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
LAMA1	284217	broad.mit.edu	37	18	7040152	7040152	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr18:7040152G>A	ENST00000389658.3	-	10	1438	c.1345C>T	c.(1345-1347)Ccg>Tcg	p.P449S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	449	Laminin EGF-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.P449S(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACAGGTCGGGTAATCCTTA	0.527000													33	23					0	0	0.012213	0	0
MYRF	745	broad.mit.edu	37	11	61547315	61547315	+	Splice_Site	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:61547315C>T	ENST00000278836.5	+	17	2345	c.2247_splice	c.e17-1	p.S750_splice	MYRF_ENST00000389602.4_Splice_Site_p.S141_splice|MYRF_ENST00000327797.1_Splice_Site_p.S396_splice|MYRF_ENST00000265460.5_Splice_Site_p.S741_splice|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		GGTCCTCAGTCATCGTCCGTG	0.617000													4	34					0	0	0.009096	0	0
SEC14L1	6397	broad.mit.edu	37	17	75208083	75208083	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr17:75208083G>T	ENST00000413679.2	+	15	1966	c.1663G>T	c.(1663-1665)Gtg>Ttg	p.V555L	SEC14L1_ENST00000430767.4_Missense_Mutation_p.V555L|SEC14L1_ENST00000591437.1_Missense_Mutation_p.V521L|SEC14L1_ENST00000392476.2_Missense_Mutation_p.V555L|SEC14L1_ENST00000443798.4_Missense_Mutation_p.V555L|SEC14L1_ENST00000585618.1_Missense_Mutation_p.V555L|SEC14L1_ENST00000431431.2_Missense_Mutation_p.V521L|SEC14L1_ENST00000436233.4_Missense_Mutation_p.V555L	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	555	GOLD.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GGATTTCGACGTGTGCAAAGG	0.537000													79	282					1.07363e-35	1.55022e-35	0.014410	1	0
PCDH20	64881	broad.mit.edu	37	13	61986212	61986212	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr13:61986212C>G	ENST00000409186.1	-	5	4125	c.2020G>C	c.(2020-2022)Gtc>Ctc	p.V674L	PCDH20_ENST00000409204.4_Missense_Mutation_p.V674L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	647	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GAGAGGGCGACCCATCCATTT	0.458000													25	45					0	0	0.016522	0	0
CARD6	84674	broad.mit.edu	37	5	40852497	40852497	+	Nonsense_Mutation	SNP	A	A	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:40852497A>T	ENST00000254691.5	+	3	1262	c.1063A>T	c.(1063-1065)Aag>Tag	p.K355*	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	355					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGAAGATAGCAAGGAGGATTT	0.463000													10	56					0	0	0.006214	0	0
PLCD1	5333	broad.mit.edu	37	3	38065883	38065883	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:38065883C>A	ENST00000463876.1	-	1	395	c.42G>T	c.(40-42)gaG>gaT	p.E14D	PLCD1_ENST00000334661.4_Intron	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	0					intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GCAGGTAGAGCTCCCTGGAGC	0.701000													9	22					9.31168e-06	1.04801e-05	0.016723	1	0
EEPD1	80820	broad.mit.edu	37	7	36338768	36338768	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:36338768G>A	ENST00000242108.4	+	8	2381	c.1663G>A	c.(1663-1665)Ggg>Agg	p.G555R	EEPD1_ENST00000534978.1_Missense_Mutation_p.G555R	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	555					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GAACGGCAGCGGGGTGGCCTT	0.592000													18	29					0	0	0.007413	0	0
HTR2C	3358	broad.mit.edu	37	X	113965991	113965991	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:113965991C>T	ENST00000276198.1	+	4	1052	c.324C>T	c.(322-324)ccC>ccT	p.P108P	HTR2C_ENST00000371950.3_Silent_p.P108P|HTR2C_ENST00000371951.1_Silent_p.P108P	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	108					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TTGTCATGCCCCTGTCTCTCC	0.378000													47	79					0	0	0.014410	0	0
RBM46	166863	broad.mit.edu	37	4	155719995	155719995	+	Silent	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:155719995G>T	ENST00000510397.1	+	4	860	c.681G>T	c.(679-681)gtG>gtT	p.V227V	RBM46_ENST00000514866.1_Silent_p.V227V|RBM46_ENST00000281722.3_Silent_p.V227V	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	227							nucleotide binding|RNA binding	p.V227V(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AGAAAGAGGTGGATGAGGAAA	0.333000													4	7					0.014758	0.0153816	0.014758	1	0
ACSM5	54988	broad.mit.edu	37	16	20422953	20422953	+	Silent	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:20422953G>T	ENST00000331849.4	+	2	294	c.147G>T	c.(145-147)gtG>gtT	p.V49V	ACSM5_ENST00000575584.1_Silent_p.V49V	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	49					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GGCAGCTGGTGCCTGAGTACT	0.577000													15	30					4.93089e-13	6.29114e-13	0.020292	1	0
FTMT	94033	broad.mit.edu	37	5	121188315	121188315	+	Silent	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:121188315G>T	ENST00000321339.1	+	1	666	c.657G>T	c.(655-657)ggG>ggT	p.G219G		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	219	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGAAGATGGGGGCCCCGGATG	0.512000													39	101					8.16277e-20	1.11345e-19	0.027894	1	0
XIRP2	129446	broad.mit.edu	37	2	168104328	168104328	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:168104328G>A	ENST00000409195.1	+	9	6515	c.6426G>A	c.(6424-6426)aaG>aaA	p.K2142K	XIRP2_ENST00000295237.9_Silent_p.K2142K|XIRP2_ENST00000409273.1_Silent_p.K1920K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1967	Pro-rich.				actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTCATATAAAGAGTCCTAAAA	0.398000													6	101					0	0	0.021553	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064472	78064472	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:78064472G>T	ENST00000299642.4	+	3	440	c.355G>T	c.(355-357)Gaa>Taa	p.E119*	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000565808.1_3'UTR|CLEC3A_ENST00000575655.1_Nonsense_Mutation_p.E110*	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	110	C-type lectin.				skeletal system development	extracellular region	sugar binding	p.E110*(1)|p.E110Q(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GAACTCCGACGAAATCAACGC	0.478000													15	58					2.32078e-09	2.76997e-09	0.024245	1	0
MANEAL	149175	broad.mit.edu	37	1	38265344	38265344	+	Silent	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:38265344C>G	ENST00000373045.6	+	4	1224	c.843C>G	c.(841-843)gcC>gcG	p.A281A	MANEAL_ENST00000397631.3_Intron|MANEAL_ENST00000329006.5_Silent_p.A59A|MANEAL_ENST00000525897.1_Silent_p.A87A	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	281						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGGCCTGGGCCCACCTCCTGA	0.577000													22	83					0	0	0.010504	0	0
KMT2C	58508	broad.mit.edu	37	7	151851382	151851382	+	Missense_Mutation	SNP	T	T	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:151851382T>G	ENST00000355193.2	-	48	12498	c.12280A>C	c.(12280-12282)Att>Ctt	p.I4094L	KMT2C_ENST00000485241.1_5'UTR|KMT2C_ENST00000262189.6_Missense_Mutation_p.I4037L					lysine (K)-specific methyltransferase 2C																		AGAATTGGAATGATGGGGGAC	0.443000													23	55					0	0	0.014323	0	0
DEPDC1	55635	broad.mit.edu	37	1	68944887	68944887	+	Silent	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:68944887T>C	ENST00000456315.2	-	10	2166	c.2052A>G	c.(2050-2052)caA>caG	p.Q684Q	DEPDC1_ENST00000370966.5_Silent_p.Q400Q|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	684					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AAGAGGGTACTTGAAGAATTT	0.373000													11	33					0	0	0.008291	0	0
CIDEA	1149	broad.mit.edu	37	18	12262951	12262951	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr18:12262951C>A	ENST00000320477.9	+	2	231	c.166C>A	c.(166-168)Cag>Aag	p.Q56K	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	56	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						AAGCAGCCTGCAGGAGCTCAT	0.637000													8	37					1.06961e-07	1.24648e-07	0.003080	1	0
PSIP1	11168	broad.mit.edu	37	9	15468839	15468839	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr9:15468839T>C	ENST00000380733.4	-	14	1552	c.1209A>G	c.(1207-1209)atA>atG	p.I403M	PSIP1_ENST00000380738.4_Missense_Mutation_p.I403M			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	403					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TGAATCGCCGTATCTGAGAAA	0.299000													18	19					0	0	0.008871	0	0
GNAO1	2775	broad.mit.edu	37	16	56377861	56377861	+	Nonstop_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:56377861G>T	ENST00000262494.7	+	8	1324	c.1064G>T	c.(1063-1065)tGa>tTa	p.*355L	GNAO1_ENST00000262493.6_Intron	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	0					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				GGACTCTACTGAGCCCAGCCG	0.627000													15	50					0.000422831	0.00045512	0.028581	1	0
SEC22B	9554	broad.mit.edu	37	1	145112502	145112502	+	RNA	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:145112502G>T	ENST00000453618.1	+	0	803							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										GTGTTACAACGAGGAGAAGCA	0.413000													8	105					1.58986e-06	1.80306e-06	0.008291	1	0
ORC2	4999	broad.mit.edu	37	2	201785816	201785816	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:201785816C>G	ENST00000234296.2	-	14	1443	c.1194G>C	c.(1192-1194)caG>caC	p.Q398H		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	398					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						CTCTCAACATCTGGCTATCCA	0.358000													7	44					0	0	0.006214	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28212871	28212871	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr21:28212871C>G	ENST00000284984.2	-	5	1843	c.1389G>C	c.(1387-1389)ttG>ttC	p.L463F		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	463	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GCTTGTCCATCAAACATTCCC	0.478000													11	40					0	0	0.010729	0	0
MT1JP	4498	broad.mit.edu	37	16	56670900	56670900	+	RNA	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:56670900C>T	ENST00000564564.1	+	0	879																											ACAACCTGCACAACCTGGATT	0.408000													5	67					0	0	0.014758	0	0
SYT7	9066	broad.mit.edu	37	11	61291970	61291970	+	Silent	SNP	G	G	C	rs146401168		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:61291970G>C	ENST00000263846.4	-	6	984	c.657C>G	c.(655-657)ctC>ctG	p.L219L	SYT7_ENST00000542836.1_Silent_p.L263L|SYT7_ENST00000542670.1_Silent_p.L427L|SYT7_ENST00000540677.1_Silent_p.L294L|SYT7_ENST00000539008.1_Silent_p.L502L|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000535826.1_Silent_p.L338L	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	219	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTTGGAGGTAGAGGATCCTCT	0.592000													10	54					0	0	0.008291	0	0
IQCH	64799	broad.mit.edu	37	15	67709303	67709303	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:67709303C>G	ENST00000335894.4	+	15	2198	c.2132C>G	c.(2131-2133)gCg>gGg	p.A711G	IQCH_ENST00000358767.3_Missense_Mutation_p.A447G|IQCH_ENST00000546225.1_Missense_Mutation_p.A368G|IQCH_ENST00000360277.4_Missense_Mutation_p.A372G|IQCH-AS1_ENST00000559298.1_lincRNA	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	711										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GAGGAGCTGGCGGGCATTTTA	0.443000													3	23					0	0	0.004672	0	0
AHNAK	79026	broad.mit.edu	37	11	62301375	62301375	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:62301375C>T	ENST00000378024.4	-	5	788	c.514G>A	c.(514-516)Gac>Aac	p.D172N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	172					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGTCTATGTCCTTGGCTCCT	0.532000													22	63					0	0	0.021523	0	0
MYO9A	4649	broad.mit.edu	37	15	72144597	72144597	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:72144597A>G	ENST00000356056.5	-	36	6823	c.6351T>C	c.(6349-6351)gcT>gcC	p.A2117A	MYO9A_ENST00000444904.1_Silent_p.A2098A|MYO9A_ENST00000424560.1_Silent_p.A2188A|MYO9A_ENST00000564571.1_Silent_p.A2117A	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2117	Rho-GAP.|Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTACACTCTCAGCATCTATTT	0.353000													4	29					0	0	0.009096	0	0
LRRCC1	85444	broad.mit.edu	37	8	86048051	86048051	+	Missense_Mutation	SNP	A	A	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:86048051A>C	ENST00000414626.2	+	13	3011	c.2122A>C	c.(2122-2124)Att>Ctt	p.I708L	LRRCC1_ENST00000360375.3_Missense_Mutation_p.I728L			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	728					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TGAAATTTTAATTGAAGATGA	0.289000													7	108					0	0	0.029380	0	0
CABLES1	91768	broad.mit.edu	37	18	20716393	20716393	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr18:20716393G>A	ENST00000256925.7	+	1	667	c.667G>A	c.(667-669)Gcc>Acc	p.A223T	CABLES1_ENST00000400473.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	223	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCCGGCGGCCGCCTTTTTGGG	0.692000													12	10					0	0	0.010729	0	0
KIF9	64147	broad.mit.edu	37	3	47286388	47286388	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:47286388G>A	ENST00000335044.2	-	15	1764	c.1407C>T	c.(1405-1407)caC>caT	p.H469H	KIF9_ENST00000444589.2_Silent_p.H469H|KIF9_ENST00000265529.3_Silent_p.H469H|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000452770.2_Silent_p.H469H|KIF9_ENST00000352910.4_Silent_p.H376H|KIF9_ENST00000487440.1_5'UTR	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	469					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CACCCACTAGGTGGCCATCAA	0.517000													11	44					0	0	0.010729	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162845	33162845	+	RNA	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:33162845G>T	ENST00000510327.1	-	0	346																											CCGAGCAGATGGCTATGTGCT	0.483000													14	12					2.62699e-14	3.39558e-14	0.024245	1	0
CFHR4	10877	broad.mit.edu	37	1	196857314	196857314	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:196857314T>C	ENST00000367416.2	+	1	171	c.34T>C	c.(34-36)Tgg>Cgg	p.W12R	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.W12R|CFHR4_ENST00000251424.4_Missense_Mutation_p.W12R	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TCTGACCTTGTGGGTTTCCTG	0.348000													13	51					0	0	0.020292	0	0
GPR50	9248	broad.mit.edu	37	X	150349409	150349409	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:150349409C>T	ENST00000218316.3	+	2	1423	c.1354C>T	c.(1354-1356)Cat>Tat	p.H452Y		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	452	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGACTCTGTCCATTTCAAGGG	0.552000													280	372					0	0	0.014410	0	0
ANO1	55107	broad.mit.edu	37	11	69950160	69950160	+	Missense_Mutation	SNP	A	A	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:69950160A>T	ENST00000355303.5	+	4	901	c.596A>T	c.(595-597)cAg>cTg	p.Q199L	ANO1_ENST00000398543.2_Missense_Mutation_p.Q83L|ANO1_ENST00000538023.1_Missense_Mutation_p.Q199L|ANO1_ENST00000316296.5_Missense_Mutation_p.Q171L|ANO1_ENST00000530676.1_Missense_Mutation_p.Q83L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	199					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TCTGTGCTCCAGAAAATCACA	0.532000													3	13					0	0	0.004672	0	0
UBFD1	56061	broad.mit.edu	37	16	23581814	23581814	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:23581814G>T	ENST00000395878.3	+	7	1214	c.833G>T	c.(832-834)gGc>gTc	p.G278V	UBFD1_ENST00000567212.1_Missense_Mutation_p.G269V|UBFD1_ENST00000219638.4_Missense_Mutation_p.G502V	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	278										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		TTTCAGTTGGGCCCCACGGAA	0.507000													36	72					9.73076e-26	1.35226e-25	0.027894	1	0
RNF213	57674	broad.mit.edu	37	17	78286894	78286894	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr17:78286894G>A	ENST00000582970.1	+	15	2881	c.2738G>A	c.(2737-2739)tGg>tAg	p.W913*	RNF213_ENST00000456466.1_Nonsense_Mutation_p.W913*|RNF213_ENST00000319921.4_Nonsense_Mutation_p.W913*|RNF213_ENST00000508628.2_Nonsense_Mutation_p.W962*	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	913										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACGAAAAGGTGGCTCCGAGAA	0.468000													33	107					0	0	0.012213	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573212	140573212	+	Missense_Mutation	SNP	A	A	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:140573212A>T	ENST00000239446.4	+	1	1271	c.1087A>T	c.(1087-1089)Acg>Tcg	p.T363S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		363	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCCTGAGACGCCGCTGGC	0.413000													26	58					0	0	0.021523	0	0
GPR50	9248	broad.mit.edu	37	X	150349408	150349408	+	Silent	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:150349408C>A	ENST00000218316.3	+	2	1422	c.1353C>A	c.(1351-1353)gtC>gtA	p.V451V		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	451	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTGACTCTGTCCATTTCAAGG	0.547000													282	369					4.60779e-138	6.8538e-138	0.014410	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144930733	144930733	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:144930733G>A	ENST00000529945.1	-	1	1415	c.976C>T	c.(976-978)Cct>Tct	p.P326S	PDE4DIP_ENST00000313431.9_Missense_Mutation_p.P326S|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTCATGCTAGGGCCAGGCTTG	0.502000			T	PDGFRB	MPD								25	133					0	0	0.018920	0	0
HAX1	10456	broad.mit.edu	37	1	154247719	154247719	+	Missense_Mutation	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:154247719A>G	ENST00000328703.7	+	5	859	c.646A>G	c.(646-648)Atc>Gtc	p.I216V	HAX1_ENST00000457918.2_Missense_Mutation_p.I168V|HAX1_ENST00000532105.1_Missense_Mutation_p.I88V|HAX1_ENST00000483970.2_Missense_Mutation_p.I224V	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	216	Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Involved in PLN binding.|Required for localization in sarcoplasmic reticulum (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGTGACCAAGATCACTAAACC	0.488000									Kostmann syndrome				25	60					0	0	0.016522	0	0
FGF17	8822	broad.mit.edu	37	8	21905620	21905620	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:21905620G>A	ENST00000359441.3	+	5	1014	c.511G>A	c.(511-513)Gag>Aag	p.E171K	FGF17_ENST00000521709.1_3'UTR|FGF17_ENST00000518533.1_Missense_Mutation_p.E160K	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN	fibroblast growth factor 17	171					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		GAACCAGCGCGAGGCCCACTT	0.682000													7	14					0	0	0.003080	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	52					0	0	0.029380	0	0
RPN1	6184	broad.mit.edu	37	3	128356933	128356933	+	Silent	SNP	T	T	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:128356933T>G	ENST00000296255.3	-	3	390	c.342A>C	c.(340-342)acA>acC	p.T114T	RPN1_ENST00000497289.1_5'UTR	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	114					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		GGAGCTTGACTGTGAAGAATC	0.443000			T	EVI1	AML								6	29					0	0	0.021553	0	0
HRH2	3274	broad.mit.edu	37	5	175110355	175110355	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:175110355G>C	ENST00000231683.2	+	1	1892	c.119G>C	c.(118-120)tGt>tCt	p.C40S	HRH2_ENST00000377291.2_Missense_Mutation_p.C40S	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	40					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	GTGGTCGTCTGTCTGGCCGTG	0.592000													35	155					0	0	0.017118	0	0
TRMT6	51605	broad.mit.edu	37	20	5921749	5921749	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:5921749C>A	ENST00000203001.2	-	10	1382	c.1252G>T	c.(1252-1254)Gga>Tga	p.G418*	TRMT6_ENST00000453074.2_Nonsense_Mutation_p.G248*|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	418					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ATGACCCCTCCCCTCTCCCGC	0.483000													79	148					1.42074e-37	2.07162e-37	0.014410	1	0
CD177	57126	broad.mit.edu	37	19	43858435	43858435	+	RNA	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:43858435G>T	ENST00000378009.4	+	0	312				CD177_ENST00000607517.1_RNA|CD177_ENST00000378012.2_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CTGAGCACCGGATGGGCCCCG	0.652000													12	19					5.16669e-11	6.39891e-11	0.010729	1	0
RAG1	5896	broad.mit.edu	37	11	36595915	36595915	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:36595915T>A	ENST00000299440.5	+	2	1173	c.1061T>A	c.(1060-1062)cTg>cAg	p.L354Q		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	354					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTGAATTCCCTGATGGTGAAA	0.443000									Familial Hemophagocytic Lymphohistiocytosis				11	44					0	0	0.010729	0	0
TMEM57	55219	broad.mit.edu	37	1	25824898	25824898	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:25824898G>A	ENST00000374343.4	+	11	2115	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	TMEM57_ENST00000399763.3_Missense_Mutation_p.E288K|TMEM57_ENST00000399766.3_Missense_Mutation_p.E419K	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	646						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CAAATTTGTGGAGACCAGCCC	0.542000													23	110					0	0	0.021523	0	0
FAM171B	165215	broad.mit.edu	37	2	187605026	187605026	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:187605026G>A	ENST00000304698.5	+	2	513	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	104						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGCAGTTGTAGAAGTGTTTGT	0.383000													19	27					0	0	0.006122	0	0
PCLO	27445	broad.mit.edu	37	7	82389981	82389981	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:82389981G>A	ENST00000333891.8	-	24	15599	c.15262C>T	c.(15262-15264)Cta>Tta	p.L5088L		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	5011					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCAGGACTTAGACTGAATCGA	0.323000													19	40					0	0	0.012319	0	0
RD3	343035	broad.mit.edu	37	1	211654714	211654714	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:211654714C>A	ENST00000367002.4	-	2	1207	c.44G>T	c.(43-45)cGg>cTg	p.R15L	RD3_ENST00000484910.1_Intron	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	15					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GGTGGACAGCCGGGATGGGGC	0.622000													24	66					2.79863e-10	3.42312e-10	0.024334	1	0
SLC5A4	6527	broad.mit.edu	37	22	32621724	32621724	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr22:32621724G>C	ENST00000266086.4	-	12	1378	c.1367C>G	c.(1366-1368)aCa>aGa	p.T456R	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	456					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AATTGATTCTGTGTAATGGAT	0.398000													8	22					0	0	0.006214	0	0
CYLC1	1538	broad.mit.edu	37	X	83129064	83129064	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:83129064C>A	ENST00000329312.4	+	4	1385	c.1348C>A	c.(1348-1350)Ccg>Acg	p.P450T		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	450					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TGACTCTGAACCGAAGGGAGA	0.343000													10	24					2.17888e-05	2.41553e-05	0.006214	1	0
STK11	6794	broad.mit.edu	37	19	1220699	1220699	+	Missense_Mutation	SNP	G	G	T	rs137853082		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:1220699G>T	ENST00000326873.7	+	5	1890	c.717G>T	c.(715-717)tgG>tgT	p.W239C		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	239	Protein kinase.		W -> C (in PJS; late onset suggests reduced penetrance).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.W239C(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACATCTGGTCGGCTGGGG	0.701000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			15	12					6.94344e-10	8.42319e-10	0.006122	1	0
TSPAN16	26526	broad.mit.edu	37	19	11417396	11417396	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:11417396C>T	ENST00000316737.1	+	5	717	c.567C>T	c.(565-567)gaC>gaT	p.D189D	TSPAN16_ENST00000592955.1_Silent_p.D164D|TSPAN16_ENST00000590327.1_Silent_p.D189D|CTC-510F12.4_ENST00000586356.1_RNA	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	189						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						TGTCCTGTGACGGACGCGATG	0.478000													6	23					0	0	0.021553	0	0
GPR151	134391	broad.mit.edu	37	5	145895386	145895386	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:145895386C>T	ENST00000311104.2	-	1	367	c.291G>A	c.(289-291)acG>acA	p.T97T		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	97						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAGTACGCCGTAGCTCGGA	0.507000													19	91					0	0	0.010504	0	0
WHSC1	7468	broad.mit.edu	37	4	1918695	1918695	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:1918695A>G	ENST00000503128.1	+	4	1065	c.858A>G	c.(856-858)ggA>ggG	p.G286G	WHSC1_ENST00000508803.1_Silent_p.G286G|WHSC1_ENST00000420906.2_Silent_p.G286G|WHSC1_ENST00000382891.5_Silent_p.G286G|WHSC1_ENST00000382892.2_Silent_p.G286G|WHSC1_ENST00000382895.3_Silent_p.G286G|WHSC1_ENST00000398261.1_Silent_p.G286G|WHSC1_ENST00000514045.1_Silent_p.G286G			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	286	PWWP 1.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CTTTTGAAGGAGAAGGACAGT	0.443000			T	IGH@	MM								17	35					0	0	0.033300	0	0
RELN	5649	broad.mit.edu	37	7	103131239	103131239	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:103131239G>T	ENST00000428762.1	-	59	9640	c.9481C>A	c.(9481-9483)Cct>Act	p.P3161T	RELN_ENST00000424685.2_Missense_Mutation_p.P3161T|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.P3161T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3161					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAAGAGGAAGGAAGGCACTGG	0.448000													13	31					4.3838e-07	5.04905e-07	0.016723	1	0
PPP6R3	55291	broad.mit.edu	37	11	68305257	68305257	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:68305257G>T	ENST00000393799.2	+	3	392	c.125G>T	c.(124-126)cGc>cTc	p.R42L	PPP6R3_ENST00000524904.1_Missense_Mutation_p.R42L|PPP6R3_ENST00000265636.5_Missense_Mutation_p.R42L|PPP6R3_ENST00000393800.2_Missense_Mutation_p.R42L|PPP6R3_ENST00000527403.2_Missense_Mutation_p.R42L|PPP6R3_ENST00000265637.4_Missense_Mutation_p.R42L|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000529710.1_Missense_Mutation_p.R42L|PPP6R3_ENST00000524845.1_Missense_Mutation_p.R42L|PPP6R3_ENST00000393801.3_Missense_Mutation_p.R42L			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	42					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GCTCAGAACCGCAAACTTATA	0.368000													15	27					3.27435e-08	3.84606e-08	0.020292	1	0
SSPO	23145	broad.mit.edu	37	7	149494420	149494420	+	RNA	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:149494420C>T	ENST00000378016.2	+	0	6891							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCTGCTGCACTGGCCCAGGG	0.657000													18	36					0	0	0.006122	0	0
SNX31	169166	broad.mit.edu	37	8	101629862	101629862	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:101629862C>A	ENST00000311812.2	-	5	568	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	SNX31_ENST00000428383.2_Nonsense_Mutation_p.E41*	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	140					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			AGGACTCTTTCAGCAGTGTCT	0.403000													243	57					2.05815e-117	3.04607e-117	0.014410	1	0
PRR14L	253143	broad.mit.edu	37	22	32072908	32072908	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr22:32072908C>T	ENST00000397493.2	-	9	6468	c.6276G>A	c.(6274-6276)ctG>ctA	p.L2092L				Q5THK1	PR14L_HUMAN	proline rich 14-like	0										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GGCGTGAGGCCAGCAGTGGGT	0.622000													3	9					0	0	0.009096	0	0
PDE6B	5158	broad.mit.edu	37	4	628571	628571	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:628571G>T	ENST00000255622.6	+	2	617	c.574G>T	c.(574-576)Gca>Tca	p.A192S	PDE6B_ENST00000496514.1_Missense_Mutation_p.A192S	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	192	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GGTGATCATGGCAGTGAACAA	0.567000													30	50					3.90053e-15	5.13136e-15	0.012213	1	0
PDE1C	5137	broad.mit.edu	37	7	31862701	31862701	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:31862701G>A	ENST00000396184.3	-	15	1772	c.1568C>T	c.(1567-1569)gCc>gTc	p.A523V	PDE1C_ENST00000321453.7_Missense_Mutation_p.A523V|PDE1C_ENST00000396191.1_Missense_Mutation_p.A523V|PDE1C_ENST00000396182.2_Missense_Mutation_p.A523V|PDE1C_ENST00000396193.1_Missense_Mutation_p.A583V	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	523					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GGGTACCTTGGCCCTCCATCT	0.458000													28	90					0	0	0.034045	0	0
OGT	8473	broad.mit.edu	37	X	70783197	70783197	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:70783197G>A	ENST00000373719.3	+	18	2501	c.2284G>A	c.(2284-2286)Gga>Aga	p.G762R	OGT_ENST00000373701.3_Missense_Mutation_p.G752R	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	762					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TCCTGATGGAGGAGACAATGC	0.363000													26	84					0	0	0.009535	0	0
NARG2	79664	broad.mit.edu	37	15	60768320	60768320	+	Missense_Mutation	SNP	T	T	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:60768320T>G	ENST00000261520.4	-	3	322	c.88A>C	c.(88-90)Aat>Cat	p.N30H	NARG2_ENST00000558654.1_5'UTR|NARG2_ENST00000561114.1_Missense_Mutation_p.N30H|NARG2_ENST00000439632.1_5'UTR	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	30						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TCTTTATAATTTTCTCGAGAG	0.313000													6	42					0	0	0.021553	0	0
EMR3	84658	broad.mit.edu	37	19	14755018	14755018	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:14755018T>C	ENST00000253673.5	-	9	1052	c.952A>G	c.(952-954)Agg>Ggg	p.R318G	EMR3_ENST00000443157.2_Missense_Mutation_p.R192G|EMR3_ENST00000344373.4_Missense_Mutation_p.R266G|EMR3_ENST00000599900.1_Missense_Mutation_p.R103G	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	318	GPS.				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CAGCCATCCCTGGACCACTGG	0.517000													19	29					0	0	0.010504	0	0
SLC6A2	6530	broad.mit.edu	37	16	55705996	55705996	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:55705996T>A	ENST00000379906.2	+	3	808	c.553T>A	c.(553-555)Tgt>Agt	p.C185S	SLC6A2_ENST00000568943.1_Missense_Mutation_p.C185S|SLC6A2_ENST00000567238.1_Missense_Mutation_p.C80S|SLC6A2_ENST00000566163.1_Missense_Mutation_p.C185S|SLC6A2_ENST00000414754.3_Missense_Mutation_p.C185S|SLC6A2_ENST00000561820.1_Missense_Mutation_p.C185S|SLC6A2_ENST00000219833.8_Missense_Mutation_p.C185S	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	185					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CAGCCCCAACTGTACCGACCC	0.557000													44	38					0	0	0.014410	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803031	185803031	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:185803031C>G	ENST00000302277.6	+	4	3502	c.2908C>G	c.(2908-2910)Ctt>Gtt	p.L970V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	970						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAAATCCTATCTTTGCCATTA	0.388000													23	152					0	0	0.024334	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													5	78					0	0	0.014758	0	0
KRTAP19-2	337969	broad.mit.edu	37	21	31859623	31859623	+	Silent	SNP	C	C	T	rs149309849		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr21:31859623C>T	ENST00000334055.3	-	1	132	c.45G>A	c.(43-45)ctG>ctA	p.L15L		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	15						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AGCCATAGCCCAGTCTGCAGA	0.552000													63	95					0	0	0.014410	0	0
OR4E2	26686	broad.mit.edu	37	14	22133530	22133530	+	Silent	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr14:22133530G>T	ENST00000408935.1	+	1	234	c.234G>T	c.(232-234)gtG>gtT	p.V78V		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CTGTCACTGTGCCTAAGATGT	0.443000													98	175					6.00224e-42	8.83912e-42	0.014410	1	0
COL11A2	1302	broad.mit.edu	37	6	33143435	33143435	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:33143435G>A	ENST00000341947.2	-	30	2519	c.2292C>T	c.(2290-2292)tcC>tcT	p.S764S	COL11A2_ENST00000374708.4_Silent_p.S678S|COL11A2_ENST00000361917.1_Silent_p.S657S|COL11A2_ENST00000395197.1_Silent_p.S704S|COL11A2_ENST00000374714.1_Silent_p.S738S|COL11A2_ENST00000374712.1_Silent_p.S683S|COL11A2_ENST00000374713.1_Silent_p.S717S|COL11A2_ENST00000357486.1_Silent_p.S743S|COL11A2_ENST00000477772.1_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	764	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCTCTCCCCTGGAACCAGGGA	0.637000													18	50					0	0	0.006122	0	0
MED14	9282	broad.mit.edu	37	X	40568708	40568708	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:40568708C>G	ENST00000324817.1	-	10	1295	c.1177G>C	c.(1177-1179)Gac>Cac	p.D393H		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	393	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATAAGTGGTCGATCTGCATA	0.353000													12	22					0	0	0.016723	0	0
OGFR	11054	broad.mit.edu	37	20	61438897	61438897	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:61438897G>C	ENST00000290291.6	+	2	205	c.180G>C	c.(178-180)atG>atC	p.M60I	OGFR_ENST00000370468.3_Missense_Mutation_p.M60I|OGFR_ENST00000370461.1_5'UTR	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	60				DAGDEDEESEEPRAARPSSFQSRMTGSRNWRATRDMCRYRH NYP -> GARRALGVLGQPGGLQMRLPERHGGPQGSLCLMD PCCPLSLALQ (in Ref. 5).	regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					AGTCCAGAATGACAGGGTCCA	0.617000													23	50					0	0	0.014323	0	0
ATP7A	538	broad.mit.edu	37	X	77267089	77267089	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:77267089C>A	ENST00000341514.6	+	9	2245	c.2090C>A	c.(2089-2091)tCt>tAt	p.S697Y	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.S697Y	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	697					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AACCTTCATTCTTCTATGTTC	0.388000													129	194					3.33775e-37	4.843e-37	0.014410	1	0
EPHA5	2044	broad.mit.edu	37	4	66467497	66467497	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:66467497C>T	ENST00000273854.3	-	3	1372	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	EPHA5_ENST00000511294.1_Missense_Mutation_p.V258M|EPHA5_ENST00000354839.4_Missense_Mutation_p.V258M|EPHA5_ENST00000432638.2_Missense_Mutation_p.V258M	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	258	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GAGCCTGACACTTCGAGCAAT	0.517000										TSP Lung(17;0.13)			4	29					0	0	0.009096	0	0
HHIPL1	84439	broad.mit.edu	37	14	100119151	100119151	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr14:100119151C>T	ENST00000330710.5	+	2	944	c.846C>T	c.(844-846)atC>atT	p.I282I	HHIPL1_ENST00000357223.2_Silent_p.I282I	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	282					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GGATCCGCATCAGCGAGTTCA	0.627000													5	35					0	0	0.014758	0	0
TMEM61	199964	broad.mit.edu	37	1	55457596	55457596	+	Silent	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:55457596T>A	ENST00000371268.3	+	3	727	c.453T>A	c.(451-453)ccT>ccA	p.P151P	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	151						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						CTGCATACCCTACGGAGGAAG	0.627000													32	51					0	0	0.009535	0	0
C16orf80	29105	broad.mit.edu	37	16	58148723	58148723	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:58148723G>A	ENST00000262498.3	-	5	901	c.567C>T	c.(565-567)aaC>aaT	p.N189N		NM_013242.2	NP_037374.1	Q9Y6A4	CP080_HUMAN	chromosome 16 open reading frame 80	189					multicellular organismal development					kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCTTTGCCTTGTTCTGAACTG	0.517000													11	63					0	0	0.010729	0	0
PHACTR2	9749	broad.mit.edu	37	6	144086516	144086516	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:144086516A>G	ENST00000427704.2	+	6	910	c.780A>G	c.(778-780)acA>acG	p.T260T	PHACTR2_ENST00000367584.4_Silent_p.T248T|PHACTR2_ENST00000440869.2_Silent_p.T271T|PHACTR2_ENST00000367582.3_Silent_p.T191T|PHACTR2_ENST00000305766.6_Silent_p.T180T	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	260							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AAGCAGGGACAGTGGGGACCA	0.488000													23	59					0	0	0.014323	0	0
KCNH1	3756	broad.mit.edu	37	1	211264027	211264027	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:211264027G>A	ENST00000367007.4	-	4	485	c.316C>T	c.(316-318)Cct>Tct	p.P106S	KCNH1_ENST00000271751.4_Missense_Mutation_p.P106S	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	106	PAC.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AACCACACAGGTGTCCCTGAA	0.378000													7	57					0	0	0.004482	0	0
RYR2	6262	broad.mit.edu	37	1	237886564	237886564	+	Splice_Site	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:237886564T>A	ENST00000366574.2	+	74	11006		c.e74+2		RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						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			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)			CTTGAACAGGTCAGGCTTTGT	0.343000													15	45					0	0	0.024245	0	0
HMHA1	23526	broad.mit.edu	37	19	1080092	1080092	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:1080092G>C	ENST00000313093.2	+	13	1909	c.1678G>C	c.(1678-1680)Gag>Cag	p.E560Q	HMHA1_ENST00000590214.1_Missense_Mutation_p.E587Q|HMHA1_ENST00000590577.1_Missense_Mutation_p.E195Q|HMHA1_ENST00000539243.2_Missense_Mutation_p.E576Q|HMHA1_ENST00000536472.1_Missense_Mutation_p.E400Q|HMHA1_ENST00000543365.1_Missense_Mutation_p.E443Q|HMHA1_ENST00000586866.1_Missense_Mutation_p.E564Q	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	560					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTACGACTTTGAGCCCCACGT	0.687000													20	16					0	0	0.010504	0	0
RP11-287D1.3	0	broad.mit.edu	37	2	74589189	74589189	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:74589189G>A	ENST00000451608.2	-	4	427	c.428C>T	c.(427-429)gCc>gTc	p.A143V	DCTN1_ENST00000361874.3_Missense_Mutation_p.A1230V|DCTN1_ENST00000409240.1_Missense_Mutation_p.A1188V|DCTN1_ENST00000394003.3_Missense_Mutation_p.A1223V|DCTN1_ENST00000409438.1_Missense_Mutation_p.A1091V|DCTN1_ENST00000409868.1_Missense_Mutation_p.A1208V|DCTN1_ENST00000407639.2_Missense_Mutation_p.A1096V|DCTN1_ENST00000409567.3_Missense_Mutation_p.A1205V																							CCTGAGGAAGGCTGATGAAGG	0.602000													21	49					0	0	0.014323	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854567	18854567	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:18854567C>T	ENST00000538330.1	-	5	612	c.231G>A	c.(229-231)gaG>gaA	p.E77E	PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000542762.1_Intron|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000447925.2_Intron|PLCZ1_ENST00000266505.7_Intron|PLCZ1_ENST00000541695.1_Intron			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	317					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					cctcctcctcctcctcctcct	0.453000													4	11					0	0	0.009096	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60217600	60217600	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr18:60217600C>T	ENST00000269499.5	+	5	1638	c.1220C>T	c.(1219-1221)tCa>tTa	p.S407L	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.S86L	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	407					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GAACTGTCTTCAGAGACTTTT	0.398000													15	10					0	0	0.024245	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229981	87229981	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:87229981T>A	ENST00000297524.3	-	3	1000	c.897A>T	c.(895-897)ttA>ttT	p.L299F	SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Missense_Mutation_p.L290F	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	299						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GGTTGCTAAATAATGAGGTAG	0.373000													5	272					0	0	0.014758	0	0
FOXP1	27086	broad.mit.edu	37	3	71161757	71161757	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:71161757T>C	ENST00000318789.4	-	7	737	c.212A>G	c.(211-213)cAg>cGg	p.Q71R	FOXP1_ENST00000498215.1_Missense_Mutation_p.Q71R|FOXP1_ENST00000468577.1_Missense_Mutation_p.Q71R|FOXP1_ENST00000493089.1_Missense_Mutation_p.Q71R|FOXP1_ENST00000475937.1_Missense_Mutation_p.Q71R|FOXP1_ENST00000491238.1_Missense_Mutation_p.Q73R|FOXP1_ENST00000484350.1_Missense_Mutation_p.Q71R	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	71	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTGTTGCTGCTGAAGAAGGAG	0.408000			T	PAX5	ALL								15	96					0	0	0.006122	0	0
MME	4311	broad.mit.edu	37	3	154884801	154884801	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:154884801G>T	ENST00000460393.1	+	18	1891	c.1771G>T	c.(1771-1773)Gat>Tat	p.D591Y	MME_ENST00000492661.1_Missense_Mutation_p.D591Y|MME_ENST00000493237.1_Missense_Mutation_p.D591Y|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000462745.1_Missense_Mutation_p.D591Y|MME_ENST00000360490.2_Missense_Mutation_p.D591Y	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	591					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CCATGGCTTCGATGACAATGG	0.423000													31	52					7.61165e-28	1.06276e-27	0.017118	1	0
PRDM11	56981	broad.mit.edu	37	11	45204512	45204512	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:45204512G>A	ENST00000263765.4	+	5	675	c.426G>A	c.(424-426)cgG>cgA	p.R142R	PRDM11_ENST00000424263.2_Silent_p.R108R|PRDM11_ENST00000530656.1_Silent_p.R142R|PRDM11_ENST00000528980.1_3'UTR			Q9NQV5	PRD11_HUMAN	PR domain containing 11	142										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TCCCAGACCGGGCGGCGCTCA	0.602000													4	61					0	0	0.014758	0	0
AARS	16	broad.mit.edu	37	16	70291981	70291981	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:70291981G>C	ENST00000261772.8	-	15	2275	c.2132C>G	c.(2131-2133)tCt>tGt	p.S711C	AARS_ENST00000564359.1_Intron	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	711					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	AGCAGGCCCAGAGGGGTCATC	0.587000													4	23					0	0	0.009096	0	0
LMTK2	22853	broad.mit.edu	37	7	97784092	97784092	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:97784092C>T	ENST00000297293.5	+	5	766	c.473C>T	c.(472-474)aCg>aTg	p.T158M		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	158	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GAGATTTACACGGGCACTAGC	0.388000													26	91					0	0	0.012213	0	0
TRPV6	55503	broad.mit.edu	37	7	142573427	142573427	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:142573427G>T	ENST00000359396.3	-	8	1161	c.916C>A	c.(916-918)Cag>Aag	p.Q306K		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	306					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCCAGGATCTGGCGAGCCTGC	0.602000													37	56					3.76114e-14	4.84042e-14	0.019004	1	0
SPRR4	163778	broad.mit.edu	37	1	152944388	152944388	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:152944388C>T	ENST00000328051.2	+	2	71	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	8	Gln-rich.				keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gcagcagcagcggcagcagca	0.552000													37	102					0	0	0.017118	0	0
SULT1B1	27284	broad.mit.edu	37	4	70599959	70599959	+	Silent	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:70599959G>C	ENST00000310613.2	-	5	696	c.399C>G	c.(397-399)gcC>gcG	p.A133A		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	133					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AAACATCCTTGGCATTACGAG	0.363000													7	17					0	0	0.029380	0	0
SGOL1	151648	broad.mit.edu	37	3	20216419	20216419	+	Missense_Mutation	SNP	T	T	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:20216419T>G	ENST00000412997.1	-	6	955	c.604A>C	c.(604-606)Ata>Cta	p.I202L	SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000421451.1_Missense_Mutation_p.I202L|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000412868.1_Missense_Mutation_p.I202L|SGOL1_ENST00000425061.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000263753.4_Missense_Mutation_p.I202L	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	202					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						AACTGACATATACTGTTACAA	0.358000													14	63					0	0	0.016723	0	0
EDIL3	10085	broad.mit.edu	37	5	83476214	83476214	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:83476214G>T	ENST00000296591.5	-	4	770	c.352C>A	c.(352-354)Cac>Aac	p.H118N	EDIL3_ENST00000380138.3_Missense_Mutation_p.H108N	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	118					cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		AACTTACTGTGCTGACAGTGA	0.348000													8	8					1.12685e-05	1.26344e-05	0.004482	1	0
RBM12	10137	broad.mit.edu	37	20	34242137	34242137	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:34242137G>A	ENST00000374114.3	-	3	1371	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	RBM12_ENST00000359646.1_Missense_Mutation_p.R370C|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.R370C	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	370	RRM 1.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCCACATAGCGTTGAATCATC	0.428000											OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	34	115					0	0	0.013726	0	0
ANKRD36B	57730	broad.mit.edu	37	2	98171707	98171707	+	RNA	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:98171707C>A	ENST00000443455.1	-	0	1190							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		CTGGTTGTTTCTGAGAAGACA	0.289000													13	21					6.49762e-13	8.25449e-13	0.006122	1	0
BCL2A1	597	broad.mit.edu	37	15	80263323	80263323	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:80263323C>A	ENST00000267953.3	-	1	465	c.139G>T	c.(139-141)Gaa>Taa	p.E47*	BCL2A1_ENST00000335661.6_Nonsense_Mutation_p.E47*	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	47					anti-apoptosis|apoptosis	cytoplasm	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						TTTTCCACTTCTTTTTGGACT	0.438000													20	67					1.56452e-12	1.96228e-12	0.007413	1	0
HERC1	8925	broad.mit.edu	37	15	64041977	64041977	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:64041977C>T	ENST00000443617.2	-	9	2003	c.1916G>A	c.(1915-1917)gGc>gAc	p.G639D		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	639					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGCTCCACAGCCCCAAGCATA	0.383000													4	2					0	0	0.014758	0	0
OR9I1	219954	broad.mit.edu	37	11	57886277	57886277	+	Missense_Mutation	SNP	T	T	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:57886277T>G	ENST00000302610.1	-	1	639	c.640A>C	c.(640-642)Atc>Ctc	p.I214L	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GAAATCAGGATGACGGAGGCA	0.483000													11	28					0	0	0.010729	0	0
OPN1SW	611	broad.mit.edu	37	7	128415840	128415840	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:128415840C>G	ENST00000249389.2	-	1	4	c.5G>C	c.(4-6)aGa>aCa	p.R2T		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	2					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						CGACATTTTTCTCATGGATGC	0.507000													4	19					0	0	0.009096	0	0
HERC5	51191	broad.mit.edu	37	4	89410318	89410318	+	Splice_Site	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:89410318G>C	ENST00000264350.3	+	16	2117	c.1962_splice	c.e16-1	p.S655_splice	HERC5_ENST00000508159.1_Splice_Site_p.S293_splice	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	655					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TTTTCCTAGAGTAAAAAACAT	0.368000													15	29					0	0	0.020292	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368705	18368705	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:18368705C>A	ENST00000392413.3	-	4	3604	c.3389G>T	c.(3388-3390)cGt>cTt	p.R1130L	KIAA1683_ENST00000600359.2_Missense_Mutation_p.R897L|KIAA1683_ENST00000600328.2_Missense_Mutation_p.R943L	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	1130	IQ 5.					mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GATCCTGCGACGCGCCAGGTA	0.672000													23	30					3.62473e-10	4.41531e-10	0.012319	1	0
RYR2	6262	broad.mit.edu	37	1	237947973	237947973	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:237947973G>T	ENST00000366574.2	+	90	13278	c.12961G>T	c.(12961-12963)Ggt>Tgt	p.G4321C	RYR2_ENST00000360064.6_Missense_Mutation_p.G4327C|RYR2_ENST00000542537.1_Missense_Mutation_p.G4305C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4321					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.G4319S(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)			CCTCGTCGAAGGTGCTAAAAA	0.522000													6	74					1.26484e-09	1.51577e-09	0.003080	1	0
CTCF	10664	broad.mit.edu	37	16	67662384	67662384	+	Missense_Mutation	SNP	C	C	T	rs112926498		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:67662384C>T	ENST00000264010.4	+	9	2074	c.1630C>T	c.(1630-1632)Cgc>Tgc	p.R544C	CTCF_ENST00000401394.1_Missense_Mutation_p.R216C	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	544					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GCACTTCAAGCGCTATCACGA	0.537000													49	78					0	0	0.014410	0	0
KIFAP3	22920	broad.mit.edu	37	1	169951914	169951914	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:169951914G>A	ENST00000367765.1	-	14	2982	c.1481C>T	c.(1480-1482)cCa>cTa	p.P494L	KIFAP3_ENST00000540905.1_Missense_Mutation_p.P236L|KIFAP3_ENST00000361580.2_Missense_Mutation_p.P534L|KIFAP3_ENST00000367767.1_Missense_Mutation_p.P490L|KIFAP3_ENST00000538366.1_Missense_Mutation_p.P456L	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	534					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTCTAAGTCTGGAATGGTCAA	0.378000													24	66					0	0	0.016522	0	0
SGIP1	84251	broad.mit.edu	37	1	67155945	67155945	+	Missense_Mutation	SNP	A	A	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:67155945A>C	ENST00000371037.4	+	17	1593	c.1516A>C	c.(1516-1518)Act>Cct	p.T506P	SGIP1_ENST00000371036.3_Missense_Mutation_p.T306P|SGIP1_ENST00000371039.1_Missense_Mutation_p.T307P|SGIP1_ENST00000237247.6_Missense_Mutation_p.T537P|SGIP1_ENST00000371035.3_Missense_Mutation_p.T296P	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	506					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GGCTGAAAGCACTTCTTCAAT	0.468000													57	87					0	0	0.014410	0	0
PMVK	10654	broad.mit.edu	37	1	154897618	154897618	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:154897618C>T	ENST00000368467.3	-	5	871	c.566G>A	c.(565-567)cGc>cAc	p.R189H		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	189					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAGTCTGGAGCGGATAAATTC	0.572000													48	119					0	0	0.014410	0	0
SCN8A	6334	broad.mit.edu	37	12	52080931	52080931	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:52080931G>A	ENST00000354534.5	+	5	720	c.542G>A	c.(541-543)gGt>gAt	p.G181D	SCN8A_ENST00000550891.1_Missense_Mutation_p.G181D|SCN8A_ENST00000545061.1_Missense_Mutation_p.G181D	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	181					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ATTGCAAGAGGTTTCTGCATA	0.393000													5	71					0	0	0.014758	0	0
PROP1	5626	broad.mit.edu	37	5	177421211	177421211	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:177421211G>T	ENST00000308304.2	-	2	546	c.238C>A	c.(238-240)Cag>Aag	p.Q80K		NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	80					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTTCCAACTGCACTGGGCTG	0.667000													27	54					2.44723e-14	3.1911e-14	0.024334	1	0
NADK	65220	broad.mit.edu	37	1	1685646	1685646	+	Splice_Site	SNP	T	T	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:1685646T>G	ENST00000344463.4	-	12	1601	c.1378_splice	c.e12-1	p.G460_splice	NADK_ENST00000342348.5_Splice_Site_p.G283_splice|NADK_ENST00000378625.1_Splice_Site_p.G460_splice|NADK_ENST00000341991.3_Splice_Site_p.G315_splice|NADK_ENST00000341426.5_Splice_Site_p.G315_splice			O95544	NADK_HUMAN	NAD kinase	315					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		ACACGATCACTCCTGACAGGG	0.697000													5	40					0	0	0.014758	0	0
TTN	7273	broad.mit.edu	37	2	179480201	179480201	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:179480201G>C	ENST00000589042.1	-	259	48695	c.48471C>G	c.(48469-48471)gaC>gaG	p.D16157E	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7092E|TTN_ENST00000342992.6_Missense_Mutation_p.D13589E|TTN_ENST00000359218.5_Missense_Mutation_p.D7217E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D14516E|TTN_ENST00000342175.6_Missense_Mutation_p.D7284E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14516	Fibronectin type-III 17.						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)			TCTCTGGTGGGTCAGGTACCG	0.458000													129	175					0	0	0.014410	0	0
PCSK5	5125	broad.mit.edu	37	9	78790192	78790192	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr9:78790192C>G	ENST00000376767.3	+	14	2559	c.2047C>G	c.(2047-2049)Cga>Gga	p.R683G	PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ggaatggaatcgaatcgaatc	0.373000													2	1					0	0	0.004672	0	0
EDEM3	80267	broad.mit.edu	37	1	184672036	184672036	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:184672036G>A	ENST00000318130.8	-	19	2564	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F	EDEM3_ENST00000367512.3_Silent_p.F723F|EDEM3_ENST00000466392.1_5'UTR	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	766	PA.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCTGAATAAGAACAGCATGG	0.468000													9	53					0	0	0.004482	0	0
ANKRD12	23253	broad.mit.edu	37	18	9257097	9257097	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr18:9257097G>T	ENST00000383440.2	+	8	4020	c.3763G>T	c.(3763-3765)Gca>Tca	p.A1255S	ANKRD12_ENST00000262126.3_Missense_Mutation_p.A1278S|ANKRD12_ENST00000400020.3_Missense_Mutation_p.A1255S	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1278						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ACCACCATATGCAAACAGACT	0.433000													43	72					1.32136e-16	1.75391e-16	0.033182	1	0
GABRG3	2567	broad.mit.edu	37	15	27765254	27765254	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:27765254A>G	ENST00000333743.6	+	7	1103	c.849A>G	c.(847-849)ccA>ccG	p.P283P	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	283					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		ATGCTACGCCAGCAAGAACAG	0.353000													6	9					0	0	0.006214	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73185609	73185609	+	Missense_Mutation	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:73185609A>G	ENST00000286657.4	-	8	1210	c.1174T>C	c.(1174-1176)Tct>Cct	p.S392P		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	392	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACAAAAGCAGATGAAAAACCA	0.408000													5	27					0	0	0.021553	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432614	104432614	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr9:104432614G>T	ENST00000361820.3	-	3	2680	c.2080C>A	c.(2080-2082)Ctg>Atg	p.L694M		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	694					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CATTCATACAGAGTGAGGAAG	0.483000													50	89					9.40368e-32	1.33822e-31	0.014410	1	0
SLC8A3	6547	broad.mit.edu	37	14	70633711	70633711	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr14:70633711C>A	ENST00000381269.2	-	2	2182	c.1429G>T	c.(1429-1431)Gat>Tat	p.D477Y	SLC8A3_ENST00000357887.3_Missense_Mutation_p.D477Y|SLC8A3_ENST00000528359.1_Missense_Mutation_p.D477Y|SLC8A3_ENST00000356921.2_Missense_Mutation_p.D477Y|SLC8A3_ENST00000534137.1_Missense_Mutation_p.D477Y	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	477	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AAGTGTTCATCCTCCTCAAAA	0.517000													63	167					3.13296e-38	4.59088e-38	0.014410	1	0
ZNF683	257101	broad.mit.edu	37	1	26691246	26691246	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:26691246C>A	ENST00000436292.1	-	4	911	c.791G>T	c.(790-792)gGc>gTc	p.G264V	ZNF683_ENST00000403843.1_Missense_Mutation_p.G264V|ZNF683_ENST00000374204.1_Missense_Mutation_p.G264V|ZNF683_ENST00000349618.3_Missense_Mutation_p.G264V			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CAGAGCTTGGCCAGAGGCTTG	0.647000													11	42					9.70103e-10	1.17204e-09	0.008291	1	0
SNRPB	6628	broad.mit.edu	37	20	2448373	2448373	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:2448373T>C	ENST00000381342.2	-	2	197	c.35A>G	c.(34-36)cAt>cGt	p.H12R	SNRPB_ENST00000438552.2_Missense_Mutation_p.H12R|SNRPB_ENST00000339610.6_5'UTR|RP4-734P14.4_ENST00000461548.1_Silent_p.A112A	NM_003091.3	NP_003082.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	12					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						GTAATCAATATGCTGCAGCAT	0.517000													29	36					0	0	0.009535	0	0
MUC17	140453	broad.mit.edu	37	7	100680373	100680373	+	Silent	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:100680373T>A	ENST00000306151.4	+	3	5740	c.5676T>A	c.(5674-5676)gcT>gcA	p.A1892A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1892	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTCCCGCTGTCACCAGCA	0.512000													119	268					0	0	0.014410	0	0
BVES	11149	broad.mit.edu	37	6	105564592	105564592	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:105564592G>T	ENST00000314641.5	-	6	1016	c.800C>A	c.(799-801)cCc>cAc	p.P267H	BVES_ENST00000446408.2_Missense_Mutation_p.P267H|BVES_ENST00000336775.5_Missense_Mutation_p.P267H	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	267					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				ATTTAAGGTGGGATCATTCAA	0.274000													13	30					4.3838e-07	5.04905e-07	0.016723	1	0
VPS51	738	broad.mit.edu	37	11	64875837	64875837	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:64875837C>T	ENST00000279281.3	+	5	986	c.894C>T	c.(892-894)ccC>ccT	p.P298P	VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)																		CTCCGGCTCCCGACGTGTTAG	0.701000													4	34					0	0	0.029380	0	0
GPM6A	2823	broad.mit.edu	37	4	176572989	176572989	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:176572989C>A	ENST00000280187.7	-	5	582	c.537G>T	c.(535-537)caG>caT	p.Q179H	GPM6A_ENST00000515090.1_Missense_Mutation_p.Q172H|GPM6A_ENST00000506894.1_Missense_Mutation_p.Q168H|GPM6A_ENST00000393658.2_Missense_Mutation_p.Q179H	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	179						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ACTTACCAAACTGACGAAGGT	0.413000													36	56					2.75727e-19	3.74382e-19	0.021022	1	0
OR6F1	343169	broad.mit.edu	37	1	247875899	247875899	+	Missense_Mutation	SNP	A	A	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:247875899A>T	ENST00000302084.2	-	1	206	c.159T>A	c.(157-159)caT>caA	p.H53Q	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TATGCAACTGATGGGAGGTGC	0.478000													41	82					0	0	0.030466	0	0
DSPP	1834	broad.mit.edu	37	4	88533832	88533832	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:88533832G>T	ENST00000399271.1	+	4	614	c.494G>T	c.(493-495)gGg>gTg	p.G165V	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.G165V	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	165					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		ACCCAAAATGGGGATGTTGGC	0.443000													11	26					1.58986e-06	1.80306e-06	0.008291	1	0
CLCN1	1180	broad.mit.edu	37	7	143048757	143048757	+	Missense_Mutation	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:143048757A>G	ENST00000343257.2	+	23	2753	c.2666A>G	c.(2665-2667)aAc>aGc	p.N889S		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	889					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AGCTTCCGGAACACGACTTCA	0.592000													14	37					0	0	0.016723	0	0
ERCC6	2074	broad.mit.edu	37	10	50708677	50708677	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr10:50708677C>G	ENST00000355832.5	-	7	1670	c.1592G>C	c.(1591-1593)gGa>gCa	p.G531A	ERCC6_ENST00000542458.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	531	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CATTTCATCTCCCAGAATTCC	0.478000								Direct reversal of damage;Nucleotide excision repair (NER)					21	42					0	0	0.012319	0	0
FANCM	57697	broad.mit.edu	37	14	45658096	45658096	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr14:45658096G>T	ENST00000267430.5	+	20	4956	c.4871G>T	c.(4870-4872)tGt>tTt	p.C1624F	FANCM_ENST00000542564.2_Missense_Mutation_p.C1598F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1624					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAAGAAGTTTGTGTTGATTTT	0.318000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				25	55					9.57634e-11	1.18108e-10	0.018920	1	0
SYT10	341359	broad.mit.edu	37	12	33529797	33529797	+	Missense_Mutation	SNP	A	A	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:33529797A>T	ENST00000228567.3	-	7	1836	c.1540T>A	c.(1540-1542)Tgc>Agc	p.C514S	SYT10_ENST00000535526.1_Missense_Mutation_p.C333S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	514						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GGAGAAGGGCAGGATCCTTGA	0.403000													24	62					0	0	0.021523	0	0
HGF	3082	broad.mit.edu	37	7	81336617	81336617	+	Missense_Mutation	SNP	A	A	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:81336617A>C	ENST00000222390.5	-	14	1831	c.1605T>G	c.(1603-1605)tgT>tgG	p.C535W	HGF_ENST00000457544.2_Missense_Mutation_p.C530W	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	535	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GAGAAGGGAAACACTGTCGTG	0.338000													13	25					0	0	0.016723	0	0
TNR	7143	broad.mit.edu	37	1	175365768	175365768	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:175365768C>G	ENST00000367674.1	-	5	1860	c.1152G>C	c.(1150-1152)gaG>gaC	p.E384D	TNR_ENST00000263525.2_Missense_Mutation_p.E384D	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	384	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTGGCTCCAGCTCCGTGATGG	0.587000													21	37					0	0	0.008871	0	0
GOLGA3	2802	broad.mit.edu	37	12	133372559	133372559	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:133372559T>A	ENST00000204726.3	-	11	2906	c.2348A>T	c.(2347-2349)cAg>cTg	p.Q783L	GOLGA3_ENST00000545875.1_Missense_Mutation_p.Q783L|GOLGA3_ENST00000537452.1_Missense_Mutation_p.Q783L|GOLGA3_ENST00000450791.2_Missense_Mutation_p.Q783L|GOLGA3_ENST00000456883.2_Missense_Mutation_p.Q783L	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	783					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTTGGCCGCCTGCAAAGCCGC	0.582000													11	87					0	0	0.010729	0	0
USP38	84640	broad.mit.edu	37	4	144106691	144106691	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:144106691G>T	ENST00000307017.4	+	1	594	c.88G>T	c.(88-90)Gag>Tag	p.E30*	USP38_ENST00000510377.1_Nonsense_Mutation_p.E30*	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	30					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GGAATCGGCGGAGCACTGGCT	0.642000													6	50					3.59834e-05	3.95951e-05	0.021553	1	0
SORBS1	10580	broad.mit.edu	37	10	97135812	97135812	+	Splice_Site	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr10:97135812C>T	ENST00000371247.2	-	19	1844	c.1653_splice	c.e19-1	p.S552_splice	SORBS1_ENST00000371246.2_Splice_Site_p.S574_splice|SORBS1_ENST00000353505.5_Splice_Site_p.S437_splice|SORBS1_ENST00000277982.5_Splice_Site_p.S574_splice|SORBS1_ENST00000361941.3_Splice_Site_p.S552_splice|SORBS1_ENST00000393949.1_Splice_Site_p.S522_splice|SORBS1_ENST00000371227.4_Splice_Site_p.S506_splice|SORBS1_ENST00000371245.3_Splice_Site_p.S437_splice|SORBS1_ENST00000347291.4_Splice_Site_p.S420_splice|SORBS1_ENST00000354106.3_Splice_Site_p.S522_splice|SORBS1_ENST00000607232.1_Splice_Site_p.S341_splice|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371239.1_Splice_Site_p.S351_splice|SORBS1_ENST00000306402.6_Intron			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	552					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TATATCCCGACTCTATAGGGG	0.388000													20	25					0	0	0.008871	0	0
LTBP3	4054	broad.mit.edu	37	11	65319748	65319748	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:65319748C>T	ENST00000301873.5	-	7	1584	c.1316G>A	c.(1315-1317)cGg>cAg	p.R439Q	LTBP3_ENST00000322147.4_Missense_Mutation_p.R439Q|LTBP3_ENST00000536982.1_Missense_Mutation_p.R65Q	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	439	TB 2.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GCGCTGACACCGCGCGCCCCA	0.642000											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	99					0	0	0.012319	0	0
BNC2	54796	broad.mit.edu	37	9	16429929	16429929	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr9:16429929T>C	ENST00000380666.2	-	7	2847	c.2708A>G	c.(2707-2709)aAg>aGg	p.K903R	BNC2_ENST00000380672.4_Intron|BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380667.2_Intron			Q6ZN30	BNC2_HUMAN	basonuclin 2	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CGAGGCTCACTTTAGGCTTGA	0.498000													3	9					0	0	0.009096	0	0
CD200R1	131450	broad.mit.edu	37	3	112648254	112648254	+	Silent	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:112648254C>A	ENST00000471858.1	-	3	466	c.234G>T	c.(232-234)ctG>ctT	p.L78L	CD200R1_ENST00000440122.2_Silent_p.L101L|CD200R1_ENST00000295863.4_Silent_p.L56L|CD200R1_ENST00000490004.1_Silent_p.L78L|CD200R1_ENST00000308611.3_Silent_p.L101L	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	78	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GCTGGCCTCTCAGGATTATTT	0.423000													15	64					2.35188e-11	2.92503e-11	0.006122	1	0
UGT2B4	7363	broad.mit.edu	37	4	70361289	70361289	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:70361289C>T	ENST00000305107.6	-	1	337	c.291G>A	c.(289-291)tgG>tgA	p.W97*	UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Nonsense_Mutation_p.W97*|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	97					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GAAGTTCTGCCCATCTCTTAA	0.343000													5	24					0	0	0.021553	0	0
CDH18	1016	broad.mit.edu	37	5	19571797	19571797	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:19571797G>A	ENST00000507958.1	-	10	2134	c.1144C>T	c.(1144-1146)Cta>Tta	p.L382L	CDH18_ENST00000506372.1_Silent_p.L382L|CDH18_ENST00000502796.1_Silent_p.L382L|CDH18_ENST00000511273.1_Silent_p.L382L|CDH18_ENST00000382275.1_Silent_p.L382L|CDH18_ENST00000274170.4_Silent_p.L382L			Q13634	CAD18_HUMAN	cadherin 18, type 2	382	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ATGGAAAATAGTGGTGGTTCA	0.428000													60	44					0	0	0.014410	0	0
DSTYK	25778	broad.mit.edu	37	1	205129335	205129335	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:205129335T>C	ENST00000367162.3	-	8	2042	c.2012A>G	c.(2011-2013)aAc>aGc	p.N671S	DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Missense_Mutation_p.N671S	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	671	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TCCTCCCCAGTTGTCACACAG	0.498000													43	104					0	0	0.036044	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	53					0	0	0.029380	0	0
OR6C70	390327	broad.mit.edu	37	12	55863743	55863743	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:55863743G>A	ENST00000327335.4	-	1	179	c.180C>T	c.(178-180)ttC>ttT	p.F60F	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						AATTACGGAGGAAGAAATACA	0.393000													16	33					0	0	0.033300	0	0
STAB2	55576	broad.mit.edu	37	12	104054517	104054517	+	Silent	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:104054517C>A	ENST00000388887.2	+	17	2049	c.1845C>A	c.(1843-1845)ctC>ctA	p.L615L		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	615	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCAACCAGCTCATACAGTTCA	0.453000													22	65					2.79863e-10	3.42312e-10	0.024334	1	0
NTRK2	4915	broad.mit.edu	37	9	87635146	87635146	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr9:87635146T>A	ENST00000376214.1	+	20	3136	c.2198T>A	c.(2197-2199)aTt>aAt	p.I733N	NTRK2_ENST00000323115.4_Missense_Mutation_p.I717N|NTRK2_ENST00000376213.1_Missense_Mutation_p.I717N|NTRK2_ENST00000277120.3_Missense_Mutation_p.I733N	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	717	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						ATGCTGCCCATTCGCTGGATG	0.582000										TSP Lung(25;0.17)			37	85					0	0	0.033182	0	0
RYR2	6262	broad.mit.edu	37	1	237880608	237880608	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:237880608G>T	ENST00000366574.2	+	72	10751	c.10434G>T	c.(10432-10434)ttG>ttT	p.L3478F	RYR2_ENST00000360064.6_Missense_Mutation_p.L3476F|RYR2_ENST00000542537.1_Missense_Mutation_p.L3462F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3478					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			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)			CCATTGGGTTGAACATCTGTG	0.493000													12	28					0.00010058	0.000109455	0.013537	1	0
CDH12	1010	broad.mit.edu	37	5	21783553	21783553	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:21783553C>A	ENST00000382254.1	-	11	2393	c.1307G>T	c.(1306-1308)gGa>gTa	p.G436V	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.G436V|CDH12_ENST00000522262.1_Missense_Mutation_p.G396V	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	436	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCCTTCATTTCCATCTATTGT	0.368000										HNSCC(59;0.17)			54	196					7.50695e-29	1.05311e-28	0.014410	1	0
L3MBTL1	26013	broad.mit.edu	37	20	42158990	42158990	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:42158990G>A	ENST00000444063.1	+	7	985	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	L3MBTL1_ENST00000418998.1_Missense_Mutation_p.A353T|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.A353T|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.A285T|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.A285T			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	285					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CTGGGTCAATGCCAACTCCCC	0.562000													20	77					0	0	0.007413	0	0
UNC79	57578	broad.mit.edu	37	14	94079309	94079309	+	Silent	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr14:94079309G>T	ENST00000553484.1	+	28	4141	c.3987G>T	c.(3985-3987)acG>acT	p.T1329T	UNC79_ENST00000555664.1_Silent_p.T1307T|UNC79_ENST00000256339.4_Silent_p.T1130T|UNC79_ENST00000393151.2_Silent_p.T1307T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1307						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCTTCAACACGGTCAAGCGAC	0.488000													14	53					3.27435e-08	3.84606e-08	0.020292	1	0
MTUS2	23281	broad.mit.edu	37	13	29608081	29608081	+	Silent	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr13:29608081C>G	ENST00000431530.3	+	2	2353	c.2295C>G	c.(2293-2295)gtC>gtG	p.V765V		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	755	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ATTATGAAGTCCCTCCAACTT	0.443000													10	24					0	0	0.006214	0	0
BCORL1	63035	broad.mit.edu	37	X	129155080	129155080	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:129155080C>A	ENST00000540052.1	+	4	3606	c.3562C>A	c.(3562-3564)Ccg>Acg	p.P1188T	BCORL1_ENST00000359304.2_Missense_Mutation_p.P1188T|BCORL1_ENST00000218147.7_Missense_Mutation_p.P1188T|BCORL1_ENST00000303743.5_Missense_Mutation_p.P1188T	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1188					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCCGACAAAGCCGGAGTCCCA	0.632000													26	29					1.17739e-12	1.48301e-12	0.027356	1	0
MYO18A	399687	broad.mit.edu	37	17	27448136	27448136	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr17:27448136G>A	ENST00000527372.1	-	6	1645	c.1465C>T	c.(1465-1467)Cgt>Tgt	p.R489C	MYO18A_ENST00000533112.1_Missense_Mutation_p.R489C|MYO18A_ENST00000531253.1_Missense_Mutation_p.R489C|MYO18A_ENST00000354329.4_Missense_Mutation_p.R489C	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	489	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGATCCTGACGGCTCATCAGC	0.602000													4	11					0	0	0.009096	0	0
TMEM132D	121256	broad.mit.edu	37	12	129569124	129569124	+	Silent	SNP	G	G	T	rs144267550		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:129569124G>T	ENST00000422113.2	-	6	1893	c.1567C>A	c.(1567-1569)Cgg>Agg	p.R523R	TMEM132D_ENST00000389441.4_Silent_p.R61R	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	523						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGCGGAAGCCGGGGCACCCAC	0.567000													14	32					6.53275e-17	8.71034e-17	0.020292	1	0
OR6F1	343169	broad.mit.edu	37	1	247875544	247875544	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:247875544G>C	ENST00000302084.2	-	1	561	c.514C>G	c.(514-516)Cgt>Ggt	p.R172G	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTGATGGCACGGGGGCCACAG	0.597000													41	74					0	0	0.010771	0	0
MYO3A	53904	broad.mit.edu	37	10	26446298	26446298	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr10:26446298C>T	ENST00000265944.5	+	26	3019	c.2853C>T	c.(2851-2853)tgC>tgT	p.C951C	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	951	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTGTCCGTTGCATCAAACCAA	0.388000													22	49					0	0	0.018920	0	0
OGT	8473	broad.mit.edu	37	X	70779444	70779444	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:70779444T>A	ENST00000373719.3	+	14	1985	c.1768T>A	c.(1768-1770)Tgt>Agt	p.C590S	OGT_ENST00000373701.3_Missense_Mutation_p.C580S	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	590					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TCAGGTGTTCTGTTATGCCCT	0.433000													15	23					0	0	0.020292	0	0
TLDC1	57707	broad.mit.edu	37	16	84513594	84513594	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:84513594C>A	ENST00000343629.6	-	8	1478	c.1296G>T	c.(1294-1296)gaG>gaT	p.E432D	TLDC1_ENST00000535580.1_Missense_Mutation_p.E405D	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		GGGCCTGGGCCTCAGGGTCCG	0.617000													11	17					1.5842e-08	1.87569e-08	0.016723	1	0
SMAD1	4086	broad.mit.edu	37	4	146463737	146463737	+	Missense_Mutation	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:146463737A>G	ENST00000515385.1	+	4	1204	c.662A>G	c.(661-663)gAt>gGt	p.D221G	SMAD1_ENST00000302085.4_Missense_Mutation_p.D221G|SMAD1_ENST00000394092.2_Missense_Mutation_p.D221G			Q15797	SMAD1_HUMAN	SMAD family member 1	221					BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					TTTGTAGCTGATACGCCCCCA	0.468000													16	65					0	0	0.028581	0	0
PEG3	5178	broad.mit.edu	37	19	57326368	57326368	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:57326368G>A	ENST00000326441.9	-	10	3805	c.3442C>T	c.(3442-3444)Cat>Tat	p.H1148Y	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.H1024Y|PEG3_ENST00000423103.2_Missense_Mutation_p.H1148Y|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.H1022Y|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1148					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTGATGGAATGGGTGTGAATT	0.468000													47	69					0	0	0.014410	0	0
GPR20	2843	broad.mit.edu	37	8	142367203	142367203	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:142367203G>A	ENST00000377741.3	-	2	911	c.821C>T	c.(820-822)aCg>aTg	p.T274M		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	274						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CACGAGGCTCGTGTGGTGTGG	0.637000													28	187					0	0	0.034045	0	0
ATP8B3	148229	broad.mit.edu	37	19	1791815	1791815	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:1791815G>A	ENST00000539485.1	-	20	2499	c.2266C>T	c.(2266-2268)Cct>Tct	p.P756S	ATP8B3_ENST00000525591.1_Missense_Mutation_p.P709S|ATP8B3_ENST00000310127.6_Missense_Mutation_p.P746S			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	746					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGTTTCAGGGACACCGTCC	0.622000													14	12					0	0	0.020292	0	0
NLGN3	54413	broad.mit.edu	37	X	70389453	70389453	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:70389453G>T	ENST00000374051.3	+	7	2315	c.1993G>T	c.(1993-1995)Ggg>Tgg	p.G665W	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.G645W|NLGN3_ENST00000358741.3_Missense_Mutation_p.G685W	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	685					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GAATGCCCAGGGGTCCTGGAA	0.622000													31	20					4.3181e-19	5.83633e-19	0.013726	1	0
RELN	5649	broad.mit.edu	37	7	103301870	103301870	+	Missense_Mutation	SNP	G	G	T	rs111409626		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:103301870G>T	ENST00000424685.2	-	12	1553	c.1394C>A	c.(1393-1395)tCc>tAc	p.S465Y	RELN_ENST00000343529.5_Missense_Mutation_p.S465Y|RELN_ENST00000428762.1_Missense_Mutation_p.S465Y			P78509	RELN_HUMAN	reelin	465					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGTGTCCATGGATGGAGTGCA	0.448000													6	45					0.00198382	0.00211989	0.029380	1	0
RUNX1T1	862	broad.mit.edu	37	8	92998504	92998504	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:92998504G>T	ENST00000523629.1	-	9	1581	c.1127C>A	c.(1126-1128)aCc>aAc	p.T376N	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.T376N|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.T339N|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.T349N|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.T387N|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.T339N|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.T349N|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.T339N	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	376	Important for oligomerization.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CCTTAGTACGGTGAGAGATCG	0.453000													42	378					1.41504e-22	1.94814e-22	0.011902	1	0
PLCG2	5336	broad.mit.edu	37	16	81904518	81904518	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:81904518T>A	ENST00000359376.3	+	7	840	c.626T>A	c.(625-627)cTt>cAt	p.L209H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	209					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TATAAAAAACTTATGTTTGAA	0.348000													7	18					0	0	0.003080	0	0
SLC24A2	25769	broad.mit.edu	37	9	19577011	19577011	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr9:19577011C>A	ENST00000341998.2	-	5	1200	c.1139G>T	c.(1138-1140)aGa>aTa	p.R380I	SLC24A2_ENST00000286344.3_Missense_Mutation_p.R363I	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	380					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AGCCTTTTCTCTGAACCTCCC	0.517000													27	57					3.80469e-20	5.21384e-20	0.009535	1	0
STK26	51765	broad.mit.edu	37	X	131197496	131197496	+	Silent	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:131197496C>A	ENST00000394334.2	+	4	562	c.309C>A	c.(307-309)ggC>ggA	p.G103G	MST4_ENST00000394335.2_Silent_p.G26G|MST4_ENST00000354719.6_Silent_p.G103G|MST4_ENST00000481105.1_Silent_p.G125G|MST4_ENST00000496850.1_Silent_p.G103G	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		103	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AATACCTGGGCGGTGGTTCAG	0.318000													52	65					1.73933e-33	2.48716e-33	0.014410	1	0
SLITRK2	84631	broad.mit.edu	37	X	144905434	144905434	+	Silent	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:144905434C>A	ENST00000370490.1	+	1	5746	c.1491C>A	c.(1489-1491)acC>acA	p.T497T	SLITRK2_ENST00000413937.2_Silent_p.T497T|SLITRK2_ENST00000447897.2_Silent_p.T497T|SLITRK2_ENST00000434188.2_Silent_p.T497T|SLITRK2_ENST00000428560.2_Silent_p.T497T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	497						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CGGCCCTAACCAGGCTGAATC	0.478000													48	157					8.86878e-18	1.18786e-17	0.014410	1	0
TSGA10	80705	broad.mit.edu	37	2	99685410	99685410	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:99685410G>C	ENST00000393483.3	-	15	2003	c.1159C>G	c.(1159-1161)Cag>Gag	p.Q387E	TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.Q387E|TSGA10_ENST00000410001.1_Missense_Mutation_p.Q387E|TSGA10_ENST00000355053.4_Missense_Mutation_p.Q387E	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	387					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TGAACCTTCTGTTTTATGTCA	0.264000													19	41					0	0	0.016522	0	0
CLINT1	9685	broad.mit.edu	37	5	157216486	157216486	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:157216486G>A	ENST00000523094.1	-	11	1621	c.1416C>T	c.(1414-1416)acC>acT	p.T472T	CLINT1_ENST00000523908.1_Silent_p.T490T|CLINT1_ENST00000530742.1_Silent_p.T472T|CLINT1_ENST00000411809.2_Silent_p.T472T|CLINT1_ENST00000296951.5_Silent_p.T472T	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	472					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAGAGGGCAAGGTTTTGCTGA	0.448000													35	100					0	0	0.027894	0	0
TFAP2A	7020	broad.mit.edu	37	6	10402725	10402725	+	Splice_Site	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:10402725C>A	ENST00000379613.3	-	5	1145	c.889_splice	c.e5+1	p.G297_splice	TFAP2A_ENST00000319516.4_Splice_Site_p.G291_splice|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000482890.1_Splice_Site_p.G295_splice|TFAP2A_ENST00000379608.3_Splice_Site_p.G289_splice|TFAP2A_ENST00000379604.2_Splice_Site_p.G295_splice			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	295	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				ATTCGCTTACCCTCTACTAGT	0.418000													17	49					8.34094e-07	9.5325e-07	0.008871	1	0
GALNT2	2590	broad.mit.edu	37	1	230339028	230339028	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:230339028G>A	ENST00000366672.4	+	3	438	c.366G>A	c.(364-366)cgG>cgA	p.R122R	GALNT2_ENST00000543760.1_Silent_p.R84R|GALNT2_ENST00000541865.1_Silent_p.R32R	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	122					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CTGACACCCGGCATGACCAGT	0.537000													4	124					0	0	0.014758	0	0
HCK	3055	broad.mit.edu	37	20	30674477	30674477	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:30674477A>G	ENST00000534862.1	+	10	1185	c.822A>G	c.(820-822)ccA>ccG	p.P274P	HCK_ENST00000520553.1_Silent_p.P273P|HCK_ENST00000538448.1_Silent_p.P273P|HCK_ENST00000375862.2_Silent_p.P293P|HCK_ENST00000518730.1_Silent_p.P272P|HCK_ENST00000375852.2_Silent_p.P294P	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	294	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CGATGAAGCCAGGGAGCATGT	0.577000													4	28					0	0	0.014758	0	0
RAB40A	142684	broad.mit.edu	37	X	102755508	102755508	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:102755508G>A	ENST00000372633.1	-	1	2295	c.177C>T	c.(175-177)gaC>gaT	p.D59D	RAB40A_ENST00000304236.1_Silent_p.D59D			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	59					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						CCCGCTGGCCGTCCAGCAGGA	0.587000													21	173					0	0	0.034045	0	0
USP51	158880	broad.mit.edu	37	X	55513730	55513730	+	Nonsense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:55513730G>C	ENST00000500968.3	-	2	1725	c.1643C>G	c.(1642-1644)tCa>tGa	p.S548*	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	548					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GTCTGTAAGTGAGGGGATTCC	0.498000													15	10					0	0	0.020292	0	0
LAMA5	3911	broad.mit.edu	37	20	60884853	60884853	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:60884853C>T	ENST00000252999.3	-	79	10933	c.10867G>A	c.(10867-10869)Gcg>Acg	p.A3623T		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3623	Laminin G-like 5.				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			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)	TTGCTCTGCGCGTCCACCTCC	0.667000													10	26					0	0	0.010729	0	0
CACNA1E	777	broad.mit.edu	37	1	181735735	181735735	+	Silent	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:181735735C>A	ENST00000526775.1	+	34	4977	c.4812C>A	c.(4810-4812)atC>atA	p.I1604I	CACNA1E_ENST00000360108.3_Silent_p.I1604I|CACNA1E_ENST00000367570.1_Silent_p.I1623I|CACNA1E_ENST00000367573.2_Silent_p.I1623I|CACNA1E_ENST00000367567.4_Silent_p.I1230I|CACNA1E_ENST00000357570.5_Silent_p.I1574I|CACNA1E_ENST00000358338.5_Silent_p.I1555I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1623					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTTATGCCATCATTGGGATGC	0.473000													9	23					0.00448238	0.0047555	0.004482	1	0
KRTAP10-11	386678	broad.mit.edu	37	21	46067232	46067232	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr21:46067232C>A	ENST00000334670.8	+	1	902	c.857C>A	c.(856-858)gCc>gAc	p.A286D	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	280						keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						TCCCGCCTGGCCTGCTACAGC	0.642000													11	34					1.36491e-13	1.74898e-13	0.016723	1	0
GABRB3	2562	broad.mit.edu	37	15	27017582	27017582	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:27017582G>A	ENST00000541819.2	-	4	477	c.375C>T	c.(373-375)atC>atT	p.I125I	GABRB3_ENST00000311550.5_Silent_p.I69I|GABRB3_ENST00000299267.4_Silent_p.I69I|GABRB3_ENST00000557641.1_5'UTR			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	69					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			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CGATGCTGGCGATGTCGATGT	0.692000													9	7					0	0	0.008291	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369859	86369859	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr13:86369859T>C	ENST00000400286.2	-	2	1383	c.785A>G	c.(784-786)aAg>aGg	p.K262R		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	262	LRRCT 1.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AGATTCCTTCTTTAGTCTACT	0.398000													22	28					0	0	0.012319	0	0
ASTN1	460	broad.mit.edu	37	1	176915135	176915135	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:176915135C>T	ENST00000367654.2	-	13	2213	c.2200G>A	c.(2200-2202)Ggg>Agg	p.G734R	ASTN1_ENST00000367657.3_Missense_Mutation_p.G726R|ASTN1_ENST00000424564.2_Missense_Mutation_p.G726R|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.G726R			O14525	ASTN1_HUMAN	astrotactin 1	734					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AACATCTCCCCAAAGAGGGTC	0.502000													36	103					0	0	0.019004	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650019	75650019	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:75650019C>G	ENST00000361470.2	+	1	1974	c.1696C>G	c.(1696-1698)Cct>Gct	p.P566A		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	566	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CAAACTGGGACCTGTGCCCTT	0.488000													15	20					0	0	0.020292	0	0
KMT2C	58508	broad.mit.edu	37	7	151962209	151962209	+	Nonsense_Mutation	SNP	A	A	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:151962209A>C	ENST00000355193.2	-	8	1316	c.1098T>G	c.(1096-1098)taT>taG	p.Y366*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Y366*					lysine (K)-specific methyltransferase 2C																		ACATTCCATGATAGTGCTGAC	0.448000													5	292					0	0	0.004482	0	0
DNM1P46	196968	broad.mit.edu	37	15	100340242	100340242	+	RNA	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:100340242T>C	ENST00000341853.1	-	0	684					NR_003260.1																						GAGTGTCTATTTCTTCCCACG	0.632000													4	10					0	0	0.009096	0	0
CDH5	1003	broad.mit.edu	37	16	66423424	66423424	+	Splice_Site	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:66423424G>T	ENST00000341529.3	+	5	928	c.781_splice	c.e5+1	p.Q260_splice	CDH5_ENST00000563425.2_Splice_Site_p.Q260_splice	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	260	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		TCTTCACCCAGAGTGAGCCCC	0.602000													31	38					1.62565e-12	2.03034e-12	0.012213	1	0
DCHS1	8642	broad.mit.edu	37	11	6648021	6648021	+	Splice_Site	SNP	T	T	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:6648021T>G	ENST00000299441.3	-	14	6660	c.6250_splice	c.e14+1	p.P2083_splice		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2083	Cadherin 20.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGACCCACCTGGGGGCGCAT	0.582000													11	17					0	0	0.008291	0	0
DOCK2	1794	broad.mit.edu	37	5	169454937	169454937	+	Missense_Mutation	SNP	A	A	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:169454937A>T	ENST00000256935.8	+	34	3532	c.3452A>T	c.(3451-3453)cAg>cTg	p.Q1151L	DOCK2_ENST00000540750.1_Missense_Mutation_p.Q212L|DOCK2_ENST00000520908.1_Missense_Mutation_p.Q643L|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1151	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGTACATGCAGCTCCTGGAG	0.537000													15	57					0	0	0.028581	0	0
PCLO	27445	broad.mit.edu	37	7	82476456	82476456	+	Splice_Site	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:82476456G>A	ENST00000423517.2	-	11	14099	c.13763_splice	c.e11+1	p.L4588_splice	PCLO_ENST00000426442.2_Intron|PCLO_ENST00000333891.8_Splice_Site_p.L4588_splice	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4476	C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAAACTCACAGTCTTACACAT	0.353000													3	13					0	0	0.009096	0	0
FGD6	55785	broad.mit.edu	37	12	95546736	95546736	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:95546736G>C	ENST00000343958.4	-	4	2843	c.2620C>G	c.(2620-2622)Cat>Gat	p.H874D	FGD6_ENST00000546711.1_Missense_Mutation_p.H874D|FGD6_ENST00000549499.1_Missense_Mutation_p.H874D	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	874	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTGGCAATATGATGAACTTTA	0.343000													4	66					0	0	0.009096	0	0
GGN	199720	broad.mit.edu	37	19	38876800	38876800	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:38876800C>T	ENST00000334928.6	-	3	1234	c.1102G>A	c.(1102-1104)Ggg>Agg	p.G368R	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	368	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGCCAGCCCCGTTGAAGCGG	0.697000													5	5					0	0	0.021553	0	0
OR8I2	120586	broad.mit.edu	37	11	55861088	55861088	+	Missense_Mutation	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:55861088A>G	ENST00000302124.2	+	1	336	c.305A>G	c.(304-306)tAc>tGc	p.Y102C	OR8I2_ENST00000560768.1_Missense_Mutation_p.Y102C			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GTTCAAATGTACTTTTTTGTT	0.403000													50	107					0	0	0.014410	0	0
ZNF512B	57473	broad.mit.edu	37	20	62594447	62594447	+	Splice_Site	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:62594447C>A	ENST00000450537.1	-	12	2029		c.e12+1		ZNF512B_ENST00000217130.3_Splice_Site|ZNF512B_ENST00000369888.1_Splice_Site			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GAGCCACTCACGGGGGCCGTG	0.617000													4	6					0.00024832	0.000268258	0.009096	1	0
FAM135B	51059	broad.mit.edu	37	8	139380162	139380162	+	Missense_Mutation	SNP	A	A	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:139380162A>C	ENST00000395297.1	-	2	235	c.65T>G	c.(64-66)cTc>cGc	p.L22R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	22										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCTCTGAAAGAGATCCACATT	0.398000										HNSCC(54;0.14)			40	192					0	0	0.033182	0	0
CCDC60	160777	broad.mit.edu	37	12	119968728	119968728	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:119968728C>A	ENST00000327554.2	+	13	1876	c.1411C>A	c.(1411-1413)Ccc>Acc	p.P471T	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	471										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GAACTTCCGCCCCGCCAAAAA	0.488000													44	63					1.62263e-30	2.28713e-30	0.014410	1	0
IQSEC3	440073	broad.mit.edu	37	12	283906	283906	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:283906C>G	ENST00000538872.1	+	14	3374	c.3256C>G	c.(3256-3258)Ccc>Gcc	p.P1086A	IQSEC3_ENST00000326261.4_Missense_Mutation_p.P1086A|IQSEC3_ENST00000537151.1_3'UTR|RP11-598F7.6_ENST00000537295.1_lincRNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1086	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GCCACCCACGCCCCCGGGCAC	0.721000													5	16					0	0	0.021553	0	0
COL11A1	1301	broad.mit.edu	37	1	103455108	103455108	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:103455108C>A	ENST00000358392.2	-	29	2713	c.2396G>T	c.(2395-2397)gGa>gTa	p.G799V	COL11A1_ENST00000353414.4_Missense_Mutation_p.G748V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G787V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G671V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	787	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTTGAATCCTGGAAAACC	0.289000													12	22					2.62699e-14	3.39558e-14	0.024245	1	0
SRMS	6725	broad.mit.edu	37	20	62172566	62172566	+	Silent	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:62172566G>C	ENST00000217188.1	-	7	1303	c.1263C>G	c.(1261-1263)acC>acG	p.T421T		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	421	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			ACTGGCCATAGGTGAAAACCT	0.632000													18	184					0	0	0.006122	0	0
NALCN	259232	broad.mit.edu	37	13	101881875	101881875	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr13:101881875T>C	ENST00000251127.6	-	13	1576	c.1495A>G	c.(1495-1497)Ata>Gta	p.I499V	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.I499V	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	499						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGACCAAATATCTTGTACACA	0.388000													109	48					0	0	0.014410	0	0
OR10K1	391109	broad.mit.edu	37	1	158436005	158436005	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:158436005C>T	ENST00000289451.2	+	1	734	c.654C>T	c.(652-654)taC>taT	p.Y218Y		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TAGTCTCCTACATCCGCATCA	0.468000													27	99					0	0	0.021523	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	55					0	0	0.014758	0	0
COL11A1	1301	broad.mit.edu	37	1	103481288	103481288	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:103481288C>G	ENST00000358392.2	-	12	1777	c.1460G>C	c.(1459-1461)gGa>gCa	p.G487A	COL11A1_ENST00000353414.4_Missense_Mutation_p.G436A|COL11A1_ENST00000370096.3_Missense_Mutation_p.G475A|COL11A1_ENST00000512756.1_Missense_Mutation_p.G359A	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	475	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCAGGACGTCCTGGGGGGCC	0.348000													10	11					0	0	0.006214	0	0
SYNE1	23345	broad.mit.edu	37	6	152577782	152577782	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:152577782T>C	ENST00000367255.5	-	102	19692	c.19091A>G	c.(19090-19092)gAg>gGg	p.E6364G	SYNE1_ENST00000265368.4_Missense_Mutation_p.E6364G|SYNE1_ENST00000356820.4_Missense_Mutation_p.E888G|SYNE1_ENST00000423061.1_Missense_Mutation_p.E6293G|SYNE1_ENST00000448038.1_Missense_Mutation_p.E6293G|SYNE1_ENST00000341594.5_Missense_Mutation_p.E5976G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6364					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGATGAAACCTCCTCGAAGGC	0.468000										HNSCC(10;0.0054)			9	41					0	0	0.004482	0	0
WHSC1	7468	broad.mit.edu	37	4	1918692	1918692	+	Missense_Mutation	SNP	A	A	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:1918692A>C	ENST00000503128.1	+	4	1062	c.855A>C	c.(853-855)gaA>gaC	p.E285D	WHSC1_ENST00000508803.1_Missense_Mutation_p.E285D|WHSC1_ENST00000420906.2_Missense_Mutation_p.E285D|WHSC1_ENST00000382891.5_Missense_Mutation_p.E285D|WHSC1_ENST00000382892.2_Missense_Mutation_p.E285D|WHSC1_ENST00000382895.3_Missense_Mutation_p.E285D|WHSC1_ENST00000398261.1_Missense_Mutation_p.E285D|WHSC1_ENST00000514045.1_Missense_Mutation_p.E285D			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	285	PWWP 1.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TAGCTTTTGAAGGAGAAGGAC	0.443000			T	IGH@	MM								18	35					0	0	0.006122	0	0
TBCE	6905	broad.mit.edu	37	1	235599075	235599075	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:235599075C>T	ENST00000543662.1	+	10	1012	c.906C>T	c.(904-906)ctC>ctT	p.L302L	TBCE_ENST00000366601.3_Silent_p.L251L|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Silent_p.L251L			Q15813	TBCE_HUMAN	tubulin folding cofactor E	251					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			CAGATGTTCTCCAGACAGTCA	0.368000													36	90					0	0	0.019004	0	0
KIFC1	3833	broad.mit.edu	37	6	33371649	33371649	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:33371649C>A	ENST00000428849.2	+	6	949	c.499C>A	c.(499-501)Ctt>Att	p.L167I		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	167					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GAACCAGCAGCTTCAGGACCA	0.557000													10	107					0.00829132	0.00876511	0.008291	1	0
EFHB	151651	broad.mit.edu	37	3	19962031	19962031	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:19962031C>G	ENST00000295824.9	-	2	979	c.818G>C	c.(817-819)aGa>aCa	p.R273T	EFHB_ENST00000344838.4_Missense_Mutation_p.R143T|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	273					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						GGTTGCAACTCTGTAACCAAC	0.378000													12	36					0	0	0.013537	0	0
DNAH8	1769	broad.mit.edu	37	6	38702281	38702281	+	Translation_Start_Site	SNP	A	A	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:38702281A>T	ENST00000359357.3	+	0	245				DNAH8_ENST00000449981.2_Missense_Mutation_p.K214N					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAGCAACTAAAGGGGCAAAAA	0.363000													36	61					0	0	0.023175	0	0
ZNF831	128611	broad.mit.edu	37	20	57782054	57782054	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:57782054G>A	ENST00000371030.2	+	3	3970	c.3970G>A	c.(3970-3972)Gca>Aca	p.A1324T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1324						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCACCCTCCCGCACTTGAGGG	0.552000													5	153					0	0	0.014758	0	0
TTC18	118491	broad.mit.edu	37	10	75037043	75037043	+	Silent	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr10:75037043G>T	ENST00000310715.3	-	22	2805	c.2685C>A	c.(2683-2685)atC>atA	p.I895I	TTC18_ENST00000355577.3_Silent_p.I364I|TTC18_ENST00000394865.1_Silent_p.I895I|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000401621.2_Silent_p.I895I	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	895							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TCTCCATGAAGATGGTGGTAG	0.378000													33	41					1.26612e-14	1.65828e-14	0.015359	1	0
GREB1	9687	broad.mit.edu	37	2	11733209	11733209	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:11733209C>T	ENST00000381486.2	+	11	1953	c.1653C>T	c.(1651-1653)tgC>tgT	p.C551C	GREB1_ENST00000234142.5_Silent_p.C551C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	551						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCATCATCTGCGCCTGCCGCA	0.662000													8	17					0	0	0.006214	0	0
EFCAB12	90288	broad.mit.edu	37	3	129140321	129140321	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:129140321C>A	ENST00000505956.1	-	2	537	c.375G>T	c.(373-375)tgG>tgT	p.W125C	EFCAB12_ENST00000326085.3_Missense_Mutation_p.W125C	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		TGTTCTCCAGCCACCTCTTTA	0.562000													16	50					5.01169e-05	5.4943e-05	0.033300	1	0
CDK10	8558	broad.mit.edu	37	16	89761706	89761706	+	Missense_Mutation	SNP	C	C	T	rs151021544		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:89761706C>T	ENST00000331006.8	+	11	2538	c.797C>T	c.(796-798)aCg>aTg	p.T266M	CDK10_ENST00000353379.7_Missense_Mutation_p.T313M|CDK10_ENST00000505473.1_Missense_Mutation_p.T242M			Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	313	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		TCCAGGGCGACGGCCGGGGAC	0.607000													15	72					0	0	0.007413	0	0
TTC29	83894	broad.mit.edu	37	4	147796034	147796034	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:147796034C>T	ENST00000513335.1	-	8	910	c.711G>A	c.(709-711)ttG>ttA	p.L237L	TTC29_ENST00000398886.4_Silent_p.L237L|TTC29_ENST00000325106.4_Silent_p.L211L			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	211							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCCCCTGTGTCAATTGATGGA	0.458000													4	30					0	0	0.021553	0	0
PKD1L1	168507	broad.mit.edu	37	7	47970761	47970761	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:47970761T>A	ENST00000289672.2	-	6	727	c.677A>T	c.(676-678)cAg>cTg	p.Q226L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	226					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGAGCTGGTCTGAGTGGGTCT	0.607000													18	43					0	0	0.016522	0	0
LYVE1	10894	broad.mit.edu	37	11	10580717	10580717	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:10580717G>T	ENST00000256178.3	-	6	1068	c.910C>A	c.(910-912)Cca>Aca	p.P304T	MRVI1-AS1_ENST00000529979.1_RNA|MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000529598.1_Missense_Mutation_p.P200T	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	304					anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		GACTCTTCTGGGTTTTTATCA	0.433000													43	105					1.62957e-23	2.25399e-23	0.033182	1	0
FAT4	79633	broad.mit.edu	37	4	126370496	126370496	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:126370496G>C	ENST00000394329.3	+	9	8338	c.8325G>C	c.(8323-8325)caG>caC	p.Q2775H	FAT4_ENST00000335110.5_Missense_Mutation_p.Q1073H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2775	Cadherin 27.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTTTTCTCAGATATTTAGTG	0.388000													46	81					0	0	0.014410	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090285	238090285	+	RNA	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:238090285C>A	ENST00000450451.1	+	0	1791					NR_027247.2																						CAGAAGGACTCCTACGTGGGC	0.602000													13	36					1.05317e-09	1.26723e-09	0.020292	1	0
SOCS5	9655	broad.mit.edu	37	2	46986926	46986926	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:46986926C>T	ENST00000306503.5	+	2	1429	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	SOCS5_ENST00000394861.2_Silent_p.F419F	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	419	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CTGTGAGCTTCCGCCGCTACA	0.517000													34	56					0	0	0.012213	0	0
TNRC18	84629	broad.mit.edu	37	7	5410417	5410417	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:5410417C>T	ENST00000399537.4	-	11	4156	c.3808G>A	c.(3808-3810)Gtg>Atg	p.V1270M	TNRC18_ENST00000430969.1_Missense_Mutation_p.V1270M			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1270							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCCTCCACCACGGGCACCGCC	0.701000													4	9					0	0	0.009096	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	by1000genomes	TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr17:45128742T>G	ENST00000575173.1	-	0	418																											TAATGATTTTTATTATACTTT	0.328000													3	47					0	0	0.009096	0	0
ZFHX3	463	broad.mit.edu	37	16	72993137	72993137	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:72993137T>C	ENST00000268489.5	-	2	1580	c.908A>G	c.(907-909)cAt>cGt	p.H303R	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	303					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCGATGGTCATGCACCGCGTG	0.502000													13	52					0	0	0.020292	0	0
IL9R	3581	broad.mit.edu	37	X	155233373	155233373	+	Missense_Mutation	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:155233373A>G	ENST00000424344.3	+	5	590	c.223A>G	c.(223-225)Atc>Gtc	p.I75V	IL9R_ENST00000369423.2_Silent_p.A140A|IL9R_ENST00000244174.5_Missense_Mutation_p.I96V|IL9R_ENST00000540897.1_Silent_p.A130A			Q01113	IL9R_HUMAN	interleukin 9 receptor	96					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACATAAGTGCATCTTGCGGGG	0.582000													15	11					0	0	0.028581	0	0
RPN1	6184	broad.mit.edu	37	3	128356934	128356934	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:128356934G>A	ENST00000296255.3	-	3	389	c.341C>T	c.(340-342)aCa>aTa	p.T114I	RPN1_ENST00000497289.1_5'UTR	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	114					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		GAGCTTGACTGTGAAGAATCT	0.443000			T	EVI1	AML								5	29					0	0	0.014758	0	0
VASH1	22846	broad.mit.edu	37	14	77242295	77242295	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr14:77242295C>A	ENST00000167106.4	+	5	1224	c.591C>A	c.(589-591)ttC>ttA	p.F197L	VASH1_ENST00000556038.1_3'UTR|RP11-488C13.6_ENST00000556368.1_RNA	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	197					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		AGACCTACTTCTCAGGGAACT	0.617000													4	11					0.00024832	0.000268258	0.009096	1	0
PCLO	27445	broad.mit.edu	37	7	82544659	82544659	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:82544659C>A	ENST00000423517.2	-	7	12980	c.12643G>T	c.(12643-12645)Gat>Tat	p.D4215Y	PCLO_ENST00000333891.8_Missense_Mutation_p.D4215Y|PCLO_ENST00000437081.1_Missense_Mutation_p.D935Y	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4146	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTGAATAATCAGGTTCAAGG	0.373000													13	26					0.00244969	0.00260831	0.020292	1	0
SLC7A13	157724	broad.mit.edu	37	8	87242275	87242275	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:87242275C>A	ENST00000297524.3	-	1	335	c.232G>T	c.(232-234)Gga>Tga	p.G78*	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Nonsense_Mutation_p.G78*	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	78						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TATTGAGCTCCACTGCATGGG	0.493000													111	43					9.69585e-32	1.37319e-31	0.014410	1	0
CXCL12	6387	broad.mit.edu	37	10	44871481	44871481	+	Splice_Site	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr10:44871481C>T	ENST00000374426.2	-	4	304		c.e4-1		CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395795.4_Intron	NM_001033886.2	NP_001029058.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12						blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	TCTGCGCCCCCTTAGATAAAA	0.373000													14	74					0	0	0.016723	0	0
NUP188	23511	broad.mit.edu	37	9	131711500	131711500	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr9:131711500G>T	ENST00000482796.1	+	2	127	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	NUP188_ENST00000550219.1_3'UTR|NUP188_ENST00000372577.2_Missense_Mutation_p.G22V																							ATTCTGCTTGGAAGGTCAGCT	0.408000													19	39					1.10513e-12	1.39795e-12	0.014323	1	0
SH2B2	10603	broad.mit.edu	37	7	101957824	101957824	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:101957824G>A	ENST00000536178.1	+	8	1513	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K	SH2B2_ENST00000306803.8_Missense_Mutation_p.E452K			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	453	SH2.				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						TCGGCCTGGGGAGTACGTGCT	0.657000													6	10					0	0	0.003080	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148691741	148691741	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:148691741C>T	ENST00000296721.4	+	9	1092	c.994C>T	c.(994-996)Ctc>Ttc	p.L332F	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.L332F	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	332							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCCCAGTCCTCCTGTGCAA	0.592000													23	201					0	0	0.027356	0	0
TRPA1	8989	broad.mit.edu	37	8	72964964	72964964	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:72964964C>A	ENST00000262209.4	-	14	1888	c.1681G>T	c.(1681-1683)Gcc>Tcc	p.A561S	RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000537896.1_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	561						integral to plasma membrane		p.A561T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ACGGCTTTGGCGTGGCCTTCC	0.468000													75	98					7.62596e-35	1.09577e-34	0.014410	1	0
OR13C2	392376	broad.mit.edu	37	9	107367545	107367545	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr9:107367545G>C	ENST00000542196.1	-	1	406	c.364C>G	c.(364-366)Cgc>Ggc	p.R122G		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCCACATAGCGGTCAAAGGCC	0.517000													32	122					0	0	0.027894	0	0
RYR2	6262	broad.mit.edu	37	1	237880604	237880604	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:237880604G>T	ENST00000366574.2	+	72	10747	c.10430G>T	c.(10429-10431)gGg>gTg	p.G3477V	RYR2_ENST00000360064.6_Missense_Mutation_p.G3475V|RYR2_ENST00000542537.1_Missense_Mutation_p.G3461V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3477					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			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)			CTGCCCATTGGGTTGAACATC	0.488000													12	30					0.00010058	0.000109455	0.013537	1	0
GYS2	2998	broad.mit.edu	37	12	21713361	21713361	+	Missense_Mutation	SNP	G	G	T	rs139043251	byFrequency	TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:21713361G>T	ENST00000261195.2	-	8	1382	c.1128C>A	c.(1126-1128)aaC>aaA	p.N376K		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	376					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GGGTTTCCACGTTGAAATTAT	0.373000													20	86					1.87028e-06	2.11299e-06	0.012319	1	0
VPS13C	54832	broad.mit.edu	37	15	62176408	62176408	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:62176408C>T	ENST00000261517.5	-	68	9475	c.9402G>A	c.(9400-9402)caG>caA	p.Q3134Q	VPS13C_ENST00000249837.3_Silent_p.Q3091Q|VPS13C_ENST00000395898.3_Silent_p.Q3091Q|VPS13C_ENST00000395896.4_Silent_p.Q3134Q	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3134					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATAAGATTATCTGCTTTTGAC	0.313000													17	46					0	0	0.028581	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039538	55039538	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:55039538A>G	ENST00000370862.3	+	1	489	c.153A>G	c.(151-153)aaA>aaG	p.K51K		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	51					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGCACCCGAAAGAATATGAGT	0.557000													28	100					0	0	0.030593	0	0
HMCN1	83872	broad.mit.edu	37	1	186143734	186143734	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:186143734A>G	ENST00000271588.4	+	103	16132	c.15903A>G	c.(15901-15903)ccA>ccG	p.P5301P	HMCN1_ENST00000367492.2_Silent_p.P5301P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5301	EGF-like 5; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTGTATGCCCAAGAGGTTATC	0.423000													18	34					0	0	0.007413	0	0
PLCH1	23007	broad.mit.edu	37	3	155210596	155210596	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:155210596T>A	ENST00000460012.1	-	18	2496	c.2139A>T	c.(2137-2139)aaA>aaT	p.K713N	PLCH1_ENST00000447496.2_Missense_Mutation_p.K731N|PLCH1_ENST00000340059.7_Missense_Mutation_p.K731N|PLCH1_ENST00000334686.6_Missense_Mutation_p.K713N|PLCH1_ENST00000414191.1_Missense_Mutation_p.K713N|PLCH1_ENST00000494598.1_Missense_Mutation_p.K731N			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	731	PI-PLC Y-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGAGCTGCTTTTTGGGGTTGG	0.473000													11	71					0	0	0.016723	0	0
ILDR2	387597	broad.mit.edu	37	1	166927096	166927096	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:166927096T>A	ENST00000271417.3	-	2	344	c.289A>T	c.(289-291)Agg>Tgg	p.R97W	ILDR2_ENST00000528703.1_Missense_Mutation_p.R97W|ILDR2_ENST00000469934.2_Missense_Mutation_p.R97W|ILDR2_ENST00000529387.1_Missense_Mutation_p.R97W|ILDR2_ENST00000526687.1_Missense_Mutation_p.R97W|ILDR2_ENST00000525740.1_Missense_Mutation_p.R97W|ILDR2_ENST00000529071.1_Missense_Mutation_p.R97W	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	97	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						ACAGTCCTCCTGCTGTCCAAA	0.517000													18	96					0	0	0.006122	0	0
ZNF304	57343	broad.mit.edu	37	19	57867553	57867553	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:57867553G>T	ENST00000391705.3	+	4	600	c.316G>T	c.(316-318)Gaa>Taa	p.E106*	ZNF304_ENST00000443917.2_Nonsense_Mutation_p.E153*|ZNF304_ENST00000598744.1_Nonsense_Mutation_p.E64*|ZNF304_ENST00000282286.5_Nonsense_Mutation_p.E106*	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GCACCTGGCTGAACACCAGGG	0.493000													6	30					3.59834e-05	3.95951e-05	0.021553	1	0
CDH7	1005	broad.mit.edu	37	18	63511198	63511198	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr18:63511198T>A	ENST00000536984.2	+	7	1826	c.1132T>A	c.(1132-1134)Tct>Act	p.S378T	CDH7_ENST00000397968.2_Missense_Mutation_p.S378T|CDH7_ENST00000323011.3_Missense_Mutation_p.S378T			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	378	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CCCTGTGTTCTCTTCACCCTT	0.493000													51	42					0	0	0.014410	0	0
LAD1	3898	broad.mit.edu	37	1	201356087	201356087	+	Silent	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:201356087G>C	ENST00000391967.2	-	3	703	c.402C>G	c.(400-402)tcC>tcG	p.S134S	LAD1_ENST00000367313.3_Silent_p.S148S	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	134						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GTTCCTTCTTGGAGACTAGGG	0.647000													21	65					0	0	0.014323	0	0
DMXL1	1657	broad.mit.edu	37	5	118468905	118468905	+	Nonsense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:118468905C>G	ENST00000311085.8	+	11	1474	c.1394C>G	c.(1393-1395)tCa>tGa	p.S465*	DMXL1_ENST00000539542.1_Nonsense_Mutation_p.S465*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	465										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTACCAAACTCAAGTTTTACA	0.348000													27	91					0	0	0.021523	0	0
PDE1C	5137	broad.mit.edu	37	7	31862700	31862700	+	Silent	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:31862700G>T	ENST00000396184.3	-	15	1773	c.1569C>A	c.(1567-1569)gcC>gcA	p.A523A	PDE1C_ENST00000321453.7_Silent_p.A523A|PDE1C_ENST00000396191.1_Silent_p.A523A|PDE1C_ENST00000396182.2_Silent_p.A523A|PDE1C_ENST00000396193.1_Silent_p.A583A	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	523					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGGGTACCTTGGCCCTCCATC	0.453000													28	89					2.65835e-16	3.51281e-16	0.034045	1	0
FAM83D	81610	broad.mit.edu	37	20	37580937	37580937	+	Missense_Mutation	SNP	T	T	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:37580937T>G	ENST00000217429.4	+	4	1663	c.1622T>G	c.(1621-1623)cTg>cGg	p.L541R		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	511					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CCCAAGTACCTGGGCACCCCC	0.542000													7	36					0	0	0.029380	0	0
SLC40A1	30061	broad.mit.edu	37	2	190428482	190428484	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:190428482_190428484delTGA	ENST00000261024.2	-	7	1654_1656	c.1228_1230delTCA	c.(1228-1230)del	p.S410del		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	410					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GAATGAACCTTGATCGGATATCT	0.419													13	63	---	---	---	---					
IMPG2	50939	broad.mit.edu	37	3	100951633	100951633	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:100951633delG	ENST00000193391.7	-	15	3412	c.3225delC	c.(3223-3225)gcfs	p.A1075fs		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1075	EGF-like 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ACCTACAAATGGCCCCGTGCC	0.433													18	16	---	---	---	---					
CD200	4345	broad.mit.edu	37	3	112054808	112054808	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:112054808delG	ENST00000473539.1	+	2	88	c.31delG	c.(31-33)ggfs	p.G12fs	CD200_ENST00000315711.8_Intron|CD200_ENST00000383681.3_Intron|CD200_ENST00000607516.1_3'UTR	NM_001004196.2	NP_001004196.2	P41217	OX2G_HUMAN	CD200 molecule	0					regulation of immune response	integral to plasma membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				CAGGACAATTGGGGGCCCTCT	0.453													26	90	---	---	---	---					
PARP14	54625	broad.mit.edu	37	3	122437372	122437373	+	Frame_Shift_Ins	INS	-	-	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:122437372_122437373insA	ENST00000474629.2	+	14	4640_4641	c.4374_4375insA	c.(4372-4377)acgtgafs	p.*1459fs	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GTCCTTACACCAGTGAAGATGA	0.406													12	86	---	---	---	---					
SLC27A6	28965	broad.mit.edu	37	5	128364079	128364079	+	Frame_Shift_Del	DEL	T	T	-			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:128364079delT	ENST00000262462.4	+	8	2506	c.1496delT	c.(1495-1497)gtfs	p.V499fs	SLC27A6_ENST00000506176.1_Frame_Shift_Del_p.V499fs|SLC27A6_ENST00000395266.1_Frame_Shift_Del_p.V499fs			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	499					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GTTGCTGATGTTATTGGAATG	0.343													22	43	---	---	---	---					
LRRC16A	55604	broad.mit.edu	37	6	25472722	25472723	+	Frame_Shift_Ins	INS	-	-	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:25472722_25472723insT	ENST00000329474.6	+	11	1215_1216	c.847_848insT	c.(847-849)tgcfs	p.C283fs	LRRC16A_ENST00000377969.3_Frame_Shift_Ins_p.C122fs	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	283					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CACAATTAACCTTGCTGGCAAC	0.401													5	4	---	---	---	---					
MS4A14	84689	broad.mit.edu	37	11	60183801	60183801	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:60183801delC	ENST00000300187.6	+	5	1637	c.1360delC	c.(1360-1362)aafs	p.Q454fs	MS4A14_ENST00000395005.2_Frame_Shift_Del_p.Q437fs|MS4A14_ENST00000531783.1_Frame_Shift_Del_p.Q487fs|MS4A14_ENST00000531787.1_Frame_Shift_Del_p.Q342fs	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	454	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GCAAATTTTACAAATGTCATA	0.398													22	51	---	---	---	---					
MYF5	4617	broad.mit.edu	37	12	81111289	81111289	+	Frame_Shift_Del	DEL	G	G	-	rs141800220		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:81111289delG	ENST00000228644.3	+	1	599	c.447delG	c.(445-447)ccfs	p.P149fs		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	149					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						ATAGCCTGCCGGGACAGAGCT	0.557													57	205	---	---	---	---					
SERPINA6	866	broad.mit.edu	37	14	94770871	94770871	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr14:94770871delG	ENST00000341584.3	-	5	1248	c.1102delC	c.(1102-1104)tafs	p.L368fs		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	368					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GTCAGGTTTAGGGTGACCCCA	0.522													19	42	---	---	---	---					
CYP11A1	1583	broad.mit.edu	37	15	74630957	74630958	+	Frame_Shift_Ins	INS	-	-	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:74630957_74630958insA	ENST00000358632.4	-	8	1609_1610	c.914_915insT	c.(913-915)cggfs	p.R305fs	CYP11A1_ENST00000419019.2_Frame_Shift_Ins_p.R305fs|CYP11A1_ENST00000268053.6_Frame_Shift_Ins_p.R463fs	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	463					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TCCGCCGTCCCAGACACTGCCG	0.559													35	68	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													15	279	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577089	7577094	+	In_Frame_Del	DEL	GCGCCG	GCGCCG	-	rs28934574	byFrequency	TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr17:7577089_7577094delGCGCCG	ENST00000420246.2	-	8	976_981	c.844_849delCGGCGC	c.(844-849)del	p.RR282del	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_In_Frame_Del_p.RR282del|TP53_ENST00000269305.4_In_Frame_Del_p.RR282del|TP53_ENST00000445888.2_In_Frame_Del_p.RR282del|TP53_ENST00000455263.2_In_Frame_Del_p.RR282del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.R283P(27)|p.R282Q(27)|p.R283C(17)|p.R282P(17)|p.R283H(13)|p.R282R(10)|p.0?(8)|p.R283L(4)|p.R283R(4)|p.R283fs*62(4)|p.R282fs*24(4)|p.R282L(3)|p.R282H(3)|p.R283G(2)|p.T284fs*62(2)|p.R283fs*63(2)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.T284fs*21(1)|p.T284fs*61(1)|p.R283del(1)|p.R283S(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.D281_R282delDR(1)|p.R280fs*62(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)		CTTCCTCTGTGCGCCGGTCTCTCCCA	0.563		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)			12	21	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684390	26684391	+	Frame_Shift_Ins	INS	-	-	C	rs148075904	by1000genomes	TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr17:26684390_26684391insC	ENST00000540200.1	-	2	80_81	c.81_82insG	c.(79-84)aacgctfs	p.NA27fs	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	28						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCACAGAGCGGCTTTGCCACCG	0.762													4	4	---	---	---	---					
CLDN2	9075	broad.mit.edu	37	X	106171515	106171515	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:106171515delG	ENST00000541806.1	+	2	576	c.57delG	c.(55-57)ttfs	p.L19fs	CLDN2_ENST00000540876.1_Frame_Shift_Del_p.L19fs|CLDN2_ENST00000336803.1_Frame_Shift_Del_p.L19fs	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	19					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TGGGGCTTTTGGGCACACTGG	0.562													48	88	---	---	---	---					
MAMLD1	10046	broad.mit.edu	37	X	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctg>ct	p.LQ596del	MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	596	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611													9	184	---	---	---	---					
