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
TTN	7273	broad.mit.edu	37	2	179463526	179463526	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:179463526C>T	ENST00000589042.1	-	291	57135	c.56911G>A	c.(56911-56913)Gtg>Atg	p.V18971M	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V17330M|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10098M|TTN_ENST00000342992.6_Missense_Mutation_p.V16403M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V10031M|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9906M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17330	Fibronectin type-III 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGGACCCACGCCAGCAGCA	0.428000													18	235					0	0	0.000958276	0	0
MEP1A	4224	broad.mit.edu	37	6	46793078	46793078	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:46793078A>C	ENST00000230588.4	+	8	635	c.626A>C	c.(625-627)gAg>gCg	p.E209A		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	209	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TATGATTATGAGTCTTTGATG	0.443000													5	85					0	0	8.12818e-05	0	0
TRPM6	140803	broad.mit.edu	37	9	77377204	77377204	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr9:77377204A>C	ENST00000451710.3	-	26	4620	c.4383T>G	c.(4381-4383)gaT>gaG	p.D1461E	TRPM6_ENST00000376864.4_Missense_Mutation_p.D1461E|TRPM6_ENST00000360774.1_Missense_Mutation_p.D1461E|TRPM6_ENST00000449912.2_Missense_Mutation_p.D1456E|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.D1456E|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1461					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CACCAGTTTCATCACCTTCTG	0.493000													44	98					0	0	0.000437636	0	0
ST3GAL5	8869	broad.mit.edu	37	2	86067399	86067399	+	Silent	SNP	G	G	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:86067399G>A	ENST00000377332.3	-	7	1233	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	ST3GAL5_ENST00000393805.1_Silent_p.F347F|ST3GAL5_ENST00000393808.3_Silent_p.F352F	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	375					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						ATTGACTGTCGAAGTAGTGCA	0.463000													32	72					0	0	0.00058488	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4967494	4967494	+	Silent	SNP	T	T	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chrY:4967494T>A	ENST00000333703.4	+	5	2355	c.1842T>A	c.(1840-1842)acT>acA	p.T614T	PCDH11Y_ENST00000362095.5_Silent_p.T625T|PCDH11Y_ENST00000215473.6_Silent_p.T625T	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	625	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GACTAATCACTGTAACTGATC	0.393000													5	32					0	0	0.000602214	0	0
FETUB	26998	broad.mit.edu	37	3	186362642	186362642	+	Missense_Mutation	SNP	C	C	G	rs149523201		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:186362642C>G	ENST00000265029.3	+	4	628	c.527C>G	c.(526-528)gCg>gGg	p.A176G	FETUB_ENST00000539949.1_Missense_Mutation_p.A28G|FETUB_ENST00000488561.1_3'UTR|RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000450521.1_Missense_Mutation_p.A176G|FETUB_ENST00000382134.3_Missense_Mutation_p.A111G|FETUB_ENST00000382136.3_Missense_Mutation_p.A139G	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	176	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GAGTCTCTTGCGAAATACAAC	0.478000													6	112					0	0	3.59834e-05	0	0
ADCY8	114	broad.mit.edu	37	8	131848633	131848633	+	Silent	SNP	G	G	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:131848633G>A	ENST00000286355.5	-	12	4657	c.2565C>T	c.(2563-2565)tcC>tcT	p.S855S	ADCY8_ENST00000377928.3_Silent_p.S724S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	855					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTTCAGGACGGAGTTCAGCC	0.537000										HNSCC(32;0.087)			40	57					0	0	0.000270559	0	0
LUZP1	7798	broad.mit.edu	37	1	23418232	23418232	+	Silent	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:23418232A>G	ENST00000302291.4	-	4	3324	c.2523T>C	c.(2521-2523)ccT>ccC	p.P841P	LUZP1_ENST00000374623.3_Silent_p.P841P|LUZP1_ENST00000418342.1_Silent_p.P841P|LUZP1_ENST00000314174.5_Silent_p.P841P			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	841						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGAGCTCAAAAGGGGAGCTGA	0.562000													3	104					0	0	6.4e-05	0	0
PALMD	54873	broad.mit.edu	37	1	100154852	100154852	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:100154852A>T	ENST00000263174.4	+	7	1411	c.1036A>T	c.(1036-1038)Agg>Tgg	p.R346W	PALMD_ENST00000605497.1_Missense_Mutation_p.R346W	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	346					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CCCGCAAAAAAGGCTAATGAC	0.488000													15	27					0	0	0.000422831	0	0
SYNPO2	171024	broad.mit.edu	37	4	119978626	119978626	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:119978626A>G	ENST00000307142.4	+	5	3519	c.3323A>G	c.(3322-3324)tAc>tGc	p.Y1108C	SYNPO2_ENST00000448416.2_Missense_Mutation_p.T110A	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	765						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTTGGGTATACCAGCCTACT	0.448000													22	56					0	0	0.000295444	0	0
ITGA2	3673	broad.mit.edu	37	5	52362978	52362978	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr5:52362978A>C	ENST00000296585.5	+	16	2117	c.1974A>C	c.(1972-1974)gaA>gaC	p.E658D		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	658					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TAGCTATAGAAGCTTCATTCA	0.353000													3	38					0	0	6.4e-05	0	0
PRPF3	9129	broad.mit.edu	37	1	150297416	150297416	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:150297416A>G	ENST00000324862.6	+	2	181	c.16A>G	c.(16-18)Agg>Ggg	p.R6G	PRPF3_ENST00000543398.1_5'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.R6G	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	6	PWI.				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		ACTGTCAAAGAGGGAGCTGGA	0.423000													7	128					0	0	0.000157383	0	0
GABRB1	2560	broad.mit.edu	37	4	47427856	47427856	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:47427856C>T	ENST00000295454.3	+	9	1538	c.1246C>T	c.(1246-1248)Cgc>Tgc	p.R416C	GABRB1_ENST00000538619.1_Missense_Mutation_p.R346C	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	416					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGCCTACGGGCGCGCCCTGGA	0.642000													6	51					0	0	3.59834e-05	0	0
TG	7038	broad.mit.edu	37	8	133935616	133935616	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:133935616T>A	ENST00000220616.4	+	22	4602	c.4562T>A	c.(4561-4563)cTg>cAg	p.L1521Q	TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1521	Thyroglobulin type-1 11.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAAGCAGGCCTGCAATGTGAC	0.577000													7	94					0	0	0.000157383	0	0
ESPL1	9700	broad.mit.edu	37	12	53666575	53666575	+	Silent	SNP	T	T	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:53666575T>G	ENST00000257934.4	+	6	1531	c.1440T>G	c.(1438-1440)tcT>tcG	p.S480S	ESPL1_ENST00000552462.1_Silent_p.S480S	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	480					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GTGCCATCTCTGAGCCGCTCT	0.522000													22	223					0	0	0.000295444	0	0
DNAJC13	23317	broad.mit.edu	37	3	132165395	132165395	+	Splice_Site	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:132165395G>T	ENST00000260818.6	+	3	392		c.e3+1		DNAJC13_ENST00000486798.1_Splice_Site	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13								heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AACAAATCAGGTAATCCTGTT	0.368000													17	28					4.96729e-08	6.6192e-07	0.000132079	1	0
SLIT2	9353	broad.mit.edu	37	4	20255579	20255579	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:20255579C>A	ENST00000504154.1	+	1	393	c.141C>A	c.(139-141)cgC>cgA	p.R47R	SLIT2_ENST00000273739.5_Silent_p.R47R|SLIT2_ENST00000503823.1_Silent_p.R47R|SLIT2_ENST00000503837.1_Silent_p.R47R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	47	LRRNT.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGGCGCTGCGCAGCGTGCCCA	0.667000													8	129					1.06961e-07	1.39293e-06	0.000157383	1	0
GRIK5	2901	broad.mit.edu	37	19	42566936	42566936	+	Missense_Mutation	SNP	C	C	T	rs145589136		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:42566936C>T	ENST00000262895.3	-	3	315	c.316G>A	c.(316-318)Gtg>Atg	p.V106M	GRIK5_ENST00000301218.4_Missense_Mutation_p.V106M|GRIK5_ENST00000593562.1_Missense_Mutation_p.V106M	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	106						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	ATATGGCTCACGGTGGAGGCA	0.632000													28	53					0	0	0.000184323	0	0
NOD2	64127	broad.mit.edu	37	16	50745558	50745558	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:50745558A>G	ENST00000300589.2	+	4	1841	c.1736A>G	c.(1735-1737)gAc>gGc	p.D579G		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	579	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGCCCTGATGACATTTCTCTT	0.607000													6	35					0	0	3.59834e-05	0	0
LRP1	4035	broad.mit.edu	37	12	57574174	57574174	+	Silent	SNP	C	C	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:57574174C>T	ENST00000243077.3	+	32	5764	c.5298C>T	c.(5296-5298)atC>atT	p.I1766I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1766					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCATACCATCAACCGCTGCA	0.617000													25	224					0	0	0.00106085	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	44					0	0	0.000602214	0	0
C1orf173	127254	broad.mit.edu	37	1	75038906	75038906	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:75038906C>A	ENST00000326665.5	-	14	2706	c.2488G>T	c.(2488-2490)Gag>Tag	p.E830*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	830	Glu-rich.									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						GGAGGGATCTCCCTTTTTTCT	0.572000													13	130					5.50884e-06	6.86209e-05	0.00010058	1	0
SEMA6D	80031	broad.mit.edu	37	15	48054506	48054506	+	Silent	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:48054506A>G	ENST00000316364.5	+	8	1087	c.648A>G	c.(646-648)aaA>aaG	p.K216K	SEMA6D_ENST00000558014.1_Silent_p.K216K|SEMA6D_ENST00000558816.1_Silent_p.K216K|SEMA6D_ENST00000389425.3_Silent_p.K216K|SEMA6D_ENST00000354744.4_Silent_p.K216K|SEMA6D_ENST00000355997.3_Silent_p.K216K|SEMA6D_ENST00000358066.4_Silent_p.K216K|SEMA6D_ENST00000389433.2_Silent_p.K216K|SEMA6D_ENST00000389428.3_Silent_p.K216K|SEMA6D_ENST00000537942.1_Silent_p.K216K|SEMA6D_ENST00000389432.2_Silent_p.K216K|SEMA6D_ENST00000536845.2_Silent_p.K216K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	216	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ATGATTCCAAATGGATAAAAG	0.507000													3	79					0	0	6.4e-05	0	0
DLEC1	9940	broad.mit.edu	37	3	38129853	38129853	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:38129853G>A	ENST00000308059.6	+	10	1660	c.1639G>A	c.(1639-1641)Gcc>Acc	p.A547T	DLEC1_ENST00000452631.2_Missense_Mutation_p.A547T|DLEC1_ENST00000346219.3_Missense_Mutation_p.A547T			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	547					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTTTGAGCTGGCCCCGGGACA	0.458000													5	138					0	0	8.12818e-05	0	0
ARHGEF1	0	broad.mit.edu	37	19	42410938	42410938	+	Nonstop_Mutation	SNP	A	A	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:42410938A>T	ENST00000599846.1	+	29	3032	c.2907A>T	c.(2905-2907)tgA>tgT	p.*969C	ARHGEF1_ENST00000347545.4_Nonstop_Mutation_p.*880C|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R841W|ARHGEF1_ENST00000354532.3_Nonstop_Mutation_p.*913C|ARHGEF1_ENST00000337665.4_Nonstop_Mutation_p.*928C			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	0					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCTGCACTTGAGGTTCCCGCC	0.657000													9	21					0	0	0.000978159	0	0
SIRPA	140885	broad.mit.edu	37	20	1902248	1902248	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr20:1902248T>G	ENST00000358771.4	+	3	796	c.644T>G	c.(643-645)gTg>gGg	p.V215G	SIRPA_ENST00000400068.3_Missense_Mutation_p.V215G|SIRPA_ENST00000356025.3_Missense_Mutation_p.V215G	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	215	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ACAGCCAAGGTGGTGCTGACC	0.572000													7	103					0	0	0.000157383	0	0
PHF10	55274	broad.mit.edu	37	6	170114863	170114863	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:170114863G>C	ENST00000339209.4	-	7	892	c.769C>G	c.(769-771)Ctc>Gtc	p.L257V	PHF10_ENST00000366780.4_Missense_Mutation_p.L255V	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	257	SAY.				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		CCGGGGATGAGAGCCACTGGG	0.418000													14	169					0	0	0.000308642	0	0
CCR9	10803	broad.mit.edu	37	3	45942472	45942472	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:45942472G>T	ENST00000357632.2	+	3	372	c.192G>T	c.(190-192)ttG>ttT	p.L64F	LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.L52F|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000422395.1_Missense_Mutation_p.W93L|CCR9_ENST00000395963.2_Missense_Mutation_p.L52F	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	64					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TGGGTGCCTTGGGCAACAGTC	0.473000													9	175					0.000673444	0.00821029	0.000673444	1	0
ZNF28	7576	broad.mit.edu	37	19	53304661	53304661	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:53304661G>A	ENST00000438150.2	-	2	1171	c.278C>T	c.(277-279)tCg>tTg	p.S93L	ZNF28_ENST00000457749.2_Missense_Mutation_p.S146L|ZNF28_ENST00000414252.2_Missense_Mutation_p.S93L|ZNF28_ENST00000594602.1_3'UTR|ZNF28_ENST00000360272.4_Missense_Mutation_p.S93L			P17035	ZNF28_HUMAN	zinc finger protein 28	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AGGCAGATGCGAATGAAAGCT	0.398000													17	319					0	0	0.00074312	0	0
DST	667	broad.mit.edu	37	6	56468037	56468037	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:56468037G>A	ENST00000370754.5	-	41	11023	c.11024C>T	c.(11023-11025)aCg>aTg	p.T3675M	DST_ENST00000370769.4_Missense_Mutation_p.T3497M|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.T3497M|DST_ENST00000446842.2_Missense_Mutation_p.T3171M|DST_ENST00000312431.6_Missense_Mutation_p.T3497M			Q03001	DYST_HUMAN	dystonin	3497					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GATCTGTTTCGTTCTTTCTGA	0.388000													14	13					0	0	0.000219431	0	0
OR5H14	403273	broad.mit.edu	37	3	97868263	97868263	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:97868263T>C	ENST00000437310.1	+	1	94	c.34T>C	c.(34-36)Ttt>Ctt	p.F12L		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCTGACAGAGTTTGTTCTCAC	0.393000													9	126					0	0	0.000442599	0	0
CDH4	1002	broad.mit.edu	37	20	60448792	60448792	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr20:60448792G>A	ENST00000360469.5	+	7	974	c.886G>A	c.(886-888)Gtg>Atg	p.V296M	CDH4_ENST00000543233.1_Missense_Mutation_p.V222M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	296	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGGCACCTACGTGATGACCGT	0.662000													33	66					0	0	0.000692331	0	0
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs35873108	byFrequency	TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602000													3	53					0	0	0.00024832	0	0
TCERG1L	256536	broad.mit.edu	37	10	132915191	132915191	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:132915191T>A	ENST00000368642.4	-	9	1351	c.1266A>T	c.(1264-1266)gaA>gaT	p.E422D		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	422										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TCCCGCAGCCTTCGGTCCTTC	0.567000													6	18					0	0	3.59834e-05	0	0
MYOM1	8736	broad.mit.edu	37	18	3135567	3135567	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr18:3135567C>A	ENST00000356443.4	-	15	2520	c.2187G>T	c.(2185-2187)gtG>gtT	p.V729V	MYOM1_ENST00000261606.7_Silent_p.V729V|MYOM1_ENST00000400569.3_Silent_p.V729V	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	729	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTACCACAGTCACCTCCGTTG	0.458000													14	15					1.15088e-07	1.46545e-06	0.000422831	1	0
AMBRA1	55626	broad.mit.edu	37	11	46569829	46569829	+	Missense_Mutation	SNP	T	T	A	rs17854361		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:46569829T>A	ENST00000458649.2	-	2	520	c.102A>T	c.(100-102)gaA>gaT	p.E34D	AMBRA1_ENST00000426438.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E34D|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E34D			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	34					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GGGTTTTATCTTCTACCAGCT	0.512000													15	427					0	0	0.000308642	0	0
TLL2	7093	broad.mit.edu	37	10	98138802	98138802	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:98138802C>T	ENST00000357947.3	-	17	2467	c.2242G>A	c.(2242-2244)Gtc>Atc	p.V748I		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	748	EGF-like 2; calcium-binding (Potential).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AAGGTGTTGACGCACTCATGC	0.552000													15	134					0	0	0.000308642	0	0
S100A10	6281	broad.mit.edu	37	1	151958729	151958729	+	Splice_Site	SNP	T	T	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:151958729T>C	ENST00000368811.3	-	2	639		c.e2-2		S100A10_ENST00000478574.1_Splice_Site|S100A10_ENST00000368809.1_Splice_Site	NM_002966.2	NP_002957.1	P60903	S10AA_HUMAN	S100 calcium binding protein A10						signal transduction		calcium ion binding|receptor binding			breast(1)|kidney(1)|lung(2)|ovary(2)	6	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CGTTGAAGCCTATTAAAGGAT	0.333000													3	148					0	0	0.000602214	0	0
DGKB	1607	broad.mit.edu	37	7	14378185	14378185	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:14378185T>C	ENST00000403951.2	-	23	2499	c.2080A>G	c.(2080-2082)Agg>Ggg	p.R694G	DGKB_ENST00000258767.5_Missense_Mutation_p.R694G|DGKB_ENST00000444700.2_Missense_Mutation_p.R675G|DGKB_ENST00000402815.1_Missense_Mutation_p.R693G|DGKB_ENST00000407950.1_Missense_Mutation_p.R686G|DGKB_ENST00000399322.3_Missense_Mutation_p.R694G|DGKB_ENST00000406247.3_Missense_Mutation_p.R694G|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	694					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	ACGGTGGTCCTTTTGTCAGAC	0.393000													4	178					0	0	0.00024832	0	0
OR5R1	219479	broad.mit.edu	37	11	56185184	56185184	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:56185184G>C	ENST00000312253.1	-	1	524	c.525C>G	c.(523-525)aaC>aaG	p.N175K		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AATAGAAATGGTTAATTAAGT	0.433000													20	98					0	0	0.000295444	0	0
ASH1L	55870	broad.mit.edu	37	1	155307999	155308000	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:155307999_155308000insT	ENST00000368346.3	-	27	9337_9338	c.8698_8699insA	c.(8698-8700)agafs	p.R2900fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.R2895fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2900					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.T2895fs*44(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACTTTCCTCTGTTTTTTTTTCA	0.520													7	155	---	---	---	---					
POM121C	100101267	broad.mit.edu	37	7	75053866	75053867	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:75053866_75053867insT	ENST00000453279.2	-	11	1677_1678	c.813_814insA	c.(811-816)ctacttfs	p.L272fs	POM121C_ENST00000257665.5_Frame_Shift_Ins_p.L514fs|POM121C_ENST00000473168.1_5'UTR	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	514	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TTCTCTAAGTCTAGGTCCTCGG	0.510													102	194	---	---	---	---