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
VPS9D1	9605	broad.mit.edu	37	16	89775334	89775334	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr16:89775334G>A	ENST00000561976.1	-	12	1795	c.1418C>T	c.(1417-1419)gCg>gTg	p.A473V	VPS9D1_ENST00000389386.3_Missense_Mutation_p.A543V					VPS9 domain containing 1									p.A543V(1)									GTAGTCTTCCGCACAGACACA	0.682000													6	5					0	0	0.029380	0	0
KEAP1	9817	broad.mit.edu	37	19	10602335	10602335	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr19:10602335G>A	ENST00000171111.5	-	3	1790	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	KEAP1_ENST00000393623.2_Missense_Mutation_p.R415C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.R415C(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			ACCCCGATGCGGTTACGGGGC	0.657000													8	8					0	0	0.047766	0	0
CUL2	8453	broad.mit.edu	37	10	35320243	35320243	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr10:35320243C>G	ENST00000374748.1	-	15	1684	c.1371G>C	c.(1369-1371)atG>atC	p.M457I	CUL2_ENST00000374742.1_Missense_Mutation_p.M457I|CUL2_ENST00000602371.1_Missense_Mutation_p.M400I|CUL2_ENST00000537177.1_Missense_Mutation_p.M476I|CUL2_ENST00000374751.3_Missense_Mutation_p.M457I|CUL2_ENST00000374746.1_Missense_Mutation_p.M457I|CUL2_ENST00000374749.3_Missense_Mutation_p.M457I			Q13617	CUL2_HUMAN	cullin 2	457					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	p.M457I(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						ATTTGTTGATCATGGCTTCTT	0.323000													15	18					0	0	0.119110	0	0
DNAJC6	9829	broad.mit.edu	37	1	65851414	65851414	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:65851414G>T	ENST00000395325.3	+	7	806	c.649G>T	c.(649-651)Gac>Tac	p.D217Y	DNAJC6_ENST00000371069.4_Missense_Mutation_p.D274Y|DNAJC6_ENST00000498720.1_3'UTR|DNAJC6_ENST00000263441.7_Missense_Mutation_p.D204Y	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	217	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	p.C216_D217>*(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CTATATGTGTGACCTACTGGC	0.463000													8	50					0.000157383	0.00017218	0.038147	1	0
SAGE1	55511	broad.mit.edu	37	X	134990731	134990731	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chrX:134990731A>T	ENST00000535938.1	+	12	1563	c.1396A>T	c.(1396-1398)Aat>Tat	p.N466Y	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Missense_Mutation_p.N466Y|SAGE1_ENST00000324447.3_Missense_Mutation_p.N466Y	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	466								p.N466Y(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CGGGCTTATTAATATGGCAGG	0.413000													73	56					0	0	0.139131	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	144977	144977	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr5:144977T>C	ENST00000283426.6	+	4	829	c.779T>C	c.(778-780)gTg>gCg	p.V260A		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	260					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.V260A(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GTTGTCCTGGTGGATGCACGC	0.567000													16	36					0	0	0.146539	0	0
LCE1B	353132	broad.mit.edu	37	1	152785211	152785211	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:152785211A>G	ENST00000360090.3	+	1	765	c.289A>G	c.(289-291)Agc>Ggc	p.S97G		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	97	Gly-rich.				keratinization			p.S97G(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGCTGCTGCAGCCAGCCCTC	0.647000													50	46					0	0	0.139131	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36159051	36159051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr14:36159051G>A	ENST00000258840.6	-	18	2956	c.2566C>T	c.(2566-2568)Cga>Tga	p.R856*	RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.R809*|RALGAPA1_ENST00000389698.3_Nonsense_Mutation_p.R809*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.R809*			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	809					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	p.R809*(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTTTGGCTCGTTCAACAGTG	0.458000													37	24					0	0	0.098360	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487	by1000genomes	TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667000													5	47					0	0	0.038147	0	0
KIAA1549	57670	broad.mit.edu	37	7	138554409	138554409	+	Silent	SNP	T	T	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr7:138554409T>C	ENST00000440172.1	-	14	4698	c.4650A>G	c.(4648-4650)gtA>gtG	p.V1550V	KIAA1549_ENST00000422774.1_Silent_p.V1550V|KIAA1549_ENST00000242365.4_Silent_p.V1500V	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1550						integral to membrane		p.V1500V(1)|p.V1550V(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACAGGTCGTCTACCACCGGGA	0.642000			O	BRAF	pilocytic astrocytoma								5	22					0	0	0.038147	0	0
DRD2	1813	broad.mit.edu	37	11	113288792	113288792	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr11:113288792A>G	ENST00000362072.3	-	3	696	c.352T>C	c.(352-354)Tgc>Cgc	p.C118R	DRD2_ENST00000346454.3_Missense_Mutation_p.C118R|DRD2_ENST00000544518.1_Missense_Mutation_p.C117R|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000355319.2_Missense_Mutation_p.C118R|DRD2_ENST00000542968.1_Missense_Mutation_p.C118R|DRD2_ENST00000538967.1_Missense_Mutation_p.C118R	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	118					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.C118R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CTCGCCGTGCACATCATGACG	0.552000													8	29					0	0	0.058154	0	0
KIAA1009	22832	broad.mit.edu	37	6	84862734	84862734	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr6:84862734T>A	ENST00000403245.3	-	23	3273	c.3159A>T	c.(3157-3159)aaA>aaT	p.K1053N	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.K977N	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	1053					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	p.K1053N(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CATTCTGATGTTTAAGAACGT	0.383000													15	18					0	0	0.146539	0	0
HMX3	340784	broad.mit.edu	37	10	124896850	124896850	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr10:124896850G>A	ENST00000357878.5	+	2	766	c.677G>A	c.(676-678)cGc>cAc	p.R226H		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	226					cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity	p.R226H(1)		lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CCGGCGTGCCGCAAGAAGAAG	0.672000													4	5					0	0	0.150653	0	0
MDGA2	161357	broad.mit.edu	37	14	47600918	47600918	+	Splice_Site	SNP	T	T	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr14:47600918T>A	ENST00000426342.1	-	5	776	c.31_splice	c.e5+1	p.T10_splice	MDGA2_ENST00000399232.2_Splice_Site_p.T308_splice|MDGA2_ENST00000439988.2_Splice_Site_p.T239_splice|MDGA2_ENST00000357362.3_Splice_Site_p.T10_splice	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	239					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.T10T(2)|p.T308T(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATTCCATACCTGTTTTATTGG	0.328000													15	10					0	0	0.175082	0	0
PLG	5340	broad.mit.edu	37	6	161162365	161162365	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr6:161162365G>T	ENST00000308192.9	+	17	2104	c.2041G>T	c.(2041-2043)Gta>Tta	p.V681L		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	681	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.V681L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CACTGACAAAGTAATCCCAGC	0.493000													26	18					7.01153e-11	8.23373e-11	0.125774	1	0
UBR4	23352	broad.mit.edu	37	1	19501491	19501491	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:19501491G>A	ENST00000375267.2	-	21	2813	c.2810C>T	c.(2809-2811)tCc>tTc	p.S937F	UBR4_ENST00000375254.3_Missense_Mutation_p.S937F|UBR4_ENST00000375226.2_Missense_Mutation_p.S937F|UBR4_ENST00000375217.2_Missense_Mutation_p.S937F			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	937					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.S937F(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCTTCTGGGGACAGGACACA	0.403000													37	34					0	0	0.086207	0	0
TFIP11	24144	broad.mit.edu	37	22	26892780	26892780	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr22:26892780C>T	ENST00000407690.1	-	11	1795	c.1512G>A	c.(1510-1512)atG>atA	p.M504I	TFIP11_ENST00000407431.1_Missense_Mutation_p.M504I|TFIP11_ENST00000407148.1_Missense_Mutation_p.M504I|TFIP11_ENST00000405938.1_Missense_Mutation_p.M504I	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	504					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	p.M504I(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AAAAGTCCACCATCGGGTCAC	0.478000													11	80					0	0	0.080935	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716785	142716785	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chrX:142716785G>T	ENST00000381779.4	-	2	2365	c.2140C>A	c.(2140-2142)Cct>Act	p.P714T	SLITRK4_ENST00000338017.4_Missense_Mutation_p.P714T|SLITRK4_ENST00000356928.1_Missense_Mutation_p.P714T	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	714						integral to membrane		p.P714T(2)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCCTGGAGGATCTGAAAAC	0.423000													61	40					2.44813e-32	3.19756e-32	0.139131	1	0
REG1B	5968	broad.mit.edu	37	2	79314689	79314689	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr2:79314689A>G	ENST00000305089.3	-	2	130	c.50T>C	c.(49-51)cTg>cCg	p.L17P		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	17					cell proliferation	extracellular region	sugar binding	p.L17P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GCTCAGAGACAGGAACATCAG	0.468000													9	27					0	0	0.047766	0	0
ANK2	287	broad.mit.edu	37	4	114209548	114209548	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr4:114209548G>T	ENST00000357077.4	+	20	2236	c.2183G>T	c.(2182-2184)gGt>gTt	p.G728V	ANK2_ENST00000506722.1_Missense_Mutation_p.G707V|ANK2_ENST00000264366.6_Missense_Mutation_p.G728V|ANK2_ENST00000394537.3_Missense_Mutation_p.G728V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	728					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.G728V(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTACAGCTTGGTTACACACCT	0.358000													31	32					1.61788e-16	2.01057e-16	0.163468	1	0
CNTLN	54875	broad.mit.edu	37	9	17415873	17415873	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr9:17415873A>T	ENST00000380647.3	+	17	2968	c.2884A>T	c.(2884-2886)Act>Tct	p.T962S	CNTLN_ENST00000262360.5_Missense_Mutation_p.T962S|CNTLN_ENST00000425824.1_Missense_Mutation_p.T962S			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	962						centriole|membrane	two-component sensor activity	p.T962S(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGCAGTTCCTACTAGAGGTAA	0.269000													24	24					0	0	0.091800	0	0
ZHX2	22882	broad.mit.edu	37	8	123964400	123964400	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr8:123964400G>T	ENST00000314393.4	+	3	1485	c.650G>T	c.(649-651)cGc>cTc	p.R217L		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	217	Required for homodimerization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R217L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GGGACCGCCCGCCTGGTGACA	0.592000													26	73					1.50538e-07	1.72044e-07	0.116897	1	0
NPY1R	4886	broad.mit.edu	37	4	164247323	164247323	+	Missense_Mutation	SNP	A	A	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr4:164247323A>C	ENST00000296533.2	-	2	915	c.384T>G	c.(382-384)atT>atG	p.I128M	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	128					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.I128M(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCAGAGAGAAAATGGACACAG	0.423000													12	61					0	0	0.080935	0	0
OVOS2	144203	broad.mit.edu	37	12	31267720	31267720	+	RNA	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr12:31267720A>G	ENST00000542490.1	-	0	757																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						TTTTATCTTTATACTCTATGT	0.318000													12	9					0	0	0.080935	0	0
TRPV5	56302	broad.mit.edu	37	7	142605736	142605736	+	Silent	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr7:142605736A>G	ENST00000265310.1	-	15	2482	c.2134T>C	c.(2134-2136)Ttg>Ctg	p.L712L		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	712	Involved in Ca(2+)-dependent inactivation (By similarity).		L -> F (in dbSNP:rs4252509).		protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.L712L(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)					CCAAGATTCAAGTGCCCCAGG	0.552000													27	46					0	0	0.134883	0	0
EML4	27436	broad.mit.edu	37	2	42552612	42552612	+	Silent	SNP	T	T	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr2:42552612T>C	ENST00000318522.5	+	20	2422	c.2160T>C	c.(2158-2160)caT>caC	p.H720H	EML4_ENST00000401738.3_Silent_p.H731H|EML4_ENST00000402711.2_Silent_p.H662H|EML4_ENST00000453191.2_5'UTR	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	720					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	p.H720H(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TCTAGGGACATTCCAGCTACA	0.348000			T	ALK	NSCLC								3	10					0	0	0.115264	0	0
GABBR2	9568	broad.mit.edu	37	9	101068494	101068494	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr9:101068494G>A	ENST00000259455.2	-	15	2597	c.2138C>T	c.(2137-2139)aCc>aTc	p.T713I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	713					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.T713I(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CTGGTCCCGGGTCAGGAAGGA	0.577000													8	9					0	0	0.038147	0	0
UBIAD1	29914	broad.mit.edu	37	1	11333871	11333871	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:11333871C>A	ENST00000376810.5	+	1	609	c.283C>A	c.(283-285)Cac>Aac	p.H95N	UBIAD1_ENST00000376804.2_Missense_Mutation_p.H95N	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	95					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity	p.H95N(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		CCTGGCTGTGCACGGGGCCGG	0.567000													34	47					1.04594e-18	1.31255e-18	0.086207	1	0
TGFBRAP1	9392	broad.mit.edu	37	2	105883921	105883921	+	Silent	SNP	T	T	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr2:105883921T>C	ENST00000393359.2	-	12	2928	c.2502A>G	c.(2500-2502)ccA>ccG	p.P834P	TGFBRAP1_ENST00000258449.1_Silent_p.P834P			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	834					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	p.P834P(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GACCACCATTTGGGTATCTAA	0.493000													42	53					0	0	0.111260	0	0
DNAJC6	9829	broad.mit.edu	37	1	65851413	65851413	+	Nonsense_Mutation	SNP	T	T	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:65851413T>A	ENST00000395325.3	+	7	805	c.648T>A	c.(646-648)tgT>tgA	p.C216*	DNAJC6_ENST00000371069.4_Nonsense_Mutation_p.C273*|DNAJC6_ENST00000498720.1_3'UTR|DNAJC6_ENST00000263441.7_Nonsense_Mutation_p.C203*	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	216	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	p.C216_D217>*(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GCTATATGTGTGACCTACTGG	0.458000													8	48					0	0	0.038147	0	0
CALCOCO2	10241	broad.mit.edu	37	17	46940221	46940221	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr17:46940221A>G	ENST00000258947.3	+	13	1296	c.1195A>G	c.(1195-1197)Atc>Gtc	p.I399V	CALCOCO2_ENST00000509507.1_Missense_Mutation_p.I420V|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.I423V|CALCOCO2_ENST00000508679.1_Missense_Mutation_p.I327V|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.I357V	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	399	Interaction with MYO6.				response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity	p.I399V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						GAAATGCCCTATCTGCAAAGC	0.453000													73	27					0	0	0.139131	0	0
RBM12B	389677	broad.mit.edu	37	8	94747222	94747222	+	Nonsense_Mutation	SNP	T	T	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr8:94747222T>A	ENST00000399300.2	-	3	1630	c.1417A>T	c.(1417-1419)Aga>Tga	p.R473*	RBM12B_ENST00000517700.1_Nonsense_Mutation_p.R473*|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	473	RRM 3.						nucleotide binding|RNA binding	p.R473*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GATATAAGTCTTAATAACACC	0.418000													96	175					0	0	0.139131	0	0
OR2T34	127068	broad.mit.edu	37	1	248737471	248737471	+	Silent	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:248737471G>A	ENST00000328782.2	-	1	609	c.588C>T	c.(586-588)gaC>gaT	p.D196D		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D196E(1)|p.D196D(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAGGGAGACGTCAGAGCAGG	0.517000													45	83					0	0	0.131918	0	0
FBXL17	64839	broad.mit.edu	37	5	107700656	107700656	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr5:107700656T>C	ENST00000542267.1	-	3	1563	c.1157A>G	c.(1156-1158)cAg>cGg	p.Q386R	FBXL17_ENST00000496714.1_5'UTR|FBXL17_ENST00000359660.5_5'UTR	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	386								p.Q386R(1)		endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		AATTATATTCTGACTTCTTGA	0.308000													18	28					0	0	0.043863	0	0
BCAN	63827	broad.mit.edu	37	1	156628466	156628466	+	Silent	SNP	C	C	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:156628466C>A	ENST00000329117.4	+	13	2905	c.2569C>A	c.(2569-2571)Cga>Aga	p.R857R	BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	857	Sushi.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.(=)(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCGCTGATCCGATGCCAAGA	0.637000													48	92					1.11015e-26	1.43534e-26	0.139131	1	0
PPP1R3D	5509	broad.mit.edu	37	20	58514506	58514506	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr20:58514506G>A	ENST00000370996.3	-	1	846	c.481C>T	c.(481-483)Ccg>Tcg	p.P161S	FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	161					glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity	p.P161S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			TCGACGGGCGGCGGGAAATCG	0.677000													3	11					0	0	0.115264	0	0
MAL	4118	broad.mit.edu	37	2	95715324	95715324	+	Splice_Site	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr2:95715324A>G	ENST00000309988.4	+	3	370		c.e3-1		MAL_ENST00000353004.3_Intron|MAL_ENST00000354078.3_Splice_Site|MAL_ENST00000349807.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein						apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath	p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		TCTGCCCCATAGGACGCAGCC	0.657000													21	33					0	0	0.083992	0	0
SPEF2	79925	broad.mit.edu	37	5	35670182	35670182	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr5:35670182G>T	ENST00000440995.2	+	10	1377	c.1377G>T	c.(1375-1377)atG>atT	p.M459I	SPEF2_ENST00000509059.1_Missense_Mutation_p.M459I|SPEF2_ENST00000356031.3_Missense_Mutation_p.M459I|SPEF2_ENST00000282469.6_Missense_Mutation_p.M459I			Q9C093	SPEF2_HUMAN	sperm flagellar 2	459					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.M459I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATAAGTTGATGCATGATTGGA	0.323000													25	64					6.36457e-07	7.20943e-07	0.091800	1	0
NFIA	4774	broad.mit.edu	37	1	61869785	61869785	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:61869785A>T	ENST00000403491.3	+	8	1569	c.1085A>T	c.(1084-1086)cAt>cTt	p.H362L	NFIA_ENST00000407417.3_Missense_Mutation_p.H354L|NFIA_ENST00000485903.2_Missense_Mutation_p.H319L|NFIA_ENST00000371184.2_Missense_Mutation_p.H233L|NFIA_ENST00000371185.2_Missense_Mutation_p.H340L|NFIA_ENST00000371187.3_Missense_Mutation_p.H362L|NFIA_ENST00000371189.4_Missense_Mutation_p.H407L|NFIA_ENST00000371191.1_Missense_Mutation_p.H385L|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000357977.5_Missense_Mutation_p.H10L	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	362					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.H362L(1)|p.H407L(1)	NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GCAAGTCCGCATGCAACACCA	0.488000													25	120					0	0	0.108266	0	0
NUDT7	283927	broad.mit.edu	37	16	77775669	77775669	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr16:77775669C>G	ENST00000268533.5	+	4	608	c.539C>G	c.(538-540)cCt>cGt	p.P180R	NUDT7_ENST00000563839.1_3'UTR|NUDT7_ENST00000437314.3_Missense_Mutation_p.P127R|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000564085.1_3'UTR	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	180					nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding	p.P180R(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TACACAAACCCTGAAGACGGT	0.453000													19	30					0	0	0.043863	0	0
MYL10	93408	broad.mit.edu	37	7	101266291	101266291	+	Missense_Mutation	SNP	G	G	T	rs144539367	byFrequency	TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr7:101266291G>T	ENST00000223167.4	-	4	512	c.335C>A	c.(334-336)aCc>aAc	p.T112N		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	112	EF-hand 1.					mitochondrion	calcium ion binding	p.T112N(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CGCGGCAAAGGTGTCCCTCAA	0.627000													12	21					7.93312e-07	8.90736e-07	0.119110	1	0
PPP3CA	5530	broad.mit.edu	37	4	101953470	101953470	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr4:101953470C>A	ENST00000394854.3	-	12	1976	c.1293G>T	c.(1291-1293)atG>atT	p.M431I	PPP3CA_ENST00000512215.1_Missense_Mutation_p.M199I|PPP3CA_ENST00000507176.1_Missense_Mutation_p.M333I|PPP3CA_ENST00000323055.6_Missense_Mutation_p.M389I|PPP3CA_ENST00000523694.2_Missense_Mutation_p.M364I|PPP3CA_ENST00000394853.4_Missense_Mutation_p.M431I	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	431					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	p.M431I(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		CGCTGGGGAGCATGCCAGTTG	0.522000													9	12					0.000673444	0.000724377	0.069234	1	0
ABCA12	26154	broad.mit.edu	37	2	215862422	215862422	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr2:215862422A>T	ENST00000272895.7	-	23	3510	c.3291T>A	c.(3289-3291)caT>caA	p.H1097Q	ABCA12_ENST00000389661.4_Missense_Mutation_p.H779Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1097					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.H1097Q(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AACATACCTCATGAAGCCGGA	0.358000													27	17					0	0	0.091800	0	0
RYR2	6262	broad.mit.edu	37	1	237787114	237787114	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:237787114C>A	ENST00000366574.2	+	39	6283	c.5966C>A	c.(5965-5967)cCa>cAa	p.P1989Q	RYR2_ENST00000360064.6_Missense_Mutation_p.P1987Q|RYR2_ENST00000542537.1_Missense_Mutation_p.P1973Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1989	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.P1987Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTCCATGTCCAGAAGAAATT	0.318000													25	26					6.32553e-13	7.56699e-13	0.099896	1	0
TRIM60	166655	broad.mit.edu	37	4	165962548	165962548	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr4:165962548G>T	ENST00000512596.1	+	3	1540	c.1324G>T	c.(1324-1326)Gat>Tat	p.D442Y	TRIM60_ENST00000508504.1_Missense_Mutation_p.D442Y|TRIM60_ENST00000341062.5_Missense_Mutation_p.D442Y	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	442	B30.2/SPRY.					intracellular	zinc ion binding	p.D442Y(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TACTTTTAACGATTGTTTCAC	0.343000													33	29					5.60225e-13	6.76498e-13	0.144211	1	0
TMEM79	84283	broad.mit.edu	37	1	156255080	156255080	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:156255080C>G	ENST00000405535.2	+	2	234	c.63C>G	c.(61-63)agC>agG	p.S21R	TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000295694.5_Missense_Mutation_p.S21R|TMEM79_ENST00000357501.2_Intron	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	21						integral to membrane		p.S21R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					CAGAGAAGAGCTCACCCCAGG	0.602000													37	48					0	0	0.086207	0	0
KCNMB4	27345	broad.mit.edu	37	12	70794043	70794043	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr12:70794043A>G	ENST00000258111.4	+	2	850	c.391A>G	c.(391-393)Atg>Gtg	p.M131V		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	131					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding	p.M131V(1)		kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GGAAAGTGTCATGAATTGGCA	0.348000													52	73					0	0	0.139131	0	0
SMARCE1	6605	broad.mit.edu	37	17	38787102	38787102	+	Silent	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr17:38787102G>A	ENST00000348513.6	-	10	1671	c.891C>T	c.(889-891)cgC>cgT	p.R297R	SMARCE1_ENST00000431889.2_Silent_p.R279R|SMARCE1_ENST00000400122.3_Silent_p.R227R|SMARCE1_ENST00000377808.4_Silent_p.R262R|SMARCE1_ENST00000544009.1_Silent_p.R227R|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Silent_p.R262R|SMARCE1_ENST00000578044.1_Silent_p.R227R	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	297					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	p.R297R(1)		large_intestine(1)	1		Breast(137;0.000812)				CCTGCCTTTTGCGGGCCTGTT	0.512000													84	53					0	0	0.139131	0	0
STOX1	219736	broad.mit.edu	37	10	70645813	70645813	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr10:70645813G>A	ENST00000298596.6	+	3	2344	c.2261G>A	c.(2260-2262)gGc>gAc	p.G754D	STOX1_ENST00000421961.2_Missense_Mutation_p.G644D|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.G754D|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	754						cytoplasm|nucleolus	DNA binding	p.G754D(1)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						ATGCTGCCTGGCCACAGTCAG	0.428000													39	31					0	0	0.086207	0	0
MCOLN3	55283	broad.mit.edu	37	1	85487754	85487754	+	Splice_Site	SNP	T	T	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:85487754T>G	ENST00000370589.2	-	11	1371	c.1320_splice	c.e11+1	p.K440_splice	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Splice_Site_p.K384_splice|MCOLN3_ENST00000474447.1_5'UTR	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	440						integral to membrane	ion channel activity	p.K440T(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TATCAGTACCTTGTCATGGTA	0.423000													13	74					0	0	0.146539	0	0
ZP4	57829	broad.mit.edu	37	1	238053780	238053780	+	Silent	SNP	A	A	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:238053780A>T	ENST00000366570.4	-	1	314	c.156T>A	c.(154-156)ccT>ccA	p.P52P	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	52					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.P52P(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TTAGTACAGGAGGAGACGTTG	0.498000													8	25					0	0	0.047766	0	0
TCTE1	202500	broad.mit.edu	37	6	44250206	44250206	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr6:44250206C>G	ENST00000371505.4	-	4	1059	c.937G>C	c.(937-939)Gac>Cac	p.D313H	TCTE1_ENST00000371503.3_Intron|TCTE1_ENST00000371504.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	313								p.D313H(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGTGACAAGTCCAGCTCCTCG	0.567000													22	17					0	0	0.062417	0	0
FIBP	9158	broad.mit.edu	37	11	65652447	65652447	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr11:65652447C>A	ENST00000338369.2	-	7	911	c.799G>T	c.(799-801)Gga>Tga	p.G267*	FIBP_ENST00000533045.1_Nonsense_Mutation_p.G257*|FIBP_ENST00000357519.4_Nonsense_Mutation_p.G260*	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	267					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding	p.G267*(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		CCCAGCTTTCCCCGGAGAGCA	0.627000											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	35					0.0692343	0.0714677	0.069234	1	0
SYNE2	23224	broad.mit.edu	37	14	64449507	64449507	+	Nonsense_Mutation	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr14:64449507C>T	ENST00000358025.3	+	17	2226	c.1996C>T	c.(1996-1998)Caa>Taa	p.Q666*	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.Q666*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.Q666*	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	666					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.Q666*(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)		TTCAAAAACTCAACTTGTAAG	0.323000													21	22					0	0	0.069288	0	0
B3GNT1	11041	broad.mit.edu	37	11	66113531	66113531	+	Silent	SNP	G	G	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr11:66113531G>T	ENST00000311181.4	-	2	1383	c.1237C>A	c.(1237-1239)Cga>Aga	p.R413R		NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	413					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	p.R413R(1)		breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						CAGCAGCGTCGGGGAGAGTTG	0.522000													35	112					9.62906e-15	1.18511e-14	0.086207	1	0
ARHGEF11	9826	broad.mit.edu	37	1	156946817	156946817	+	Silent	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:156946817C>T	ENST00000368194.3	-	7	1579	c.540G>A	c.(538-540)caG>caA	p.Q180Q	ARHGEF11_ENST00000361409.2_Silent_p.Q180Q	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	180					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.Q180Q(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCTGAGGATCTGGGTGGCAT	0.428000													121	127					0	0	0.139131	0	0
SETD2	29072	broad.mit.edu	37	3	47158225	47158225	+	Nonsense_Mutation	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr3:47158225G>A	ENST00000409792.3	-	4	4516	c.4474C>T	c.(4474-4476)Cga>Tga	p.R1492*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.R989*(2)|p.R1492*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTAATATCTCGATGAGATTTA	0.313000			"""N, F, S, Mis"""		clear cell renal carcinoma								17	25					0	0	0.160694	0	0
RYR2	6262	broad.mit.edu	37	1	237791169	237791169	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:237791169G>A	ENST00000366574.2	+	41	6546	c.6229G>A	c.(6229-6231)Gac>Aac	p.D2077N	RYR2_ENST00000360064.6_Missense_Mutation_p.D2075N|RYR2_ENST00000542537.1_Missense_Mutation_p.D2061N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2077	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.D2075N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTCATTGAAGACCCCGAGCT	0.493000													10	8					0	0	0.069234	0	0
DENND5A	23258	broad.mit.edu	37	11	9215164	9215164	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr11:9215164C>G	ENST00000328194.3	-	5	1334	c.1014G>C	c.(1012-1014)caG>caC	p.Q338H	DENND5A_ENST00000530044.1_Missense_Mutation_p.Q338H	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	338	DENN.							p.Q338H(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATAGACATGCTGCCACTGGA	0.473000													21	26					0	0	0.083992	0	0
PTK2B	2185	broad.mit.edu	37	8	27255117	27255117	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr8:27255117G>A	ENST00000397501.1	+	7	824	c.16G>A	c.(16-18)Gag>Aag	p.E6K	PTK2B_ENST00000420218.2_Missense_Mutation_p.E6K|PTK2B_ENST00000346049.5_Missense_Mutation_p.E6K|PTK2B_ENST00000517339.1_Missense_Mutation_p.E6K|PTK2B_ENST00000338238.4_Missense_Mutation_p.E6K|PTK2B_ENST00000544172.1_Missense_Mutation_p.E6K	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	6					apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	p.E6K(2)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TGGGGTGTCCGAGCCCCTGAG	0.607000													10	42					0	0	0.076483	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986736	11986736	+	RNA	SNP	T	T	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr8:11986736T>C	ENST00000434078.2	+	0	608					NR_027425.1																						TGCATCTGGCTGAGAAGATGT	0.507000													3	96					0	0	0.115264	0	0
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr17:7578403C>A	ENST00000420246.2	-	5	659	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000269305.4_Missense_Mutation_p.C176F|TP53_ENST00000445888.2_Missense_Mutation_p.C176F|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.C176F|TP53_ENST00000413465.2_Missense_Mutation_p.C176F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGTGGGGGCAGCGCCTCAC	0.652000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	16					3.1745e-13	3.86986e-13	0.134883	1	0
SEPT6	23157	broad.mit.edu	37	X	118771105	118771105	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chrX:118771105C>A	ENST00000394610.1	-	7	1105	c.841G>T	c.(841-843)Gtc>Ttc	p.V281F	SEPT6_ENST00000360156.7_Missense_Mutation_p.V281F|SEPT6_ENST00000489216.1_Missense_Mutation_p.V281F|SEPT6_ENST00000394616.4_Missense_Mutation_p.V223F|SEPT6_ENST00000394617.2_Missense_Mutation_p.V311F|SEPT6_ENST00000354228.4_Missense_Mutation_p.V281F|SEPT6_ENST00000354416.3_Missense_Mutation_p.V281F|SEPT6_ENST00000343984.5_Missense_Mutation_p.V281F	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	281					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	p.V281F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						TCCATGTTGACCCGAATCAGC	0.547000			T	MLL	AML								11	19					6.31663e-08	7.28404e-08	0.132662	1	0
PURG	29942	broad.mit.edu	37	8	30890170	30890170	+	Silent	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr8:30890170C>T	ENST00000475541.1	-	1	1061	c.129G>A	c.(127-129)gcG>gcA	p.A43A	PURG_ENST00000339382.2_Silent_p.A43A	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	43						nucleus	DNA binding	p.A43A(2)		endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TGGCTGAGGCCGCGTAGTGGG	0.627000													6	16					0	0	0.021553	0	0
MXRA5	25878	broad.mit.edu	37	X	3239235	3239235	+	Silent	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chrX:3239235G>A	ENST00000217939.6	-	5	4645	c.4491C>T	c.(4489-4491)tcC>tcT	p.S1497S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1497						extracellular region		p.S1497S(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGAGAATTGTGGATGGGGACG	0.473000													49	32					0	0	0.139131	0	0
OR7G3	390883	broad.mit.edu	37	19	9237500	9237500	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr19:9237500G>C	ENST00000305444.2	-	1	126	c.127C>G	c.(127-129)Ctg>Gtg	p.L43V		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L43V(1)		NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						ATGATGAGCAGGTTCCCCAGC	0.547000													14	20					0	0	0.132662	0	0
SMC1A	8243	broad.mit.edu	37	X	53409548	53409548	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chrX:53409548G>T	ENST00000322213.4	-	21	3291	c.3164C>A	c.(3163-3165)gCc>gAc	p.A1055D		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	1055					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	p.A1055D(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TGCCTGCTTGGCCTTCTTTGC	0.498000													4	18					0.014758	0.0154838	0.014758	1	0
GRIN2C	2905	broad.mit.edu	37	17	72846773	72846773	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr17:72846773A>G	ENST00000293190.5	-	5	1393	c.1247T>C	c.(1246-1248)gTg>gCg	p.V416A	GRIN2C_ENST00000347612.4_Missense_Mutation_p.V416A	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	416					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	p.V416A(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	AGGGCTCTCCACGATGACAAA	0.657000													36	35					0	0	0.069456	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86491836	86491836	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr4:86491836C>T	ENST00000395184.1	+	2	608	c.142C>T	c.(142-144)Ctc>Ttc	p.L48F	ARHGAP24_ENST00000503995.1_Missense_Mutation_p.L48F|ARHGAP24_ENST00000506421.1_3'UTR	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	48	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	p.L48F(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GGGGGATCAGCTCTATTATTT	0.473000													20	23					0	0	0.076483	0	0
C1orf173	127254	broad.mit.edu	37	1	75037335	75037335	+	Silent	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:75037335G>A	ENST00000326665.5	-	14	4277	c.4059C>T	c.(4057-4059)gcC>gcT	p.A1353A	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1353	Glu-rich.							p.A1353A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTCCTCTGCGGCTGTTTCTG	0.512000													52	63					0	0	0.139131	0	0
IGKV2D-29	28882	broad.mit.edu	37	2	89987068	89987068	+	RNA	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr2:89987068A>G	ENST00000491977.1	+	0	379																											CATGCAAAGTATACAGCTTCC	0.537000													27	55					0	0	0.116897	0	0
FREM1	158326	broad.mit.edu	37	9	14848694	14848694	+	Silent	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr9:14848694A>G	ENST00000380881.4	-	8	2048	c.1233T>C	c.(1231-1233)gaT>gaC	p.D411D	FREM1_ENST00000380880.3_Silent_p.D410D|FREM1_ENST00000422223.2_Silent_p.D410D			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	410					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.D411D(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GGGCATTTGTATCTGCTGTTC	0.443000													32	31					0	0	0.173368	0	0
OR5B2	390190	broad.mit.edu	37	11	58190389	58190389	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr11:58190389T>A	ENST00000302581.2	-	1	397	c.346A>T	c.(346-348)Atg>Ttg	p.M116L		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M116L(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCATAGGCCATTGAGGCCAAC	0.512000													17	39					0	0	0.160694	0	0
OR6S1	341799	broad.mit.edu	37	14	21109020	21109020	+	Silent	SNP	C	C	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr14:21109020C>A	ENST00000320704.3	-	1	830	c.831G>T	c.(829-831)gtG>gtT	p.V277V		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V277V(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TTATTACTGTCACTGCCCAGT	0.458000													44	58					4.67007e-22	5.9185e-22	0.104719	1	0
HTR3B	9177	broad.mit.edu	37	11	113813798	113813798	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr11:113813798C>A	ENST00000260191.2	+	7	1048	c.791C>A	c.(790-792)cCa>cAa	p.P264Q	HTR3B_ENST00000537778.1_Missense_Mutation_p.P253Q	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	264					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	p.P264Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TTCTACCTGCCACCCAACTGC	0.587000													11	20					0.00136819	0.00144735	0.093190	1	0
UHRF1BP1	54887	broad.mit.edu	37	6	34802533	34802533	+	Silent	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr6:34802533C>T	ENST00000192788.5	+	6	735	c.564C>T	c.(562-564)ctC>ctT	p.L188L	UHRF1BP1_ENST00000452449.2_Silent_p.L188L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	188								p.L188L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GGCAAACACTCCGAATTGAGG	0.423000													49	60					0	0	0.139131	0	0
SYPL2	284612	broad.mit.edu	37	1	110019462	110019462	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:110019462C>A	ENST00000369872.3	+	4	535	c.319C>A	c.(319-321)Ctc>Atc	p.L107I	SYPL2_ENST00000475497.1_3'UTR|SYPL2_ENST00000401021.3_Missense_Mutation_p.L107I	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	107	MARVEL.					integral to membrane|synaptic vesicle	transporter activity	p.L107I(1)		breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		GACCATGCACCTCATGGGGGA	0.567000													6	33					0.00116845	0.00124634	0.021553	1	0
ITSN2	50618	broad.mit.edu	37	2	24432687	24432687	+	Splice_Site	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr2:24432687C>T	ENST00000355123.4	-	35	4916	c.4473_splice	c.e35+1	p.T1491_splice	ITSN2_ENST00000361999.3_Splice_Site_p.T1464_splice	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1491	PH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.T1490T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATACTCACCGTTTTATACA	0.502000													23	63					0	0	0.069288	0	0
PRKCE	5581	broad.mit.edu	37	2	46411986	46411986	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr2:46411986G>T	ENST00000306156.3	+	15	2507	c.2180G>T	c.(2179-2181)gGt>gTt	p.G727V		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	727	AGC-kinase C-terminal.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	p.G727V(1)	MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			GAATTCAAAGGTTTCTCCTAC	0.498000													25	40					4.26978e-12	5.06048e-12	0.083992	1	0
ZRSR1	7310	broad.mit.edu	37	5	112228539	112228539	+	Silent	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr5:112228539G>A	ENST00000391338.1	+	1	1227	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	REEP5_ENST00000379638.4_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000513339.1_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000545426.1_Intron	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1											breast(1)|skin(1)|stomach(2)	4						GGGAATCCGAGAGAAAAAAGA	0.512000													6	11					0	0	0.021553	0	0
SMARCA2	6595	broad.mit.edu	37	9	2056747	2056747	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr9:2056747C>T	ENST00000382203.1	+	7	1458	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	SMARCA2_ENST00000357248.2_Missense_Mutation_p.R417W|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R417W|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R417W			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	417					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	p.R417W(1)|p.R413W(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AGCATACAAACGGAGCAAGCG	0.557000													11	12					0	0	0.069234	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947393	57947393	+	Silent	SNP	G	G	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr11:57947393G>T	ENST00000335397.3	+	3	793	c.477G>T	c.(475-477)cgG>cgT	p.R159R		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	159			R -> L (in dbSNP:rs12420738).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R159R(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				CCTTGGTGCGGACAGTCTCAG	0.537000													16	37					3.45872e-05	3.81652e-05	0.146539	1	0
FEZF1	389549	broad.mit.edu	37	7	121942893	121942893	+	Silent	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr7:121942893C>T	ENST00000442488.2	-	3	1096	c.1029G>A	c.(1027-1029)ccG>ccA	p.P343P	FEZF1_ENST00000427185.2_Silent_p.P293P|FEZF1_ENST00000331178.4_Silent_p.P339P	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	343					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P339P(1)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CACACACAAACGGTTTGTAGC	0.393000													51	129					0	0	0.139131	0	0
GPR112	139378	broad.mit.edu	37	X	135430519	135430519	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chrX:135430519T>A	ENST00000394143.1	+	6	4945	c.4654T>A	c.(4654-4656)Tgt>Agt	p.C1552S	GPR112_ENST00000287534.4_Missense_Mutation_p.C1489S|GPR112_ENST00000370652.1_Missense_Mutation_p.C1552S|GPR112_ENST00000394141.1_Missense_Mutation_p.C1347S|GPR112_ENST00000412101.1_Missense_Mutation_p.C1347S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1552					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.C1552S(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GAAAAGTCCCTGTACAGCCAC	0.418000													67	44					0	0	0.139131	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738760	176738760	+	Silent	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:176738760A>G	ENST00000367662.3	+	16	5505	c.4341A>G	c.(4339-4341)acA>acG	p.T1447T		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1447	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.T1447T(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTCTGCTCACATGTTCTTCTG	0.478000													31	48					0	0	0.183431	0	0
CSMD3	114788	broad.mit.edu	37	8	113347699	113347699	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr8:113347699C>T	ENST00000297405.5	-	45	7268	c.7024G>A	c.(7024-7026)Gga>Aga	p.G2342R	CSMD3_ENST00000455883.2_Missense_Mutation_p.G2238R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2302R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2272R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2342	CUB 13.					integral to membrane|plasma membrane		p.G2302I(1)|p.G2342I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGTCTGGTCCATCCCTATGA	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	21					0	0	0.132662	0	0
CHD9	80205	broad.mit.edu	37	16	53358590	53358590	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr16:53358590A>T	ENST00000566029.1	+	39	8638	c.8429A>T	c.(8428-8430)gAt>gTt	p.D2810V	CHD9_ENST00000564845.1_Missense_Mutation_p.D2810V|CHD9_ENST00000447540.1_Missense_Mutation_p.D2811V|CHD9_ENST00000398510.3_Missense_Mutation_p.D2826V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2826					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.D2827V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AATACTTTTGATGTACAAAAC	0.368000													10	12					0	0	0.069234	0	0
POTEG	404785	broad.mit.edu	37	14	19553772	19553772	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr14:19553772C>T	ENST00000409832.3	+	1	408	c.356C>T	c.(355-357)cCt>cTt	p.P119L		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	119								p.P119L(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AAAGTGGGCCCTTGGGGAGAC	0.597000													19	244					0	0	0.049695	0	0
GSDMC	56169	broad.mit.edu	37	8	130764122	130764122	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr8:130764122T>C	ENST00000276708.4	-	9	1783	c.902A>G	c.(901-903)cAc>cGc	p.H301R		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	301						mitochondrion		p.H301R(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TGGGAGGATGTGAACTTGTTC	0.498000													90	221					0	0	0.139131	0	0
LAMA5	3911	broad.mit.edu	37	20	60907678	60907678	+	Silent	SNP	C	C	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr20:60907678C>A	ENST00000252999.3	-	27	3444	c.3378G>T	c.(3376-3378)gtG>gtT	p.V1126V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1126	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.V1126V(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTGCACGGCCACGCCCACCT	0.682000													6	4					0.0293803	0.0305747	0.029380	1	0
C1orf51	148523	broad.mit.edu	37	1	150259060	150259060	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:150259060A>T	ENST00000290363.5	+	5	1301	c.852A>T	c.(850-852)ttA>ttT	p.L284F	C1orf51_ENST00000369095.1_Missense_Mutation_p.L284F|C1orf51_ENST00000369094.1_Missense_Mutation_p.L196F	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	284								p.L284F(1)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGGTCCTTTAGGCACTGGAA	0.552000													83	112					0	0	0.139131	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128877985	128877985	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chrX:128877985C>T	ENST00000371106.3	+	3	364	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	XPNPEP2_ENST00000371105.3_Missense_Mutation_p.R58C	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	58					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	p.R58C(1)		endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CACAGCCCTCCGCCAGCAGAT	0.498000													9	86					0	0	0.058154	0	0
USP40	55230	broad.mit.edu	37	2	234394527	234394527	+	Silent	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr2:234394527C>T	ENST00000251722.6	-	29	3408	c.3291G>A	c.(3289-3291)ggG>ggA	p.G1097G	USP40_ENST00000427112.2_Silent_p.G1097G|USP40_ENST00000496298.1_5'UTR|USP40_ENST00000450966.1_Silent_p.G1109G			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1097					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.G1109G(2)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AGCCGGCAGTCCCACCCTGGG	0.592000													8	2					0	0	0.038147	0	0
BCAN	63827	broad.mit.edu	37	1	156628465	156628465	+	Silent	SNP	C	C	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:156628465C>A	ENST00000329117.4	+	13	2904	c.2568C>A	c.(2566-2568)atC>atA	p.I856I	BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	856	Sushi.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.(=)(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGCCGCTGATCCGATGCCAAG	0.632000													48	95					2.17126e-26	2.77921e-26	0.139131	1	0
C12orf61	283416	broad.mit.edu	37	12	62996808	62996808	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr12:62996808G>C	ENST00000408887.2	-	1	406	c.311C>G	c.(310-312)cCc>cGc	p.P104R	RP11-631N16.2_ENST00000550290.1_RNA	NM_175895.3	NP_787091.1	Q8N7H1	CL061_HUMAN	chromosome 12 open reading frame 61	104								p.P104R(1)		cervix(1)|lung(2)	3			BRCA - Breast invasive adenocarcinoma(9;0.0399)	GBM - Glioblastoma multiforme(28;0.134)		GGGTGGCCTGGGGACTTCCCG	0.662000													5	8					0	0	0.014758	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123687368	123687368	+	Silent	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr12:123687368G>A	ENST00000606320.1	-	10	1790	c.1584C>T	c.(1582-1584)aaC>aaT	p.N528N	MPHOSPH9_ENST00000302349.5_Silent_p.N376N|MPHOSPH9_ENST00000392425.3_Silent_p.N376N|MPHOSPH9_ENST00000541076.2_Silent_p.N498N			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	376					M phase of mitotic cell cycle	centriole|Golgi membrane		p.N376N(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TCCTACTTTCGTTTTGGAATG	0.403000													5	155					0	0	0.014758	0	0
CSMD3	114788	broad.mit.edu	37	8	113347698	113347698	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr8:113347698C>A	ENST00000297405.5	-	45	7269	c.7025G>T	c.(7024-7026)gGa>gTa	p.G2342V	CSMD3_ENST00000455883.2_Missense_Mutation_p.G2238V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2302V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2272V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2342	CUB 13.					integral to membrane|plasma membrane		p.G2302I(1)|p.G2342I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGGTCTGGTCCATCCCTATG	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	18					3.45872e-05	3.81652e-05	0.146539	1	0
TTBK2	146057	broad.mit.edu	37	15	43069415	43069415	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr15:43069415T>C	ENST00000267890.6	-	12	1331	c.1223A>G	c.(1222-1224)cAt>cGt	p.H408R	TTBK2_ENST00000567274.1_Missense_Mutation_p.H373R|TTBK2_ENST00000567840.1_Missense_Mutation_p.H408R	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	408					cell death		ATP binding|protein serine/threonine kinase activity	p.H408R(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TGCCTGGCCATGGCTGTTCTC	0.443000													19	13					0	0	0.055883	0	0
DMD	1756	broad.mit.edu	37	X	32613910	32613910	+	Silent	SNP	T	T	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chrX:32613910T>C	ENST00000357033.4	-	13	1772	c.1566A>G	c.(1564-1566)ggA>ggG	p.G522G	DMD_ENST00000378677.2_Silent_p.G518G|DMD_ENST00000288447.4_Silent_p.G514G	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	522			Missing (in BMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.G522G(1)|p.G517G(1)|p.G518G(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGCGTGATCTCCACTAGATT	0.353000													21	16					0	0	0.062417	0	0
ACAN	176	broad.mit.edu	37	15	89417108	89417108	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr15:89417108A>G	ENST00000439576.2	+	17	7743	c.7369A>G	c.(7369-7371)Agg>Ggg	p.R2457G	ACAN_ENST00000561243.1_Missense_Mutation_p.R2457G|ACAN_ENST00000559004.1_Missense_Mutation_p.R2419G|ACAN_ENST00000352105.7_Intron	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2457					cell adhesion		hyaluronic acid binding|sugar binding	p.R2343G(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGAGCATGCCAGGACCTTCGG	0.587000													11	15					0	0	0.093190	0	0
PAK4	10298	broad.mit.edu	37	19	39660357	39660357	+	Missense_Mutation	SNP	A	A	C	rs112229040		TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr19:39660357A>C	ENST00000599386.1	+	3	345	c.164A>C	c.(163-165)gAc>gCc	p.D55A	PAK4_ENST00000321944.4_Missense_Mutation_p.D55A|PAK4_ENST00000360442.3_Missense_Mutation_p.D55A|PAK4_ENST00000358301.3_Missense_Mutation_p.D55A|PAK4_ENST00000599470.1_Missense_Mutation_p.D55A|PAK4_ENST00000435673.2_Missense_Mutation_p.D55A|PAK4_ENST00000593690.1_Missense_Mutation_p.D55A	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	55	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	p.D55A(2)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CCCCTCGTCGACCCCGCCTGC	0.716000													6	11					0	0	0.105934	0	0
DICER1	23405	broad.mit.edu	37	14	95578531	95578531	+	Silent	SNP	G	G	A			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr14:95578531G>A	ENST00000526495.1	-	15	2385	c.2094C>T	c.(2092-2094)tgC>tgT	p.C698C	DICER1_ENST00000541352.1_Silent_p.C698C|DICER1_ENST00000527414.1_Silent_p.C698C|DICER1_ENST00000343455.3_Silent_p.C698C|DICER1_ENST00000393063.1_Silent_p.C698C			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	698	Dicer dsRNA-binding fold.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.C698C(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GTTTCTCACAGCAAATGAGAG	0.343000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				3	53					0	0	0.150653	0	0
SCG2	7857	broad.mit.edu	37	2	224462881	224462881	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr2:224462881T>G	ENST00000305409.2	-	2	1352	c.1120A>C	c.(1120-1122)Aag>Cag	p.K374Q		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	374					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	p.K374Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCATTCGGCTTCTCCCCAGTT	0.453000													42	39					0	0	0.092188	0	0
NCAPH2	29781	broad.mit.edu	37	22	50961504	50961504	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr22:50961504C>T	ENST00000395701.3	+	19	1680	c.1586C>T	c.(1585-1587)cCc>cTc	p.P529L	NCAPH2_ENST00000420993.2_Missense_Mutation_p.P529L|NCAPH2_ENST00000299821.11_Missense_Mutation_p.P530L			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	529					chromosome condensation	chromosome|nucleus		p.P529L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		TCACGGTTCCCCCAGCTCAAT	0.632000													8	6					0	0	0.038147	0	0
MSANTD3	91283	broad.mit.edu	37	9	103207491	103207491	+	Silent	SNP	C	C	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr9:103207491C>T	ENST00000374885.1	+	3	609	c.459C>T	c.(457-459)atC>atT	p.I153I	MSANTD3_ENST00000489377.1_3'UTR|MSANTD3-TMEFF1_ENST00000502978.1_Intron|MSANTD3_ENST00000395067.2_Intron|TMEFF1_ENST00000334943.6_Intron	NM_001198807.1	NP_001185736.1			Myb/SANT-like DNA-binding domain containing 3									p.I153I(1)		endometrium(2)|lung(2)	4						AATTGTCAATCATCCTTTCTG	0.358000													11	18					0	0	0.080935	0	0
PRND	23627	broad.mit.edu	37	20	4705263	4705263	+	Silent	SNP	T	T	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr20:4705263T>C	ENST00000305817.2	+	2	137	c.66T>C	c.(64-66)tcT>tcC	p.S22S		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	22			S -> P.		protein homooligomerization	anchored to membrane|plasma membrane		p.S22S(1)		breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GCCACCTCTCTGCGGTCCAGA	0.627000													22	21					0	0	0.055883	0	0
PGBD1	84547	broad.mit.edu	37	6	28253402	28253402	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr6:28253402G>T	ENST00000405948.2	+	3	891	c.471G>T	c.(469-471)caG>caT	p.Q157H	PGBD1_ENST00000259883.3_Missense_Mutation_p.Q157H	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	157					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	p.Q157H(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TGGAGTGTCAGAGCCTCCAGC	0.502000													18	24					2.4624e-09	2.86533e-09	0.049695	1	0
RIMS3	9783	broad.mit.edu	37	1	41101649	41101649	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:41101649T>C	ENST00000372684.3	-	4	767	c.298A>G	c.(298-300)Aca>Gca	p.T100A	RIMS3_ENST00000372683.1_Missense_Mutation_p.T100A	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	100					neurotransmitter transport	cell junction|synapse		p.T100A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CCCTGGCGTGTGACCCGGCTC	0.687000													6	46					0	0	0.029380	0	0
MVD	4597	broad.mit.edu	37	16	88721708	88721708	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr16:88721708T>G	ENST00000301012.3	-	7	825	c.796A>C	c.(796-798)Acc>Ccc	p.T266P		NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	266					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity	p.T266P(1)		endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TCGAGGCAGGTGGCGTGGAAC	0.647000													4	10					0	0	0.150653	0	0
ESRP1	54845	broad.mit.edu	37	8	95680478	95680478	+	Splice_Site	SNP	G	G	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr8:95680478G>C	ENST00000433389.2	+	10	1423	c.1233_splice	c.e10+1	p.Q411_splice	ESRP1_ENST00000454170.2_Splice_Site_p.Q411_splice|ESRP1_ENST00000423620.2_Splice_Site_p.Q411_splice|ESRP1_ENST00000358397.5_Splice_Site_p.Q411_splice	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	411					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	p.Q411H(2)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AAGTTCAGCAGGTTGGTTTTA	0.368000													16	28					0	0	0.132662	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													5	88					0	0	0.014758	0	0
OTOGL	283310	broad.mit.edu	37	12	80761504	80761504	+	Silent	SNP	A	A	C			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr12:80761504A>C	ENST00000458043.2	+	53	6474	c.6468A>C	c.(6466-6468)tcA>tcC	p.S2156S	OTOGL_ENST00000546620.1_Silent_p.S175S|OTOGL_ENST00000547103.1_Silent_p.S2144S	NM_173591.3	NP_775862.3			otogelin-like									p.S2156S(1)|p.S521S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGAATTGTTCAAAAAAATGTG	0.328000													2	0					0	0	0.115264	0	0
PADI6	353238	broad.mit.edu	37	1	17720687	17720687	+	RNA	DEL	G	G	-	rs67226027		TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr1:17720687delG	ENST00000434762.2	+	0	1233							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGCCTCTGAGGGGGGAGGGG	0.587													9	2	---	---	---	---					
TEX15	56154	broad.mit.edu	37	8	30701411	30701412	+	Frame_Shift_Ins	INS	-	-	T			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr8:30701411_30701412insT	ENST00000256246.2	-	1	5196_5197	c.5122_5123insA	c.(5122-5124)gcafs	p.A1708fs		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1708										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTCTAAGTGCCTTTTTTTGTTT	0.376													7	130	---	---	---	---					
RAD21	5885	broad.mit.edu	37	8	117869548	117869549	+	Frame_Shift_Del	DEL	TA	TA	-	rs143910582	by1000genomes	TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr8:117869548_117869549delTA	ENST00000297338.2	-	6	932_933	c.645_646delTA	c.(643-648)taagfs	p.YK215fs	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	215					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TTATCATCCTTATATTGATCTT	0.327													48	86	---	---	---	---					
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	GCT	-	rs34222232		TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr9:139277995_139277997delGCT	ENST00000298532.2	-	15	1992_1994	c.1624_1626delAGC	c.(1624-1626)del	p.S542del		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	542					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.S542delS(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.690													4	3	---	---	---	---					
FGFR2	2263	broad.mit.edu	37	10	123324018	123324020	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr10:123324018_123324020delTTG	ENST00000358487.5	-	4	722_724	c.450_452delCAA	c.(448-453)aag>aa	p.NK150del	FGFR2_ENST00000346997.2_In_Frame_Del_p.NK150del|FGFR2_ENST00000360144.3_In_Frame_Del_p.NK61del|FGFR2_ENST00000369061.4_In_Frame_Del_p.NK150del|FGFR2_ENST00000351936.6_In_Frame_Del_p.NK150del|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369060.4_In_Frame_Del_p.NK150del|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000357555.5_In_Frame_Del_p.NK61del|FGFR2_ENST00000369056.1_In_Frame_Del_p.NK150del|FGFR2_ENST00000457416.2_In_Frame_Del_p.NK150del|FGFR2_ENST00000359354.2_In_Frame_Del_p.NK150del	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	150					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TTACTTACTCTTGTTGTTACTGT	0.507		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				20	93	---	---	---	---					
BUD13	84811	broad.mit.edu	37	11	116633839	116633839	+	Frame_Shift_Del	DEL	G	G	-			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr11:116633839delG	ENST00000260210.4	-	4	489	c.466delC	c.(466-468)gtfs	p.R156fs	BUD13_ENST00000375445.3_Frame_Shift_Del_p.R156fs	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	156	Arg-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GTGTCATGACGGGCCCTCCTA	0.587													52	110	---	---	---	---					
DACT1	51339	broad.mit.edu	37	14	59113753	59113753	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr14:59113753delC	ENST00000395153.3	+	4	2448	c.2301delC	c.(2299-2301)cafs	p.H767fs	DACT1_ENST00000541264.2_Frame_Shift_Del_p.H523fs|DACT1_ENST00000335867.4_Frame_Shift_Del_p.H804fs|DACT1_ENST00000556859.1_Frame_Shift_Del_p.H523fs|DACT1_ENST00000395151.3_Frame_Shift_Del_p.H523fs	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	804					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TTCACAACCACCCCGCAAAAA	0.502													33	49	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29676209	29676209	+	Frame_Shift_Del	DEL	A	A	-			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr17:29676209delA	ENST00000358273.4	+	49	7644	c.7261delA	c.(7261-7263)acfs	p.N2421fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.N2400fs|NF1_ENST00000444181.2_Frame_Shift_Del_p.N214fs|NF1_ENST00000417592.2_Frame_Shift_Del_p.N134fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2421					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AACTCTGGTTAACAAACACAG	0.343			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			10	15	---	---	---	---					
IGLC3	3539	broad.mit.edu	37	22	23248852	23248852	+	RNA	DEL	A	A	-	rs71797740		TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr22:23248852delA	ENST00000390325.2	+	0	341																											CTCACCCCCCACCACGGGAGA	0.572													6	7	---	---	---	---					
PLXNB2	23654	broad.mit.edu	37	22	50718982	50718982	+	Frame_Shift_Del	DEL	T	T	-			TCGA-73-4676-01A-01D-1753-08	TCGA-73-4676-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff368c6d-fedb-49cc-b519-7726816aff8d	2660c208-3cf3-4408-9ed1-370cc3479648	g.chr22:50718982delT	ENST00000449103.1	-	25	4251	c.4111delA	c.(4111-4113)cgfs	p.T1371fs	PLXNB2_ENST00000359337.4_Frame_Shift_Del_p.T1371fs			O15031	PLXB2_HUMAN	plexin B2	1371					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGAAGAGCGTGTGCATGATG	0.657													22	30	---	---	---	---					
