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A1443T(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAGGCTTTGGCCAAATCTTTG	0.542000													25	193					0	0	0.007291	0	0
EMR1	2015	broad.mit.edu	37	19	6928183	6928183	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr19:6928183C>T	ENST00000312053.4	+	17	2287	c.2250C>T	c.(2248-2250)ttC>ttT	p.F750F	EMR1_ENST00000450315.3_Silent_p.F573F|EMR1_ENST00000381404.4_Silent_p.F698F|EMR1_ENST00000250572.8_Silent_p.F685F|EMR1_ENST00000381407.5_Silent_p.F609F	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	750					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.F750F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AGACAGGGTTCATCTGGAGTT	0.498000													22	284					0	0	0.012319	0	0
MAP3K4	4216	broad.mit.edu	37	6	161508851	161508851	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr6:161508851C>T	ENST00000392142.4	+	10	2836	c.2688C>T	c.(2686-2688)ctC>ctT	p.L896L	MAP3K4_ENST00000366919.2_Silent_p.L896L|MAP3K4_ENST00000348824.7_Silent_p.L896L|MAP3K4_ENST00000366920.2_Silent_p.L896L	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	896					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.L896L(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ATGACGTACTCATCGATGCCT	0.502000													25	92					0	0	0.007291	0	0
OXER1	165140	broad.mit.edu	37	2	42990262	42990262	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr2:42990262A>T	ENST00000378661.2	-	1	1139	c.1058T>A	c.(1057-1059)gTg>gAg	p.V353E		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	353					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	p.V353E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						GCAGTAGAGCACGGGGTCCAG	0.652000													9	80					0	0	0.004482	0	0
CASP5	838	broad.mit.edu	37	11	104872881	104872881	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr11:104872881G>A	ENST00000393139.2	-	4	551	c.382C>T	c.(382-384)Cat>Tat	p.H128Y	CASP5_ENST00000393141.2_Silent_p.I210I|CASP5_ENST00000526056.1_Silent_p.I210I|CASP5_ENST00000418434.1_Silent_p.I55I|CASP5_ENST00000444749.2_Silent_p.I139I|CASP5_ENST00000531367.1_Silent_p.I55I|CASP5_ENST00000260315.3_Silent_p.I197I			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	0	CARD.				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	p.I181I(1)|p.I210I(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TATTGCATATGATGAGAGCCA	0.488000													20	169					0	0	0.010504	0	0
SENP3	26168	broad.mit.edu	37	17	7474715	7474715	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr17:7474715C>T	ENST00000321337.7	+	12	1956	c.1636C>T	c.(1636-1638)Cag>Tag	p.Q546*	SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000578868.1_3'UTR|SENP3_ENST00000429205.2_Nonsense_Mutation_p.Q547*	NM_015670.5	NP_056485.2	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	547					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity	p.Q547*(1)		central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				GGCCCTGTCTCAGCCATTCAG	0.527000													4	62					0	0	0.000602	0	0
SCNN1B	6338	broad.mit.edu	37	16	23382700	23382700	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr16:23382700C>G	ENST00000343070.2	+	6	1137	c.961C>G	c.(961-963)Cac>Gac	p.H321D	SCNN1B_ENST00000568923.1_Missense_Mutation_p.H294D|SCNN1B_ENST00000568085.1_Missense_Mutation_p.H321D|SCNN1B_ENST00000307331.5_Missense_Mutation_p.H366D	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	321					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	p.H321D(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GCTGATGCTTCACGAGCAGAG	0.607000													7	59					0	0	0.004482	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967217	106967217	+	RNA	SNP	T	T	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr14:106967217T>C	ENST00000390622.2	-	0	486																											CAAGCCCTTGTCCAGGGGCCT	0.552000													11	104					0	0	0.004007	0	0
A4GNT	51146	broad.mit.edu	37	3	137843388	137843388	+	Silent	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr3:137843388G>C	ENST00000236709.3	-	3	942	c.741C>G	c.(739-741)ctC>ctG	p.L247L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	247					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TCAGACACCTGAGGTCGCTCA	0.483000													3	123					0	0	0.004672	0	0
ASXL2	55252	broad.mit.edu	37	2	25967042	25967042	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr2:25967042C>T	ENST00000435504.4	-	13	2457	c.2164G>A	c.(2164-2166)Gaa>Aaa	p.E722K	ASXL2_ENST00000272341.4_Missense_Mutation_p.E462K|ASXL2_ENST00000336112.4_Missense_Mutation_p.E694K|ASXL2_ENST00000404843.1_Missense_Mutation_p.E462K			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	722	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.E462K(1)|p.E722K(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCCAGTTTCACTGACTCTG	0.597000													7	271					0	0	0.001984	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21811336	21811336	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr14:21811336T>C	ENST00000206660.6	+	21	3481	c.3481T>C	c.(3481-3483)Tcc>Ccc	p.S1161P	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.S1123P|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.S487P|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.S520P|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.S818P|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.S1161P			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	1161	Interaction with RPGR.				response to stimulus|visual perception	cilium		p.S1161P(1)|p.S777P(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GACTCCAGTGTCCCTAAGGAA	0.483000													9	123					0	0	0.006214	0	0
LIMCH1	22998	broad.mit.edu	37	4	41652437	41652437	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr4:41652437G>C	ENST00000313860.7	+	13	1747	c.1693G>C	c.(1693-1695)Gag>Cag	p.E565Q	LIMCH1_ENST00000509277.1_Missense_Mutation_p.E399Q|LIMCH1_ENST00000512946.1_Missense_Mutation_p.E565Q|LIMCH1_ENST00000503057.1_Missense_Mutation_p.E950Q|LIMCH1_ENST00000508501.1_Missense_Mutation_p.E565Q|LIMCH1_ENST00000514096.1_Missense_Mutation_p.E406Q|LIMCH1_ENST00000511496.1_Missense_Mutation_p.E406Q|LIMCH1_ENST00000381753.4_Missense_Mutation_p.E399Q|LIMCH1_ENST00000512820.1_Missense_Mutation_p.E553Q|LIMCH1_ENST00000512632.1_Missense_Mutation_p.E565Q|LIMCH1_ENST00000396595.3_Missense_Mutation_p.E411Q|LIMCH1_ENST00000513024.1_Missense_Mutation_p.E394Q	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	565					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TGTGAATGGAGAGACGGTTCA	0.458000													3	79					0	0	0.009096	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049328	42049328	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:42049328G>C	ENST00000372584.1	-	3	2155	c.1141C>G	c.(1141-1143)Ctg>Gtg	p.L381V	HIVEP3_ENST00000429157.2_Missense_Mutation_p.L381V|HIVEP3_ENST00000372583.1_Missense_Mutation_p.L381V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.L381V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	381	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCTGGGCTCAGAAACGCCTGC	0.567000													4	171					0	0	0.009096	0	0
BPIFB2	80341	broad.mit.edu	37	20	31607499	31607499	+	Silent	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr20:31607499G>T	ENST00000170150.3	+	11	1218	c.1023G>T	c.(1021-1023)gtG>gtT	p.V341V		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	341						extracellular region	lipid binding	p.V341V(1)									AGCCCTTCGTGGAGGTCCTGG	0.642000													6	31					1.06961e-07	1.27064e-07	0.003080	1	0
PPIP5K1	9677	broad.mit.edu	37	15	43827053	43827053	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr15:43827053T>A	ENST00000420765.1	-	31	4303	c.4121A>T	c.(4120-4122)gAg>gTg	p.E1374V	PPIP5K1_ENST00000360301.4_Missense_Mutation_p.E1349V|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.E1349V|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.E1347V|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.E1350V|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.E1370V|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.E1374V|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.E1347V	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1374					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.E1374L(1)		large_intestine(1)	1						CTCAGGGATCTCTTCAGCTGG	0.552000													6	149					0	0	0.001168	0	0
CCDC181	57821	broad.mit.edu	37	1	169388313	169388313	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:169388313C>G	ENST00000545005.1	-	5	1660	c.1153G>C	c.(1153-1155)Gag>Cag	p.E385Q	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.E385Q|CCDC181_ENST00000367806.3_Missense_Mutation_p.E385Q					coiled-coil domain containing 181									p.E385Q(1)									AAGACCTGCTCTCTTTTCTTT	0.338000													6	83					0	0	0.001984	0	0
GJA10	84694	broad.mit.edu	37	6	90605301	90605301	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr6:90605301A>C	ENST00000369352.1	+	1	1114	c.1114A>C	c.(1114-1116)Act>Cct	p.T372P		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	372					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.T372P(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GCTAGGTACAACTACGGCTCC	0.532000													23	157					0	0	0.003330	0	0
ANO10	55129	broad.mit.edu	37	3	43474152	43474152	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr3:43474152A>T	ENST00000292246.3	-	12	2035	c.1865T>A	c.(1864-1866)aTg>aAg	p.M622K	ANO10_ENST00000414522.2_Intron|ANO10_ENST00000396091.3_Missense_Mutation_p.M556K|ANO10_ENST00000451430.2_Missense_Mutation_p.M511K|ANO10_ENST00000350459.4_Missense_Mutation_p.M432K	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	622					cell death	chloride channel complex	chloride channel activity	p.M622K(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						GGCTAGTTTCATCTGGATATG	0.428000													7	103					0	0	0.003080	0	0
RYR1	6261	broad.mit.edu	37	19	38976304	38976304	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr19:38976304G>A	ENST00000355481.4	+	34	5140	c.5009G>A	c.(5008-5010)cGc>cAc	p.R1670H	RYR1_ENST00000360985.3_Missense_Mutation_p.R1670H|RYR1_ENST00000359596.3_Missense_Mutation_p.R1670H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1670	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R1670H(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGCCTCTACCGCGCTGTGTGC	0.662000													17	83					0	0	0.008871	0	0
IGSF1	3547	broad.mit.edu	37	X	130408770	130408770	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:130408770C>A	ENST00000370904.1	-	24	4437	c.3527G>T	c.(3526-3528)gGa>gTa	p.G1176V	IGSF1_ENST00000370903.3_Missense_Mutation_p.G1190V|IGSF1_ENST00000361420.3_Missense_Mutation_p.G1185V|IGSF1_ENST00000370910.1_Missense_Mutation_p.G1176V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1185	Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.G1185V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGGCAGGGGTCCTCGGCACTG	0.507000													43	416					3.61848e-18	4.96799e-18	0.007835	1	0
TSHZ3	57616	broad.mit.edu	37	19	31768037	31768037	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr19:31768037C>T	ENST00000240587.4	-	2	2989	c.2662G>A	c.(2662-2664)Gcc>Acc	p.A888T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	888					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	p.A888T(1)|p.A705T(1)		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)					CTCTTCTGGGCGGGCGTCGAC	0.617000													7	47					0	0	0.004482	0	0
SERAC1	84947	broad.mit.edu	37	6	158571596	158571596	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr6:158571596C>G	ENST00000367102.2	-	4	295	c.154G>C	c.(154-156)Gtt>Ctt	p.V52L	SERAC1_ENST00000607000.1_Missense_Mutation_p.V52L|SERAC1_ENST00000367101.1_Missense_Mutation_p.V52L|SERAC1_ENST00000367104.3_Missense_Mutation_p.V52L			Q96JX3	SRAC1_HUMAN	serine active site containing 1	52					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AGGGCCAGAACTTCATATGTA	0.328000													4	88					0	0	0.000602	0	0
HAUS3	79441	broad.mit.edu	37	4	2233854	2233854	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr4:2233854G>C	ENST00000243706.4	-	5	1841	c.1612C>G	c.(1612-1614)Caa>Gaa	p.Q538E	HAUS3_ENST00000443786.2_Missense_Mutation_p.Q538E|POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	538					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		p.Q538E(1)		breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TTATTCAGTTGAGATTCAACT	0.254000													7	30					0	0	0.001984	0	0
TRPS1	7227	broad.mit.edu	37	8	116599248	116599248	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr8:116599248C>T	ENST00000395715.3	-	5	3257	c.2680G>A	c.(2680-2682)Gaa>Aaa	p.E894K	TRPS1_ENST00000520276.1_Missense_Mutation_p.E885K|TRPS1_ENST00000519076.1_Missense_Mutation_p.E635K|TRPS1_ENST00000220888.5_Missense_Mutation_p.E881K|TRPS1_ENST00000519674.1_Missense_Mutation_p.E881K	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	881			V -> D (in TRPS3; in heterozygous status has a milder effect causing TRPS1).		negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E881K(1)|p.E894K(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GACTGGGATTCATCCTTGGAC	0.498000									Langer-Giedion syndrome				8	131					0	0	0.003080	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17942588	17942588	+	Splice_Site	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:17942588G>C	ENST00000361221.3	+	9	885		c.e9-1		ARHGEF10L_ENST00000452522.1_Splice_Site|ARHGEF10L_ENST00000375415.1_Splice_Site|ARHGEF10L_ENST00000375420.3_Splice_Site|ARHGEF10L_ENST00000434513.1_Splice_Site|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like						regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.?(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCTTTGCTCAGATGACCCAGC	0.627000													8	238					0	0	0.004482	0	0
TRAIP	10293	broad.mit.edu	37	3	49879316	49879316	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr3:49879316A>G	ENST00000331456.2	-	7	673	c.560T>C	c.(559-561)aTg>aCg	p.M187T	TRAIP_ENST00000469027.1_Intron	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	187					cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	p.M187T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCCACACCCATGTCTCGGAT	0.557000													4	57					0	0	0.009096	0	0
FCRL6	343413	broad.mit.edu	37	1	159779333	159779333	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:159779333G>A	ENST00000321935.6	+	6	853	c.767G>A	c.(766-768)gGg>gAg	p.G256E	FCRL6_ENST00000339348.5_Missense_Mutation_p.G249E|FCRL6_ENST00000368106.3_Missense_Mutation_p.G249E|FCRL6_ENST00000392235.3_Missense_Mutation_p.G154E			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	249	Ig-like C2-type 3.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AAGATTGTGGGGAACCACTCA	0.577000													4	111					0	0	0.009096	0	0
PTK7	5754	broad.mit.edu	37	6	43114421	43114421	+	Silent	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr6:43114421C>G	ENST00000230419.4	+	17	2927	c.2706C>G	c.(2704-2706)ctC>ctG	p.L902L	PTK7_ENST00000349241.2_Silent_p.L772L|PTK7_ENST00000345201.2_Silent_p.L862L|PTK7_ENST00000481273.1_Silent_p.L910L|PTK7_ENST00000352931.2_Silent_p.L846L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	902	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L902L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CACAGCCCCTCAGCACCAAGC	0.557000													3	103					0	0	0.004672	0	0
OR10H5	284433	broad.mit.edu	37	19	15904894	15904894	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr19:15904894C>T	ENST00000308940.8	+	1	134	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F12F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TGTCTGAATTCATCCTCGTTG	0.572000													12	302					0	0	0.003163	0	0
IRAK1	3654	broad.mit.edu	37	X	153284086	153284086	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:153284086C>T	ENST00000369980.3	-	5	860	c.693G>A	c.(691-693)atG>atA	p.M231I	IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000393682.1_Missense_Mutation_p.M257I|IRAK1_ENST00000369974.2_Missense_Mutation_p.M231I|IRAK1_ENST00000393687.2_Missense_Mutation_p.M231I|IRAK1_ENST00000429936.2_Missense_Mutation_p.M257I	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	231	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGTGTTCCTCATCACCGCCC	0.602000													10	547					0	0	0.008291	0	0
DST	667	broad.mit.edu	37	6	56468068	56468068	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr6:56468068A>T	ENST00000370754.5	-	41	10992	c.10993T>A	c.(10993-10995)Tct>Act	p.S3665T	DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.S3161T|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.S3487T|DST_ENST00000361203.3_Missense_Mutation_p.S3487T|DST_ENST00000370769.4_Missense_Mutation_p.S3487T			Q03001	DYST_HUMAN	dystonin	3487					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGAGGGAAGAGAAGGCGGTC	0.418000													4	18					0	0	0.009096	0	0
ALKBH4	54784	broad.mit.edu	37	7	102100065	102100065	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr7:102100065C>G	ENST00000292566.3	-	2	346	c.307G>C	c.(307-309)Gga>Cga	p.G103R		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	103						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.G103R(1)		kidney(1)|lung(5)|skin(2)	8						TTCCTCCGTCCAGACTGGGAG	0.642000													11	245					0	0	0.013537	0	0
ZNF438	220929	broad.mit.edu	37	10	31134418	31134418	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr10:31134418C>A	ENST00000538351.1	-	8	2566	c.1812G>T	c.(1810-1812)caG>caT	p.Q604H	ZNF438_ENST00000331737.6_Missense_Mutation_p.Q643H|ZNF438_ENST00000442986.1_Missense_Mutation_p.Q653H|ZNF438_ENST00000444692.2_Missense_Mutation_p.Q643H|ZNF438_ENST00000375311.1_Missense_Mutation_p.Q217H|ZNF438_ENST00000452305.1_Missense_Mutation_p.Q643H|ZNF438_ENST00000361310.3_Missense_Mutation_p.Q653H|ZNF438_ENST00000436087.2_Missense_Mutation_p.Q653H|ZNF438_ENST00000413025.1_Missense_Mutation_p.Q653H	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	653					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q653H(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GAGCAGTAATCTGACAACGAC	0.418000													17	199					6.94344e-10	8.84431e-10	0.006122	1	0
ARF3	377	broad.mit.edu	37	12	49334843	49334843	+	Silent	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr12:49334843C>G	ENST00000256682.4	-	2	370	c.36G>C	c.(34-36)ctG>ctC	p.L12L	ARF3_ENST00000398092.4_Silent_p.L12L|ARF3_ENST00000541959.1_Silent_p.L12L|ARF3_ENST00000447318.2_Silent_p.L12L	NM_001659.2	NP_001650.1	P61204	ARF3_HUMAN	ADP-ribosylation factor 3	12					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity			endometrium(1)|lung(2)|skin(1)	4						TCTTCCCAATCAGGCTCTTGA	0.547000													4	375					0	0	0.009096	0	0
RHOD	29984	broad.mit.edu	37	11	66834240	66834240	+	Silent	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr11:66834240G>T	ENST00000308831.2	+	3	337	c.252G>T	c.(250-252)ctG>ctT	p.L84L	RHOD_ENST00000532559.1_Intron|RHOD_ENST00000533360.1_Silent_p.L84L	NM_014578.3	NP_055393.1	O00212	RHOD_HUMAN	ras homolog family member D	84					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	p.L84L(1)		lung(3)	3						TGCGGCCCCTGTTCTACCCTG	0.612000													27	240					6.05902e-23	8.38748e-23	0.003755	1	0
NLRP4	147945	broad.mit.edu	37	19	56382295	56382295	+	Silent	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr19:56382295G>T	ENST00000301295.6	+	7	2879	c.2457G>T	c.(2455-2457)ctG>ctT	p.L819L	NLRP4_ENST00000346986.5_Silent_p.L763L|NLRP4_ENST00000587891.1_Silent_p.L744L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	819							ATP binding	p.L819L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCAATGTCCTGAAGGACGAAG	0.507000													18	124					1.45105e-14	1.94441e-14	0.006122	1	0
NKD1	85407	broad.mit.edu	37	16	50642215	50642215	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr16:50642215G>A	ENST00000268459.3	+	4	427	c.203G>A	c.(202-204)gGc>gAc	p.G68D	RP11-401P9.6_ENST00000379963.1_RNA|NKD1_ENST00000564336.1_3'UTR	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	68					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	p.G68D(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GAGCTCGTGGGCGACGTGTTG	0.597000													22	203					0	0	0.003330	0	0
FAM83G	644815	broad.mit.edu	37	17	18881012	18881012	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr17:18881012C>T	ENST00000388995.6	-	5	2190	c.1967G>A	c.(1966-1968)cGa>cAa	p.R656Q	SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.R656Q|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R656Q|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	656								p.R656Q(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						AAAGGTCCCTCGGGTTATATG	0.647000													8	75					0	0	0.010729	0	0
OLFML2B	25903	broad.mit.edu	37	1	161969907	161969907	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:161969907C>T	ENST00000294794.3	-	5	1368	c.945G>A	c.(943-945)gaG>gaA	p.E315E	OLFML2B_ENST00000367940.2_Silent_p.E316E	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	315								p.E315E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ACTCACGCTGCTCTTCAATGT	0.592000													12	152					0	0	0.003163	0	0
AMER1	139285	broad.mit.edu	37	X	63412785	63412785	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:63412785G>A	ENST00000330258.3	-	2	654	c.382C>T	c.(382-384)Ccc>Tcc	p.P128S	AMER1_ENST00000374869.3_Missense_Mutation_p.P128S|AMER1_ENST00000403336.1_Missense_Mutation_p.P128S	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)|p.P128S(2)									TGAGAGCTGGGAAATTGGCAG	0.557000													10	98					0	0	0.010729	0	0
VGLL2	245806	broad.mit.edu	37	6	117589564	117589564	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr6:117589564G>T	ENST00000326274.5	+	2	491	c.301G>T	c.(301-303)Gaa>Taa	p.E101*	VGLL2_ENST00000352536.3_Nonsense_Mutation_p.E101*	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	101					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		CGTGGTGGATGAACATTTCAG	0.582000													4	106					2.56e-06	2.96747e-06	0.009096	1	0
SYNE2	23224	broad.mit.edu	37	14	64686021	64686021	+	Missense_Mutation	SNP	G	G	T	rs148199074	by1000genomes	TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr14:64686021G>T	ENST00000357395.3	+	110	19983	c.8839G>T	c.(8839-8841)Gcc>Tcc	p.A2947S	SYNE2_ENST00000555022.1_Missense_Mutation_p.A440S|SYNE2_ENST00000554805.1_Missense_Mutation_p.A345S|SYNE2_ENST00000458046.2_Missense_Mutation_p.A219S|SYNE2_ENST00000358025.3_Missense_Mutation_p.A6585S|SYNE2_ENST00000441438.2_Missense_Mutation_p.A93S|SYNE2_ENST00000555002.1_Missense_Mutation_p.A3219S|SYNE2_ENST00000554584.1_Missense_Mutation_p.A6478S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.A2947S|SYNE2_ENST00000344113.4_Missense_Mutation_p.A6562S			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6562					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.A6585S(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGATATCAGCGCCATCACTAC	0.428000													12	104					6.40141e-05	6.98525e-05	0.010729	1	0
MYH2	4620	broad.mit.edu	37	17	10432095	10432095	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr17:10432095A>G	ENST00000245503.5	-	27	4040	c.3656T>C	c.(3655-3657)gTg>gCg	p.V1219A	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.V1219A|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1219					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.V1219A(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTCTGCTTCACTCGCTGCAG	0.512000													27	186					0	0	0.008361	0	0
CEP85L	387119	broad.mit.edu	37	6	118953676	118953676	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr6:118953676T>A	ENST00000368491.3	-	2	793	c.172A>T	c.(172-174)Agt>Tgt	p.S58C	CEP85L_ENST00000419517.2_Missense_Mutation_p.S58C|CEP85L_ENST00000392500.3_Missense_Mutation_p.S61C|CEP85L_ENST00000368488.5_Missense_Mutation_p.S61C|CEP85L_ENST00000360290.3_5'UTR	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	58						centrosome		p.S58C(1)									GAAGCTATACTGTGTCTCCTG	0.413000													21	126					0	0	0.014323	0	0
TTC38	55020	broad.mit.edu	37	22	46671251	46671251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr22:46671251C>T	ENST00000381031.3	+	5	548	c.472C>T	c.(472-474)Cag>Tag	p.Q158*	TTC38_ENST00000445282.2_Intron	NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	158							binding	p.Q158*(1)		endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						CCTGGGCTATCAGGAACAGAT	0.468000													18	170					0	0	0.012319	0	0
CASC3	22794	broad.mit.edu	37	17	38296830	38296830	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr17:38296830C>T	ENST00000264645.7	+	1	255	c.29C>T	c.(28-30)tCg>tTg	p.S10L		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	10					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	p.S10L(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CAGCGCGCTTCGCAAGACACC	0.726000													8	47					0	0	0.003080	0	0
TTC14	151613	broad.mit.edu	37	3	180322027	180322027	+	Silent	SNP	A	A	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr3:180322027A>G	ENST00000412756.2	+	4	570	c.501A>G	c.(499-501)ttA>ttG	p.L167L	TTC14_ENST00000382584.4_Silent_p.L167L|TTC14_ENST00000296015.4_Silent_p.L167L	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	167	S1 motif.						RNA binding	p.L167L(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTGTCCCTTAAGAGATGTGC	0.348000													11	88					0	0	0.013537	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269436	30269436	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:30269436G>C	ENST00000378981.3	+	4	1147	c.826G>C	c.(826-828)Gcc>Ccc	p.A276P	MAGEB1_ENST00000397548.2_Missense_Mutation_p.A276P|MAGEB1_ENST00000397550.1_Missense_Mutation_p.A276P	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	276	MAGE.							p.A276P(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GGGTCCGAGAGCCTATGCTGA	0.493000													19	108					0	0	0.007413	0	0
BAG3	9531	broad.mit.edu	37	10	121432086	121432086	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr10:121432086G>T	ENST00000369085.3	+	3	1133	c.827G>T	c.(826-828)cGg>cTg	p.R276L		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	276					anti-apoptosis|apoptosis|protein folding	cytosol		p.R276L(1)		endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GCATCGAGCCGGGAGGGCTCA	0.667000													11	59					5.50884e-06	6.23466e-06	0.013537	1	0
POSTN	10631	broad.mit.edu	37	13	38154004	38154004	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr13:38154004G>C	ENST00000379747.4	-	12	1771	c.1654C>G	c.(1654-1656)Ctg>Gtg	p.L552V	POSTN_ENST00000379742.4_Missense_Mutation_p.L552V|POSTN_ENST00000541481.1_Missense_Mutation_p.L552V|POSTN_ENST00000379749.4_Missense_Mutation_p.L552V|POSTN_ENST00000541179.1_Missense_Mutation_p.L552V|POSTN_ENST00000379743.4_Missense_Mutation_p.L552V	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	552	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	p.L552V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTACGTATCAGAATTTCTTTT	0.398000													6	55					0	0	0.001168	0	0
NR4A2	4929	broad.mit.edu	37	2	157185044	157185044	+	Splice_Site	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr2:157185044C>T	ENST00000339562.4	-	4	1228	c.864_splice	c.e4-1	p.R289_splice	NR4A2_ENST00000409108.2_Splice_Site_p.R289_splice|NR4A2_ENST00000429376.1_Splice_Site_p.R226_splice|NR4A2_ENST00000426264.1_Splice_Site_p.R226_splice|NR4A2_ENST00000539077.1_Splice_Site_p.R300_splice|NR4A2_ENST00000409572.1_Splice_Site_p.R289_splice	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	289					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R289H(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TTGCACTGTGCGCTGCAAAAG	0.418000													4	134					0	0	0.009096	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73163757	73163757	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr5:73163757G>T	ENST00000545377.1	+	19	2385	c.2209G>T	c.(2209-2211)Gtg>Ttg	p.V737L	ARHGEF28_ENST00000437974.1_Missense_Mutation_p.V737L|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.V737L|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.V737L|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.V424L|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.V737L|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.V737L	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28									p.V737L(2)									TTCTTCCTCCGTGCCTGTTGG	0.512000													7	66					5.18039e-06	5.94326e-06	0.003080	1	0
NTNG1	22854	broad.mit.edu	37	1	107937895	107937895	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:107937895G>A	ENST00000370067.1	+	4	1634	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	NTNG1_ENST00000370068.1_Missense_Mutation_p.R336Q|NTNG1_ENST00000370070.2_Missense_Mutation_p.R336Q|NTNG1_ENST00000370071.2_Missense_Mutation_p.R336Q|NTNG1_ENST00000370073.2_Missense_Mutation_p.R336Q|NTNG1_ENST00000370072.3_Missense_Mutation_p.R336Q|NTNG1_ENST00000370061.3_Missense_Mutation_p.R336Q|NTNG1_ENST00000542803.1_Missense_Mutation_p.R336Q|NTNG1_ENST00000370065.1_Missense_Mutation_p.R336Q|NTNG1_ENST00000370074.4_Missense_Mutation_p.R336Q|NTNG1_ENST00000370066.1_Missense_Mutation_p.R336Q			Q9Y2I2	NTNG1_HUMAN	netrin G1	336	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane	protein binding	p.R336Q(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TATCAGGGCCGACCTTGGAGT	0.483000													6	175					0	0	0.001168	0	0
ST8SIA1	6489	broad.mit.edu	37	12	22408292	22408292	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr12:22408292C>A	ENST00000396037.4	-	3	894	c.413G>T	c.(412-414)tGc>tTc	p.C138F	ST8SIA1_ENST00000539510.1_Intron	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	138					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.C138F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CACCACCGCGCATTTCTTCAA	0.483000													16	148					8.00594e-06	9.03027e-06	0.007413	1	0
ITGA1	3672	broad.mit.edu	37	5	52206136	52206136	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr5:52206136A>C	ENST00000282588.6	+	14	2202	c.1744A>C	c.(1744-1746)Aat>Cat	p.N582H		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	582					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	p.N582H(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AAAAGACCTCAATCTTGATGG	0.453000													5	56					0	0	0.000602	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102312093	102312093	+	RNA	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr15:102312093C>A	ENST00000561463.1	+	0	13461																											AGGTGGGGATCCGAGTGCAGT	0.607000													13	86					2.32078e-09	2.90098e-09	0.003163	1	0
FOLH1B	219595	broad.mit.edu	37	11	89424161	89424161	+	RNA	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr11:89424161G>T	ENST00000532352.1	+	0	1624							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.V271F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TGTGGCCCAGGTTCGAGGAGG	0.403000													6	45					0.000157383	0.000168985	0.003080	1	0
MUC16	94025	broad.mit.edu	37	19	8971676	8971676	+	Splice_Site	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr19:8971676C>T	ENST00000397910.4	-	78	43119	c.42916_splice	c.e78+1	p.E14306_splice	MUC16_ENST00000380951.5_Splice_Site_p.E947_splice	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14401	SEA 15.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E14306K(1)		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						CACCTTGTACCTGTCACATGG	0.542000													6	38					0	0	0.003080	0	0
BRINP2	57795	broad.mit.edu	37	1	177250215	177250215	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:177250215T>A	ENST00000361539.4	+	8	2215	c.1903T>A	c.(1903-1905)Tgg>Agg	p.W635R	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		635						extracellular region		p.W635R(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GGGGAATAGGTGGAAGACTTT	0.498000													18	95					0	0	0.004990	0	0
ITGA2	3673	broad.mit.edu	37	5	52371076	52371076	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr5:52371076G>A	ENST00000296585.5	+	23	2910	c.2767G>A	c.(2767-2769)Gat>Aat	p.D923N		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	923					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	p.D923N(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AAACAAGGCTGATAATTTGGT	0.363000													5	73					0	0	0.001168	0	0
ZC3H13	23091	broad.mit.edu	37	13	46559778	46559778	+	Silent	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr13:46559778C>G	ENST00000242848.4	-	10	1722	c.1374G>C	c.(1372-1374)cgG>cgC	p.R458R	ZC3H13_ENST00000282007.3_Silent_p.R458R			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	458	Arg/Ser-rich.						nucleic acid binding|zinc ion binding	p.R458R(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TGGCATCTCTCCGATCCCGAC	0.478000													16	251					0	0	0.003163	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1984472	1984472	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr12:1984472G>T	ENST00000382722.5	-	17	2113	c.1751C>A	c.(1750-1752)cCt>cAt	p.P584H	CACNA2D4_ENST00000586184.1_Missense_Mutation_p.P584H|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.P559H|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.P469H|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.P520H|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.P520H	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	584						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.P584H(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTTGTAGTTAGGTTTGGGTTT	0.478000													11	111					7.03913e-09	8.66951e-09	0.013537	1	0
HLA-B	3106	broad.mit.edu	37	6	31323207	31323207	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr6:31323207C>G	ENST00000412585.2	-	4	810	c.782G>C	c.(781-783)gGa>gCa	p.G261A		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B									p.G261A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GGTTCTATCTCCTGCTGGTCT	0.587000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				7	136					0	0	0.003080	0	0
MAP1A	4130	broad.mit.edu	37	15	43817874	43817874	+	Silent	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr15:43817874G>A	ENST00000382031.1	+	5	4948	c.4917G>A	c.(4915-4917)gtG>gtA	p.V1639V	MAP1A_ENST00000300231.5_Silent_p.V1401V|MAP1A_ENST00000399453.1_Silent_p.V1401V			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1401						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.V1401V(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ATGAGGCTGTGAAACAGCAGG	0.463000													5	111					0	0	0.001168	0	0
POLR1A	25885	broad.mit.edu	37	2	86257402	86257402	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr2:86257402C>T	ENST00000263857.6	-	31	5074	c.4696G>A	c.(4696-4698)Gaa>Aaa	p.E1566K	POLR1A_ENST00000409681.1_Missense_Mutation_p.E1505K			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1566					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	p.E1566K(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTGGTTGTTTCATTCAGGAGG	0.478000													6	166					0	0	0.001168	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111745468	111745468	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr9:111745468T>A	ENST00000374595.4	-	6	936	c.857A>T	c.(856-858)gAc>gTc	p.D286V	CTNNAL1_ENST00000325551.4_Missense_Mutation_p.D286V|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.D286V			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	286					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	p.D286V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		AGATGAAATGTCAGTCTCTCC	0.299000													3	40					0	0	0.009096	0	0
HN1L	90861	broad.mit.edu	37	16	1748889	1748889	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr16:1748889G>C	ENST00000248098.3	+	5	520	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	HN1L_ENST00000561516.1_3'UTR|HN1L_ENST00000382710.4_Missense_Mutation_p.E143Q|HN1L_ENST00000382711.5_Missense_Mutation_p.E139Q|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000569765.1_3'UTR|HN1L_ENST00000562684.1_Missense_Mutation_p.E183Q	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	155						cytoplasm|nucleus				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						CAAGGAGCAGGAGCCCATGCC	0.632000													5	145					0	0	0.000602	0	0
CD82	3732	broad.mit.edu	37	11	44626629	44626629	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr11:44626629G>C	ENST00000227155.4	+	5	406	c.158G>C	c.(157-159)aGg>aCg	p.R53T	RP11-58K22.5_ENST00000533814.1_RNA|CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Missense_Mutation_p.R53T	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	53						integral to plasma membrane	protein binding	p.R53T(1)		large_intestine(1)|ovary(1)	2						AGCTCGCTTAGGATGGGGGCC	0.592000													14	218					0	0	0.002450	0	0
CENPF	1063	broad.mit.edu	37	1	214788297	214788297	+	Silent	SNP	A	A	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:214788297A>G	ENST00000366955.3	+	3	453	c.285A>G	c.(283-285)tcA>tcG	p.S95S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	95	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCAAGGAGTCACAAGTGAATT	0.348000													5	43					0	0	0.000602	0	0
SYTL2	54843	broad.mit.edu	37	11	85436910	85436910	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr11:85436910C>A	ENST00000359152.5	-	1	2161	c.2162G>T	c.(2161-2163)aGt>aTt	p.S721I	SYTL2_ENST00000525423.1_Missense_Mutation_p.S197I|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.S197I|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000527523.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	234	C2 1.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	p.S197I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTCAGAAACACTTGGTTCAAG	0.393000													20	188					8.28177e-16	1.12324e-15	0.007413	1	0
KRTAP13-3	337960	broad.mit.edu	37	21	31797938	31797938	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr21:31797938C>A	ENST00000390690.2	-	1	348	c.293G>T	c.(292-294)gGg>gTg	p.G98V		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	98	5 X 10 AA approximate repeats.					intermediate filament		p.G98V(1)		endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						ACCCCGAGACCCAACATGCAT	0.537000													7	41					0.00198382	0.00207034	0.001984	1	0
TCF20	6942	broad.mit.edu	37	22	42610599	42610599	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr22:42610599G>C	ENST00000359486.3	-	1	849	c.713C>G	c.(712-714)tCt>tGt	p.S238C	TCF20_ENST00000335626.4_Missense_Mutation_p.S238C	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	238	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.S238C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ggaggaAGCAGAAGACTGATA	0.522000													10	197					0	0	0.006214	0	0
GCM2	9247	broad.mit.edu	37	6	10874367	10874367	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr6:10874367A>T	ENST00000379491.4	-	5	1529	c.1382T>A	c.(1381-1383)gTg>gAg	p.V461E	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	461					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	p.V461E(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GGGAATAGCCACAGTGGGTCT	0.577000													7	45					0	0	0.001984	0	0
CDHR2	54825	broad.mit.edu	37	5	175992678	175992678	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr5:175992678G>A	ENST00000510636.1	+	3	332	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	CDHR2_ENST00000506348.1_Missense_Mutation_p.A20T|CDHR2_ENST00000261944.5_Missense_Mutation_p.A20T	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	20					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TACAGTGGCAGCCAACGTGGC	0.607000													3	29					0	0	0.004672	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737699	62737699	+	Silent	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr20:62737699C>A	ENST00000369768.1	-	1	825	c.486G>T	c.(484-486)ggG>ggT	p.G162G		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	162						plasma membrane	opioid receptor activity|protein binding	p.G162G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CGACCTTCGCCCCCCGGTAGG	0.637000													6	41					1.26484e-09	1.59895e-09	0.003080	1	0
CUL7	9820	broad.mit.edu	37	6	43007936	43007936	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr6:43007936G>C	ENST00000535468.1	-	22	4590	c.4504C>G	c.(4504-4506)Ctg>Gtg	p.L1502V	CUL7_ENST00000265348.3_Missense_Mutation_p.L1418V	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1418					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	p.L1418V(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GTGCCCCTCAGGTAGGAGGGC	0.577000													9	233					0	0	0.004482	0	0
TMEM176B	28959	broad.mit.edu	37	7	150493537	150493537	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr7:150493537C>T	ENST00000447204.2	-	2	493	c.121G>A	c.(121-123)Ggt>Agt	p.G41S	TMEM176B_ENST00000492607.1_Missense_Mutation_p.G41S|TMEM176B_ENST00000326442.5_Missense_Mutation_p.G41S|TMEM176B_ENST00000429904.2_Missense_Mutation_p.G41S|TMEM176B_ENST00000450753.2_Missense_Mutation_p.G41S|TMEM176B_ENST00000434545.1_Missense_Mutation_p.G41S	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	41					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		p.G41S(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCAGAGAACCTCCAGCTTTC	0.542000													13	104					0	0	0.013537	0	0
DPYS	1807	broad.mit.edu	37	8	105405013	105405013	+	Splice_Site	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr8:105405013C>A	ENST00000351513.2	-	8	1574	c.1443_splice	c.e8+1	p.R481_splice	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	481					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.R481L(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CACACTCACCCGGTCTCGCTG	0.478000													25	237					7.41945e-09	9.10445e-09	0.005443	1	0
TTN	7273	broad.mit.edu	37	2	179569987	179569987	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr2:179569987G>T	ENST00000589042.1	-	103	29742	c.29518C>A	c.(29518-29520)Cgc>Agc	p.R9840S	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R9523S|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R8596S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9523	Ig-like 79.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R8596S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATACATGCGGGCATATTTT	0.393000													4	29					0.00909568	0.00940448	0.009096	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85450232	85450232	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr12:85450232A>T	ENST00000393217.2	+	8	1722	c.1661A>T	c.(1660-1662)cAg>cTg	p.Q554L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	554								p.Q554L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CAAAAAACCCAGATAATATTA	0.308000													10	32					0	0	0.008291	0	0
ACVR2B	93	broad.mit.edu	37	3	38520636	38520636	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr3:38520636G>C	ENST00000352511.3	+	6	1156	c.684G>C	c.(682-684)caG>caC	p.Q228H		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	228	Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		AGTCGTGGCAGAGTGAACGGG	0.587000													7	368					0	0	0.001984	0	0
AIDA	64853	broad.mit.edu	37	1	222843271	222843271	+	Silent	SNP	A	A	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:222843271A>T	ENST00000340020.6	-	10	1091	c.885T>A	c.(883-885)ctT>ctA	p.L295L	AIDA_ENST00000355727.2_Silent_p.L213L|AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000541237.1_Silent_p.L271L	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	295					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity			p.L295L(1)		kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						GATGAAGATAAAGTGGTTTCT	0.343000													9	82					0	0	0.006214	0	0
MAP9	79884	broad.mit.edu	37	4	156281387	156281387	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr4:156281387G>T	ENST00000311277.4	-	7	1246	c.983C>A	c.(982-984)aCa>aAa	p.T328K	AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000594492.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.T304K|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000596165.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	328					cell division|mitosis	cytoplasm|microtubule|spindle		p.T328K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TGGATCAACTGTTCTGTCATC	0.368000													5	47					0.000602214	0.000638423	0.000602	1	0
GPLD1	2822	broad.mit.edu	37	6	24462987	24462987	+	Silent	SNP	T	T	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr6:24462987T>C	ENST00000230036.1	-	11	968	c.858A>G	c.(856-858)gcA>gcG	p.A286A		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	286						extracellular region	glycosylphosphatidylinositol phospholipase D activity	p.A286A(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GGCCGCCACATGCAATGAACA	0.453000													18	144					0	0	0.012319	0	0
HLA-B	3106	broad.mit.edu	37	6	31323241	31323241	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr6:31323241G>C	ENST00000412585.2	-	4	776	c.748C>G	c.(748-750)Cag>Gag	p.Q250E		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCAGTGTCCTGAGTTTGGTCC	0.587000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				3	173					0	0	0.009096	0	0
LRP1B	53353	broad.mit.edu	37	2	141260574	141260574	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr2:141260574G>T	ENST00000389484.3	-	54	9591	c.8620C>A	c.(8620-8622)Cat>Aat	p.H2874N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2874	LDL-receptor class A 19.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D2873_H2874>EN(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATCAGAATGGTCAGGACAG	0.388000										TSP Lung(27;0.18)			6	57					0.00116845	0.00122705	0.001168	1	0
KIAA1755	85449	broad.mit.edu	37	20	36869715	36869715	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr20:36869715C>A	ENST00000279024.4	-	3	1089	c.818G>T	c.(817-819)gGa>gTa	p.G273V		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	273								p.G273V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CACATAGTCTCCCTCGAAGTC	0.572000													15	172					2.32078e-09	2.90098e-09	0.003163	1	0
CCNG2	901	broad.mit.edu	37	4	78080596	78080596	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr4:78080596C>T	ENST00000316355.5	+	3	571	c.215C>T	c.(214-216)tCt>tTt	p.S72F	CCNG2_ENST00000502280.1_Missense_Mutation_p.S72F|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000395640.1_Missense_Mutation_p.S72F|CCNG2_ENST00000509972.1_Missense_Mutation_p.S72F|CCNG2_ENST00000354403.5_Missense_Mutation_p.S72F	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	72					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTTTTGGATCTTGCACTGAA	0.343000													4	152					0	0	0.000602	0	0
CHD6	84181	broad.mit.edu	37	20	40053841	40053841	+	Silent	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr20:40053841G>A	ENST00000373233.3	-	29	4500	c.4323C>T	c.(4321-4323)ctC>ctT	p.L1441L		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1441					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.L1441L(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCTTGTTGATGAGGTCCATTT	0.507000													8	102					0	0	0.003080	0	0
SGOL2	151246	broad.mit.edu	37	2	201437199	201437199	+	Silent	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr2:201437199G>A	ENST00000357799.4	+	7	2228	c.2130G>A	c.(2128-2130)aaG>aaA	p.K710K		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	710					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAGTTAATAAGAAGCTTAGGC	0.338000													4	74					0	0	0.009096	0	0
KIAA0391	9692	broad.mit.edu	37	14	35739605	35739605	+	Splice_Site	SNP	A	A	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr14:35739605A>T	ENST00000557565.1	+	7	1805		c.e7-1		KIAA0391_ENST00000534898.4_Splice_Site|KIAA0391_ENST00000250377.7_Splice_Site|KIAA0391_ENST00000321130.10_Splice_Site|KIAA0391_ENST00000605870.1_Splice_Site|KIAA0391_ENST00000604948.1_Splice_Site|KIAA0391_ENST00000603544.1_Splice_Site			O15091	MRRP3_HUMAN	KIAA0391						tRNA processing	mitochondrion		p.?(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		TGCCTGGTTCAGCTCGGAGGA	0.498000													16	137					0	0	0.006122	0	0
ELFN2	114794	broad.mit.edu	37	22	37771375	37771375	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr22:37771375A>C	ENST00000402918.1	-	3	985	c.200T>G	c.(199-201)cTc>cGc	p.L67R	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.L67R	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	67						cell surface|integral to membrane		p.L67R(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CACGGCTTTGAGCTTGTTCTC	0.592000													11	140					0	0	0.013537	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762134	130762134	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr6:130762134G>T	ENST00000392429.1	+	2	2945	c.567G>T	c.(565-567)atG>atT	p.M189I	TMEM200A_ENST00000296978.3_Missense_Mutation_p.M189I|TMEM200A_ENST00000545622.1_Missense_Mutation_p.M189I	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	189						integral to membrane		p.M189I(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CTGGTTTGATGGGAGAAACAG	0.448000													11	96					0.00010058	0.000109043	0.013537	1	0
NLRP2	55655	broad.mit.edu	37	19	55481503	55481503	+	Silent	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr19:55481503G>A	ENST00000543010.1	+	2	263	c.120G>A	c.(118-120)caG>caA	p.Q40Q	NLRP2_ENST00000448584.2_Silent_p.Q40Q|NLRP2_ENST00000427260.2_Silent_p.Q40Q|NLRP2_ENST00000391721.4_Silent_p.Q40Q|NLRP2_ENST00000339757.7_Silent_p.Q40Q|NLRP2_ENST00000537859.1_Silent_p.Q40Q|NLRP2_ENST00000538819.1_Silent_p.Q40Q|NLRP2_ENST00000263437.6_Silent_p.Q40Q	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	40	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.Q40Q(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACGAGCTCCAGAAGATCCCCC	0.557000													9	137					0	0	0.006214	0	0
CCAR2	57805	broad.mit.edu	37	8	22472990	22472990	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr8:22472990C>T	ENST00000308511.4	+	12	1507	c.1258C>T	c.(1258-1260)Cag>Tag	p.Q420*	RP11-582J16.5_ENST00000521025.1_RNA|KIAA1967_ENST00000520861.1_Nonsense_Mutation_p.Q95*|KIAA1967_ENST00000389279.3_Nonsense_Mutation_p.Q420*			Q8N163	K1967_HUMAN		420					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCGGCGGCTTCAGACAGTGGT	0.597000													6	280					0	0	0.001984	0	0
FRMPD1	22844	broad.mit.edu	37	9	37730993	37730993	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr9:37730993G>T	ENST00000539465.1	+	9	1344	c.751G>T	c.(751-753)Gag>Tag	p.E251*	FRMPD1_ENST00000536622.1_Nonsense_Mutation_p.E73*|FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.E251*|FRMPD1_ENST00000541302.1_Nonsense_Mutation_p.E120*|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	251	FERM.					cytoskeleton|cytosol|plasma membrane		p.E251*(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGTAGAAAGGGAGGAGTCACA	0.488000													11	92					0.000151284	0.000163485	0.001855	1	0
GPR179	440435	broad.mit.edu	37	17	36485284	36485284	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr17:36485284C>G	ENST00000342292.4	-	11	4188	c.4168G>C	c.(4168-4170)Gag>Cag	p.E1390Q		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1390						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTCCCATCCTCGCCTCCTTCA	0.562000													8	330					0	0	0.003080	0	0
CSMD2	114784	broad.mit.edu	37	1	34128604	34128604	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:34128604C>G	ENST00000373381.4	-	26	4317	c.4141G>C	c.(4141-4143)Gag>Cag	p.E1381Q	CSMD2_ENST00000373380.1_Missense_Mutation_p.E254Q|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1341						integral to membrane|plasma membrane	protein binding	p.E1341Q(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCACTCAGCTCCTTCAGCAGA	0.602000													12	155					0	0	0.010729	0	0
PKD1L2	114780	broad.mit.edu	37	16	81236248	81236248	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr16:81236248G>A	ENST00000599697.1	-	6	999	c.1000C>T	c.(1000-1002)Cag>Tag	p.Q334*	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	334					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACCTGCCTCTGAGCTGTCACA	0.587000													4	58					0	0	0.000602	0	0
CXXC1	30827	broad.mit.edu	37	18	47810363	47810363	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr18:47810363C>G	ENST00000285106.6	-	10	2028	c.1314G>C	c.(1312-1314)caG>caC	p.Q438H	CXXC1_ENST00000412036.2_Missense_Mutation_p.Q442H|CXXC1_ENST00000589940.1_Missense_Mutation_p.Q438H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	438					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	p.Q438H(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TGCGGGCACTCTGCTGCTCTC	0.602000													8	202					0	0	0.004482	0	0
TNR	7143	broad.mit.edu	37	1	175372526	175372526	+	Silent	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:175372526C>A	ENST00000367674.1	-	4	1434	c.726G>T	c.(724-726)cgG>cgT	p.R242R	TNR_ENST00000263525.2_Silent_p.R242R	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	242	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.R242R(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGCAGAGCCCCCGGGAGCTGC	0.642000													17	138					9.16793e-09	1.1209e-08	0.004990	1	0
IL27RA	9466	broad.mit.edu	37	19	14153285	14153285	+	Silent	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr19:14153285C>A	ENST00000263379.2	+	5	680	c.555C>A	c.(553-555)acC>acA	p.T185T		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	185	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	p.T185T(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						AGCTGAAGACCATACCCCTGA	0.532000											OREG0025302	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	269					4.16121e-05	4.58555e-05	0.002780	1	0
LVRN	206338	broad.mit.edu	37	5	115329519	115329519	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr5:115329519G>A	ENST00000357872.4	+	6	1466	c.1342G>A	c.(1342-1344)Gta>Ata	p.V448I	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		448					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.V448I(1)									TGAGTTTGAAGTAATTAACTA	0.303000													6	58					0	0	0.001168	0	0
HAUS4	54930	broad.mit.edu	37	14	23424312	23424312	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr14:23424312G>A	ENST00000206474.7	-	2	304	c.52C>T	c.(52-54)Caa>Taa	p.Q18*	HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000490506.1_5'UTR|HAUS4_ENST00000342454.8_Nonsense_Mutation_p.Q18*|RP11-298I3.5_ENST00000555074.1_Intron|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000347758.2_Nonsense_Mutation_p.Q18*|HAUS4_ENST00000555367.1_Nonsense_Mutation_p.Q18*|HAUS4_ENST00000541587.1_Nonsense_Mutation_p.Q18*|HAUS4_ENST00000555986.1_Nonsense_Mutation_p.Q18*|HAUS4_ENST00000397409.4_Nonsense_Mutation_p.Q18*			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	18					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		p.Q18*(1)		breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						CTCTTACCTTGTTGAAGTATT	0.408000													12	235					0	0	0.001855	0	0
GPR98	84059	broad.mit.edu	37	5	89943510	89943510	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr5:89943510C>T	ENST00000405460.2	+	17	3314	c.3218C>T	c.(3217-3219)tCc>tTc	p.S1073F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1073	Calx-beta 8.				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	p.S1073F(1)|p.S1073C(1)		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)		CAGAGCATATCCATATTTGTT	0.383000													5	125					0	0	0.000602	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134239	91134239	+	Silent	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:91134239C>A	ENST00000373094.1	+	2	3845	c.3000C>A	c.(2998-3000)acC>acA	p.T1000T	PCDH11X_ENST00000361655.2_Silent_p.T1000T|PCDH11X_ENST00000395337.2_Silent_p.T1000T|PCDH11X_ENST00000406881.1_Silent_p.T1000T|PCDH11X_ENST00000373097.1_Silent_p.T1000T|PCDH11X_ENST00000373088.1_Silent_p.T1000T|PCDH11X_ENST00000361724.1_Silent_p.T1000T|PCDH11X_ENST00000298274.8_Silent_p.T1000T|PCDH11X_ENST00000504220.1_Silent_p.T1000T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1000					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.T1000T(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAGTGACGACCTTCGAGGTAC	0.433000													23	188					2.12542e-12	2.81429e-12	0.006320	1	0
LAMA4	3910	broad.mit.edu	37	6	112471753	112471753	+	Silent	SNP	T	T	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr6:112471753T>C	ENST00000230538.7	-	17	2530	c.2133A>G	c.(2131-2133)agA>agG	p.R711R	LAMA4_ENST00000522006.1_Silent_p.R704R|LAMA4_ENST00000389463.4_Silent_p.R704R|LAMA4_ENST00000424408.2_Silent_p.R704R	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	711	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.R704R(1)		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)		CATCACTGAGTCTGGTTTTAA	0.488000													15	91					0	0	0.002450	0	0
SEMA6B	10501	broad.mit.edu	37	19	4558145	4558145	+	Silent	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr19:4558145G>A	ENST00000586582.1	-	3	448	c.138C>T	c.(136-138)ccC>ccT	p.P46P	SEMA6B_ENST00000586965.1_Silent_p.P46P|SEMA6B_ENST00000301293.3_Silent_p.P46P	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	46	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.P46P(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACAAACACGGGATAGTGGT	0.637000											OREG0025169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	32					0	0	0.000602	0	0
ZNF318	24149	broad.mit.edu	37	6	43333100	43333100	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr6:43333100T>A	ENST00000361428.2	-	2	555	c.478A>T	c.(478-480)Agc>Tgc	p.S160C	ZNF318_ENST00000318149.3_Missense_Mutation_p.S160C	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	160					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.S160C(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCTGGTGTGCTAACACAGAAG	0.483000													20	129					0	0	0.008871	0	0
KALRN	8997	broad.mit.edu	37	3	124174058	124174058	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr3:124174058T>A	ENST00000360013.3	+	22	3708	c.3581T>A	c.(3580-3582)cTg>cAg	p.L1194Q	KALRN_ENST00000460856.1_Missense_Mutation_p.L1185Q|KALRN_ENST00000240874.3_Missense_Mutation_p.L1194Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1194					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.L1194Q(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTGATTCAGCTGGCCGATAGC	0.483000													16	90					0	0	0.004007	0	0
PSG4	5672	broad.mit.edu	37	19	43699270	43699270	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr19:43699270G>C	ENST00000405312.3	-	4	1102	c.865C>G	c.(865-867)Ccc>Gcc	p.P289A	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.P196A	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	289	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region		p.P289A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TTTTCAATGGGTCGCTTTACC	0.468000													30	428					0	0	0.011902	0	0
NEDD4L	23327	broad.mit.edu	37	18	55996303	55996303	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr18:55996303A>T	ENST00000456986.1	+	10	994	c.394A>T	c.(394-396)Agg>Tgg	p.R132W	NEDD4L_ENST00000586263.1_Missense_Mutation_p.R245W|NEDD4L_ENST00000431212.2_Missense_Mutation_p.R132W|NEDD4L_ENST00000356462.6_Missense_Mutation_p.R253W|NEDD4L_ENST00000435432.2_Missense_Mutation_p.R132W|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R245W|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256832.7_Missense_Mutation_p.R132W|NEDD4L_ENST00000456173.2_Missense_Mutation_p.R132W|NEDD4L_ENST00000256830.9_Missense_Mutation_p.R253W|NEDD4L_ENST00000400345.3_Missense_Mutation_p.R253W|NEDD4L_ENST00000382850.4_Missense_Mutation_p.R253W	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	253					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	p.R253W(2)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CCGCTCCCGCAGGCACATCAG	0.617000													5	50					0	0	0.000602	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162562	90162562	+	RNA	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr16:90162562G>T	ENST00000567960.1	+	0	1298				TUBB8P7_ENST00000564451.1_RNA														p.E432*(1)									GGCCGAGGAGGAGGATGAGGA	0.522000													17	197					5.3912e-06	6.14304e-06	0.006122	1	0
KIAA0100	9703	broad.mit.edu	37	17	26960091	26960091	+	Missense_Mutation	SNP	T	T	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr17:26960091T>G	ENST00000528896.2	-	20	3748	c.3674A>C	c.(3673-3675)cAt>cCt	p.H1225P	KIAA0100_ENST00000544884.1_Missense_Mutation_p.H1082P|KIAA0100_ENST00000389003.3_Missense_Mutation_p.H1082P	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1225						extracellular region		p.H1225P(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGTGACACTATGGTGATCATG	0.592000													10	77					0	0	0.008291	0	0
ST8SIA1	6489	broad.mit.edu	37	12	22408291	22408291	+	Silent	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr12:22408291G>A	ENST00000396037.4	-	3	895	c.414C>T	c.(412-414)tgC>tgT	p.C138C	ST8SIA1_ENST00000539510.1_Intron	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	138					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.C138F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CCACCACCGCGCATTTCTTCA	0.483000													16	152					0	0	0.008871	0	0
CRYBA4	1413	broad.mit.edu	37	22	27024278	27024278	+	Silent	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr22:27024278C>A	ENST00000354760.3	+	5	362	c.327C>A	c.(325-327)atC>atA	p.I109I	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	109	Beta/gamma crystallin 'Greek key' 3.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	p.I109I(1)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GGCTGACAATCTTCGAGCAAG	0.562000													14	118					2.94398e-08	3.56041e-08	0.007413	1	0
CLCA2	9635	broad.mit.edu	37	1	86890064	86890064	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:86890064T>A	ENST00000370565.4	+	1	296	c.134T>A	c.(133-135)aTt>aAt	p.I45N		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	45					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	p.I45N(1)		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)		GGATTGCTCATTGCAATTAAT	0.418000													7	68					0	0	0.003080	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68704151	68704151	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr11:68704151G>A	ENST00000255078.3	+	13	2314	c.2203G>A	c.(2203-2205)Gag>Aag	p.E735K		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	735	R3H.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CATGATAGTGGAGTTCATGGC	0.597000													4	55					0	0	0.009096	0	0
OR4C15	81309	broad.mit.edu	37	11	55321922	55321922	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr11:55321922C>A	ENST00000314644.2	+	1	140	c.140C>A	c.(139-141)gCt>gAt	p.A47D		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A47D(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CCTGTTGGAGCTTTCATCTTT	0.373000										HNSCC(20;0.049)			16	191					1.15088e-07	1.36235e-07	0.004007	1	0
DHX34	9704	broad.mit.edu	37	19	47870329	47870329	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr19:47870329G>T	ENST00000328771.4	+	7	2034	c.1685G>T	c.(1684-1686)cGg>cTg	p.R562L	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	562						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	p.R562L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CTCTACCTCCGGGACCAGGGG	0.632000													8	37					0.000673444	0.000711684	0.008291	1	0
GGNBP2	79893	broad.mit.edu	37	17	34937810	34937810	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr17:34937810G>T	ENST00000304718.4	+	9	1373	c.1057G>T	c.(1057-1059)Gaa>Taa	p.E353*		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	353					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		p.E353*(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TAGCAGATTGGAACAACTTTG	0.348000													11	148					6.40141e-05	6.98525e-05	0.010729	1	0
METTL4	64863	broad.mit.edu	37	18	2566837	2566837	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr18:2566837T>C	ENST00000319888.6	-	2	1177	c.379A>G	c.(379-381)Att>Gtt	p.I127V	METTL4_ENST00000574538.1_Missense_Mutation_p.I127V			Q8N3J2	METL4_HUMAN	methyltransferase like 4	127					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	p.I127V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ATAATAGAAATGGAGATTTCT	0.289000													4	39					0	0	0.009096	0	0
FAM9B	171483	broad.mit.edu	37	X	9001120	9001120	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:9001120G>A	ENST00000362066.3	-	1	231	c.43C>T	c.(43-45)Cca>Tca	p.P15S	FAM9B_ENST00000327220.5_Intron			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	0						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				CCCGAACCTGGTGAGCGCAAA	0.597000													5	42					0	0	0.000602	0	0
AMER1	139285	broad.mit.edu	37	X	63411089	63411089	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:63411089G>C	ENST00000330258.3	-	2	2350	c.2078C>G	c.(2077-2079)cCa>cGa	p.P693R	AMER1_ENST00000374869.3_Missense_Mutation_p.P693R|AMER1_ENST00000403336.1_Missense_Mutation_p.P693R	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)|p.P693R(2)									CCTCCAGTCTGGCTCGCTGCT	0.567000													12	96					0	0	0.001855	0	0
PHLDB2	90102	broad.mit.edu	37	3	111671462	111671462	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr3:111671462G>T	ENST00000431670.2	+	11	3086	c.2675G>T	c.(2674-2676)gGc>gTc	p.G892V	PHLDB2_ENST00000393925.3_Missense_Mutation_p.G892V|PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000412622.1_Missense_Mutation_p.G849V|PHLDB2_ENST00000481953.1_Missense_Mutation_p.G849V|PHLDB2_ENST00000393923.3_Missense_Mutation_p.G876V	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	892						cytoplasm|intermediate filament cytoskeleton|plasma membrane		p.G876V(1)|p.G892V(1)|p.G849V(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CATAAAGAAGGCCTCTATCTG	0.403000													13	83					0.00010058	0.000109043	0.013537	1	0
COL4A6	1288	broad.mit.edu	37	X	107400454	107400454	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:107400454G>T	ENST00000394872.2	-	45	5083	c.4852C>A	c.(4852-4854)Ctg>Atg	p.L1618M	COL4A6_ENST00000538570.1_Missense_Mutation_p.L1560M|COL4A6_ENST00000372216.4_Missense_Mutation_p.L1618M|COL4A6_ENST00000418180.1_Missense_Mutation_p.L152M|COL4A6_ENST00000545689.1_Missense_Mutation_p.L1593M|COL4A6_ENST00000334504.7_Missense_Mutation_p.L1617M			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1618	Collagen IV NC1.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.L1617M(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGTGAGACCAGGGACTGGCCT	0.592000									Alport syndrome with Diffuse Leiomyomatosis				20	143					1.90627e-21	2.62798e-21	0.012319	1	0
ABCB1	5243	broad.mit.edu	37	7	87179864	87179864	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr7:87179864C>T	ENST00000265724.3	-	12	1561	c.1144G>A	c.(1144-1146)Ggg>Agg	p.G382R	ABCB1_ENST00000543898.1_Missense_Mutation_p.G318R	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	382					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.G382R(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GGTTTGTGCCCACTCTTCGAA	0.328000													8	106					0	0	0.004482	0	0
KCNA1	3736	broad.mit.edu	37	12	5021622	5021622	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr12:5021622C>T	ENST00000382545.3	+	2	2185	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	360					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.P360S(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTCCAGTATCCCCGATGCTTT	0.537000													36	334					0	0	0.006999	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741283	140741283	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr5:140741283C>T	ENST00000522605.1	+	1	1581	c.1581C>T	c.(1579-1581)gcC>gcT	p.A527A	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1												p.A527A(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGCGCGCCTTCGAGCTCA	0.667000													9	59					0	0	0.006214	0	0
CCKBR	887	broad.mit.edu	37	11	6290956	6290956	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr11:6290956G>C	ENST00000525462.1	+	2	212	c.209G>C	c.(208-210)gGa>gCa	p.G70A	CCKBR_ENST00000334619.2_Missense_Mutation_p.G70A|CCKBR_ENST00000531712.1_3'UTR|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000525014.1_Missense_Mutation_p.G70A			P32239	GASR_HUMAN	cholecystokinin B receptor	70					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.G70A(2)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	ATGAGCGTTGGAGGAAATATG	0.552000													14	186					0	0	0.002450	0	0
ABCC1	4363	broad.mit.edu	37	16	16215882	16215882	+	Silent	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr16:16215882C>T	ENST00000399408.2	+	25	3646	c.3471C>T	c.(3469-3471)agC>agT	p.S1157S	ABCC1_ENST00000399410.3_Silent_p.S1147S|ABCC1_ENST00000346370.5_Silent_p.S1091S|ABCC1_ENST00000351154.5_Silent_p.S1088S|ABCC1_ENST00000349029.5_Silent_p.S1032S|ABCC1_ENST00000345148.5_Silent_p.S1147S			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1147	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.S1147S(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AGTCGGTCAGCCGCTCCCCGG	0.602000													3	43					0	0	0.004672	0	0
BTK	695	broad.mit.edu	37	X	100617167	100617167	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:100617167C>A	ENST00000308731.7	-	7	745	c.582G>T	c.(580-582)gaG>gaT	p.E194D	BTK_ENST00000372880.1_Missense_Mutation_p.E194D	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	194					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.E194D(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ATACCTGGTCCTCCTCAGGCG	0.468000									Agammaglobulinemia, X-linked				18	149					5.3912e-06	6.14304e-06	0.006122	1	0
PCDHA12	56137	broad.mit.edu	37	5	140255890	140255890	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr5:140255890C>T	ENST00000398631.2	+	1	833	c.833C>T	c.(832-834)tCc>tTc	p.S278F	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.S278F(2)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAATTTCCTATGGGATC	0.368000													8	292					0	0	0.004482	0	0
OR5B12	390191	broad.mit.edu	37	11	58207039	58207039	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr11:58207039C>A	ENST00000302572.2	-	1	607	c.586G>T	c.(586-588)Gtt>Ttt	p.V196F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V196F(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAAAAAATAACCATCTCACTG	0.398000													8	68					0.000157383	0.000168985	0.003080	1	0
TMEM132D	121256	broad.mit.edu	37	12	129559173	129559173	+	Silent	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr12:129559173G>C	ENST00000422113.2	-	9	2873	c.2547C>G	c.(2545-2547)ctC>ctG	p.L849L	TMEM132D_ENST00000389441.4_Silent_p.L387L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	849						integral to membrane		p.L849L(2)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTCCCTCCATGAGTCCCATAG	0.517000													4	106					0	0	0.009096	0	0
SYNE2	23224	broad.mit.edu	37	14	64574293	64574293	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr14:64574293G>C	ENST00000357395.3	+	66	12876	c.1732G>C	c.(1732-1734)Gaa>Caa	p.E578Q	SYNE2_ENST00000358025.3_Missense_Mutation_p.E4193Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E827Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4208Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E578Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.E4193Q			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4193					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.E4193Q(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCAAGGCCCAGAATGTTCCCT	0.438000													11	336					0	0	0.010729	0	0
CD33	945	broad.mit.edu	37	19	51728706	51728706	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr19:51728706C>A	ENST00000262262.4	+	2	291	c.270C>A	c.(268-270)ttC>ttA	p.F90L	CD33_ENST00000391796.3_Missense_Mutation_p.F90L|CD33_ENST00000421133.2_Intron|CD33_ENST00000436584.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	90	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	p.F90L(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AGGGCAGATTCCGCCTCCTTG	0.522000													13	142					9.31168e-06	1.04678e-05	0.001855	1	0
D2HGDH	728294	broad.mit.edu	37	2	242681862	242681862	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr2:242681862G>C	ENST00000321264.4	+	4	572	c.363G>C	c.(361-363)gaG>gaC	p.E121D	D2HGDH_ENST00000403782.1_5'UTR|D2HGDH_ENST00000537090.1_Missense_Mutation_p.E121D|D2HGDH_ENST00000342518.6_Missense_Mutation_p.E121D	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	121	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	p.E121D(1)		breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		ACTGCCACGAGAGGAACCTGG	0.652000													4	23					0	0	0.000602	0	0
AAK1	22848	broad.mit.edu	37	2	69734606	69734606	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr2:69734606G>C	ENST00000409085.4	-	15	2487	c.2111C>G	c.(2110-2112)tCc>tGc	p.S704C	AAK1_ENST00000409068.1_Intron|AAK1_ENST00000406297.3_Missense_Mutation_p.S704C	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	704						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	p.S704C(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						TGTGAGTTTGGAGAAATTATC	0.438000													4	30					0	0	0.009096	0	0
AMMECR1	9949	broad.mit.edu	37	X	109459811	109459811	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:109459811G>C	ENST00000262844.5	-	3	801	c.634C>G	c.(634-636)Cgg>Ggg	p.R212G	AMMECR1_ENST00000372059.2_Missense_Mutation_p.R175G|AMMECR1_ENST00000372057.1_Missense_Mutation_p.R89G	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	212	AMMECR1.							p.R212G(1)		large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						CAGAAAAGCCGTGGCAGCTCA	0.378000													5	85					0	0	0.001984	0	0
CCDC8	83987	broad.mit.edu	37	19	46915990	46915990	+	Silent	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr19:46915990G>C	ENST00000307522.3	-	1	851	c.78C>G	c.(76-78)gtC>gtG	p.V26V		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	26						plasma membrane		p.V26V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		gcttagagatgactctccaga	0.637000													5	86					0	0	0.000602	0	0
IRS4	8471	broad.mit.edu	37	X	107978239	107978239	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:107978239G>T	ENST00000372129.2	-	1	1412	c.1336C>A	c.(1336-1338)Cct>Act	p.P446T		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	446						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.P446T(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCTTCTGCAGGGTGCCGGGGA	0.607000													24	221					5.45024e-15	7.33265e-15	0.003330	1	0
TBC1D7	51256	broad.mit.edu	37	6	13307827	13307827	+	Splice_Site	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr6:13307827C>A	ENST00000607658.1	-	5	739		c.e5+1		TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Intron|TBC1D7_ENST00000356436.4_Intron|TBC1D7_ENST00000379307.2_Intron|TBC1D7_ENST00000379300.3_Intron			Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7						positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	p.?(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			GAAAGACCTACTTGCCTCTGT	0.453000													15	118					3.32936e-07	3.91346e-07	0.006122	1	0
MAPK15	225689	broad.mit.edu	37	8	144800454	144800454	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr8:144800454C>A	ENST00000338033.4	+	4	387	c.268C>A	c.(268-270)Ctg>Atg	p.L90M	RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395108.2_Missense_Mutation_p.L90M|MAPK15_ENST00000395107.4_Missense_Mutation_p.L90M	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	90	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	p.L109M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGACATTTACCTGGTGTTTGA	0.622000													7	75					3.86212e-05	4.27e-05	0.008291	1	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907940	12907940	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:12907940G>C	ENST00000317869.6	-	2	428	c.203C>G	c.(202-204)gCa>gGa	p.A68G		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ATCCTCTCCTGCTACAGCAGC	0.483000													4	283					0	0	0.000602	0	0
WDR5B	54554	broad.mit.edu	37	3	122134359	122134359	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr3:122134359G>A	ENST00000330689.4	-	1	523	c.17C>T	c.(16-18)tCa>tTa	p.S6L		NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	6								p.S6L(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		GGCGTCTCTTGACTCCTTGGT	0.522000													26	190					0	0	0.005443	0	0
ETV3L	440695	broad.mit.edu	37	1	157062649	157062649	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr1:157062649delC	ENST00000454449.2	-	5	1162	c.878delG	c.(877-879)gafs	p.G293fs		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	293						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CGCACCCTGTCCCAGCCCTGC	0.632													7	104	---	---	---	---					
USP34	9736	broad.mit.edu	37	2	61633065	61633068	+	Frame_Shift_Del	DEL	CTCT	CTCT	-			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr2:61633065_61633068delCTCT	ENST00000398571.2	-	3	403_406	c.327_330delAGAG	c.(325-330)agfs	p.RE109fs		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	109					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTTCATTACACTCTCTATCTATAT	0.363													19	176	---	---	---	---					
ZNF2	7549	broad.mit.edu	37	2	95847781	95847782	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr2:95847781_95847782insT	ENST00000398107.2	+	4	1604_1605	c.1082_1083insT	c.(1081-1083)tggfs	p.W361fs	ZNF2_ENST00000340539.5_Frame_Shift_Ins_p.W403fs|ZNF2_ENST00000453539.2_Frame_Shift_Ins_p.W416fs|ZNF2_ENST00000425369.1_Frame_Shift_Ins_p.W323fs|ZNF2_ENST00000295210.6_Frame_Shift_Ins_p.W365fs	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		TGCACTGTGTGTGGGAAAGTTT	0.505													14	174	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89624246	89624247	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr10:89624246_89624247insG	ENST00000371953.3	+	1	1377_1378	c.20_21insG	c.(19-21)gatfs	p.D7fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	7					activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.A3fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATCATCAAAGAGATCGTTAGCA	0.490		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			20	133	---	---	---	---					
LMTK3	114783	broad.mit.edu	37	19	49000878	49000886	+	In_Frame_Del	DEL	GCGGTGGCG	GCGGTGGCG	-	rs72345662		TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chr19:49000878_49000886delGCGGTGGCG	ENST00000600059.1	-	11	3667_3675	c.3440_3448delCGCCACCGC	c.(3439-3450)ctg>c	p.PPPL1147del	LMTK3_ENST00000270238.3_In_Frame_Del_p.PPPL1176del					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		ggcggtggcagcggtggcggcggtggctg	0.780													4	3	---	---	---	---					
AFF2	2334	broad.mit.edu	37	X	147743758	147743758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	ebdccc89-c595-4918-aea3-3296b84b241e	g.chrX:147743758delG	ENST00000370460.2	+	3	989	c.510delG	c.(508-510)ctfs	p.L170fs	AFF2_ENST00000342251.3_Frame_Shift_Del_p.L166fs|AFF2_ENST00000370457.5_Frame_Shift_Del_p.L166fs|AFF2_ENST00000370458.1_Frame_Shift_Del_p.L166fs	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	170					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.L170L(2)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GCACTGTACTGGCAAGCCAGG	0.468													26	260	---	---	---	---					
UBXN11	91544	broad.mit.edu	37	1	26608820	26608843	+	In_Frame_Del	DEL	GGGACTGGGGCCGGGACCGGGACC	GGGACTGGGGCCGGGACCGGGACC	-	rs66614970	by1000genomes	TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:26608820_26608843delGGGACTGGGGCCGGGACCGGGACC	ENST00000314675.7	-	11	1229_1252	c.1150_1173delGGTCCCGGTCCCGGCCCCAGTCCC	c.(1150-1173)del	p.GPGPGPSP384del	UBXN11_ENST00000357089.4_In_Frame_Del_p.GPGPGPSP471del|UBXN11_ENST00000374221.3_In_Frame_Del_p.GPGPGPSP504del|UBXN11_ENST00000374217.2_In_Frame_Del_p.GPGPGPSP471del|UBXN11_ENST00000374222.1_In_Frame_Del_p.GPGPGPSP504del|UBXN11_ENST00000374223.1_In_Frame_Del_p.GPGPGPSP261del	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	504						cytoplasm|cytoskeleton		p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gtccaggacagggactggggccgggaccgggaccgggactgggg	0.714													28	86	---	---	---	---					
ETV3L	440695	broad.mit.edu	37	1	157062649	157062649	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr1:157062649delC	ENST00000454449.2	-	5	1162	c.878delG	c.(877-879)gafs	p.G293fs		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	293						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CGCACCCTGTCCCAGCCCTGC	0.632													7	104	---	---	---	---					
TAF1B	9014	broad.mit.edu	37	2	9989571	9989571	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr2:9989571delA	ENST00000263663.5	+	3	375	c.187delA	c.(187-189)aafs	p.K65fs	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	65					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCGGGGGCTTAAAAAAAAAAA	0.333													2	4	---	---	---	---					
USP34	9736	broad.mit.edu	37	2	61633065	61633068	+	Frame_Shift_Del	DEL	CTCT	CTCT	-			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr2:61633065_61633068delCTCT	ENST00000398571.2	-	3	403_406	c.327_330delAGAG	c.(325-330)agfs	p.RE109fs		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	109					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTTCATTACACTCTCTATCTATAT	0.363													19	176	---	---	---	---					
ZNF2	7549	broad.mit.edu	37	2	95847781	95847782	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr2:95847781_95847782insT	ENST00000398107.2	+	4	1604_1605	c.1082_1083insT	c.(1081-1083)tggfs	p.W361fs	ZNF2_ENST00000453539.2_Frame_Shift_Ins_p.W416fs|ZNF2_ENST00000340539.5_Frame_Shift_Ins_p.W403fs|ZNF2_ENST00000295210.6_Frame_Shift_Ins_p.W365fs|ZNF2_ENST00000425369.1_Frame_Shift_Ins_p.W323fs	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		TGCACTGTGTGTGGGAAAGTTT	0.505													14	174	---	---	---	---					
UBXN8	7993	broad.mit.edu	37	8	30612474	30612474	+	RNA	DEL	T	T	-			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr8:30612474delT	ENST00000519246.1	+	0	604							O00124	UBXN8_HUMAN	UBX domain protein 8						single fertilization					central_nervous_system(1)|lung(2)	3						GGGTTGGTCGttttttttttt	0.393													2	4	---	---	---	---					
ODF1	4956	broad.mit.edu	37	8	103572984	103572992	+	In_Frame_Del	DEL	TGCAGCCCC	TGCAGCCCC	-	rs3018444	byFrequency	TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr8:103572984_103572992delTGCAGCCCC	ENST00000285402.3	+	2	781_789	c.625_633delTGCAGCCCC	c.(625-633)del	p.CSP215del	ODF1_ENST00000518835.1_Splice_Site_p.3_splice	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	215	C-X-P repeat region.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CACTTCTCCTtgcagcccctgcagcccct	0.584													16	78	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89624246	89624247	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr10:89624246_89624247insG	ENST00000371953.3	+	1	1377_1378	c.20_21insG	c.(19-21)gatfs	p.D7fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	7					activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.A3fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATCATCAAAGAGATCGTTAGCA	0.490		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			20	133	---	---	---	---					
PRB1	5542	broad.mit.edu	37	12	11506229	11506231	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr12:11506229_11506231delTGC	ENST00000500254.2	-	4	444_446	c.407_409delGCA	c.(406-411)aag>a	p.SK136del	PRB1_ENST00000546254.1_In_Frame_Del_p.SK136del|PRB1_ENST00000545626.1_In_Frame_Del_p.SK116del	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	330	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTTGGGACTTGCTGCCTCCTTG	0.596													22	849	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690386	75690388	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr16:75690386_75690388delTCC	ENST00000300086.4	+	3	1174_1176	c.1077_1079delTCC	c.(1075-1080)tac>ta	p.YP359del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	359					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CTGATGGATATCCCATTTGGTCC	0.453													9	360	---	---	---	---					
APCDD1L-AS1	149773	broad.mit.edu	37	20	57159887	57159888	+	RNA	INS	-	-	CTTC	rs142796198	by1000genomes	TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr20:57159887_57159888insCTTC	ENST00000427140.1	+	0	943					NR_034147.1																						ctcccttctttcttccttcctt	0.535													3	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085949	11085960	+	RNA	DEL	CACCACCATCAA	CACCACCATCAA	-	rs28492045	by1000genomes	TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chr21:11085949_11085960delCACCACCATCAA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tcaccaccaccaccaccatcaacaccacACTG	0.500													5	7	---	---	---	---					
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-	rs6614551		TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:50350711_50350713delTCC	ENST00000376020.2	-	6	3454_3456	c.3429_3431delGGA	c.(3427-3432)gaa>ga	p.EE1149del	SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1149	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547													8	36	---	---	---	---					
AFF2	2334	broad.mit.edu	37	X	147743758	147743758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:147743758delG	ENST00000370460.2	+	3	989	c.510delG	c.(508-510)ctfs	p.L170fs	AFF2_ENST00000370458.1_Frame_Shift_Del_p.L166fs|AFF2_ENST00000342251.3_Frame_Shift_Del_p.L166fs|AFF2_ENST00000370457.5_Frame_Shift_Del_p.L166fs	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	170					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.L170L(2)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GCACTGTACTGGCAAGCCAGG	0.468													26	260	---	---	---	---					
FAM58A	92002	broad.mit.edu	37	X	152864513	152864514	+	Splice_Site	INS	-	-	C			TCGA-44-3398-01A-01D-1105-08	TCGA-44-3398-11B-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82284bb3-2dfa-4016-a908-3b5994e00d31	f834c518-d738-4383-846d-4a709038e3d5	g.chrX:152864513_152864514insC	ENST00000406277.2	-	1	118		c.e1+1		FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A						regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCTCCGCCGCCTCCGGGGCT	0.762													4	2	---	---	---	---					
