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
TMEM132B	114795	broad.mit.edu	37	12	126138962	126138962	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:126138962G>A	ENST00000299308.3	+	9	2951	c.2943G>A	c.(2941-2943)agG>agA	p.R981R	TMEM132B_ENST00000535886.1_Silent_p.R493R	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	981						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCGAGGAGAGGAACTTCCTTC	0.438000													11	20					0	0	0.000673444	0	0
SYT16	83851	broad.mit.edu	37	14	62463197	62463197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:62463197C>T	ENST00000430451.2	+	1	657	c.460C>T	c.(460-462)Ctt>Ttt	p.L154F	SYT16_ENST00000446982.2_Missense_Mutation_p.L154F	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	154										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AAGAAGTGGCCTTCAACATGG	0.478000													16	52					0	0	0.000422831	0	0
FLG	2312	broad.mit.edu	37	1	152282040	152282040	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:152282040C>T	ENST00000368799.1	-	3	5357	c.5322G>A	c.(5320-5322)caG>caA	p.Q1774Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1774	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGGACTCAGACTGTTCATGAG	0.612000									Ichthyosis				43	254					0	0	0.00222228	0	0
MET	4233	broad.mit.edu	37	7	116339428	116339428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:116339428C>T	ENST00000397752.3	+	2	490	c.290C>T	c.(289-291)cCa>cTa	p.P97L	MET_ENST00000318493.6_Missense_Mutation_p.P97L|MET_ENST00000436117.2_Missense_Mutation_p.P97L	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	97	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GATTGTTTCCCATGTCAGGAC	0.443000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				12	49					0	0	0.000978159	0	0
SYT6	148281	broad.mit.edu	37	1	114680414	114680414	+	Silent	SNP	G	G	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:114680414G>C	ENST00000393296.1	-	3	851	c.774C>G	c.(772-774)gcC>gcG	p.A258A	SYT6_ENST00000369547.1_Silent_p.A173A			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	258	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAAGTCCTTGGCAGGGAGGT	0.552000													30	177					0	0	0.001512	0	0
TADA3	10474	broad.mit.edu	37	3	9831419	9831419	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:9831419G>A	ENST00000343450.2	-	3	983	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	TADA3_ENST00000492635.1_5'UTR|TADA3_ENST00000301964.2_Missense_Mutation_p.P146S|TADA3_ENST00000440161.1_Missense_Mutation_p.P146S	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	146					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						TCATTTTTGGGGATCCGTGGC	0.587000													64	82					0	0	0.000781405	0	0
IL33	90865	broad.mit.edu	37	9	6256006	6256006	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:6256006C>T	ENST00000381434.3	+	7	664	c.651C>T	c.(649-651)ttC>ttT	p.F217F	IL33_ENST00000456383.2_Silent_p.F175F|IL33_ENST00000417746.2_Silent_p.F91F	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	217					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		ACCAGGCCTTCTTTGTCCTTC	0.403000													20	4					0	0	0.00047179	0	0
DNMT3A	1788	broad.mit.edu	37	2	25469116	25469116	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:25469116A>G	ENST00000264709.3	-	11	1679	c.1342T>C	c.(1342-1344)Tac>Cac	p.Y448H	DNMT3A_ENST00000380746.4_Missense_Mutation_p.Y259H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.Y225H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.Y448H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	448					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGGTGCGTAGGCAGCTGCC	0.552000			"""Mis, F, N, S"""		AML								85	141					0	0	0.000781405	0	0
ABCC2	1244	broad.mit.edu	37	10	101563847	101563847	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:101563847T>G	ENST00000370449.4	+	10	1394	c.1281T>G	c.(1279-1281)gaT>gaG	p.D427E		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	427	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGTCTGTGGATGCCCAGAAGC	0.458000													13	22					0	0	0.00185496	0	0
FGD5	152273	broad.mit.edu	37	3	14939518	14939518	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:14939518C>T	ENST00000285046.5	+	6	3092	c.2982C>T	c.(2980-2982)atC>atT	p.I994I	FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Silent_p.I753I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	994	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			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCACTCACATCCTGCAGTTCG	0.602000													35	78					0	0	0.00128727	0	0
DSG2	1829	broad.mit.edu	37	18	29116202	29116202	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:29116202C>T	ENST00000261590.8	+	11	1670	c.1461C>T	c.(1459-1461)atC>atT	p.I487I		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	487	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CAGTCCTTATCAATGTTGAAG	0.403000													36	47					0	0	0.00222228	0	0
MYO9A	4649	broad.mit.edu	37	15	72119333	72119333	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:72119333G>A	ENST00000356056.5	-	42	7707	c.7235C>T	c.(7234-7236)tCc>tTc	p.S2412F	MYO9A_ENST00000444904.1_Missense_Mutation_p.S2393F|MYO9A_ENST00000564571.1_3'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.S2483F	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2412	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						CAACTTGCTGGAAGGTTCAGA	0.443000													10	35					0	0	0.000978159	0	0
EPHA7	2045	broad.mit.edu	37	6	93967895	93967895	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:93967895C>T	ENST00000369303.4	-	11	2216	c.2032G>A	c.(2032-2034)Gac>Aac	p.D678N		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	678	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CACAAAAAGTCTCTCCTTTGT	0.428000													9	18					0	0	0.000442599	0	0
INTS5	80789	broad.mit.edu	37	11	62414849	62414849	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:62414849G>A	ENST00000330574.2	-	2	2755	c.2703C>T	c.(2701-2703)ccC>ccT	p.P901P		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	901					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCAGGTGCCAGGGGGAGTGGG	0.632000													37	39					0	0	0.000814825	0	0
NFIA	4774	broad.mit.edu	37	1	61553989	61553989	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:61553989G>A	ENST00000403491.3	+	2	680	c.196G>A	c.(196-198)Gag>Aag	p.E66K	NFIA_ENST00000407417.3_Missense_Mutation_p.E58K|NFIA_ENST00000371189.4_Missense_Mutation_p.E111K|NFIA_ENST00000485903.2_Missense_Mutation_p.E66K|NFIA_ENST00000371191.1_Missense_Mutation_p.E89K|NFIA_ENST00000479364.1_Intron|NFIA_ENST00000371187.3_Missense_Mutation_p.E66K|NFIA_ENST00000371184.2_Missense_Mutation_p.E66K|NFIA_ENST00000371185.2_Missense_Mutation_p.E66K	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	66					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						TGAAAAACCAGAGGTCAAGCA	0.428000													18	63					0	0	0.00188189	0	0
BTN3A3	10384	broad.mit.edu	37	6	26444392	26444392	+	Missense_Mutation	SNP	C	C	T	rs138755245		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:26444392C>T	ENST00000244519.2	+	4	536	c.293C>T	c.(292-294)tCg>tTg	p.S98L	BTN3A3_ENST00000339789.4_Missense_Mutation_p.S56L|BTN3A3_ENST00000361232.3_Missense_Mutation_p.S56L	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	98	Ig-like V-type 1.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GGGAGAACTTCGATTCTGCGG	0.522000													17	76					0	0	0.00278032	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175629	207175629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:207175629C>T	ENST00000374423.3	+	5	6763	c.6377C>T	c.(6376-6378)tCt>tTt	p.S2126F		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2126							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGTGACTCTTCTCTGTTTCTG	0.413000													26	101					0	0	0.00106085	0	0
DOCK3	1795	broad.mit.edu	37	3	51394464	51394464	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:51394464C>T	ENST00000266037.9	+	44	4598	c.4575C>T	c.(4573-4575)atC>atT	p.I1525I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1525	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCTCCCTGATCAGCCAGTATC	0.522000													35	37					0	0	0.00283554	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47605858	47605858	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:47605858A>T	ENST00000371917.4	+	19	2570	c.2570A>T	c.(2569-2571)aAc>aTc	p.N857I		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	857					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CTGCTGTACAACTTAGAGATG	0.517000													19	52					0	0	0.000958276	0	0
TTN	7273	broad.mit.edu	37	2	179417082	179417082	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179417082T>A	ENST00000589042.1	-	335	90769	c.90545A>T	c.(90544-90546)aAa>aTa	p.K30182I	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K28541I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K21242I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K21309I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K27614I|TTN_ENST00000460472.2_Missense_Mutation_p.K21117I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28541	Fibronectin type-III 120.						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)			GTTTTCAGTTTTACTGAAGCG	0.378000													6	33					0	0	0.00116845	0	0
PDE1C	5137	broad.mit.edu	37	7	31918629	31918629	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:31918629C>T	ENST00000396184.3	-	5	609	c.405G>A	c.(403-405)caG>caA	p.Q135Q	PDE1C_ENST00000396193.1_Silent_p.Q195Q|PDE1C_ENST00000321453.7_Silent_p.Q135Q|PDE1C_ENST00000396182.2_Silent_p.Q135Q|PDE1C_ENST00000396191.1_Silent_p.Q135Q	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	135					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)			ATATCCCAGCCTGCACTGCGT	0.507000													11	77					0	0	0.00244969	0	0
CACNA1C	775	broad.mit.edu	37	12	2794921	2794921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:2794921G>A	ENST00000399655.1	+	44	5858	c.5593G>A	c.(5593-5595)Gaa>Aaa	p.E1865K	CACNA1C_ENST00000399617.1_Missense_Mutation_p.E1900K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E1865K|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E1871K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E1906K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E1900K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E1893K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E1885K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E1936K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.E1913K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E1884K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E1873K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E1873K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E1884K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E1882K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E1884K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E1936K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E1890K	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1948					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.E1913K(2)|p.E1906K(2)|p.E1978K(2)|p.E1900K(2)|p.E1400K(2)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCAGGATGACGAAAATCGGCA	0.592000													4	22					0	0	0.000602214	0	0
C1orf168	199920	broad.mit.edu	37	1	57252873	57252873	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:57252873C>T	ENST00000343433.6	-	4	1008	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	310										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GAGCCCTCTTCCACAGTCACT	0.493000													42	37					0	0	0.000781405	0	0
CEACAM5	1048	broad.mit.edu	37	19	42223929	42223929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:42223929C>T	ENST00000221992.6	+	7	1687	c.1573C>T	c.(1573-1575)Cct>Tct	p.P525S	CEACAM5_ENST00000405816.1_Missense_Mutation_p.P525S|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P524S	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	525	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CACCTGTGAACCTGAGGCTCA	0.567000													67	85					0	0	0.000781405	0	0
FREM1	158326	broad.mit.edu	37	9	14776104	14776104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:14776104C>T	ENST00000380881.4	-	26	5358	c.4543G>A	c.(4543-4545)Ggg>Agg	p.G1515R	FREM1_ENST00000380880.3_Missense_Mutation_p.G1514R|FREM1_ENST00000422223.2_Missense_Mutation_p.G1514R|FREM1_ENST00000380894.1_Missense_Mutation_p.G50R			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1514					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGTCTCAACCCCTTGTTCCTG	0.587000													24	6					0	0	0.000720815	0	0
PDE6B	5158	broad.mit.edu	37	4	650810	650810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:650810G>A	ENST00000255622.6	+	9	1298	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	PDE6B_ENST00000429163.2_Missense_Mutation_p.E140K|PDE6B_ENST00000496514.1_Missense_Mutation_p.E419K	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	419	GAF 2.				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						GGTTCTCATGGAGGTAAGCAC	0.612000													12	35					0	0	0.000422831	0	0
TBC1D9	23158	broad.mit.edu	37	4	141578692	141578692	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:141578692G>A	ENST00000442267.2	-	12	2270	c.2196C>T	c.(2194-2196)acC>acT	p.T732T		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	732						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTCCCAAAACGGTCATGGCCT	0.423000													70	139					0	0	0.000781405	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43939406	43939406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:43939406C>T	ENST00000282406.4	+	15	2454	c.2344C>T	c.(2344-2346)Ccc>Tcc	p.P782S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	782	PH 1.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCAGATTCTCCCAATATATT	0.418000													107	429					0	0	0.000781405	0	0
DEK	7913	broad.mit.edu	37	6	18256622	18256622	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:18256622T>A	ENST00000397239.3	-	5	869	c.422A>T	c.(421-423)cAa>cTa	p.Q141L	DEK_ENST00000244776.7_Missense_Mutation_p.Q107L	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	141					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CTTTTTATATTGGACACTTCC	0.264000			T	NUP214	AML								12	52					0	0	0.00244969	0	0
XIRP2	129446	broad.mit.edu	37	2	168103231	168103231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:168103231G>A	ENST00000409195.1	+	9	5418	c.5329G>A	c.(5329-5331)Gag>Aag	p.E1777K	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1555K|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1777K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1602					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						ACAAGAAGGAGAGAAAGAAAT	0.403000													11	22					0	0	0.00185496	0	0
GPRC5A	9052	broad.mit.edu	37	12	13061549	13061549	+	Silent	SNP	C	C	T	rs142201347		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:13061549C>T	ENST00000014914.5	+	2	1256	c.366C>T	c.(364-366)ctC>ctT	p.L122L	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	122						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TGACCAAGCTCGTCCGGGGGA	0.557000													38	135					0	0	0.00128727	0	0
OR2M2	391194	broad.mit.edu	37	1	248343329	248343329	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:248343329C>T	ENST00000359682.2	+	1	42	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACTTCATCCTCCTTGGAATCT	0.433000													32	128					0	0	0.000814825	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275642	130275642	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:130275642G>A	ENST00000257359.6	-	9	3187	c.2481C>T	c.(2479-2481)atC>atT	p.I827I		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	827	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCGGCTGGATGATGTTGGTGG	0.577000													50	62					0	0	0.000781405	0	0
RAB27B	5874	broad.mit.edu	37	18	52544899	52544899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:52544899G>A	ENST00000262094.5	+	2	604	c.83G>A	c.(82-84)aGa>aAa	p.R28K	RAB27B_ENST00000586594.1_3'UTR	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	28					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		TTTCTTTATAGATACACAGAT	0.413000													19	35					0	0	0.00074312	0	0
BTNL3	10917	broad.mit.edu	37	5	180432702	180432702	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:180432702C>T	ENST00000342868.6	+	8	1415	c.1231C>T	c.(1231-1233)Ctg>Ttg	p.L411L		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	411	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			AGGGGTCTTCCTGGACTATGA	0.478000													13	27					0	0	0.00244969	0	0
DNAH5	1767	broad.mit.edu	37	5	13727616	13727616	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:13727616C>T	ENST00000265104.4	-	70	12137	c.12033_splice	c.e70+1	p.Q4011_splice		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4011					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACTTTTTACCTGGGCGATGG	0.338000									Kartagener syndrome				8	24					0	0	0.000274275	0	0
MYOM1	8736	broad.mit.edu	37	18	3131480	3131480	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:3131480C>T	ENST00000400569.3	-	17	2732	c.2399G>A	c.(2398-2400)gGa>gAa	p.G800E	MYOM1_ENST00000261606.7_Missense_Mutation_p.G800E|MYOM1_ENST00000356443.4_Missense_Mutation_p.G800E			P52179	MYOM1_HUMAN	myomesin 1	800	Fibronectin type-III 3.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGTCACTAATCCATGACAAGT	0.378000													22	37					0	0	0.000586117	0	0
ZNF425	155054	broad.mit.edu	37	7	148801022	148801022	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:148801022G>A	ENST00000378061.2	-	4	2073	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	647					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACTGTTGAGTGAAACTTTTGC	0.537000													40	143					0	0	0.0025221	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985541	140985541	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:140985541A>T	ENST00000298296.1	+	8	1855	c.1855A>T	c.(1855-1857)Att>Ttt	p.I619F	MAGEC3_ENST00000409007.1_3'UTR|MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000536088.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	619	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGCCATAATTGACACCAC	0.483000													43	1					0	0	0.000680045	0	0
FAM183A	440585	broad.mit.edu	37	1	43621918	43621918	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:43621918G>A	ENST00000410048.1	+	4	351	c.255G>A	c.(253-255)agG>agA	p.R85R	FAM183A_ENST00000409337.1_3'UTR|FAM183A_ENST00000335282.4_Silent_p.R113R			A6NL82	F183A_HUMAN	family with sequence similarity 183, member A	113										kidney(1)|large_intestine(1)|lung(2)|ovary(3)	7						ATCACTTCAGGGTCTGCAGTG	0.512000													20	99					0	0	0.00047179	0	0
CYP2C18	1562	broad.mit.edu	37	10	96493179	96493179	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:96493179C>T	ENST00000285979.6	+	8	1474	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Silent_p.F366F	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		GTGACTACTTCATGCCTTTCT	0.438000													8	13					0	0	0.000157383	0	0
VWA3A	146177	broad.mit.edu	37	16	22126769	22126769	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:22126769C>T	ENST00000389398.5	+	9	887	c.791C>T	c.(790-792)tCc>tTc	p.S264F	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	264						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GGACTGGATTCCCTGGTGGCC	0.468000													14	8					0	0	0.000308642	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900195	151900195	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:151900195C>T	ENST00000393900.3	-	3	959	c.606G>A	c.(604-606)ctG>ctA	p.L202L	MAGEA12_ENST00000357916.4_Silent_p.L202L|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.L202L	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	202	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGACGATTATCAGGAGGCCTG	0.582000													56	62					0	0	0.000781405	0	0
FLNC	2318	broad.mit.edu	37	7	128494728	128494728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:128494728G>A	ENST00000325888.8	+	41	7250	c.6989G>A	c.(6988-6990)gGc>gAc	p.G2330D	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.G2297D	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2330					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGTGTGGCCGGCGTGCCAGGT	0.672000													8	19					0	0	0.000157383	0	0
MYLK3	91807	broad.mit.edu	37	16	46763512	46763512	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:46763512C>T	ENST00000394809.4	-	6	1771	c.1656G>A	c.(1654-1656)aaG>aaA	p.K552K	MYLK3_ENST00000536476.1_Silent_p.K211K	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	552	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCACCCGGTCCTTGGCGCTCT	0.612000													16	42					0	0	0.000958276	0	0
KIAA0141	9812	broad.mit.edu	37	5	141318137	141318137	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:141318137C>T	ENST00000432126.2	+	12	1495	c.1361C>T	c.(1360-1362)cCc>cTc	p.P454L	KIAA0141_ENST00000194118.4_Missense_Mutation_p.P454L	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	454					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTCCAGCCCCTCCCTCTGC	0.562000													46	31					0	0	0.000781405	0	0
TECTA	7007	broad.mit.edu	37	11	120998562	120998562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:120998562C>T	ENST00000392793.1	+	9	2147	c.1876C>T	c.(1876-1878)Ccg>Tcg	p.P626S	TECTA_ENST00000264037.2_Missense_Mutation_p.P626S			O75443	TECTA_HUMAN	tectorin alpha	626	TIL 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGCGCCACGCCGTGCACAGA	0.652000													22	19					0	0	0.00152264	0	0
EFS	10278	broad.mit.edu	37	14	23826617	23826617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:23826617C>T	ENST00000216733.3	-	6	2111	c.1504G>A	c.(1504-1506)Gca>Aca	p.A502T	EFS_ENST00000429593.2_Missense_Mutation_p.A333T|EFS_ENST00000351354.3_Missense_Mutation_p.A409T	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	502					cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CTGACCTGTGCTCTCAGAGGG	0.657000													7	24					0	0	0.00198382	0	0
KCNN3	3782	broad.mit.edu	37	1	154705510	154705510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:154705510C>T	ENST00000271915.3	-	4	1874	c.1559G>A	c.(1558-1560)gGg>gAg	p.G520E	KCNN3_ENST00000358505.2_Missense_Mutation_p.G207E|KCNN3_ENST00000361147.4_Missense_Mutation_p.G215E	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	525						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GACACCTTTCCCACAGTATGT	0.507000													23	64					0	0	0.00229938	0	0
TMEM255B	348013	broad.mit.edu	37	13	114502317	114502317	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:114502317G>A	ENST00000375353.3	+	5	375	c.348G>A	c.(346-348)ccG>ccA	p.P116P		NM_182614.2	NP_872420.1			transmembrane protein 255B																		TCTAGGAACCGAGGCCCCTCA	0.547000													8	30					0	0	0.000274275	0	0
SUSD2	56241	broad.mit.edu	37	22	24581879	24581879	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:24581879T>C	ENST00000358321.3	+	8	1582	c.1321T>C	c.(1321-1323)Tac>Cac	p.Y441H		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	441					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CTGCCGCAACTACCGGCCCCC	0.657000													13	7					0	0	0.00244969	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5655033	5655033	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:5655033G>A	ENST00000354852.5	+	9	1658		c.e9-1		TRIM6-TRIM34_ENST00000457787.2_Splice_Site|TRIM34_ENST00000514226.1_Splice_Site|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000429814.2_Splice_Site	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN								intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		CCTTCTCATAGGAGAAACTCC	0.438000													16	14					0	0	0.00121646	0	0
PLCB4	5332	broad.mit.edu	37	20	9438082	9438082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:9438082G>A	ENST00000378501.2	+	30	2997	c.2982G>A	c.(2980-2982)atG>atA	p.M994I	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.M1006I|PLCB4_ENST00000278655.4_Missense_Mutation_p.M994I|PLCB4_ENST00000334005.3_Missense_Mutation_p.M994I|PLCB4_ENST00000378493.1_Missense_Mutation_p.M994I|PLCB4_ENST00000414679.2_Missense_Mutation_p.M1006I	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	994					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GTCTCGAAATGAAAAAAGAAA	0.368000													22	20					0	0	0.000586117	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43846459	43846459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:43846459C>T	ENST00000389420.3	-	13	1799	c.1800G>A	c.(1798-1800)atG>atA	p.M600I	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.M600I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	600	TSP type-1 1.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATCGAAATTTCATCCTGCGGC	0.388000													11	5					0	0	0.000978159	0	0
LAMA3	3909	broad.mit.edu	37	18	21513856	21513856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:21513856G>A	ENST00000313654.9	+	67	9060	c.8819G>A	c.(8818-8820)gGt>gAt	p.G2940D	LAMA3_ENST00000399516.3_Missense_Mutation_p.G2884D|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.G1331D|LAMA3_ENST00000587184.1_Missense_Mutation_p.G1275D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2940					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGCTTAAAGGTTCTACCAGG	0.463000													12	78					0	0	0.00136819	0	0
OR5M8	219484	broad.mit.edu	37	11	56258650	56258650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:56258650G>A	ENST00000327216.2	-	1	221	c.197C>T	c.(196-198)tCc>tTc	p.S66F		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					ATCCACGAAGGATAAGTGGCT	0.488000													21	33					0	0	0.00152264	0	0
DENND2D	79961	broad.mit.edu	37	1	111730783	111730783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:111730783C>T	ENST00000357640.4	-	11	1538	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	DENND2D_ENST00000369752.5_Missense_Mutation_p.E434K	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	437	dDENN.									breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TTCTCGGCTTCCTGGATGAAA	0.473000													23	102					0	0	0.00278032	0	0
FHL5	9457	broad.mit.edu	37	6	97053872	97053872	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:97053872C>T	ENST00000326771.2	+	5	809	c.429C>T	c.(427-429)atC>atT	p.I143I	FHL5_ENST00000541107.1_Silent_p.I143I	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	143	LIM zinc-binding 2.					nucleus	zinc ion binding	p.I143I(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AGCCTTTGATCTCCAAAGAGA	0.413000													15	18					0	0	0.000308642	0	0
ZNF606	80095	broad.mit.edu	37	19	58500040	58500040	+	Nonsense_Mutation	SNP	C	C	T	rs151102847		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:58500040C>T	ENST00000341164.4	-	5	847	c.227G>A	c.(226-228)tGg>tAg	p.W76*	ZNF606_ENST00000536132.1_5'UTR	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CAGCTGCCCCCACTCTTCTTG	0.547000													48	167					0	0	0.000781405	0	0
MDGA2	161357	broad.mit.edu	37	14	47314980	47314980	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:47314980A>G	ENST00000426342.1	-	16	2830	c.2084T>C	c.(2083-2085)cTa>cCa	p.L695P	MDGA2_ENST00000439988.2_Missense_Mutation_p.L924P|MDGA2_ENST00000357362.3_Missense_Mutation_p.L695P|MDGA2_ENST00000399232.2_Missense_Mutation_p.L993P|MDGA2_ENST00000399222.3_Missense_Mutation_p.L126P	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	924					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CTTAGTTGCTAGGTCTTGTTT	0.313000													9	57					0	0	0.000442599	0	0
CDH7	1005	broad.mit.edu	37	18	63430132	63430132	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:63430132C>T	ENST00000536984.2	+	2	748	c.54C>T	c.(52-54)ttC>ttT	p.F18F	CDH7_ENST00000323011.3_Silent_p.F18F|CDH7_ENST00000397968.2_Silent_p.F18F			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	18					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)				TAGCTCTTTTCCTGTGTTTTT	0.438000													4	19					0	0	0.000602214	0	0
ABCD1	215	broad.mit.edu	37	X	153001940	153001940	+	Missense_Mutation	SNP	C	C	T	rs144965658		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:153001940C>T	ENST00000218104.3	+	4	1765	c.1366C>T	c.(1366-1368)Cgt>Tgt	p.R456C	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	456					fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCTGGTGTCCGTGTGGAGGG	0.632000													17	16					0	0	0.00074312	0	0
UTP20	27340	broad.mit.edu	37	12	101685850	101685850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:101685850C>T	ENST00000261637.4	+	10	1315	c.1141C>T	c.(1141-1143)Ccg>Tcg	p.P381S		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	381					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGTTTCCTTGCCGGAGACCCT	0.388000													35	98					0	0	0.000953801	0	0
OR10V1	390201	broad.mit.edu	37	11	59481031	59481031	+	Silent	SNP	C	C	T	rs149864754		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:59481031C>T	ENST00000307552.2	-	1	306	c.288G>A	c.(286-288)acG>acA	p.T96T	STX3_ENST00000300150.7_5'UTR	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						TGCCACATCCCGTGATGGAAA	0.473000													16	13					0	0	0.00121646	0	0
PRKCG	5582	broad.mit.edu	37	19	54403977	54403977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:54403977G>A	ENST00000263431.3	+	14	1831	c.1549G>A	c.(1549-1551)Ggg>Agg	p.G517R	PRKCG_ENST00000542049.1_Missense_Mutation_p.G404R|PRKCG_ENST00000540413.1_Missense_Mutation_p.G517R	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	517	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CACCTTCTGCGGGACCCCGGA	0.562000													60	217					0	0	0.000781405	0	0
TRIM71	131405	broad.mit.edu	37	3	32933286	32933286	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:32933286C>T	ENST00000383763.4	+	4	2653	c.2590C>T	c.(2590-2592)Cga>Tga	p.R864*		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	864					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGGCAACAATCGAATCCTCGT	0.517000													85	70					0	0	0.000781405	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439873	150439873	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:150439873G>A	ENST00000358647.3	+	3	1013	c.646G>A	c.(646-648)Ggc>Agc	p.G216S	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAGCGAGAGGGCTCCTTCCA	0.592000													20	59					0	0	0.00152264	0	0
WNT5A	7474	broad.mit.edu	37	3	55504257	55504257	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:55504257C>T	ENST00000474267.1	-	6	1527	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	WNT5A_ENST00000264634.4_Missense_Mutation_p.E336K|WNT5A_ENST00000497027.1_Missense_Mutation_p.E321K			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	336					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CACATGAGCTCGCAGCCATCC	0.637000													22	72					0	0	0.00106085	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053903	95053903	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:95053903C>T	ENST00000329597.7	+	3	414	c.204C>T	c.(202-204)tcC>tcT	p.S68S	SERPINA5_ENST00000553780.1_Silent_p.S68S|SERPINA5_ENST00000554866.1_Silent_p.S68S|SERPINA5_ENST00000554276.1_Silent_p.S68S	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	68					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TCTTCTTCTCCCCTGTGAGCA	0.607000													9	43					0	0	0.000274275	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545426	234545426	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:234545426G>A	ENST00000344644.5	+	1	327	c.258G>A	c.(256-258)caG>caA	p.Q86Q	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Silent_p.Q86Q	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGGAAGATCAGAACCGGGAAT	0.428000													25	91					0	0	0.00127121	0	0
CCDC13	152206	broad.mit.edu	37	3	42775086	42775086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:42775086C>T	ENST00000310232.6	-	11	1470	c.1387G>A	c.(1387-1389)Gga>Aga	p.G463R	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	463										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TCACCCACTCCTTTATTCCGA	0.592000													16	63					0	0	0.000958276	0	0
MGAM	8972	broad.mit.edu	37	7	141799458	141799458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:141799458C>T	ENST00000475668.2	+	67	7849	c.7795C>T	c.(7795-7797)Cct>Tct	p.P2599S	MGAM_ENST00000549489.2_Missense_Mutation_p.P1703S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1703					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTGCCAGCCCCTCTTGACCA	0.527000													28	60					0	0	0.00127121	0	0
ZNF536	9745	broad.mit.edu	37	19	31025854	31025854	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:31025854G>A	ENST00000355537.3	+	3	2418	c.2271G>A	c.(2269-2271)ggG>ggA	p.G757G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	757					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGTACTGTGGGAAAACTTTCC	0.597000													35	98					0	0	0.000814825	0	0
SASH3	54440	broad.mit.edu	37	X	128924974	128924974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:128924974G>A	ENST00000356892.3	+	4	473	c.359G>A	c.(358-360)aGc>aAc	p.S120N		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	120										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						AGCCTGGACAGCCCTGGCCCT	0.617000													55	3					0	0	0.000781405	0	0
ACACB	32	broad.mit.edu	37	12	109639469	109639469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:109639469C>T	ENST00000338432.7	+	19	2995	c.2876C>T	c.(2875-2877)gCc>gTc	p.A959V	ACACB_ENST00000377854.5_Missense_Mutation_p.A959V|ACACB_ENST00000377848.3_Missense_Mutation_p.A959V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	959	Biotinyl-binding.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGCGTGGTGGCCAGGCTGGAG	0.587000													34	26					0	0	0.000692331	0	0
ZNF229	7772	broad.mit.edu	37	19	44933669	44933669	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:44933669C>T	ENST00000291187.4	-	6	1591	c.1269G>A	c.(1267-1269)ggG>ggA	p.G423G	ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Silent_p.G429G	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGGGCTTCTCCCCTGTGTGCA	0.537000													9	35					0	0	0.000274275	0	0
IGHV3-49	28423	broad.mit.edu	37	14	107013112	107013112	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:107013112C>T	ENST00000390625.2	-	0	262																											CCAGCCCCTTCCCTGGAGCCT	0.532000													17	55					0	0	0.000566183	0	0
MIA3	375056	broad.mit.edu	37	1	222838656	222838656	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:222838656G>T	ENST00000344922.5	+	28	5444	c.5419G>T	c.(5419-5421)Ggt>Tgt	p.G1807C	MIA3_ENST00000340535.7_Missense_Mutation_p.G685C|MIA3_ENST00000344441.6_Missense_Mutation_p.G1807C|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1807	Pro-rich.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TCCAGGCCCTGGTATGCGTCC	0.438000													9	419					0.000673444	0.00246429	0.000673444	1	0
OR2T3	343173	broad.mit.edu	37	1	248637552	248637552	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:248637552G>A	ENST00000359594.2	+	1	926	c.901G>A	c.(901-903)Gat>Aat	p.D301N		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCGCAACAAAGATGTCACCAG	0.478000													17	297					0	0	0.00278032	0	0
TMC3	342125	broad.mit.edu	37	15	81636269	81636269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:81636269C>T	ENST00000558726.1	-	14	1774	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	TMC3_ENST00000359440.5_Missense_Mutation_p.E546K|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	546						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AACTTGCTCTCCAGATCCCAA	0.453000													17	9					0	0	0.00121646	0	0
GNAS	2778	broad.mit.edu	37	20	57429142	57429142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:57429142C>T	ENST00000306120.3	+	1	632	c.632C>T	c.(631-633)cCc>cTc	p.P211L	GNAS_ENST00000371100.4_Silent_p.P274P|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Silent_p.P274P|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371102.4_Silent_p.P274P|GNAS_ENST00000464624.2_3'UTR			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ACGCGCCTCCCCTCTGGGTCC	0.677000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			12	20					0	0	0.000422831	0	0
MID2	11043	broad.mit.edu	37	X	107169963	107169963	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:107169963C>T	ENST00000262843.6	+	10	2416	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F	MID2_ENST00000443968.2_Missense_Mutation_p.S593F|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	623	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AAGAATGCCTCCTCATGGGTC	0.468000													17	15					0	0	0.000422831	0	0
TMEM184B	25829	broad.mit.edu	37	22	38642014	38642014	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:38642014G>A	ENST00000361906.3	-	3	493	c.285C>T	c.(283-285)tcC>tcT	p.S95S	TMEM184B_ENST00000361684.4_Silent_p.S95S	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	95						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					GGCTGAGCCAGGAGTCAAAGG	0.607000													28	127					0	0	0.00178596	0	0
TRIM55	84675	broad.mit.edu	37	8	67062607	67062607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:67062607G>A	ENST00000315962.4	+	7	1264	c.891G>A	c.(889-891)atG>atA	p.M297I	TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Missense_Mutation_p.M297I|TRIM55_ENST00000276573.7_Missense_Mutation_p.M297I	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	297	COS.					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CATTTCAGATGGAGAAAATAG	0.378000													18	31					0	0	0.000958276	0	0
MYO15A	51168	broad.mit.edu	37	17	18042918	18042918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:18042918G>A	ENST00000205890.5	+	19	5542	c.5204G>A	c.(5203-5205)cGg>cAg	p.R1735Q	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1735	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTACGGAGCCGGACACGGGTA	0.637000													11	14					0	0	0.00136819	0	0
TECPR2	9895	broad.mit.edu	37	14	102843242	102843242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:102843242C>T	ENST00000359520.7	+	2	410	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	TECPR2_ENST00000558678.1_Missense_Mutation_p.R62W|TECPR2_ENST00000561228.1_3'UTR	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	62							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TCTGTACTGCCGGCACCTCAA	0.557000													8	32					0	0	0.000442599	0	0
DNAH8	1769	broad.mit.edu	37	6	38759333	38759333	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:38759333C>T	ENST00000359357.3	+	19	2387	c.2133C>T	c.(2131-2133)atC>atT	p.I711I	DNAH8_ENST00000441566.1_Silent_p.I711I|DNAH8_ENST00000449981.2_Silent_p.I928I					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						CCTTGTAGATCAGTGACTTGT	0.348000													16	16					0	0	0.000308642	0	0
DNAH5	1767	broad.mit.edu	37	5	13718991	13718991	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:13718991C>T	ENST00000265104.4	-	72	12603	c.12499_splice	c.e72+1	p.G4167_splice		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4167	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGGACTCACCACTATATGTT	0.388000									Kartagener syndrome				11	44					0	0	0.000978159	0	0
VSX2	338917	broad.mit.edu	37	14	74727351	74727351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:74727351G>A	ENST00000261980.2	+	5	905	c.815G>A	c.(814-816)gGg>gAg	p.G272E		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	272					multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		AAGCCCGAGGGGGAACGCCAG	0.612000													10	22					0	0	0.000978159	0	0
COL16A1	1307	broad.mit.edu	37	1	32164197	32164197	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:32164197G>A	ENST00000373672.3	-	5	793	c.277C>T	c.(277-279)Cct>Tct	p.P93S	COL16A1_ENST00000271069.6_Missense_Mutation_p.P93S|COL16A1_ENST00000373668.3_Missense_Mutation_p.P93S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	93	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGACCCCGAGGGAATACTCTT	0.572000													13	42					0	0	0.00185496	0	0
ADAM9	8754	broad.mit.edu	37	8	38913098	38913098	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:38913098C>T	ENST00000487273.2	+	14	1476	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	466	Disintegrin.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TTCACTAGTTCCTTCCAGGAG	0.358000													14	21					0	0	0.000308642	0	0
GGA3	23163	broad.mit.edu	37	17	73257653	73257653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:73257653C>T	ENST00000245541.6	-	1	232	c.16G>A	c.(16-18)Ggg>Agg	p.G6R	GGA3_ENST00000578348.1_Intron|GGA3_ENST00000538886.1_5'UTR|GGA3_ENST00000537686.1_Missense_Mutation_p.G6R|GGA3_ENST00000351904.7_Missense_Mutation_p.G6R|GGA3_ENST00000579743.1_Intron|GGA3_ENST00000582717.1_Intron|GGA3_ENST00000582486.1_Intron	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	6	Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			AGGCTTTCCCCTTCCGCCTCC	0.697000													7	27					0	0	0.000157383	0	0
TTN	7273	broad.mit.edu	37	2	179621439	179621439	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179621439C>T	ENST00000589042.1	-	46	10988	c.10764G>A	c.(10762-10764)aaG>aaA	p.K3588K	TTN_ENST00000360870.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Silent_p.K3417K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3274							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)			TGCTCTCCTCCTTTGTGAAAG	0.408000													18	18					0	0	0.00074312	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182909513	182909513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:182909513C>T	ENST00000367547.3	-	3	957	c.721G>A	c.(721-723)Gga>Aga	p.G241R	SHCBP1L_ENST00000423786.1_Missense_Mutation_p.G122R|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	313										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						GTATCTTGTCCCTCAACAGGA	0.353000													29	114					0	0	0.00283554	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120345286	120345286	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:120345286A>C	ENST00000397843.2	+	32	3217	c.3051A>C	c.(3049-3051)aaA>aaC	p.K1017N	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.K998N|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.K914N	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1017					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATTTAACAAAAAGGAAGATGA	0.323000			T	MLL	AML								39	39					0	0	0.000781405	0	0
TCL6	27004	broad.mit.edu	37	14	96136862	96136862	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:96136862C>T	ENST00000467865.1	+	0	1972				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		GTCCTTTTTTCCTTCCTTCTC	0.502000			T	TRA@	T-ALL								10	32					0	0	0.000442599	0	0
PZP	5858	broad.mit.edu	37	12	9345244	9345244	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:9345244G>A	ENST00000261336.2	-	12	1374	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	PZP_ENST00000381997.2_Missense_Mutation_p.S318F	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCCACTTAAGGAGAAAACACG	0.498000													29	59					0	0	0.0024448	0	0
PHKA2	5256	broad.mit.edu	37	X	18942232	18942232	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:18942232G>A	ENST00000379942.4	-	17	2400	c.1735C>T	c.(1735-1737)Cat>Tat	p.H579Y		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	579					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					ACAGCAGAATGAATGTCTGAG	0.358000													44	55					0	0	0.000680045	0	0
RTP3	83597	broad.mit.edu	37	3	46542035	46542035	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:46542035G>A	ENST00000296142.3	+	2	917	c.345G>A	c.(343-345)ctG>ctA	p.L115L		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	115					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CAAGGATCCTGAAAAACCTGG	0.463000													53	64					0	0	0.000781405	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169713205	169713205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:169713205G>A	ENST00000444448.2	+	15	1617	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	NOSTRIN_ENST00000458381.2_Missense_Mutation_p.E381K|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.E246K|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.E246K|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.E324K|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.E296K|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.E296K			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	324					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TTCAGGCCTGGAACGAATGCT	0.483000													22	60					0	0	0.00229938	0	0
CCDC159	126075	broad.mit.edu	37	19	11460799	11460799	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:11460799C>T	ENST00000588790.1	+	6	597	c.150C>T	c.(148-150)ttC>ttT	p.F50F	CCDC159_ENST00000458408.1_Silent_p.F50F			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	165										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						CCCAGGCTTTCGAGTTCCTGA	0.562000													5	21					0	0	0.000602214	0	0
ALK	238	broad.mit.edu	37	2	29519850	29519850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:29519850C>T	ENST00000389048.3	-	9	2627	c.1721G>A	c.(1720-1722)gGg>gAg	p.G574E	ALK_ENST00000431873.1_Intron|ALK_ENST00000498037.1_5'UTR	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	574	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TTGCTCCTTCCCGGTTTTGTT	0.567000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				16	34					0	0	0.000422831	0	0
MYH8	4626	broad.mit.edu	37	17	10317277	10317277	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:10317277C>T	ENST00000403437.2	-	12	1183	c.1089G>A	c.(1087-1089)ggG>ggA	p.G363G	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	363	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTTCATGTTCCCATAATGCA	0.448000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				48	51					0	0	0.000781405	0	0
SLC17A4	10050	broad.mit.edu	37	6	25776930	25776930	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:25776930C>T	ENST00000377905.4	+	9	1214	c.1095C>T	c.(1093-1095)acC>acT	p.T365T	SLC17A4_ENST00000439485.2_Silent_p.T135T|SLC17A4_ENST00000397076.2_Silent_p.T135T	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	365					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GACTCATCACCATCAGGAAAC	0.488000													16	30					0	0	0.000422831	0	0
IGHM	3507	broad.mit.edu	37	14	106320563	106320563	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:106320563G>A	ENST00000390559.2	-	0	1246																											GGCCTCATGGGCCACCACGCA	0.632000													17	39					0	0	0.000566183	0	0
LTBP2	4053	broad.mit.edu	37	14	74967682	74967682	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:74967682C>T	ENST00000261978.4	-	36	5757	c.5371G>A	c.(5371-5373)Ggt>Agt	p.G1791S	LTBP2_ENST00000556690.1_Missense_Mutation_p.G1747S	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1791	EGF-like 20; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCGCAGTAACCATGGACACAG	0.587000											OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	20					0	0	0.000673444	0	0
PKP4	8502	broad.mit.edu	37	2	159481448	159481448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:159481448C>T	ENST00000389757.3	+	7	787	c.662C>T	c.(661-663)tCt>tTt	p.S221F	PKP4_ENST00000389759.3_Missense_Mutation_p.S221F	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	221					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AGAGCACAGTCTCCTTCTTAT	0.512000										HNSCC(62;0.18)			33	105					0	0	0.00111076	0	0
TTC25	83538	broad.mit.edu	37	17	40093094	40093094	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:40093094C>T	ENST00000591658.1	+	0	607							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TGGAAGGCCTCGCTCAAGAGT	0.512000													31	81					0	0	0.00283554	0	0
SLC12A3	6559	broad.mit.edu	37	16	56906280	56906280	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:56906280C>T	ENST00000438926.2	+	7	899	c.870C>T	c.(868-870)ttC>ttT	p.F290F	SLC12A3_ENST00000566786.1_Silent_p.F289F|SLC12A3_ENST00000262502.5_Silent_p.F289F|SLC12A3_ENST00000563236.1_Silent_p.F290F	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	290					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TGCTGTTCTTCCTTGTCATCA	0.552000													8	43					0	0	0.000274275	0	0
FCGBP	8857	broad.mit.edu	37	19	40357711	40357711	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:40357711G>A	ENST00000221347.6	-	34	15609	c.15602C>T	c.(15601-15603)tCc>tTc	p.S5201F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5201	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGAGCTTGAGGAACAGGAACA	0.602000													8	40					0	0	0.000442599	0	0
CHST11	50515	broad.mit.edu	37	12	105150977	105150977	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:105150977C>T	ENST00000303694.5	+	3	894	c.455C>T	c.(454-456)gCc>gTc	p.A152V	CHST11_ENST00000549260.1_Missense_Mutation_p.A147V	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	152					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GAGATCCCGGCCAACGAGGCA	0.572000													10	48					0	0	0.000978159	0	0
CD163	9332	broad.mit.edu	37	12	7653826	7653826	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:7653826C>T	ENST00000359156.4	-	3	568	c.366G>A	c.(364-366)ggG>ggA	p.G122G	CD163_ENST00000432237.2_Silent_p.G122G|CD163_ENST00000541972.1_Silent_p.G110G|CD163_ENST00000396620.3_Silent_p.G122G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	122	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CTGACTCATTCCCACGACAAG	0.483000													76	49					0	0	0.000781405	0	0
YIPF7	285525	broad.mit.edu	37	4	44626725	44626725	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:44626725G>A	ENST00000332990.5	-	5	589	c.573C>T	c.(571-573)aaC>aaT	p.N191N		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	191						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						AGCTCATCAGGTTCAGCAAGG	0.512000													4	15					0	0	0.00024832	0	0
SPEG	10290	broad.mit.edu	37	2	220348742	220348742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:220348742C>T	ENST00000312358.7	+	30	6689	c.6557C>T	c.(6556-6558)cCc>cTc	p.P2186L	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2186	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCCCCAAACCCAGTACCCCT	0.672000													10	47					0	0	0.000673444	0	0
ZNF229	7772	broad.mit.edu	37	19	44933871	44933871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:44933871G>A	ENST00000291187.4	-	6	1389	c.1067C>T	c.(1066-1068)tCg>tTg	p.S356L	ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.S362L	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AAGAAGAACCGATTTATACCT	0.498000													31	90					0	0	0.00209593	0	0
SNHG14	104472715	broad.mit.edu	37	15	25324137	25324137	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:25324137C>T	ENST00000549804.2	+	0	1372																											TGGATCCCTTCATACGGTATG	0.478000													15	7					0	0	0.00244969	0	0
SORCS3	22986	broad.mit.edu	37	10	107022168	107022168	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:107022168G>A	ENST00000369701.3	+	26	3750	c.3523G>A	c.(3523-3525)Gaa>Aaa	p.E1175K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1175						integral to membrane	neuropeptide receptor activity	p.E1175K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GAGCCAAAGTGAAAACGCCCC	0.507000													10	19					0	0	0.000978159	0	0
RWDD4	201965	broad.mit.edu	37	4	184572254	184572254	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:184572254G>A	ENST00000326397.5	-	4	518	c.246C>T	c.(244-246)gcC>gcT	p.A82A	RWDD4_ENST00000327570.9_Silent_p.A82A|RWDD4_ENST00000512740.1_Silent_p.A19A|RWDD4_ENST00000510968.1_5'UTR	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	82	RWD.									large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						CCTGTAGCTTGGCTAATATAC	0.368000													16	38					0	0	0.000308642	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733493	56733493	+	Silent	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:56733493T>A	ENST00000587340.1	-	7	1637	c.942A>T	c.(940-942)ggA>ggT	p.G314G	ZSCAN5A_ENST00000592355.1_Silent_p.G313G|ZSCAN5A_ENST00000254165.3_Silent_p.G197G|ZSCAN5A_ENST00000587492.1_Silent_p.G168G|ZSCAN5A_ENST00000391713.1_Silent_p.G314G			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	314					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GTGTGGCTTCTCCTTGAGGCT	0.562000													40	99					0	0	0.00148497	0	0
RAB27B	5874	broad.mit.edu	37	18	52556538	52556538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:52556538G>A	ENST00000262094.5	+	6	1072	c.551G>A	c.(550-552)cGa>cAa	p.R184Q	RP11-839G9.1_ENST00000588466.1_RNA	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	184					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity	p.R184Q(1)		large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		ATCATGAAGCGAATGGAACAG	0.418000													11	45					0	0	0.00136819	0	0
KRT2	3849	broad.mit.edu	37	12	53042018	53042018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:53042018G>A	ENST00000309680.3	-	5	1082	c.1061C>T	c.(1060-1062)gCc>gTc	p.A354V		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	354	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTCATACTGGGCCTTGACCTC	0.552000													42	99					0	0	0.00222228	0	0
VPS13C	54832	broad.mit.edu	37	15	62253984	62253984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:62253984G>A	ENST00000261517.5	-	35	3785	c.3712C>T	c.(3712-3714)Cgt>Tgt	p.R1238C	VPS13C_ENST00000395898.3_Missense_Mutation_p.R1195C|VPS13C_ENST00000249837.3_Missense_Mutation_p.R1195C|VPS13C_ENST00000395896.4_Missense_Mutation_p.R1238C	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1238					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						ATGGAAACACGAAAACTCCTC	0.458000													19	43					0	0	0.00074312	0	0
IVL	3713	broad.mit.edu	37	1	152883861	152883861	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:152883861C>T	ENST00000368764.3	+	2	1652	c.1588C>T	c.(1588-1590)Ctg>Ttg	p.L530L	IVL_ENST00000392667.2_Silent_p.L384L			P07476	INVO_HUMAN	involucrin	530	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ggaggggcagctgaaggacct	0.597000													15	13					0	0	0.00244969	0	0
ATG4B	23192	broad.mit.edu	37	2	242610752	242610752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:242610752C>T	ENST00000405546.3	+	12	1542	c.1040C>T	c.(1039-1041)cCc>cTc	p.P347L	ATG4B_ENST00000474739.2_Missense_Mutation_p.P333L|ATG4B_ENST00000396411.3_Missense_Mutation_p.P273L|ATG4B_ENST00000402096.1_Missense_Mutation_p.P273L|ATG4B_ENST00000404914.3_Missense_Mutation_p.P347L			Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	347					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		GGTGCCCTGCCCATGTTTGAG	0.627000													6	19					0	0	0.00198382	0	0
NOX4	50507	broad.mit.edu	37	11	89135579	89135579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:89135579C>T	ENST00000535633.1	-	9	999	c.689G>A	c.(688-690)gGa>gAa	p.G230E	NOX4_ENST00000263317.4_Missense_Mutation_p.G254E|NOX4_ENST00000532825.1_Missense_Mutation_p.G230E|NOX4_ENST00000343727.5_Missense_Mutation_p.G230E|NOX4_ENST00000527956.1_Missense_Mutation_p.G230E|NOX4_ENST00000528341.1_Missense_Mutation_p.G229E|NOX4_ENST00000542487.1_Missense_Mutation_p.G230E|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000424319.1_Missense_Mutation_p.G230E|NOX4_ENST00000527626.1_Missense_Mutation_p.G88E|NOX4_ENST00000534731.1_Missense_Mutation_p.G254E|NOX4_ENST00000413594.2_Missense_Mutation_p.G275E|NOX4_ENST00000375979.3_Intron	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	254	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TTTTGAAAATCCTTCAGGGAA	0.423000													22	27					0	0	0.00278032	0	0
NUAK1	9891	broad.mit.edu	37	12	106460902	106460902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:106460902C>T	ENST00000261402.2	-	7	3043	c.1664G>A	c.(1663-1665)gGt>gAt	p.G555D		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	555							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GGCAGGGACACCAGGCTCTGA	0.587000													29	19					0	0	0.0024448	0	0
DUSP10	11221	broad.mit.edu	37	1	221913008	221913008	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:221913008A>C	ENST00000366899.3	-	2	317	c.79T>G	c.(79-81)Tta>Gta	p.L27V	DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	27					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CTAGAGTCTAAACAAAGGTTG	0.542000													31	147					0	0	0.000692331	0	0
INSL6	11172	broad.mit.edu	37	9	5164164	5164164	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:5164164A>T	ENST00000381641.3	-	2	456	c.391T>A	c.(391-393)Ttt>Att	p.F131I	INSL6_ENST00000510407.1_Intron	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	131						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		GATGAAGAAAATTCTCTTGTC	0.338000													26	4					0	0	0.000586117	0	0
AGAP1	116987	broad.mit.edu	37	2	236957795	236957795	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:236957795C>T	ENST00000409538.1	+	15	3116	c.2620C>T	c.(2620-2622)Cga>Tga	p.R874*	AGAP1_ENST00000428334.2_Nonsense_Mutation_p.R501*|AGAP1_ENST00000304032.7_Nonsense_Mutation_p.R662*|AGAP1_ENST00000336665.5_Nonsense_Mutation_p.R609*			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	662					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TTCCCGAGTCCGATCTCTGGA	0.577000													26	76					0	0	0.00178596	0	0
GHITM	27069	broad.mit.edu	37	10	85901294	85901294	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:85901294C>G	ENST00000372134.3	+	2	231	c.38C>G	c.(37-39)cCt>cGt	p.P13R		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	13					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CGGACACTACCTTCTAGGGTT	0.483000													12	22					0	0	0.00185496	0	0
LBH	81606	broad.mit.edu	37	2	30480424	30480424	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:30480424C>T	ENST00000395323.3	+	3	463	c.255C>T	c.(253-255)ttC>ttT	p.F85F	LBH_ENST00000404397.1_Intron|LBH_ENST00000407930.2_Silent_p.F68F|LBH_ENST00000406087.1_3'UTR|LBH_ENST00000401506.1_Silent_p.F91F|LBH_ENST00000467242.1_3'UTR	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	85					multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					CTGAGGAGTTCCTGGTCCAGG	0.577000													16	55					0	0	0.000566183	0	0
STAB2	55576	broad.mit.edu	37	12	103984744	103984744	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:103984744G>A	ENST00000388887.2	+	2	355	c.151G>A	c.(151-153)Gga>Aga	p.G51R		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	51					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						TCTCAACCTTGGAGTCAAGTG	0.423000													36	24					0	0	0.00128727	0	0
SPATA6	54558	broad.mit.edu	37	1	48764525	48764525	+	Missense_Mutation	SNP	C	C	T	rs147329302	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:48764525C>T	ENST00000371847.3	-	13	1491	c.1327G>A	c.(1327-1329)Ggt>Agt	p.G443S	SPATA6_ENST00000396199.3_Missense_Mutation_p.G371S|SPATA6_ENST00000371843.3_Missense_Mutation_p.G427S	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	443					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CAGTATTCACCGTCATCCAAA	0.398000													24	89					0	0	0.00047179	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156526	70156526	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:70156526C>T	ENST00000335568.5	+	5	1309	c.1307C>T	c.(1306-1308)cCt>cTt	p.P436L	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	436					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	ATTAATGATCCTTCGTGAGTA	0.398000													9	5					0	0	0.000442599	0	0
CNTN4	152330	broad.mit.edu	37	3	2942488	2942488	+	Missense_Mutation	SNP	G	G	A	rs145270510	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:2942488G>A	ENST00000397461.1	+	10	1444	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	CNTN4_ENST00000358480.3_Missense_Mutation_p.E135K|CNTN4_ENST00000418658.1_Missense_Mutation_p.E354K|CNTN4_ENST00000397459.2_Missense_Mutation_p.E26K|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000448906.2_Missense_Mutation_p.E26K|CNTN4_ENST00000427331.1_Missense_Mutation_p.E354K	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	354	Ig-like C2-type 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAAAAATGGCGAACCTCTGCT	0.398000													14	55					0	0	0.00244969	0	0
TNNI1	7135	broad.mit.edu	37	1	201384368	201384368	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:201384368G>A	ENST00000361379.4	-	4	122	c.30C>T	c.(28-30)atC>atT	p.I10I	TNNI1_ENST00000336092.4_Silent_p.I10I|TNNI1_ENST00000367312.1_Silent_p.I10I|TNNI1_ENST00000555948.1_Silent_p.I10I	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	10	Involved in binding TNC.				muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						GGGAGGCAGTGATCTTGGGTT	0.587000													9	46					0	0	0.000442599	0	0
SFI1	9814	broad.mit.edu	37	22	32009473	32009473	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:32009473T>C	ENST00000432498.1	+	25	2999	c.2606T>C	c.(2605-2607)aTg>aCg	p.M869T	SFI1_ENST00000400289.1_Missense_Mutation_p.M818T|SFI1_ENST00000443326.1_Missense_Mutation_p.M818T|SFI1_ENST00000540643.1_Missense_Mutation_p.M845T|SFI1_ENST00000443011.1_Missense_Mutation_p.M747T|SFI1_ENST00000400288.2_Missense_Mutation_p.M900T|SFI1_ENST00000414585.1_Missense_Mutation_p.M747T	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	900					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GCAGCCAGCATGAAGGCCTCC	0.692000													5	25					0	0	0.000157383	0	0
COL15A1	1306	broad.mit.edu	37	9	101824273	101824273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:101824273G>A	ENST00000375001.3	+	37	3846	c.3423G>A	c.(3421-3423)atG>atA	p.M1141I		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1141	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCAGCAACATGGATGACATGC	0.423000													75	67					0	0	0.000781405	0	0
ANKRD12	23253	broad.mit.edu	37	18	9255124	9255124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:9255124C>T	ENST00000383440.2	+	8	2047	c.1790C>T	c.(1789-1791)tCa>tTa	p.S597L	ANKRD12_ENST00000400020.3_Missense_Mutation_p.S597L|ANKRD12_ENST00000262126.3_Missense_Mutation_p.S620L	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	620						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						GGTGAAAAATCAAATGCCAAA	0.294000													44	76					0	0	0.00285205	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140723605	140723605	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140723605C>T	ENST00000253812.6	+	1	5	c.5C>T	c.(4-6)aCc>aTc	p.T2I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGAAATGACCAATTGCCTG	0.522000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	57	137					0	0	0.000781405	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561420	11561420	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:11561420T>C	ENST00000294484.6	+	2	509	c.371T>C	c.(370-372)cTg>cCg	p.L124P	PTCHD2_ENST00000389575.3_Missense_Mutation_p.L124P	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	124					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCTCTCACTCTGGCGCTTAAG	0.572000													8	57					0	0	0.000274275	0	0
GP2	2813	broad.mit.edu	37	16	20335551	20335551	+	Missense_Mutation	SNP	G	G	A	rs140222432		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:20335551G>A	ENST00000302555.5	-	3	271	c.122C>T	c.(121-123)tCg>tTg	p.S41L	GP2_ENST00000341642.5_Intron|GP2_ENST00000381360.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.S41L			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	41						anchored to membrane|extracellular region|plasma membrane		p.S41L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGCCCATACGAACTGGCTTC	0.532000													15	36					0	0	0.000566183	0	0
LTBR	4055	broad.mit.edu	37	12	6499962	6499962	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:6499962C>T	ENST00000228918.4	+	10	1493	c.1167C>T	c.(1165-1167)ccC>ccT	p.P389P	LTBR_ENST00000541102.1_Silent_p.P246P|LTBR_ENST00000539925.1_Silent_p.P370P	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	389					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						ACCCCATTCCCGAAGAGGGGG	0.617000													28	46					0	0	0.000878237	0	0
FAM71C	196472	broad.mit.edu	37	12	100043168	100043168	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:100043168G>A	ENST00000324341.1	+	2	1140	c.718G>A	c.(718-720)Gag>Aag	p.E240K	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	240										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		TTATACAATAGAGATATGAAT	0.413000													32	90					0	0	0.00058488	0	0
THSD7B	80731	broad.mit.edu	37	2	138413132	138413132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:138413132C>T	ENST00000409968.1	+	22	4185	c.4007C>T	c.(4006-4008)tCa>tTa	p.S1336L	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.S1339L|THSD7B_ENST00000413152.2_Missense_Mutation_p.S1308L					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CACAGTGGTTCAATATCTCAT	0.507000													6	11					0	0	0.00198382	0	0
TICAM1	148022	broad.mit.edu	37	19	4816467	4816467	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:4816467G>A	ENST00000248244.5	-	2	2152	c.1923C>T	c.(1921-1923)ccC>ccT	p.P641P		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	641	Pro-rich.|Sufficient to induce apoptosis.			Missing (in Ref. 6; AAO85488).	apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AGGGCGGTGGGGGGGTGCCAG	0.731000													5	16					0	0	0.000602214	0	0
TTN	7273	broad.mit.edu	37	2	179466271	179466271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179466271C>T	ENST00000589042.1	-	287	55677	c.55453G>A	c.(55453-55455)Gat>Aat	p.D18485N	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D16844N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D9545N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D9612N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D15917N|TTN_ENST00000460472.2_Missense_Mutation_p.D9420N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16844	Ig-like 106.						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)			ACTTTCAGATCTTTGGGTGGG	0.388000													21	61					0	0	0.00278032	0	0
FOXO3	2309	broad.mit.edu	37	6	108984964	108984964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:108984964C>T	ENST00000406360.1	+	2	1271	c.928C>T	c.(928-930)Cgt>Tgt	p.R310C	FOXO3_ENST00000343882.6_Missense_Mutation_p.R310C|FOXO3_ENST00000540898.1_Missense_Mutation_p.R90C	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	310				PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860).	antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|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 factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GACGGACTTCCGTTCACGCAC	0.607000													7	8					0	0	0.00198382	0	0
MAPKAPK2	9261	broad.mit.edu	37	1	206905044	206905044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:206905044G>A	ENST00000367103.3	+	8	1145	c.952G>A	c.(952-954)Gag>Aag	p.E318K	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.E318K|MAPKAPK2_ENST00000479009.1_3'UTR	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	318	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GACCATCACCGAGTTTATGAA	0.562000													46	192					0	0	0.000781405	0	0
RABL3	285282	broad.mit.edu	37	3	120449619	120449619	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:120449619G>A	ENST00000273375.3	-	2	91	c.62C>T	c.(61-63)tCg>tTg	p.S21L	RABL3_ENST00000483733.1_Missense_Mutation_p.S21L|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	21	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		ATGGACTAACGAAGATTTCCC	0.398000													12	50					0	0	0.00244969	0	0
AAAS	8086	broad.mit.edu	37	12	53708084	53708084	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:53708084G>A	ENST00000209873.4	-	7	852	c.687C>T	c.(685-687)acC>acT	p.T229T	AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000550286.1_Silent_p.T105T|AAAS_ENST00000394384.3_Silent_p.T196T	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	229					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GGACTTACCGGGTAGACAAGG	0.562000													44	108					0	0	0.000781405	0	0
ZNF418	147686	broad.mit.edu	37	19	58437893	58437893	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:58437893G>A	ENST00000396147.1	-	4	1947	c.1656C>T	c.(1654-1656)tcC>tcT	p.S552S	ZNF418_ENST00000599852.1_Silent_p.S467S|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Silent_p.S573S|ZNF418_ENST00000595830.1_Silent_p.S552S	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GTCGAAGGAGGGAAGAGCTCT	0.453000													24	82					0	0	0.00106085	0	0
NFRKB	4798	broad.mit.edu	37	11	129751382	129751382	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:129751382G>A	ENST00000446488.3	-	12	1443	c.1340C>T	c.(1339-1341)cCa>cTa	p.P447L	NFRKB_ENST00000524746.1_Missense_Mutation_p.P447L|NFRKB_ENST00000304521.5_Missense_Mutation_p.P447L|NFRKB_ENST00000524794.1_Missense_Mutation_p.P472L	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	447					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TTCAACAAATGGAGAGAAACT	0.453000											OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	22					0	0	0.000958276	0	0
ZNF536	9745	broad.mit.edu	37	19	31039511	31039511	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:31039511G>A	ENST00000355537.3	+	4	3132	c.2985G>A	c.(2983-2985)caG>caA	p.Q995Q		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	995					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TAACTGTGCAGGACAGCATTG	0.582000													28	79					0	0	0.000720815	0	0
FRMD3	257019	broad.mit.edu	37	9	85926816	85926816	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:85926816G>A	ENST00000304195.3	-	8	965	c.759C>T	c.(757-759)atC>atT	p.I253I	FRMD3_ENST00000376434.1_Silent_p.I59I|FRMD3_ENST00000376438.1_Silent_p.I253I	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	253	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TTATCAAATGGATTCTCTTAT	0.393000													15	49					0	0	0.00074312	0	0
DNAH3	55567	broad.mit.edu	37	16	20946786	20946786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:20946786G>A	ENST00000261383.3	-	61	11880	c.11881C>T	c.(11881-11883)Cct>Tct	p.P3961S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3961					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AATACCACAGGGGGCCCCTTG	0.418000													13	17					0	0	0.00185496	0	0
OR4C13	283092	broad.mit.edu	37	11	49974850	49974850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:49974850G>A	ENST00000555099.1	+	1	908	c.876G>A	c.(874-876)atG>atA	p.M292I		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATGCTCAAATGAAAAATGCCA	0.383000													6	16					0	0	0.00116845	0	0
ZBTB43	23099	broad.mit.edu	37	9	129594916	129594916	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:129594916T>A	ENST00000373464.4	+	3	392	c.128T>A	c.(127-129)aTt>aAt	p.I43N	ZBTB43_ENST00000373457.1_Missense_Mutation_p.I43N|ZBTB43_ENST00000449886.1_Missense_Mutation_p.I43N	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	43	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CAAGGCCACATTTTCCGGGCA	0.468000													13	53					0	0	0.00136819	0	0
LRRC31	79782	broad.mit.edu	37	3	169578450	169578450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:169578450C>T	ENST00000316428.5	-	3	443	c.386G>A	c.(385-387)gGa>gAa	p.G129E	LRRC31_ENST00000523069.1_Missense_Mutation_p.G129E|LRRC31_ENST00000264676.5_Intron|LRRC31_ENST00000397805.2_5'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	129										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			AAGGAGGGTTCCACCTACAAA	0.453000													51	40					0	0	0.000781405	0	0
CTNND2	1501	broad.mit.edu	37	5	11159724	11159724	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:11159724G>A	ENST00000304623.8	-	12	2312	c.2123C>T	c.(2122-2124)tCa>tTa	p.S708L	CTNND2_ENST00000503622.1_Missense_Mutation_p.S371L|CTNND2_ENST00000359640.2_Missense_Mutation_p.S708L|CTNND2_ENST00000511377.1_Missense_Mutation_p.S617L|CTNND2_ENST00000458100.2_Missense_Mutation_p.S275L|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	708					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CACCTGTGATGAATGCAGCTG	0.557000													48	33					0	0	0.000781405	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84582012	84582012	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:84582012A>C	ENST00000286744.5	+	16	2093	c.1869A>C	c.(1867-1869)gaA>gaC	p.E623D	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E623D	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	623	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCCTCCTGGAAGCATGTGATG	0.612000													13	5					0	0	0.00136819	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	A	rs11554290		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:115256529T>A	ENST00000369535.4	-	3	435	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			202	93					0	0	0.000781405	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870703	51870703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:51870703G>A	ENST00000371497.5	+	2	1593	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	TSHZ2_ENST00000329613.6_Missense_Mutation_p.E233K|TSHZ2_ENST00000603338.2_Missense_Mutation_p.E233K	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	236					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCACATGAATGAAACGGGCCA	0.532000													11	43					0	0	0.000978159	0	0
ELAC2	60528	broad.mit.edu	37	17	12899106	12899106	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:12899106G>A	ENST00000338034.4	-	19	1961	c.1722C>T	c.(1720-1722)caC>caT	p.H574H	ELAC2_ENST00000395962.2_Silent_p.H555H|ELAC2_ENST00000426905.3_Silent_p.H534H	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	574					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CCAGCAAAGGGTGAAGCGGCT	0.552000													5	10					0	0	0.00116845	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117969729	117969729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:117969729C>T	ENST00000534111.1	+	3	332	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	TMPRSS4_ENST00000437212.3_Missense_Mutation_p.P25S|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.P25S|TMPRSS4_ENST00000523251.1_Intron|TMPRSS4_ENST00000522307.1_5'UTR	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	25					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		ACCCCGTATCCCCATGGAGAC	0.537000													22	24					0	0	0.00278032	0	0
TTN	7273	broad.mit.edu	37	2	179605087	179605087	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179605087G>A	ENST00000589042.1	-	48	13097	c.12873C>T	c.(12871-12873)gtC>gtT	p.V4291V	TTN_ENST00000591111.1_Silent_p.V3974V|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Silent_p.V4053V|TTN_ENST00000342175.6_Silent_p.V4120V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Silent_p.V3928V|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3974	Ig-like 23.		I -> T (in a colorectal adenocarcinoma sample; somatic mutation).				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)			GTTCTGAAGGGACTAGGGGCT	0.468000													11	13					0	0	0.000673444	0	0
HCLS1	3059	broad.mit.edu	37	3	121350806	121350806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:121350806C>T	ENST00000314583.3	-	14	1439	c.1348G>A	c.(1348-1350)Gat>Aat	p.D450N	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.D413N	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	450	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TCGTCCGGATCAAAGGAAAGC	0.493000													76	44					0	0	0.000781405	0	0
INSC	387755	broad.mit.edu	37	11	15212315	15212315	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:15212315C>T	ENST00000379554.3	+	6	835	c.789C>T	c.(787-789)ttC>ttT	p.F263F	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000530161.1_Silent_p.F216F|INSC_ENST00000379556.3_Silent_p.F216F|INSC_ENST00000528567.1_Silent_p.F216F|INSC_ENST00000525218.1_Silent_p.F216F|INSC_ENST00000424273.1_Silent_p.F216F	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	263					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GGAACCTGTTCAGCCTGACCC	0.507000													34	42					0	0	0.00170553	0	0
TFAP2D	83741	broad.mit.edu	37	6	50696616	50696616	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:50696616G>A	ENST00000008391.3	+	4	874	c.646G>A	c.(646-648)Ggc>Agc	p.G216S	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	216							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CTCTGTCCCTGGCCGTTTGTC	0.468000													23	13					0	0	0.000586117	0	0
OR52A1	23538	broad.mit.edu	37	11	5172912	5172912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:5172912G>A	ENST00000380367.1	-	2	1105	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	OR52A1_ENST00000328942.1_Missense_Mutation_p.R230C			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	230					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGCAAACGAAAAACTGTG	0.423000													13	20					0	0	0.00185496	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736325	12736325	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:12736325A>T	ENST00000380682.1	+	16	3886	c.3380A>T	c.(3379-3381)gAa>gTa	p.E1127V		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1127					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGGGAGGCCGAAGGGAAGGAA	0.527000													70	107					0	0	0.000781405	0	0
LRP2	4036	broad.mit.edu	37	2	170099481	170099481	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:170099481C>T	ENST00000263816.3	-	24	3937	c.3652G>A	c.(3652-3654)Gat>Aat	p.D1218N	LRP2_ENST00000443831.1_Missense_Mutation_p.D1081N	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1218	LDL-receptor class A 12.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCTGCTTCATCCGAGTTGTCA	0.398000													33	119					0	0	0.00283554	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471516	61471516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:61471516C>T	ENST00000398019.2	+	8	1115	c.790C>T	c.(790-792)Cca>Tca	p.P264S	SERPINB7_ENST00000540675.1_Missense_Mutation_p.P247S|SERPINB7_ENST00000546027.1_Missense_Mutation_p.P264S|SERPINB7_ENST00000336429.2_Missense_Mutation_p.P264S	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	264					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				ATGGACCAATCCAAGGCGAAT	0.328000													16	19					0	0	0.000422831	0	0
SCN2A	6326	broad.mit.edu	37	2	166172168	166172168	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:166172168G>A	ENST00000375437.2	+	11	1861	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q	SCN2A_ENST00000283256.6_Missense_Mutation_p.R524Q|SCN2A_ENST00000375427.2_Missense_Mutation_p.R524Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.R524Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	524			R -> Q.	R -> L (in Ref. 1; AAA18895).	myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GACAGAGTCCGAAAATCGGAA	0.378000													20	56					0	0	0.00121646	0	0
ARMC9	80210	broad.mit.edu	37	2	232104718	232104718	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:232104718C>T	ENST00000349938.4	+	9	1037	c.843C>T	c.(841-843)agC>agT	p.S281S	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	281							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TGCGGCAGAGCCTGGCGCATA	0.557000													11	11					0	0	0.000978159	0	0
DNAH5	1767	broad.mit.edu	37	5	13719030	13719030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:13719030G>A	ENST00000265104.4	-	72	12564	c.12460C>T	c.(12460-12462)Cca>Tca	p.P4154S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4154	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGTCCTTGTGGAGGATCGTTG	0.448000									Kartagener syndrome				11	62					0	0	0.00185496	0	0
KCNH8	131096	broad.mit.edu	37	3	19554559	19554559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:19554559C>T	ENST00000328405.2	+	13	2443	c.2177C>T	c.(2176-2178)tCc>tTc	p.S726F		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	726						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						gaggCAGTCTCCCTCTCTCCC	0.532000													4	11					0	0	0.00024832	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890501	23890501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:23890501G>A	ENST00000532292.1	-	1	674	c.580C>T	c.(580-582)Cag>Tag	p.Q194*		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GAGGCAGGCTGAAACTGGGAG	0.582000													14	63					0	0	0.000958276	0	0
ABCG2	9429	broad.mit.edu	37	4	89039399	89039399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:89039399C>T	ENST00000237612.3	-	7	1248	c.703G>A	c.(703-705)Gga>Aga	p.G235R	ABCG2_ENST00000515655.1_Missense_Mutation_p.G235R	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	235	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	ATTGTTCGTCCCTGCTTAGAC	0.373000													18	41					0	0	0.00278032	0	0
COL4A4	1286	broad.mit.edu	37	2	227915743	227915743	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:227915743A>G	ENST00000396625.3	-	33	3307	c.3100T>C	c.(3100-3102)Tca>Cca	p.S1034P	COL4A4_ENST00000329662.7_Missense_Mutation_p.S1034P	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1034	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGACCAGTTGAGCCTGGAGGG	0.552000													20	88					0	0	0.00152264	0	0
KCND1	3750	broad.mit.edu	37	X	48826440	48826440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:48826440C>T	ENST00000218176.3	-	1	1536	c.239G>A	c.(238-240)gGc>gAc	p.G80D		NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	80						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						GAAGTACTCGCCTGAGTCAGC	0.587000													6	14					0	0	0.000157383	0	0
OGFOD3	79701	broad.mit.edu	37	17	80373320	80373320	+	Silent	SNP	G	G	A	rs145904574		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:80373320G>A	ENST00000313056.5	-	2	409	c.258C>T	c.(256-258)atC>atT	p.I86I	OGFOD3_ENST00000329197.5_Silent_p.I86I	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3			2-oxoglutarate and iron-dependent oxygenase domain containing 3																		AGGGCACCTCGATGAATCTCC	0.582000													52	155					0	0	0.000781405	0	0
PRSS1	5644	broad.mit.edu	37	7	142460771	142460771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:142460771C>T	ENST00000486171.1	+	6	703	c.686C>T	c.(685-687)tCc>tTc	p.S229F	PRSS1_ENST00000311737.7_Missense_Mutation_p.S215F			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	215	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GGAGTTGTCTCCTGGGGTGAT	0.502000													20	98					0	0	0.00188189	0	0
ZNF665	79788	broad.mit.edu	37	19	53668809	53668809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:53668809G>A	ENST00000600412.1	-	2	854	c.739C>T	c.(739-741)Cat>Tat	p.H247Y	ZNF665_ENST00000396424.3_Missense_Mutation_p.H312Y			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TCCCCAGTATGAATTCTTCGA	0.433000													42	167					0	0	0.000781405	0	0
GRM1	2911	broad.mit.edu	37	6	146350696	146350696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:146350696G>A	ENST00000392299.2	+	2	513	c.43G>A	c.(43-45)Gag>Aag	p.E15K	GRM1_ENST00000507907.1_Missense_Mutation_p.E15K|GRM1_ENST00000282753.1_Missense_Mutation_p.E15K|GRM1_ENST00000492807.2_Missense_Mutation_p.E15K|GRM1_ENST00000361719.2_Missense_Mutation_p.E15K|GRM1_ENST00000355289.4_Missense_Mutation_p.E15K			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	15					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GATCTTTTTGGAGGTGTCCCT	0.602000													44	72					0	0	0.000781405	0	0
CHD9	80205	broad.mit.edu	37	16	53357974	53357974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:53357974C>T	ENST00000566029.1	+	39	8022	c.7813C>T	c.(7813-7815)Ccc>Tcc	p.P2605S	CHD9_ENST00000398510.3_Missense_Mutation_p.P2621S|CHD9_ENST00000447540.1_Missense_Mutation_p.P2606S|CHD9_ENST00000564845.1_Missense_Mutation_p.P2605S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2621					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCTCACTGGTCCCGTTGTGAG	0.433000													29	74					0	0	0.00058488	0	0
BICD2	23299	broad.mit.edu	37	9	95481688	95481688	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:95481688C>T	ENST00000356884.6	-	5	1306	c.1239G>A	c.(1237-1239)gaG>gaA	p.E413E	BICD2_ENST00000375512.3_Silent_p.E413E	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	413					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CACGGTCCTTCTCGTTGTCCA	0.607000													11	57					0	0	0.000978159	0	0
CHRNB3	1142	broad.mit.edu	37	8	42591761	42591761	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:42591761G>A	ENST00000289957.2	+	6	1505	c.1377G>A	c.(1375-1377)taG>taA	p.*459*		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	0					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTTACCATTAGGAATTTAAAA	0.413000													37	52					0	0	0.00170553	0	0
SORBS2	8470	broad.mit.edu	37	4	186545032	186545032	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:186545032G>A	ENST00000431808.1	-	14	2102	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	SORBS2_ENST00000284776.7_Silent_p.F513F|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Silent_p.F613F|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Silent_p.F417F			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	513						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCAGCTTTTCGAATTCGGAGA	0.572000													26	59					0	0	0.00106085	0	0
RPL28	6158	broad.mit.edu	37	19	55899332	55899332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:55899332C>T	ENST00000558131.1	+	3	229	c.221C>T	c.(220-222)cCa>cTa	p.P74L	RPL28_ENST00000458349.2_Silent_p.T80T|RPL28_ENST00000558815.1_Silent_p.T80T|RPL28_ENST00000560055.1_Silent_p.T80T|RPL28_ENST00000344063.2_Silent_p.T80T|RPL28_ENST00000560583.1_Silent_p.T80T|RPL28_ENST00000559463.1_Silent_p.T80T			P46779	RL28_HUMAN	ribosomal protein L28	0					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		ATGTGCGGACCACCATCAACA	0.612000													81	68					0	0	0.000781405	0	0
PIK3CA	5290	broad.mit.edu	37	3	178947158	178947158	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:178947158G>A	ENST00000263967.3	+	18	2751	c.2594G>A	c.(2593-2595)gGc>gAc	p.G865D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	865	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGCAAAGGCGGCTTGAAAGGT	0.423000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	14					0	0	0.000157383	0	0
POLR2B	5431	broad.mit.edu	37	4	57860961	57860961	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:57860961C>A	ENST00000381227.1	+	6	918	c.505C>A	c.(505-507)Cgt>Agt	p.R169S	POLR2B_ENST00000314595.5_Missense_Mutation_p.R169S|POLR2B_ENST00000431623.2_Missense_Mutation_p.R94S|POLR2B_ENST00000441246.2_Missense_Mutation_p.R162S			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	169					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CTTGACAGATCGTGATCTTTG	0.338000													33	35					4.32679e-17	1.5983e-16	0.00148497	1	0
CACNA1H	8912	broad.mit.edu	37	16	1270807	1270807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:1270807C>T	ENST00000348261.5	+	35	7123	c.6875C>T	c.(6874-6876)tCc>tTc	p.S2292F	CACNA1H_ENST00000358590.4_Missense_Mutation_p.S2286F|CACNA1H_ENST00000565831.1_Missense_Mutation_p.S2286F	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2292					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ACCCCAGAATCCAGAGCTTCC	0.637000													40	25					0	0	0.00128727	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050037	42050037	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:42050037G>A	ENST00000372584.1	-	3	1446	c.432C>T	c.(430-432)ctC>ctT	p.L144L	HIVEP3_ENST00000429157.2_Silent_p.L144L|HIVEP3_ENST00000372583.1_Silent_p.L144L|HIVEP3_ENST00000247584.5_Silent_p.L144L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	144					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGAAGGAAGGAGCTGGCTCT	0.612000													72	75					0	0	0.000781405	0	0
NF1	4763	broad.mit.edu	37	17	29562966	29562966	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:29562966C>T	ENST00000358273.4	+	29	4284	c.3901C>T	c.(3901-3903)Ctg>Ttg	p.L1301L	NF1_ENST00000356175.3_Silent_p.L1301L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1301	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACAAAAACTCCTGGATCCTTT	0.378000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			34	81					0	0	0.000814825	0	0
SRPX2	27286	broad.mit.edu	37	X	99922337	99922337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:99922337G>A	ENST00000373004.3	+	9	1456	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	343					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GAGAAACAGCGACTCCTCATC	0.478000													27	32					0	0	0.00178596	0	0
SLC2A11	66035	broad.mit.edu	37	22	24219284	24219284	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:24219284C>T	ENST00000345044.6	+	5	730	c.462C>T	c.(460-462)ctC>ctT	p.L154L	SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000316185.8_Silent_p.L157L|AP000350.10_ENST00000433835.3_Silent_p.L119L|SLC2A11_ENST00000405847.1_Silent_p.L154L|SLC2A11_ENST00000398356.2_Silent_p.L161L			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	154						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						CTAAGGAGCTCCGAGGAGCTG	0.617000													65	19					0	0	0.000781405	0	0
OR4E2	26686	broad.mit.edu	37	14	22134146	22134146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:22134146C>T	ENST00000408935.1	+	1	850	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	284					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)		TTTGCTGAATCCCTTCATTTA	0.448000													9	20					0	0	0.000274275	0	0
KCTD19	146212	broad.mit.edu	37	16	67337157	67337157	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:67337157G>A	ENST00000304372.5	-	4	590	c.535C>T	c.(535-537)Cta>Tta	p.L179L	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	179						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ACCAGGTCTAGGGGCAGGAAG	0.572000													10	30					0	0	0.000673444	0	0
AGXT	189	broad.mit.edu	37	2	241808596	241808596	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:241808596G>A	ENST00000307503.3	+	2	562	c.175G>A	c.(175-177)Gag>Aag	p.E59K		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	59					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GATCATGGACGAGATCAAGGA	0.617000													16	42					0	0	0.000566183	0	0
KIAA1161	57462	broad.mit.edu	37	9	34372144	34372144	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:34372144G>A	ENST00000297625.7	-	2	921	c.696C>T	c.(694-696)ccC>ccT	p.P232P		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	266					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GTGGCTTGTAGGGCGTGTCGT	0.667000													12	24					0	0	0.000308642	0	0
MMP27	64066	broad.mit.edu	37	11	102573820	102573820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:102573820C>T	ENST00000260229.4	-	3	462	c.371G>A	c.(370-372)cGa>cAa	p.R124Q		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	124					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CACAGCAGCTCGTGCCATATC	0.358000													31	24					0	0	0.00058488	0	0
SPINK6	404203	broad.mit.edu	37	5	147585614	147585614	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:147585614G>A	ENST00000325630.2	+	2	330	c.74G>A	c.(73-75)gGa>gAa	p.G25E		NM_001195290.1|NM_205841.3	NP_001182219.1|NP_995313.2	Q6UWN8	ISK6_HUMAN	serine peptidase inhibitor, Kazal type 6	25	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAGTCAGGGAGGACAGGTC	0.388000													78	44					0	0	0.000781405	0	0
RIPK4	54101	broad.mit.edu	37	21	43164098	43164098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:43164098G>A	ENST00000352483.2	-	8	1347	c.1283C>T	c.(1282-1284)gCc>gTc	p.A428V	RIPK4_ENST00000332512.3_Missense_Mutation_p.A380V|RIPK4_ENST00000544709.1_Missense_Mutation_p.A317V|RIPK4_ENST00000542057.1_Missense_Mutation_p.A317V			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	380						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGAAGAGAAGGCGGAGTCCAC	0.647000													20	41					0	0	0.00121646	0	0
EIF3A	8661	broad.mit.edu	37	10	120801560	120801560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:120801560G>A	ENST00000369144.3	-	19	3599	c.3472C>T	c.(3472-3474)Ccc>Tcc	p.P1158S	EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.P1124S	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1158	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CCCCGTCTGGGAAACCGATCA	0.473000													20	74					0	0	0.00152264	0	0
ACKR3	57007	broad.mit.edu	37	2	237489786	237489786	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:237489786C>T	ENST00000272928.3	+	2	988	c.678C>T	c.(676-678)tcC>tcT	p.S226S		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		TTCCCTTCTCCATTATCGCTG	0.577000													29	85					0	0	0.00127121	0	0
CD209	30835	broad.mit.edu	37	19	7809832	7809832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:7809832C>T	ENST00000315599.7	-	5	917	c.895G>A	c.(895-897)Gag>Aag	p.E299K	CD209_ENST00000601951.1_Missense_Mutation_p.E275K|CD209_ENST00000593660.1_Missense_Mutation_p.E229K|CD209_ENST00000602261.1_Missense_Mutation_p.E207K|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Missense_Mutation_p.E138K|CD209_ENST00000354397.6_Missense_Mutation_p.E299K|CD209_ENST00000301357.8_Missense_Mutation_p.E163K|CD209_ENST00000601256.1_Missense_Mutation_p.E275K|CD209_ENST00000204801.8_Missense_Mutation_p.E255K|CD209_ENST00000315591.8_Missense_Mutation_p.E275K|CD209_ENST00000593821.1_Missense_Mutation_p.E163K	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	299	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGTACCTGCTCCTCAGCACTT	0.572000													19	48					0	0	0.00121646	0	0
ANKK1	255239	broad.mit.edu	37	11	113270750	113270750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:113270750G>A	ENST00000303941.3	+	8	2153	c.2059G>A	c.(2059-2061)Gcc>Acc	p.A687T		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	687							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AAATGTCCACGCCCGCAACAA	0.632000													17	14					0	0	0.000958276	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72152246	72152246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:72152246C>T	ENST00000555818.1	+	10	3620	c.3272C>T	c.(3271-3273)tCg>tTg	p.S1091L	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S566L|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1091L|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1091L	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1091					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCCATGACCTCGCGGCTGAAT	0.562000													10	35					0	0	0.000442599	0	0
FOXN2	3344	broad.mit.edu	37	2	48573792	48573792	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:48573792C>T	ENST00000340553.3	+	3	700	c.439C>T	c.(439-441)Cca>Tca	p.P147S		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	147					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|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			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			GGACCATTTTCCATATTTTGC	0.393000													68	93					0	0	0.000781405	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698566	96698566	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:96698566C>T	ENST00000260682.6	+	1	139	c.127C>T	c.(127-129)Cta>Tta	p.L43L	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	43					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TGGAAATATCCTACAGATAGG	0.433000													18	30					0	0	0.00152264	0	0
RAB35	11021	broad.mit.edu	37	12	120536902	120536902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:120536902G>A	ENST00000229340.5	-	4	472	c.284C>T	c.(283-285)tCc>tTc	p.S95F	RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000534951.1_Missense_Mutation_p.S95F	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	95					cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		GTTGACAAAGGACTCGGCACT	0.577000													15	48					0	0	0.000308642	0	0
SYT17	51760	broad.mit.edu	37	16	19236082	19236082	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:19236082A>G	ENST00000562034.1	+	5	4765	c.967A>G	c.(967-969)Att>Gtt	p.I323V	SYT17_ENST00000568115.1_Missense_Mutation_p.I323V|SYT17_ENST00000568433.1_Missense_Mutation_p.I78V|SYT17_ENST00000562711.2_Missense_Mutation_p.I380V|SYT17_ENST00000355377.2_Missense_Mutation_p.I384V			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	384	C2 2.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						AAGGGGCACAATTGATCCTTT	0.433000													28	60					0	0	0.00127121	0	0
SORCS1	114815	broad.mit.edu	37	10	108357117	108357117	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:108357117A>G	ENST00000263054.6	-	24	3264	c.3257T>C	c.(3256-3258)tTa>tCa	p.L1086S	SORCS1_ENST00000369698.1_Missense_Mutation_p.L621S|SORCS1_ENST00000344440.6_Missense_Mutation_p.L1086S	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1086						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACCCGCTGTTAAGTGAGCAGC	0.502000													14	14					0	0	0.00074312	0	0
PIAS3	10401	broad.mit.edu	37	1	145581490	145581490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:145581490G>A	ENST00000393045.2	+	9	1161	c.1071G>A	c.(1069-1071)atG>atA	p.M357I	PIAS3_ENST00000369298.1_Missense_Mutation_p.M322I	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	357					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATCTACAGATGAATGAGAAGA	0.512000													108	81					0	0	0.000781405	0	0
SMC2	10592	broad.mit.edu	37	9	106876340	106876340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:106876340C>T	ENST00000286398.7	+	12	1798	c.1510C>T	c.(1510-1512)Ccc>Tcc	p.P504S	SMC2_ENST00000374787.3_Missense_Mutation_p.P504S|SMC2_ENST00000303219.8_Missense_Mutation_p.P504S|SMC2_ENST00000374793.3_Missense_Mutation_p.P504S	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	504					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AGCCAGATTTCCCAATCTTCG	0.343000													58	131					0	0	0.000781405	0	0
CGNL1	84952	broad.mit.edu	37	15	57731589	57731589	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:57731589G>A	ENST00000281282.5	+	2	1470	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	464	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CTCCCCAGCCGAACATAGATG	0.592000													9	30					0	0	0.000442599	0	0
DENND2C	163259	broad.mit.edu	37	1	115147646	115147646	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:115147646G>A	ENST00000393274.1	-	11	2189	c.1564C>T	c.(1564-1566)Cat>Tat	p.H522Y	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.H465Y|DENND2C_ENST00000393277.1_Missense_Mutation_p.H522Y	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	522	UDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTATAGCCATGATCATCCTGA	0.363000													7	72					0	0	0.00198382	0	0
KPRP	448834	broad.mit.edu	37	1	152732820	152732820	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:152732820C>T	ENST00000368773.1	+	2	814	c.756C>T	c.(754-756)acC>acT	p.T252T	KPRP_ENST00000606109.1_Silent_p.T252T	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	252						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCGGAGCACCAGCAGATGCC	0.607000													23	61					0	0	0.00047179	0	0
SYNE2	23224	broad.mit.edu	37	14	64461881	64461881	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:64461881C>T	ENST00000358025.3	+	23	3131	c.2901C>T	c.(2899-2901)atC>atT	p.I967I	SYNE2_ENST00000554584.1_Silent_p.I967I|SYNE2_ENST00000344113.4_Silent_p.I967I|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	967					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGAAACTTATCCGTAGAGGAA	0.294000													9	48					0	0	0.000442599	0	0
LIM2	3982	broad.mit.edu	37	19	51885677	51885677	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:51885677G>A	ENST00000221973.3	-	3	488	c.446C>T	c.(445-447)tCc>tTc	p.S149F	LIM2_ENST00000596399.1_Missense_Mutation_p.S107F	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	107					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		CTCACTTGAGGAAAAAAACAT	0.567000													44	46					0	0	0.000781405	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039597	36039597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:36039597G>A	ENST00000282507.3	-	5	1158	c.1057C>T	c.(1057-1059)Cct>Tct	p.P353S	UGT3A2_ENST00000545528.1_Missense_Mutation_p.P51S|UGT3A2_ENST00000513300.1_Missense_Mutation_p.P319S	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	353						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCACTCTGAGGAAGCCAGTCC	0.537000													18	56					0	0	0.00152264	0	0
LRP2	4036	broad.mit.edu	37	2	170072834	170072834	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:170072834C>T	ENST00000263816.3	-	35	6040	c.5755G>A	c.(5755-5757)Gaa>Aaa	p.E1919K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1919					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCCAGGTGTTCGAGGTTCCCA	0.502000													8	38					0	0	0.000442599	0	0
KCNA1	3736	broad.mit.edu	37	12	5020775	5020775	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:5020775G>A	ENST00000382545.3	+	2	1338	c.231G>A	c.(229-231)agG>agA	p.R77R	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	77					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACCCCCTGAGGAACGAGTACT	0.652000													21	40					0	0	0.00229938	0	0
SPAG8	26206	broad.mit.edu	37	9	35811392	35811392	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:35811392G>A	ENST00000340291.2	-	2	775	c.651C>T	c.(649-651)ttC>ttT	p.F217F	SPAG8_ENST00000484764.1_Silent_p.F215F|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000396638.2_Silent_p.F217F	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	217						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			CCAGGTTTCTGAACCCTGGAG	0.582000													40	126					0	0	0.000680045	0	0
MIR520G	574484	broad.mit.edu	37	19	54225474	54225474	+	RNA	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:54225474A>C	ENST00000385064.1	+	0	55					NR_030206.1																						CTGAGAAAAAACAAAGTGCTT	0.408000													18	51					0	0	0.000958276	0	0
TRANK1	9881	broad.mit.edu	37	3	36897504	36897504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:36897504C>T	ENST00000429976.2	-	12	3824	c.3577G>A	c.(3577-3579)Gac>Aac	p.D1193N	TRANK1_ENST00000428977.2_Missense_Mutation_p.D643N|TRANK1_ENST00000301807.6_Missense_Mutation_p.D643N			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1193					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAGTTCTCGTCCCTCAGGTCC	0.463000													109	134					0	0	0.000781405	0	0
COL5A1	1289	broad.mit.edu	37	9	137623417	137623417	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:137623417G>A	ENST00000371817.3	+	8	1654	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	414	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAACCTTGACGAGAActacta	0.622000													36	88					0	0	0.00111076	0	0
ATP5F1	515	broad.mit.edu	37	1	111998710	111998710	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:111998710C>T	ENST00000369722.3	+	4	832	c.226C>T	c.(226-228)Ccc>Tcc	p.P76S	ATP5F1_ENST00000483994.1_Missense_Mutation_p.P15S|ATP5F1_ENST00000369721.4_3'UTR	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	76					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCTTTTAGGACCCTATGTACT	0.378000													26	232					0	0	0.001512	0	0
ZBTB40	9923	broad.mit.edu	37	1	22835087	22835087	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:22835087T>C	ENST00000404138.1	+	9	2073	c.1562T>C	c.(1561-1563)gTt>gCt	p.V521A	ZBTB40_ENST00000375647.4_Missense_Mutation_p.V521A|ZBTB40_ENST00000374651.4_Missense_Mutation_p.V409A	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	521					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		ATATCAGCAGTTCTAGAAAAG	0.463000													43	81					0	0	0.000781405	0	0
SLC25A2	83884	broad.mit.edu	37	5	140682655	140682655	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140682655C>T	ENST00000239451.4	-	1	957	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	260					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	ACTATTCCTTCATTTCTCACA	0.423000													10	31					0	0	0.000442599	0	0
SLIT3	6586	broad.mit.edu	37	5	168093514	168093514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:168093514G>A	ENST00000519560.1	-	36	4936	c.4517C>T	c.(4516-4518)tCg>tTg	p.S1506L	SLIT3_ENST00000332966.8_Missense_Mutation_p.S1513L|CTC-558O2.2_ENST00000520041.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1506	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTACAAACGAGGAGCCGTC	0.637000													11	11					0	0	0.000978159	0	0
CSMD3	114788	broad.mit.edu	37	8	114327001	114327001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:114327001C>T	ENST00000297405.5	-	2	444	c.200G>A	c.(199-201)gGa>gAa	p.G67E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G67E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G27E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G67E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	67	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTTAAAGTTCCACCACATGT	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			122	45					0	0	0.000781405	0	0
DMXL2	23312	broad.mit.edu	37	15	51839457	51839457	+	Missense_Mutation	SNP	G	G	A	rs143486672		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:51839457G>A	ENST00000251076.5	-	7	1003	c.716C>T	c.(715-717)tCg>tTg	p.S239L	DMXL2_ENST00000543779.2_Missense_Mutation_p.S239L|DMXL2_ENST00000449909.3_Missense_Mutation_p.S239L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	239						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTTGCGCCACGAAAAACCTGT	0.358000													16	9					0	0	0.000308642	0	0
BOD1L2	284257	broad.mit.edu	37	18	54814897	54814897	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:54814897G>A	ENST00000585477.1	+	1	605	c.354G>A	c.(352-354)agG>agA	p.R118R		NM_001257964.1	NP_001244893.1			biorientation of chromosomes in cell division 1-like 2																		GAGTGGACAGGATTAGTTCTC	0.483000													11	47					0	0	0.00185496	0	0
OBSCN	84033	broad.mit.edu	37	1	228548203	228548203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:228548203C>T	ENST00000284548.11	+	81	19684	c.19610C>T	c.(19609-19611)gCg>gTg	p.A6537V	OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.A3656V|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7558	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCCGTGGGGCGTCACCACCG	0.711000													9	8					0	0	0.000274275	0	0
PIGR	5284	broad.mit.edu	37	1	207105058	207105058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:207105058C>T	ENST00000356495.4	-	9	2281	c.2098G>A	c.(2098-2100)Gcc>Acc	p.A700T	PIGR_ENST00000487208.1_5'UTR	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	700						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ATCGAAGAGGCTCCCATGTTG	0.512000													28	98					0	0	0.000878237	0	0
EVI5L	115704	broad.mit.edu	37	19	7912715	7912715	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:7912715C>T	ENST00000270530.4	+	3	431	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L	EVI5L_ENST00000538904.2_Silent_p.L79L	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	79						intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CTCCTCCAACCTGAGCCACCT	0.662000													9	21					0	0	0.000274275	0	0
OR6C75	390323	broad.mit.edu	37	12	55759806	55759806	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:55759806G>A	ENST00000343399.3	+	1	912	c.912G>A	c.(910-912)caG>caA	p.Q304Q		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GCATGGTCCAGAAGATGATTT	0.388000													8	36					0	0	0.000442599	0	0
FLG2	388698	broad.mit.edu	37	1	152329818	152329818	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:152329818C>T	ENST00000388718.5	-	3	516	c.444G>A	c.(442-444)agG>agA	p.R148R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	148	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACAGTTCCCCTTGAGTGCC	0.468000													41	224					0	0	0.0025221	0	0
ZNF598	90850	broad.mit.edu	37	16	2049661	2049661	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:2049661G>A	ENST00000563630.1	-	9	1966	c.1724C>T	c.(1723-1725)gCc>gTc	p.A575V	ZNF598_ENST00000431526.1_Missense_Mutation_p.A630V|ZNF598_ENST00000562103.1_Missense_Mutation_p.A575V			Q86UK7	ZN598_HUMAN	zinc finger protein 598	630						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						AACGACGACGGCAACTGGCCC	0.706000													13	25					0	0	0.00185496	0	0
MUC16	94025	broad.mit.edu	37	19	9077737	9077737	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9077737G>A	ENST00000397910.4	-	3	9912	c.9709C>T	c.(9709-9711)Ccc>Tcc	p.P3237S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3238	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTCCATGGGAACAGTTGTT	0.527000													38	115					0	0	0.00170553	0	0
C1orf168	199920	broad.mit.edu	37	1	57206409	57206409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:57206409C>T	ENST00000343433.6	-	13	1744	c.1664G>A	c.(1663-1665)aGa>aAa	p.R555K	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	555										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TATTTTAAATCTATCCTTTTC	0.348000													5	12					0	0	0.000157383	0	0
SLC14A1	6563	broad.mit.edu	37	18	43319587	43319587	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:43319587G>A	ENST00000589700.1	+	5	758	c.758G>A	c.(757-759)tGg>tAg	p.W253*	SLC14A1_ENST00000321925.4_Missense_Mutation_p.M302I|SLC14A1_ENST00000535474.1_Missense_Mutation_p.M170I|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000586142.1_Missense_Mutation_p.M302I|SLC14A1_ENST00000436407.3_Missense_Mutation_p.M358I|SLC14A1_ENST00000415427.3_Missense_Mutation_p.M358I|SLC14A1_ENST00000502059.2_Missense_Mutation_p.M194I|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000402943.2_Missense_Mutation_p.M197I|SLC14A1_ENST00000591541.1_Missense_Mutation_p.M6I			Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	0						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GAATGTTCATGGCGCTCACCT	0.547000													19	95					0	0	0.00121646	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820177	50820177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:50820177C>T	ENST00000374115.3	+	1	1831	c.1391C>T	c.(1390-1392)cCc>cTc	p.P464L	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	464					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CTCTATGCTCCCGTCTTGCTG	0.642000													10	39					0	0	0.000442599	0	0
UGT1A3	54659	broad.mit.edu	37	2	234638435	234638435	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:234638435C>T	ENST00000482026.1	+	1	682	c.663C>T	c.(661-663)tcC>tcT	p.S221S	UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A9_ENST00000354728.4_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGGCCCTGTCCTACATTTGCC	0.453000													108	140					0	0	0.000781405	0	0
MUC17	140453	broad.mit.edu	37	7	100678869	100678869	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:100678869C>A	ENST00000306151.4	+	3	4236	c.4172C>A	c.(4171-4173)cCt>cAt	p.P1391H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1391	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)					AACTCAAATCCTAGTGAAGGA	0.493000													163	99					6.97922e-69	2.5945e-68	0.000781405	1	0
ARHGEF11	9826	broad.mit.edu	37	1	156916804	156916804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:156916804G>A	ENST00000368194.3	-	27	3531	c.2492C>T	c.(2491-2493)tCc>tTc	p.S831F	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.S207F|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.S791F	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	791	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.S831F(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTCACACCAGGAATCTGGGGC	0.522000													30	140					0	0	0.0024448	0	0
FRAS1	80144	broad.mit.edu	37	4	79308840	79308840	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:79308840G>A	ENST00000264895.6	+	29	4400	c.3960G>A	c.(3958-3960)gtG>gtA	p.V1320V	FRAS1_ENST00000325942.6_Silent_p.V1320V	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1319					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGTTCCAAGTGAAGACCGTGC	0.433000													12	12					0	0	0.00244969	0	0
SIX2	10736	broad.mit.edu	37	2	45235880	45235880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:45235880C>T	ENST00000303077.6	-	1	689	c.370G>A	c.(370-372)Ggc>Agc	p.G124S		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	124						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTCTCCTCGCCGTCCCAGATG	0.657000													14	48					0	0	0.00244969	0	0
C17orf53	78995	broad.mit.edu	37	17	42226383	42226383	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:42226383C>T	ENST00000319977.4	+	3	1449	c.1212C>T	c.(1210-1212)atC>atT	p.I404I	C17orf53_ENST00000245382.6_Silent_p.I404I|C17orf53_ENST00000585683.1_Silent_p.I404I	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	404										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CAGCTGGGATCCTGCCTCACC	0.612000													11	21					0	0	0.000978159	0	0
RGS6	9628	broad.mit.edu	37	14	73029132	73029132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:73029132C>T	ENST00000553530.1	+	17	1583	c.1376C>T	c.(1375-1377)tCg>tTg	p.S459L	RGS6_ENST00000553525.1_Missense_Mutation_p.S477L|RGS6_ENST00000402788.2_Missense_Mutation_p.S459L|RGS6_ENST00000343854.6_Missense_Mutation_p.S440L|RGS6_ENST00000554782.1_Intron|RP3-514A23.2_ENST00000555303.1_lincRNA|RGS6_ENST00000555571.1_Missense_Mutation_p.S459L|RGS6_ENST00000556437.1_Missense_Mutation_p.S477L	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	459					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAGGGAAAGTCGCTGGCGGGC	0.647000													9	44					0	0	0.000673444	0	0
DNAH5	1767	broad.mit.edu	37	5	13727654	13727654	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:13727654G>A	ENST00000265104.4	-	70	12099	c.11995C>T	c.(11995-11997)Ctt>Ttt	p.L3999F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3999					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GATCTAATAAGGAGAAGACGT	0.363000									Kartagener syndrome				23	19					0	0	0.00127121	0	0
TMEM206	55248	broad.mit.edu	37	1	212558705	212558705	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:212558705G>A	ENST00000261455.4	-	4	543	c.406C>T	c.(406-408)Cct>Tct	p.P136S	TMEM206_ENST00000471937.1_5'UTR|TMEM206_ENST00000535273.1_Missense_Mutation_p.P197S	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	136						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		GTCAGAGGAGGAATGACCTCG	0.532000													12	68					0	0	0.00244969	0	0
TRAJ23	28732	broad.mit.edu	37	14	22989412	22989412	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:22989412G>A	ENST00000390514.1	+	0	19																											AACCAGGGAGGAAAGCTTATC	0.423000													41	36					0	0	0.000781405	0	0
PCK1	5105	broad.mit.edu	37	20	56137137	56137137	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:56137137C>G	ENST00000319441.4	+	3	399	c.235C>G	c.(235-237)Ctc>Gtc	p.L79V	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	79					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CTGGTTGGCTCTCACTGACCC	0.557000													33	16					0	0	0.00283554	0	0
POGK	57645	broad.mit.edu	37	1	166818322	166818322	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:166818322C>T	ENST00000367875.1	+	5	866	c.506C>T	c.(505-507)cCc>cTc	p.P169L	POGK_ENST00000537173.1_Missense_Mutation_p.P51L|POGK_ENST00000536514.1_Missense_Mutation_p.P84L|POGK_ENST00000367876.4_Missense_Mutation_p.P169L			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	169					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						GAGGGGTACCCCTTCTACATG	0.582000													33	29					0	0	0.00209593	0	0
DNAH10	196385	broad.mit.edu	37	12	124399401	124399401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:124399401G>A	ENST00000409039.3	+	61	10248	c.10223G>A	c.(10222-10224)tGg>tAg	p.W3408*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3408	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCTTCCAGATGGGGATCCCAG	0.562000													7	21					0	0	0.000157383	0	0
GLRB	2743	broad.mit.edu	37	4	158060009	158060009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:158060009C>T	ENST00000264428.4	+	7	929	c.659C>T	c.(658-660)cCt>cTt	p.P220L	GLRB_ENST00000509282.1_Missense_Mutation_p.P220L|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.P220L	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	220					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TCAGGAGATCCTGTGCAATTA	0.289000													35	21					0	0	0.00285205	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431494	140431494	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140431494C>T	ENST00000306549.3	+	1	516	c.439C>T	c.(439-441)Cct>Tct	p.P147S		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		147	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGAGCACCCCTTTGGGTTC	0.532000													23	13					0	0	0.00047179	0	0
ACER1	125981	broad.mit.edu	37	19	6312178	6312178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:6312178G>A	ENST00000301452.4	-	3	409	c.332C>T	c.(331-333)tCc>tTc	p.S111F		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	111						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CCCAAGGAAGGAGGGGAAATA	0.607000													24	26					0	0	0.000586117	0	0
PROM1	8842	broad.mit.edu	37	4	16034954	16034954	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:16034954G>A	ENST00000505450.1	-	4	1067	c.455C>T	c.(454-456)tCc>tTc	p.S152F	PROM1_ENST00000508167.1_Missense_Mutation_p.S152F|PROM1_ENST00000539194.1_Missense_Mutation_p.S161F|PROM1_ENST00000540805.1_Missense_Mutation_p.S161F|PROM1_ENST00000447510.2_Missense_Mutation_p.S161F|PROM1_ENST00000510224.1_Missense_Mutation_p.S161F|PROM1_ENST00000543373.1_Missense_Mutation_p.S152F|PROM1_ENST00000502943.1_5'UTR	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	161					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						CACCAACAGGGAGATTGCAAA	0.383000													34	24					0	0	0.000692331	0	0
PRRC2C	23215	broad.mit.edu	37	1	171535487	171535487	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:171535487C>T	ENST00000367742.3	+	21	6475	c.6233C>T	c.(6232-6234)tCt>tTt	p.S2078F	PRRC2C_ENST00000426496.2_Missense_Mutation_p.S2076F|PRRC2C_ENST00000392078.3_Missense_Mutation_p.S2078F|PRRC2C_ENST00000338920.4_Missense_Mutation_p.S2076F			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2076							protein C-terminus binding										TCGGAAAAATCTGCTGACAAA	0.413000													16	7					0	0	0.000308642	0	0
PKD2L1	9033	broad.mit.edu	37	10	102089628	102089628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:102089628C>T	ENST00000318222.3	-	1	615	c.233G>A	c.(232-234)aGa>aAa	p.R78K	PKD2L1_ENST00000353274.3_Missense_Mutation_p.R78K|PKD2L1_ENST00000338519.3_Missense_Mutation_p.R78K	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	78					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCTGGTACCTCTGATGCCTTG	0.547000													19	29					0	0	0.00152264	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768792	31768792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:31768792G>A	ENST00000240587.4	-	2	2234	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	636					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTTGGGCGGGGAAAGCTTCCC	0.577000													22	35					0	0	0.00188189	0	0
GGA3	23163	broad.mit.edu	37	17	73257652	73257652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:73257652C>T	ENST00000245541.6	-	1	233	c.17G>A	c.(16-18)gGg>gAg	p.G6E	GGA3_ENST00000578348.1_Intron|GGA3_ENST00000538886.1_5'UTR|GGA3_ENST00000537686.1_Missense_Mutation_p.G6E|GGA3_ENST00000351904.7_Missense_Mutation_p.G6E|GGA3_ENST00000579743.1_Intron|GGA3_ENST00000582717.1_Intron|GGA3_ENST00000582486.1_Intron	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	6	Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CAGGCTTTCCCCTTCCGCCTC	0.697000													7	27					0	0	0.000157383	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149008485	149008485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:149008485G>A	ENST00000333677.6	+	12	1937	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	592					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TCTAACACCGGAGCCCAGCCC	0.612000													9	17					0	0	0.000442599	0	0
ELP3	55140	broad.mit.edu	37	8	28017872	28017872	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:28017872C>T	ENST00000256398.8	+	13	1761	c.1384C>T	c.(1384-1386)Cgt>Tgt	p.R462C	ELP3_ENST00000542181.1_Missense_Mutation_p.R333C|ELP3_ENST00000521015.1_Missense_Mutation_p.R448C|ELP3_ENST00000380353.4_Missense_Mutation_p.R370C|ELP3_ENST00000537665.1_Missense_Mutation_p.R343C|ELP3_ENST00000524103.1_Missense_Mutation_p.R390C	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	462	N-acetyltransferase.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		AGAAACTTTCCGTTTCGAATT	0.473000													13	18					0	0	0.00185496	0	0
YIPF7	285525	broad.mit.edu	37	4	44652082	44652082	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:44652082G>A	ENST00000332990.5	-	2	124	c.108C>T	c.(106-108)taC>taT	p.Y36Y	YIPF7_ENST00000508947.1_5'UTR	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	36						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						AATTAGATTGGTAAAAATCAG	0.289000													8	4					0	0	0.000978159	0	0
TMEM156	80008	broad.mit.edu	37	4	39000348	39000348	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:39000348G>A	ENST00000381938.3	-	2	377	c.270C>T	c.(268-270)atC>atT	p.I90I	TMEM156_ENST00000372489.2_5'UTR	NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	90						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ATTCACCTGTGATGTCTTGGC	0.373000													6	12					0	0	0.00198382	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45899467	45899467	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:45899467A>T	ENST00000418234.2	-	6	940	c.862T>A	c.(862-864)Tgg>Agg	p.W288R	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.W288R	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	288	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CTCTCCCTCCAAGGCAACAGC	0.692000													11	18					0	0	0.000566183	0	0
MYH9	4627	broad.mit.edu	37	22	36714331	36714331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:36714331G>A	ENST00000216181.5	-	11	1378	c.1148C>T	c.(1147-1149)aCc>aTc	p.T383I		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	383	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGTGAAATCGGTCACATTGAT	0.502000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				270	171					0	0	0.000781405	0	0
HELQ	113510	broad.mit.edu	37	4	84352866	84352866	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:84352866T>G	ENST00000295488.3	-	11	2408	c.2246A>C	c.(2245-2247)gAa>gCa	p.E749A	HELQ_ENST00000510985.1_Missense_Mutation_p.E682A	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	749	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CTTGGTGAATTCCTGAACAAG	0.303000								Other identified genes with known or suspected DNA repair function					13	42					0	0	0.00074312	0	0
AMZ1	155185	broad.mit.edu	37	7	2740289	2740289	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:2740289G>A	ENST00000312371.4	+	2	572	c.204G>A	c.(202-204)ctG>ctA	p.L68L	AMZ1_ENST00000407112.1_Silent_p.L68L	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	68							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		ACTGGCTCCTGAGCCGACCCG	0.667000													45	95					0	0	0.00285205	0	0
BRINP3	339479	broad.mit.edu	37	1	190067725	190067725	+	Missense_Mutation	SNP	G	G	A	rs146145589		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:190067725G>A	ENST00000367462.3	-	8	1955	c.1724C>T	c.(1723-1725)cCc>cTc	p.P575L	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.P473L	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		575						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCCTCCGAAGGGATTGACATA	0.463000													54	107					0	0	0.000781405	0	0
SNX11	29916	broad.mit.edu	37	17	46198718	46198718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:46198718C>T	ENST00000393405.2	+	8	1015	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S	SNX11_ENST00000359238.2_Missense_Mutation_p.P221S|SNX11_ENST00000439357.2_Missense_Mutation_p.P160S|SNX11_ENST00000580219.1_Missense_Mutation_p.P213S|SNX11_ENST00000452859.2_Missense_Mutation_p.P77S|SNX11_ENST00000582104.1_Missense_Mutation_p.P213S	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	221					cell communication|protein transport	membrane	phosphatidylinositol binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						CTTGGAAAGTCCCACTCTCCC	0.542000													40	103					0	0	0.00148497	0	0
DSG3	1830	broad.mit.edu	37	18	29052688	29052688	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:29052688G>A	ENST00000257189.4	+	14	2121	c.2037_splice	c.e14-1	p.E680_splice		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	680					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.E680K(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGGTTTGCAGGAAATCACAAA	0.353000													11	52					0	0	0.000673444	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889834	23889834	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:23889834G>A	ENST00000532292.1	-	1	1341	c.1247C>T	c.(1246-1248)cCc>cTc	p.P416L		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTCATCCAAGGGAGACAAGGG	0.572000													15	17					0	0	0.000308642	0	0
NOD2	64127	broad.mit.edu	37	16	50756591	50756591	+	Missense_Mutation	SNP	G	G	A	rs75934273		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:50756591G>A	ENST00000300589.2	+	8	2878	c.2773G>A	c.(2773-2775)Gat>Aat	p.D925N		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	925					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGCCTTGGGTGATCACCAGAG	0.552000													81	192					0	0	0.000781405	0	0
CABP2	51475	broad.mit.edu	37	11	67287409	67287409	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:67287409G>A	ENST00000294288.4	-	6	561	c.492C>T	c.(490-492)ttC>ttT	p.F164F	CABP2_ENST00000353903.5_Silent_p.F107F	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	164	EF-hand 3.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						CATTGGTGTCGAACTGTGGCG	0.697000													7	12					0	0	0.000157383	0	0
NFRKB	4798	broad.mit.edu	37	11	129756218	129756218	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:129756218G>A	ENST00000446488.3	-	4	562	c.459C>T	c.(457-459)tcC>tcT	p.S153S	NFRKB_ENST00000524746.1_Silent_p.S153S|NFRKB_ENST00000304521.5_Silent_p.S153S|NFRKB_ENST00000524794.1_Silent_p.S166S	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	153					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TTACACTCCGGGAAGCAAGAA	0.463000													78	88					0	0	0.000781405	0	0
BTBD11	121551	broad.mit.edu	37	12	108008863	108008863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:108008863C>T	ENST00000280758.5	+	7	2453	c.1925C>T	c.(1924-1926)cCa>cTa	p.P642L	BTBD11_ENST00000420571.2_Missense_Mutation_p.P642L|BTBD11_ENST00000357167.4_Missense_Mutation_p.P179L|BTBD11_ENST00000490090.2_Missense_Mutation_p.P642L|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	642						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CATAAATATCCATCCGTCCAC	0.418000													11	38					0	0	0.000673444	0	0
MUC16	94025	broad.mit.edu	37	19	9085246	9085246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9085246G>A	ENST00000397910.4	-	1	6772	c.6569C>T	c.(6568-6570)tCt>tTt	p.S2190F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2190	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAACCAAAGACTCTGAAGT	0.463000													10	32					0	0	0.000673444	0	0
FAM179A	165186	broad.mit.edu	37	2	29226426	29226426	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:29226426G>A	ENST00000379558.4	+	6	1059	c.708G>A	c.(706-708)gtG>gtA	p.V236V	FAM179A_ENST00000403861.2_Silent_p.V236V	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	236							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCGCCATCGTGATCCCACCCA	0.642000													4	10					0	0	0.000602214	0	0
KIAA1210	57481	broad.mit.edu	37	X	118223173	118223173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:118223173C>T	ENST00000402510.2	-	11	2019	c.2020G>A	c.(2020-2022)Gaa>Aaa	p.E674K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	674										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GAAAGGCTTTCCACCATCAGT	0.468000													10	16					0	0	0.000442599	0	0
SLC17A2	10246	broad.mit.edu	37	6	25915870	25915870	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:25915870G>A	ENST00000377850.3	-	10	1592	c.1068C>T	c.(1066-1068)ctC>ctT	p.L356L	SLC17A2_ENST00000360488.3_Intron|SLC17A2_ENST00000265425.3_Silent_p.L356L			O00624	NPT3_HUMAN	solute carrier family 17, member 2	356					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						ATGGAAGGAGGAGCCCTGGGC	0.493000													11	30					0	0	0.00136819	0	0
NGFR	4804	broad.mit.edu	37	17	47583862	47583862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:47583862C>T	ENST00000172229.3	+	3	535	c.410C>T	c.(409-411)tCc>tTc	p.S137F	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.S43F	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	137					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CTCGTGTTCTCCTGCCAGGAC	0.692000													13	17					0	0	0.000422831	0	0
CASR	846	broad.mit.edu	37	3	122002548	122002548	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:122002548A>G	ENST00000498619.1	+	7	2215	c.1777A>G	c.(1777-1779)Aac>Gac	p.N593D	CASR_ENST00000490131.1_Missense_Mutation_p.N583D|CASR_ENST00000296154.5_Missense_Mutation_p.N583D	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	583					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAGTGCCTGTAACAAGTGCCC	0.488000													27	53					0	0	0.00178596	0	0
LCN15	389812	broad.mit.edu	37	9	139656668	139656668	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:139656668C>T	ENST00000316144.5	-	5	516	c.492G>A	c.(490-492)aaG>aaA	p.K164K	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	164			K -> E (in dbSNP:rs2297722).		lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|lung(1)	2						CCATCATGTCCTTGGGGAGCC	0.647000													5	1					0	0	0.00198382	0	0
MASP2	10747	broad.mit.edu	37	1	11087255	11087255	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:11087255C>T	ENST00000400897.3	-	11	1763	c.1748G>A	c.(1747-1749)aGa>aAa	p.R583K		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	583	Peptidase S1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CATTAGATTTCTAGCAAGAAA	0.418000													105	79					0	0	0.000781405	0	0
OR2K2	26248	broad.mit.edu	37	9	114090528	114090528	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:114090528G>A	ENST00000374428.1	-	1	272	c.273C>T	c.(271-273)ttC>ttT	p.F91F	OR2K2_ENST00000302681.1_Silent_p.F62F			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GATTTCCAAGGAATAAGTACA	0.408000													12	51					0	0	0.00185496	0	0
WDR96	80217	broad.mit.edu	37	10	105926467	105926467	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:105926467C>T	ENST00000357060.3	-	23	2933	c.2818G>A	c.(2818-2820)Gaa>Aaa	p.E940K	WDR96_ENST00000428666.1_Missense_Mutation_p.E941K	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	940										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCTACAATTTCCTTCCGTAGC	0.348000													46	53					0	0	0.000781405	0	0
ABCC8	6833	broad.mit.edu	37	11	17452451	17452451	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:17452451G>A	ENST00000302539.4	-	12	1852	c.1727C>T	c.(1726-1728)gCc>gTc	p.A576V	ABCC8_ENST00000389817.3_Missense_Mutation_p.A576V|ABCC8_ENST00000528202.1_5'UTR	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	576	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGAGGCAAAGGCCACGGAGGG	0.597000													149	187					0	0	0.000781405	0	0
OR5V1	81696	broad.mit.edu	37	6	29323035	29323035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:29323035G>A	ENST00000377154.1	-	4	1237	c.938C>T	c.(937-939)tCc>tTc	p.S313F	OR5V1_ENST00000543825.1_Missense_Mutation_p.S313F			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S313F(2)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATCCAAAGAGGAAATTGGTGG	0.358000													21	18					0	0	0.00229938	0	0
MTMR1	8776	broad.mit.edu	37	X	149919206	149919206	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:149919206C>T	ENST00000445323.2	+	14	1692	c.1571C>T	c.(1570-1572)cCt>cTt	p.P524L	MTMR1_ENST00000544228.1_Missense_Mutation_p.P516L|MTMR1_ENST00000370390.3_Missense_Mutation_p.P516L|MTMR1_ENST00000541925.1_Missense_Mutation_p.P422L|MTMR1_ENST00000538506.1_Missense_Mutation_p.P341L|MTMR1_ENST00000451863.2_Missense_Mutation_p.P516L			Q13613	MTMR1_HUMAN	myotubularin related protein 1	516	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTTAAGTTTCCTTCAGCATTC	0.328000													37	23					0	0	0.000814825	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481640	27481640	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:27481640G>A	ENST00000233535.4	-	2	610	c.258C>T	c.(256-258)ttC>ttT	p.F86F	SLC30A3_ENST00000447008.2_Silent_p.F81F	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	86					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCAGCCATGAAGACAAAGC	0.602000													14	88					0	0	0.000566183	0	0
CACNG8	59283	broad.mit.edu	37	19	54483246	54483246	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:54483246C>T	ENST00000270458.2	+	3	596	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	165					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGCAGGGATCCTGTTCGTGGC	0.672000													9	21					0	0	0.000978159	0	0
WDFY3	23001	broad.mit.edu	37	4	85611810	85611810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:85611810G>A	ENST00000322366.6	-	60	9568	c.9161C>T	c.(9160-9162)aCt>aTt	p.T3054I	WDFY3_ENST00000295888.4_Missense_Mutation_p.T3071I			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3071						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTCATAAACAGTCATGGCCTA	0.478000													14	23					0	0	0.000308642	0	0
KLK10	5655	broad.mit.edu	37	19	51518107	51518107	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:51518107G>A	ENST00000309958.3	-	6	998	c.780C>T	c.(778-780)acC>acT	p.T260T	KLK10_ENST00000358789.3_Silent_p.T260T|KLK10_ENST00000391805.1_Silent_p.T260T	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	260	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		TGCAGATCTGGGTGTAGACAG	0.547000													23	87					0	0	0.00229938	0	0
OR8J1	219477	broad.mit.edu	37	11	56128056	56128056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:56128056G>A	ENST00000303039.3	+	1	366	c.334G>A	c.(334-336)Gta>Ata	p.V112I		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGTATCGGAGGTAATCATGCT	0.463000													23	23					0	0	0.000878237	0	0
COL3A1	1281	broad.mit.edu	37	2	189860485	189860485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:189860485G>A	ENST00000304636.3	+	22	1747	c.1577G>A	c.(1576-1578)aGa>aAa	p.R526K	COL3A1_ENST00000317840.5_Missense_Mutation_p.R526K	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	526	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GAACCTGGCAGAGATGGCGTC	0.468000													4	3					0	0	0.00024832	0	0
C8B	732	broad.mit.edu	37	1	57397489	57397489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:57397489G>A	ENST00000543257.1	-	12	2025	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W	C8B_ENST00000535057.1_Missense_Mutation_p.R477W|C8B_ENST00000371237.4_Missense_Mutation_p.R539W	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	539	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TTACTCTTCCGATAGGAGACC	0.502000													19	21					0	0	0.00152264	0	0
COL19A1	1310	broad.mit.edu	37	6	70850851	70850851	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:70850851G>A	ENST00000322773.4	+	20	1554	c.1452G>A	c.(1450-1452)gaG>gaA	p.E484E	COL19A1_ENST00000393344.1_Silent_p.E106E	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	484	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTTAGGGAGAGCCTTTTACAA	0.373000													24	19					0	0	0.00047179	0	0
SALL3	27164	broad.mit.edu	37	18	76754633	76754633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:76754633C>T	ENST00000536229.3	+	1	2952	c.2243C>T	c.(2242-2244)tCg>tTg	p.S748L	SALL3_ENST00000575389.2_Missense_Mutation_p.S881L|SALL3_ENST00000537592.2_Missense_Mutation_p.S881L			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	881					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GACTCCTCGTCGGCCGTGGGC	0.692000													41	29					0	0	0.0025221	0	0
STXBP6	29091	broad.mit.edu	37	14	25443984	25443984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:25443984G>A	ENST00000323944.5	-	2	492	c.41C>T	c.(40-42)cCt>cTt	p.P14L	STXBP6_ENST00000546511.1_Missense_Mutation_p.P14L|STXBP6_ENST00000419632.2_Missense_Mutation_p.P14L|STXBP6_ENST00000548724.1_Missense_Mutation_p.P14L|STXBP6_ENST00000358326.2_Missense_Mutation_p.P14L|STXBP6_ENST00000550887.1_Missense_Mutation_p.P14L|STXBP6_ENST00000396700.1_Missense_Mutation_p.P14L			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	14					vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		TTCATCAAGAGGTGCAAAAAT	0.408000													5	21					0	0	0.000602214	0	0
DLG5	9231	broad.mit.edu	37	10	79603326	79603326	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:79603326G>A	ENST00000372391.2	-	6	1008	c.1003C>T	c.(1003-1005)Ctg>Ttg	p.L335L	DLG5_ENST00000372388.2_Silent_p.L335L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	335					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGGCGGCTCAGGTCTGCATTG	0.582000													38	52					0	0	0.00222228	0	0
EFTUD2	9343	broad.mit.edu	37	17	42929143	42929143	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:42929143G>A	ENST00000426333.2	-	27	3055	c.2758C>T	c.(2758-2760)Ccc>Tcc	p.P920S	EFTUD2_ENST00000402521.3_Missense_Mutation_p.P885S|EFTUD2_ENST00000591382.1_Missense_Mutation_p.P920S|EFTUD2_ENST00000592576.1_Missense_Mutation_p.P910S	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	920						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GGCTCCAAGGGGCGGATGACA	0.552000													9	20					0	0	0.000673444	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71478832	71478832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:71478832G>A	ENST00000265382.3	+	5	454	c.149G>A	c.(148-150)cGa>cAa	p.R50Q	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.R50Q	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	50	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AAGCCAGAACGAGATGTTCTT	0.403000													33	82					0	0	0.000692331	0	0
CAMTA1	23261	broad.mit.edu	37	1	7797056	7797056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:7797056C>T	ENST00000303635.7	+	14	3536	c.3329C>T	c.(3328-3330)tCc>tTc	p.S1110F	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S1110F	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GACCACTTCTCCTGTACTCCT	0.498000			T	WWTR1	epitheliod hemangioendothelioma								5	38					0	0	0.00198382	0	0
C6	729	broad.mit.edu	37	5	41153961	41153961	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:41153961C>T	ENST00000263413.3	-	15	2505	c.2241G>A	c.(2239-2241)caG>caA	p.Q747Q	C6_ENST00000337836.5_Silent_p.Q747Q	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	747	C5b-binding domain.|Sushi 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGGAATTCCCCTGGCATGTGT	0.473000													4	14					0	0	0.00116845	0	0
IBA57	200205	broad.mit.edu	37	1	228363208	228363208	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:228363208C>T	ENST00000366711.3	+	3	1067	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_Silent_p.S162S	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	355					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CTACAGTCTCCAAGTAGTCCG	0.627000													25	113					0	0	0.000878237	0	0
ZNF415	55786	broad.mit.edu	37	19	53611784	53611784	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:53611784A>C	ENST00000455735.2	-	7	1978	c.1658T>G	c.(1657-1659)tTt>tGt	p.F553C	ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.F553C|ZNF415_ENST00000601493.1_Missense_Mutation_p.F275C|ZNF415_ENST00000500065.4_Missense_Mutation_p.F505C|ZNF415_ENST00000421033.1_Missense_Mutation_p.F517C|ZNF415_ENST00000243643.4_Missense_Mutation_p.F505C|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.F492C			Q09FC8	ZN415_HUMAN	zinc finger protein 415	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GCGCACACTAAAGGATTTGCC	0.433000													31	138					0	0	0.00209593	0	0
SLC9A3	6550	broad.mit.edu	37	5	484715	484715	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:484715G>A	ENST00000264938.3	-	5	861	c.852C>T	c.(850-852)atC>atT	p.I284I	SLC9A3_ENST00000514375.1_Silent_p.I284I	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	284						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGGGCTCGATGATACGCACAT	0.622000													7	28					0	0	0.000157383	0	0
KIF21B	23046	broad.mit.edu	37	1	200972830	200972830	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:200972830G>A	ENST00000332129.2	-	8	1412	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W	KIF21B_ENST00000360529.5_Missense_Mutation_p.R366W|KIF21B_ENST00000422435.2_Missense_Mutation_p.R366W|KIF21B_ENST00000461742.2_Missense_Mutation_p.R366W	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	366					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R366W(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTGCGGGCCCGATTGGCATAT	0.552000													44	68					0	0	0.000680045	0	0
KCNA5	3741	broad.mit.edu	37	12	5155048	5155048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:5155048G>A	ENST00000252321.3	+	1	1964	c.1735G>A	c.(1735-1737)Ggc>Agc	p.G579S		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	579						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TGCCCGAAGGGGCAGCTGCCC	0.632000													13	21					0	0	0.00185496	0	0
LILRB2	10288	broad.mit.edu	37	19	54782143	54782143	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:54782143G>A	ENST00000391748.1	-	7	1356	c.1229C>T	c.(1228-1230)cCc>cTc	p.P410L	LILRB2_ENST00000391746.1_Missense_Mutation_p.P410L|LILRB2_ENST00000391749.4_Missense_Mutation_p.P410L|LILRB2_ENST00000434421.1_Missense_Mutation_p.P294L|LILRB2_ENST00000314446.5_Missense_Mutation_p.P410L	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	410	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGCTCACTGGGGTGAGACAG	0.637000													21	62					0	0	0.00152264	0	0
CD93	22918	broad.mit.edu	37	20	23065861	23065861	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:23065861C>T	ENST00000246006.4	-	1	1116	c.969G>A	c.(967-969)ggG>ggA	p.G323G		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	323	EGF-like 2.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGTAGTTTTTCCCATGGGGTC	0.637000													12	26					0	0	0.00136819	0	0
PMFBP1	83449	broad.mit.edu	37	16	72156856	72156856	+	Nonsense_Mutation	SNP	G	G	A	rs140352254		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:72156856G>A	ENST00000537465.1	-	19	2898	c.2740C>T	c.(2740-2742)Cga>Tga	p.R914*	PMFBP1_ENST00000537792.1_Nonsense_Mutation_p.R75*|PMFBP1_ENST00000237353.10_Nonsense_Mutation_p.R909*|PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.R764*			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	914										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				ACCTGCTCTCGGAGCTGGTTT	0.532000													25	75					0	0	0.0024448	0	0
ASTN2	23245	broad.mit.edu	37	9	119858380	119858380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:119858380C>T	ENST00000313400.4	-	5	1319	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	ASTN2_ENST00000373996.3_Missense_Mutation_p.D407N|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.D356N			O75129	ASTN2_HUMAN	astrotactin 2	407						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGAGTTTCATCGTCTGCCTCT	0.527000													9	41					0	0	0.000442599	0	0
PKP1	5317	broad.mit.edu	37	1	201294069	201294069	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:201294069G>A	ENST00000263946.3	+	12	2149	c.1897_splice	c.e12-1	p.G633_splice	PKP1_ENST00000367324.3_Splice_Site_p.G612_splice|PKP1_ENST00000352845.3_Splice_Site_p.G633_splice	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	633					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CCTCTCCCAGGGAACCAGGTG	0.612000													30	201					0	0	0.000953801	0	0
C17orf74	201243	broad.mit.edu	37	17	7329869	7329869	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:7329869G>T	ENST00000333870.3	+	3	633	c.559G>T	c.(559-561)Gag>Tag	p.E187*	C17orf74_ENST00000574034.1_Missense_Mutation_p.G74V|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	187						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CTACCTGGAGGAGGAGGACAA	0.587000													36	52					3.54909e-21	1.31286e-20	0.00285205	1	0
NRROS	375387	broad.mit.edu	37	3	196387578	196387578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:196387578C>T	ENST00000328557.4	+	3	1267	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		CCTTCCCTCTCCCACCTGAAC	0.602000													16	51					0	0	0.00074312	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125833439	125833439	+	Silent	SNP	G	G	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:125833439G>T	ENST00000393434.2	-	18	2392	c.2043C>A	c.(2041-2043)atC>atA	p.I681I	ALDH1L1_ENST00000273450.3_Silent_p.I691I|ALDH1L1_ENST00000472186.1_Silent_p.I681I|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000452905.2_Silent_p.I580I	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	681	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CAGCAAAGATGATGAGGGGTG	0.617000													36	79					4.14194e-30	1.53649e-29	0.00285205	1	0
ECE1	1889	broad.mit.edu	37	1	21548330	21548330	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:21548330G>A	ENST00000415912.2	-	18	2123	c.1998C>T	c.(1996-1998)taC>taT	p.Y666Y	ECE1_ENST00000374893.6_Silent_p.Y682Y|ECE1_ENST00000357071.4_Silent_p.Y670Y|ECE1_ENST00000436918.2_Intron|ECE1_ENST00000264205.6_Silent_p.Y679Y	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	682					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CCCAGTTCTGGTAAGCCTGGG	0.592000													46	189					0	0	0.000781405	0	0
UBR1	197131	broad.mit.edu	37	15	43339438	43339438	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:43339438G>A	ENST00000290650.4	-	14	1667	c.1589C>T	c.(1588-1590)cCt>cTt	p.P530L	UBR1_ENST00000382177.2_Missense_Mutation_p.P530L	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	530					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CTCCCAATCAGGATCCACTTC	0.418000													118	57					0	0	0.000781405	0	0
DNAJB13	374407	broad.mit.edu	37	11	73676029	73676029	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:73676029C>T	ENST00000339764.1	+	4	1192	c.441C>T	c.(439-441)tcC>tcT	p.S147S	DNAJB13_ENST00000537753.1_5'UTR|RP11-167N4.2_ENST00000540886.1_RNA|RP11-167N4.2_ENST00000537019.1_RNA	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	147					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					TCTACCTGTCCCTGGAGGACT	0.537000											OREG0021218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	20					0	0	0.000978159	0	0
IL5RA	3568	broad.mit.edu	37	3	3134004	3134004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:3134004C>T	ENST00000446632.2	-	9	1472	c.898G>A	c.(898-900)Gat>Aat	p.D300N	IL5RA_ENST00000456302.1_Missense_Mutation_p.D300N|IL5RA_ENST00000438560.1_Missense_Mutation_p.D300N|IL5RA_ENST00000418488.2_Intron|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000383846.1_Missense_Mutation_p.D300N|IL5RA_ENST00000256452.3_Missense_Mutation_p.D300N|IL5RA_ENST00000430514.2_Missense_Mutation_p.D300N|IL5RA_ENST00000311981.8_Missense_Mutation_p.D300N	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	300					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		TTAGAAAGATCATCAATTATT	0.418000													22	80					0	0	0.00188189	0	0
OR4M2	390538	broad.mit.edu	37	15	22368900	22368900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:22368900G>A	ENST00000332663.2	+	1	423	c.325G>A	c.(325-327)Gct>Act	p.A109T	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTTTGCTGGGGCTTCGGAGAT	0.468000													9	58					0	0	0.000442599	0	0
TCF4	6925	broad.mit.edu	37	18	52946885	52946885	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:52946885G>A	ENST00000354452.3	-	9	1163	c.552C>T	c.(550-552)gtC>gtT	p.V184V	TCF4_ENST00000570177.2_Silent_p.V54V|TCF4_ENST00000568673.1_Silent_p.V160V|TCF4_ENST00000540999.1_Silent_p.V160V|TCF4_ENST00000537856.3_Silent_p.V54V|TCF4_ENST00000564228.1_Silent_p.V113V|TCF4_ENST00000457482.3_Silent_p.V24V|TCF4_ENST00000398339.1_Silent_p.V286V|TCF4_ENST00000567880.1_Silent_p.V124V|TCF4_ENST00000356073.4_Silent_p.V184V|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000566279.1_Silent_p.V124V|TCF4_ENST00000543082.1_Silent_p.V142V|TCF4_ENST00000561992.1_Silent_p.V54V|TCF4_ENST00000564999.1_Silent_p.V184V|TCF4_ENST00000561831.3_Silent_p.V24V|TCF4_ENST00000565018.2_Silent_p.V184V|TCF4_ENST00000564403.2_Silent_p.V190V|TCF4_ENST00000566286.1_Silent_p.V182V|TCF4_ENST00000544241.2_Silent_p.V113V|TCF4_ENST00000570287.2_Silent_p.V24V|TCF4_ENST00000537578.1_Silent_p.V160V|TCF4_ENST00000568740.1_Silent_p.V159V	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	184					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		ATGGAGCATAGACCTGAGGAG	0.478000													15	79					0	0	0.000422831	0	0
LAX1	54900	broad.mit.edu	37	1	203743613	203743613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:203743613G>A	ENST00000442561.2	+	5	1391	c.1001G>A	c.(1000-1002)tGt>tAt	p.C334Y	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.C318Y	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	334					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CATGTCCAATGTGTCAAAAGG	0.478000													53	99					0	0	0.000781405	0	0
STXBP4	252983	broad.mit.edu	37	17	53237186	53237186	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:53237186C>T	ENST00000376352.2	+	18	1783	c.1576C>T	c.(1576-1578)Cat>Tat	p.H526Y	STXBP4_ENST00000434978.2_Missense_Mutation_p.H504Y	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	526	WW.					cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						ATCCTGGATCCATCCCGTGAT	0.433000													21	14					0	0	0.00047179	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110412520	110412520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:110412520G>A	ENST00000378402.5	+	13	1332	c.1228G>A	c.(1228-1230)Ggt>Agt	p.G410S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	410					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTACATCAAGGGTGATGACCG	0.383000										HNSCC(38;0.096)			22	86					0	0	0.00278032	0	0
SULT1A1	6817	broad.mit.edu	37	16	28619845	28619845	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:28619845G>A	ENST00000395609.1	-	5	986	c.228C>T	c.(226-228)ttC>ttT	p.F76F	SULT1A1_ENST00000395607.1_Silent_p.F76F|SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Silent_p.F76F|SULT1A1_ENST00000314752.7_Silent_p.F76F			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	76					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						GCACCCGCATGAAGATGGGAG	0.592000													31	13					0	0	0.00283554	0	0
ROS1	6098	broad.mit.edu	37	6	117718260	117718260	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:117718260C>T	ENST00000368508.3	-	7	795	c.597G>A	c.(595-597)ttG>ttA	p.L199L	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.L208L	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	199	Fibronectin type-III 2.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TATTCCTAATCAAAGGTGCAG	0.403000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								17	25					0	0	0.000958276	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221068	140221068	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140221068G>A	ENST00000531613.1	+	1	162	c.162G>A	c.(160-162)ctG>ctA	p.L54L	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.L54L|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGGGGCTGGAGCTGGCGG	0.637000													42	73					0	0	0.00222228	0	0
CEP290	80184	broad.mit.edu	37	12	88482980	88482980	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:88482980G>A	ENST00000552810.1	-	31	4201	c.3858C>T	c.(3856-3858)ttC>ttT	p.F1286F	CEP290_ENST00000547691.2_Silent_p.F346F|CEP290_ENST00000397838.3_Silent_p.F346F|CEP290_ENST00000309041.7_Silent_p.F1288F	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1286					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTGTTTTGGAGAACTTTTCCT	0.368000													9	23					0	0	0.000274275	0	0
GPR133	283383	broad.mit.edu	37	12	131490580	131490580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:131490580C>T	ENST00000261654.5	+	12	1878	c.1319C>T	c.(1318-1320)cCc>cTc	p.P440L	GPR133_ENST00000535015.1_Missense_Mutation_p.P472L|GPR133_ENST00000376682.4_Missense_Mutation_p.P126L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	440					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AACATCTGGCCCGCCCACACC	0.657000													6	27					0	0	0.00116845	0	0
SOGA3	387104	broad.mit.edu	37	6	127796668	127796668	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:127796668C>T	ENST00000556132.1	-	6	3367	c.2503G>A	c.(2503-2505)Gac>Aac	p.D835N	SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000465909.2_Missense_Mutation_p.D835N|SOGA3_ENST00000368268.2_Missense_Mutation_p.D835N|SOGA3_ENST00000525778.1_Missense_Mutation_p.D835N|SOGA3_ENST00000481848.2_Missense_Mutation_p.D835N	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	835						integral to membrane											GTGCTCGTGTCGGCGATGAGC	0.672000													38	52					0	0	0.00222228	0	0
VGLL3	389136	broad.mit.edu	37	3	87018183	87018183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:87018183C>T	ENST00000398399.2	-	3	857	c.494G>A	c.(493-495)gGa>gAa	p.G165E	VGLL3_ENST00000383698.3_Missense_Mutation_p.G165E	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AGGATGAACTCCCCCCAAACA	0.577000													27	122					0	0	0.00106085	0	0
NUP210	23225	broad.mit.edu	37	3	13415266	13415266	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:13415266C>T	ENST00000254508.5	-	12	1621	c.1539G>A	c.(1537-1539)gtG>gtA	p.V513V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	513					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GTGCCTGGATCACACTGAACC	0.567000													16	14					0	0	0.00074312	0	0
CNGA1	1259	broad.mit.edu	37	4	47939467	47939467	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:47939467T>A	ENST00000402813.3	-	10	1393	c.1251A>T	c.(1249-1251)aaA>aaT	p.K417N	CNGA1_ENST00000420489.2_Missense_Mutation_p.K348N|CNGA1_ENST00000514170.1_Missense_Mutation_p.K348N|CNGA1_ENST00000358519.4_Missense_Mutation_p.K348N|CNGA1_ENST00000544810.1_Missense_Mutation_p.K348N			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	348					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TGTATACGTATTTTCTAGCCA	0.413000													44	76					0	0	0.00285205	0	0
DPRX	503834	broad.mit.edu	37	19	54140070	54140070	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:54140070C>T	ENST00000376650.1	+	3	455	c.404C>T	c.(403-405)cCc>cTc	p.P135L		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	135						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		ATCCTGTACCCCAACCTCAAG	0.517000													30	101					0	0	0.00209593	0	0
GABBR1	2550	broad.mit.edu	37	6	29572397	29572397	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:29572397G>A	ENST00000377034.4	-	22	2921	c.2586C>T	c.(2584-2586)acC>acT	p.T862T	GABBR1_ENST00000377016.4_Silent_p.T800T|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_Silent_p.T745T|GABBR1_ENST00000355973.3_Silent_p.T745T	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	862					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	ATTCCCCTCGGGTGATCAGCC	0.587000													52	32					0	0	0.000781405	0	0
MGAM	8972	broad.mit.edu	37	7	141759342	141759342	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:141759342G>A	ENST00000475668.2	+	32	3944	c.3890G>A	c.(3889-3891)gGg>gAg	p.G1297E	MGAM_ENST00000549489.2_Missense_Mutation_p.G1297E			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1297	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAGTTTGCTGGGTTTCCAGCT	0.557000													55	33					0	0	0.000781405	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137564	40137564	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:40137564C>T	ENST00000278198.2	-	2	2242	c.279G>A	c.(277-279)gtG>gtA	p.V93V	LRRC4C_ENST00000530763.1_Silent_p.V93V|LRRC4C_ENST00000528697.1_Silent_p.V93V|LRRC4C_ENST00000527150.1_Silent_p.V93V			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	93					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGAAGCTGTTCACTTTGATGA	0.468000													30	35					0	0	0.00283554	0	0
LDB3	11155	broad.mit.edu	37	10	88439220	88439220	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:88439220G>A	ENST00000429277.2	+	3	335	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	LDB3_ENST00000372056.4_Missense_Mutation_p.E64K|LDB3_ENST00000542786.1_Missense_Mutation_p.E64K|LDB3_ENST00000458213.2_Missense_Mutation_p.E64K|LDB3_ENST00000310944.6_Missense_Mutation_p.E64K|LDB3_ENST00000361373.4_Missense_Mutation_p.E64K|LDB3_ENST00000263066.6_Missense_Mutation_p.E64K|LDB3_ENST00000372066.3_Missense_Mutation_p.E64K|LDB3_ENST00000352360.5_Missense_Mutation_p.E64K	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	64	PDZ.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GACCCACCTGGAAGCCCAGAA	0.602000													28	22					0	0	0.00106085	0	0
HDC	3067	broad.mit.edu	37	15	50546385	50546385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:50546385C>T	ENST00000267845.3	-	6	1064	c.662G>A	c.(661-663)gGg>gAg	p.G221E	HDC_ENST00000543581.1_Missense_Mutation_p.G221E	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	221					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AAGAGCTTCCCCTCGGAGTGA	0.493000													26	17					0	0	0.000720815	0	0
TTN	7273	broad.mit.edu	37	2	179648929	179648929	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179648929G>A	ENST00000589042.1	-	16	2867	c.2643C>T	c.(2641-2643)ttC>ttT	p.F881F	TTN_ENST00000360870.5_Silent_p.F881F|TTN_ENST00000591111.1_Silent_p.F881F|TTN_ENST00000359218.5_Silent_p.F835F|TTN_ENST00000342175.6_Silent_p.F835F|TTN_ENST00000342992.6_Silent_p.F881F|TTN_ENST00000460472.2_Silent_p.F835F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	881							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.F835L(3)|p.F881L(3)		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)			CAGCGAAGGGGAACTGTGGCA	0.537000													13	52					0	0	0.00185496	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629808	9629808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:9629808G>A	ENST00000382492.2	-	1	655	c.337C>T	c.(337-339)Cca>Tca	p.P113S	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	113					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						ATGAAGAGTGGGTGACGGACG	0.443000													22	6					0	0	0.00152264	0	0
NKD2	85409	broad.mit.edu	37	5	1038363	1038363	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:1038363G>A	ENST00000296849.5	+	10	1460	c.1231G>A	c.(1231-1233)Gtg>Atg	p.V411M	NKD2_ENST00000382730.2_Missense_Mutation_p.G50D|NKD2_ENST00000274150.4_3'UTR	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	411					exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GCACGAGGTGGTGCGGGACCT	0.692000													5	4					0	0	0.00116845	0	0
MYH2	4620	broad.mit.edu	37	17	10432385	10432385	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:10432385C>T	ENST00000245503.5	-	27	3750	c.3366G>A	c.(3364-3366)gaG>gaA	p.E1122E	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.E1122E	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1122					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTCCAGCTCCTCAATGCGGG	0.552000													12	15					0	0	0.00185496	0	0
RYR1	6261	broad.mit.edu	37	19	38959949	38959949	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:38959949C>T	ENST00000355481.4	+	27	3692	c.3561C>T	c.(3559-3561)ttC>ttT	p.F1187F	RYR1_ENST00000359596.3_Silent_p.F1187F|RYR1_ENST00000360985.3_Silent_p.F1187F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1187	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	cACCAGGCTTCCTGCCCGTCT	0.647000													40	52					0	0	0.00148497	0	0
TRIM8	81603	broad.mit.edu	37	10	104416920	104416920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:104416920C>T	ENST00000302424.6	+	6	1587	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	489						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCCCTACCCCCGCTCCGGCCA	0.652000													8	14					0	0	0.000157383	0	0
WDR72	256764	broad.mit.edu	37	15	53908078	53908078	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:53908078G>A	ENST00000396328.1	-	15	2564	c.2325C>T	c.(2323-2325)tcC>tcT	p.S775S	WDR72_ENST00000557913.1_Silent_p.S772S|WDR72_ENST00000360509.5_Silent_p.S775S|WDR72_ENST00000559418.1_Silent_p.S785S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	775										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GCATTTTTTTGGAGATCTTCA	0.403000													14	36					0	0	0.000566183	0	0
LAMB3	3914	broad.mit.edu	37	1	209796966	209796966	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:209796966C>T	ENST00000391911.1	-	15	2631	c.2242G>A	c.(2242-2244)Gag>Aag	p.E748K	LAMB3_ENST00000367030.3_Missense_Mutation_p.E748K|LAMB3_ENST00000356082.4_Missense_Mutation_p.E748K	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	748	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTCTCTGCCTCTCTCCGGCTG	0.657000													6	47					0	0	0.000566183	0	0
TRIP6	7205	broad.mit.edu	37	7	100468258	100468258	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:100468258C>T	ENST00000200457.4	+	6	1252	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	298	LIM zinc-binding 1.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCCCTTGATCGCGTCTTTCA	0.597000													75	8					0	0	0.000781405	0	0
MAB21L3	126868	broad.mit.edu	37	1	116675916	116675916	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:116675916C>T	ENST00000369500.3	+	7	1284	c.1019C>T	c.(1018-1020)cCg>cTg	p.P340L		NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	340										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						TGCACCAACCCGACTGAACTG	0.587000													17	113					0	0	0.00229938	0	0
MYH8	4626	broad.mit.edu	37	17	10312654	10312654	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:10312654C>T	ENST00000403437.2	-	16	1933	c.1839G>A	c.(1837-1839)caG>caA	p.Q613Q	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	613	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGCAGACTTCTGGTACAGCC	0.443000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				43	7					0	0	0.00285205	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10532044	10532044	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:10532044G>A	ENST00000396560.2	+	5	1274	c.1047G>A	c.(1045-1047)ggG>ggA	p.G349G	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Silent_p.G349G|ATF7IP2_ENST00000324570.5_Silent_p.G349G|ATF7IP2_ENST00000356427.2_Silent_p.G349G	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						AACGCATTGGGAAGACAGAGT	0.343000													27	47					0	0	0.00127121	0	0
XIST	7503	broad.mit.edu	37	X	73072305	73072305	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:73072305C>T	ENST00000429829.1	-	0	283					NR_001564.2																						AGAAAAATTCCTTAAATATTA	0.308000													9	0					0	0	0.000673444	0	0
ACTG1P17	283693	broad.mit.edu	37	15	83395189	83395189	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:83395189G>A	ENST00000560958.1	-	0	1097					NR_036446.1																						CTTGTGCTCAGAGACAGCCAT	0.547000													3	4					0	0	6.4e-05	0	0
PROM2	150696	broad.mit.edu	37	2	95954681	95954681	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:95954681C>T	ENST00000317620.9	+	23	2575	c.2441_splice	c.e23-1	p.S814_splice	PROM2_ENST00000403131.2_Splice_Site_p.S814_splice|PROM2_ENST00000317668.4_Splice_Site_p.S814_splice|PROM2_ENST00000542147.1_Splice_Site_p.S765_splice	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	814						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GACACTGCAGCTCCACCAGCT	0.577000													24	89					0	0	0.000878237	0	0
ATP8B4	79895	broad.mit.edu	37	15	50226266	50226266	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:50226266G>A	ENST00000284509.6	-	15	1542	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	ATP8B4_ENST00000559829.1_Silent_p.F467F	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	467					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GTAACCTAAGGAATTCATGAA	0.388000													6	24					0	0	0.000274275	0	0
NOS1	4842	broad.mit.edu	37	12	117657984	117657984	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:117657984C>T	ENST00000317775.6	-	27	4751	c.4066G>A	c.(4066-4068)Gac>Aac	p.D1356N	NOS1_ENST00000338101.4_Missense_Mutation_p.D1390N|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1356					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATGGTGACGTCCCCACAGACG	0.602000													46	116					0	0	0.000781405	0	0
PCDHA8	56140	broad.mit.edu	37	5	140223341	140223341	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140223341G>A	ENST00000378123.3	+	1	2435	c.2435G>A	c.(2434-2436)tGg>tAg	p.W812*	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_031856.1	NP_114062.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTATTTGTGGAAATTGTAG	0.279000													13	46					0	0	0.00185496	0	0
SYN3	8224	broad.mit.edu	37	22	33260955	33260955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:33260955G>A	ENST00000358763.2	-	6	900	c.658C>T	c.(658-660)Cct>Tct	p.P220S	SYN3_ENST00000332840.5_Missense_Mutation_p.P220S	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	220	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AACTTCTCAGGACCCAGGGAA	0.433000													45	279					0	0	0.000781405	0	0
KATNBL1	79768	broad.mit.edu	37	15	34445050	34445050	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:34445050C>T	ENST00000256544.3	-	4	521	c.379G>A	c.(379-381)Gat>Aat	p.D127N		NM_024713.2	NP_078989.1			katanin p80 subunit B-like 1																		GAACCAGAATCACTGGAGTTA	0.388000													27	20					0	0	0.00106085	0	0
LY75	4065	broad.mit.edu	37	2	160664998	160664998	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:160664998G>A	ENST00000263636.4	-	33	4811	c.4784C>T	c.(4783-4785)aCc>aTc	p.T1595I	LY75-CD302_ENST00000504764.1_Missense_Mutation_p.T1595I|LY75_ENST00000553424.1_Missense_Mutation_p.T1595I|LY75_ENST00000554112.1_Missense_Mutation_p.T1595I|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.T1595I	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AACTCTCATGGTAATGTTATT	0.338000													21	76					0	0	0.00152264	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616557	77616557	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:77616557G>A	ENST00000521891.2	+	2	682	c.234G>A	c.(232-234)aaG>aaA	p.K78K	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.K78K|ZFHX4_ENST00000050961.6_Silent_p.K78K|ZFHX4_ENST00000455469.2_Silent_p.K78K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	78						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTCAGCAAAGGAGATACCCT	0.502000										HNSCC(33;0.089)			29	89					0	0	0.001512	0	0
ASB15	142685	broad.mit.edu	37	7	123257713	123257713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:123257713G>A	ENST00000451558.1	+	9	894	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000540573.1_Missense_Mutation_p.E125K|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000434204.1_Missense_Mutation_p.E125K|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000275699.3_Missense_Mutation_p.E125K|ASB15_ENST00000451215.1_Missense_Mutation_p.E125K			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	125					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TGGTCTGGTGGAAAATGTAAG	0.408000													25	73					0	0	0.000586117	0	0
PDILT	204474	broad.mit.edu	37	16	20373815	20373815	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:20373815C>T	ENST00000302451.4	-	10	1575	c.1327G>A	c.(1327-1329)Gcc>Acc	p.A443T		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	443	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TCGATCTTGGCAATGATAATT	0.483000													19	31					0	0	0.00121646	0	0
PDE7B	27115	broad.mit.edu	37	6	136508200	136508200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:136508200G>A	ENST00000308191.6	+	12	1375	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	358	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.E358Q(1)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	ATTTGAACTGGAAATCAGTCC	0.289000													23	37					0	0	0.000586117	0	0
NTNG1	22854	broad.mit.edu	37	1	107937869	107937869	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:107937869G>A	ENST00000370067.1	+	4	1608	c.981G>A	c.(979-981)ggG>ggA	p.G327G	NTNG1_ENST00000370070.2_Silent_p.G327G|NTNG1_ENST00000370074.4_Silent_p.G327G|NTNG1_ENST00000370068.1_Silent_p.G327G|NTNG1_ENST00000370061.3_Silent_p.G327G|NTNG1_ENST00000542803.1_Silent_p.G327G|NTNG1_ENST00000370071.2_Silent_p.G327G|NTNG1_ENST00000370073.2_Silent_p.G327G|NTNG1_ENST00000370072.3_Silent_p.G327G|NTNG1_ENST00000370066.1_Silent_p.G327G|NTNG1_ENST00000370065.1_Silent_p.G327G			Q9Y2I2	NTNG1_HUMAN	netrin G1	327	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CAGACTGTGGGAAATGCAAGA	0.483000													16	113					0	0	0.000422831	0	0
TICAM1	148022	broad.mit.edu	37	19	4816466	4816466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:4816466G>A	ENST00000248244.5	-	2	2153	c.1924C>T	c.(1924-1926)Cca>Tca	p.P642S		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	642	Pro-rich.|Sufficient to induce apoptosis.			Missing (in Ref. 6; AAO85488).	apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GAGGGCGGTGGGGGGGTGCCA	0.731000													5	17					0	0	0.000602214	0	0
DNAH11	8701	broad.mit.edu	37	7	21920455	21920455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:21920455G>A	ENST00000328843.6	+	76	12383	c.12352G>A	c.(12352-12354)Gga>Aga	p.G4118R	DNAH11_ENST00000409508.3_Missense_Mutation_p.G4111R			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4118	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTTAATCCTGGAGACCTCAC	0.468000									Kartagener syndrome				14	59					0	0	0.000308642	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77042686	77042686	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:77042686C>T	ENST00000339142.2	+	4	760	c.205C>T	c.(205-207)Cct>Tct	p.P69S	C1QTNF1_ENST00000583904.1_Missense_Mutation_p.P69S|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.P69S|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.P69S|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.P69S|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.P69S|C1QTNF1_ENST00000578229.1_5'UTR|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.P69S|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.P79S|C1QTNF1_ENST00000311661.4_5'UTR	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	69						collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			CCAGGGGCTCCCTGCTTCCCG	0.557000											OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	92					0	0	0.00148497	0	0
OR4N5	390437	broad.mit.edu	37	14	20612589	20612589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:20612589G>A	ENST00000333629.1	+	1	695	c.695G>A	c.(694-696)gGa>gAa	p.G232E		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TCCTCTGAAGGAAAGAGCAAG	0.493000													42	21					0	0	0.00148497	0	0
TCTN2	79867	broad.mit.edu	37	12	124163773	124163773	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:124163773C>T	ENST00000303372.5	+	5	629	c.501C>T	c.(499-501)ccC>ccT	p.P167P	TCTN2_ENST00000426174.2_Silent_p.P166P	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	167					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TGTATCAGCCCCTTGGCCCTT	0.438000													58	116					0	0	0.000781405	0	0
FAM83C	128876	broad.mit.edu	37	20	33879595	33879595	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:33879595C>T	ENST00000374408.3	-	1	609	c.513_splice	c.e1+1	p.T171_splice		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	171										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			aGGCCCTTACCGTGTGGGCCT	0.597000													29	80					0	0	0.0024448	0	0
DSG3	1830	broad.mit.edu	37	18	29039109	29039109	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:29039109C>T	ENST00000257189.4	+	5	569	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	162	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AACAAATTTTCATGGGTGAAA	0.323000													8	52					0	0	0.000442599	0	0
MAST4	375449	broad.mit.edu	37	5	66124697	66124697	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:66124697G>A	ENST00000403666.1	+	1	94	c.26G>A	c.(25-27)cGa>cAa	p.R9Q	MAST4_ENST00000406374.1_Intron|MAST4_ENST00000406039.1_Intron|MAST4_ENST00000490016.2_Missense_Mutation_p.R9Q|MAST4_ENST00000404260.3_Intron|MAST4_ENST00000403625.2_Intron	NM_015183.2	NP_055998.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1266						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ATTCTAAGACGAAGAGGGCTC	0.483000													6	4					0	0	0.000274275	0	0
NYNRIN	57523	broad.mit.edu	37	14	24879333	24879333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:24879333C>T	ENST00000382554.3	+	4	2651	c.2333C>T	c.(2332-2334)cCc>cTc	p.P778L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	778					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGAATACACCCTTCGAGCTG	0.632000													12	34					0	0	0.00136819	0	0
SYT10	341359	broad.mit.edu	37	12	33535294	33535294	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:33535294C>T	ENST00000228567.3	-	5	1656	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N	SYT10_ENST00000535526.1_Missense_Mutation_p.D273N	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	454	C2 2.					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)					CTATCGTAATCCATGACCGCA	0.458000													20	18					0	0	0.00188189	0	0
VPS13B	157680	broad.mit.edu	37	8	100887729	100887729	+	Silent	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:100887729C>A	ENST00000358544.2	+	62	12015	c.11904C>A	c.(11902-11904)gcC>gcA	p.A3968A	VPS13B_ENST00000357162.2_Silent_p.A3943A|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3968					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTCACCTGGCCCCCAGCTGTT	0.483000													48	29					2.43468e-25	9.02532e-25	0.000781405	1	0
APOB	338	broad.mit.edu	37	2	21249778	21249778	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:21249778C>T	ENST00000233242.1	-	15	2253	c.2126G>A	c.(2125-2127)gGa>gAa	p.G709E	APOB_ENST00000399256.4_Missense_Mutation_p.G709E	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	709					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGGAAAAATCCTTGCTTCCC	0.418000													130	399					0	0	0.000781405	0	0
KRT14	3861	broad.mit.edu	37	17	39743049	39743049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:39743049G>A	ENST00000167586.6	-	1	124	c.38C>T	c.(37-39)tCc>tTc	p.S13F		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	13	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GCCCTTCATGGAGCTGGAGGA	0.682000													3	4					0	0	0.000602214	0	0
PLCH1	23007	broad.mit.edu	37	3	155215207	155215207	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:155215207C>T	ENST00000460012.1	-	15	2064		c.e15-1		PLCH1_ENST00000340059.7_Splice_Site|PLCH1_ENST00000447496.2_Splice_Site|PLCH1_ENST00000414191.1_Splice_Site|PLCH1_ENST00000334686.6_Splice_Site|PLCH1_ENST00000494598.1_Splice_Site			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1						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)			GCGACCCAATCTGTGAAGTAC	0.458000													21	42					0	0	0.00152264	0	0
ATG7	10533	broad.mit.edu	37	3	11356878	11356878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:11356878C>T	ENST00000354449.3	+	7	614	c.589C>T	c.(589-591)Cct>Tct	p.P197S	ATG7_ENST00000354956.5_Missense_Mutation_p.P197S|ATG7_ENST00000446450.2_Missense_Mutation_p.P158S	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	197					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CACAGCTCTTCCTTACTTCTT	0.373000													9	33					0	0	0.000442599	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92973279	92973279	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:92973279G>A	ENST00000268164.3	+	2	336	c.98_splice	c.e2-1	p.G33_splice	ST8SIA2_ENST00000539113.1_Intron	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	33					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TGTCTTGCAGGAATTCGGGAG	0.403000													16	27					0	0	0.00074312	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39425373	39425373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:39425373C>T	ENST00000216099.7	+	5	1018	c.611C>T	c.(610-612)cCg>cTg	p.P204L	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.P204L	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	204					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CTCAGAAACCCGATGGAGGCA	0.522000													79	105					0	0	0.000781405	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948498	119948498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:119948498C>T	ENST00000307142.4	+	3	1170	c.974C>T	c.(973-975)tCc>tTc	p.S325F	SYNPO2_ENST00000429713.2_Missense_Mutation_p.S325F|SYNPO2_ENST00000434046.2_Missense_Mutation_p.S325F|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	325						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCTCTGGTATCCTTTGCCGTC	0.557000													11	29					0	0	0.00136819	0	0
PRX	57716	broad.mit.edu	37	19	40903778	40903778	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:40903778G>A	ENST00000324001.7	-	7	751	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	161	Arg/Lys-rich (basic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGAACTTGGGAAAGGAGAAC	0.667000													12	13					0	0	0.000978159	0	0
TTN	7273	broad.mit.edu	37	2	179614349	179614349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179614349C>T	ENST00000360870.5	-	46	13000	c.12778G>A	c.(12778-12780)Gaa>Aaa	p.E4260K	TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	411							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)			CCAATATTTTCGAATTGACTA	0.373000													8	21					0	0	0.000157383	0	0
PKD1L2	114780	broad.mit.edu	37	16	81198262	81198262	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:81198262G>A	ENST00000533478.1	-	0	1387				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TATATCCACGGGCTCCTGGCC	0.547000													32	57					0	0	0.000692331	0	0
DNAH7	56171	broad.mit.edu	37	2	196788418	196788418	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:196788418C>T	ENST00000312428.6	-	23	3826	c.3726G>A	c.(3724-3726)ctG>ctA	p.L1242L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1242	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATGGACATCCAGTACCACAA	0.408000													11	55					0	0	0.00136819	0	0
ZBED2	79413	broad.mit.edu	37	3	111312580	111312580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:111312580C>T	ENST00000317012.4	-	2	1477	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	157							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						ACCTCCTTTTCCCTTTGGCTG	0.627000													23	47					0	0	0.00106085	0	0
EPG5	57724	broad.mit.edu	37	18	43524015	43524015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:43524015G>A	ENST00000282041.5	-	8	1782	c.1748C>T	c.(1747-1749)cCc>cTc	p.P583L		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	583					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TTCATGAAAGGGGAACTGTGC	0.388000													12	87					0	0	0.00185496	0	0
RIMS2	9699	broad.mit.edu	37	8	105260975	105260975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:105260975G>A	ENST00000507740.1	+	19	3201	c.2965G>A	c.(2965-2967)Gat>Aat	p.D989N	RIMS2_ENST00000339750.2_Missense_Mutation_p.D111N|RIMS2_ENST00000436393.2_Missense_Mutation_p.D1193N|RIMS2_ENST00000406091.3_Missense_Mutation_p.D1175N|RIMS2_ENST00000262231.10_Missense_Mutation_p.D1014N	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1237					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCAGTTCAGTGATTTCCTGGA	0.458000										HNSCC(12;0.0054)			17	73					0	0	0.00278032	0	0
PANX1	24145	broad.mit.edu	37	11	93911716	93911716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:93911716G>A	ENST00000227638.3	+	3	888	c.503G>A	c.(502-504)gGa>gAa	p.G168E	PANX1_ENST00000436171.2_Missense_Mutation_p.G168E	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	168					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATGAGAGATGGAGCCTGCTCA	0.473000													12	13					0	0	0.00244969	0	0
IGKV1D-8	28904	broad.mit.edu	37	2	90260245	90260245	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:90260245C>T	ENST00000471857.1	+	0	529																											ATTATAGTTTCCCTCCCACAG	0.498000													19	73					0	0	0.00121646	0	0
MUC16	94025	broad.mit.edu	37	19	9074153	9074153	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9074153G>A	ENST00000397910.4	-	3	13496	c.13293C>T	c.(13291-13293)ctC>ctT	p.L4431L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4433	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTTGCTTATGAGAGTGGTCT	0.488000													26	104					0	0	0.000720815	0	0
HEATR2	54919	broad.mit.edu	37	7	825182	825182	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:825182C>T	ENST00000297440.6	+	13	2480	c.2460C>T	c.(2458-2460)ttC>ttT	p.F820F	HEATR2_ENST00000313147.5_Intron|HEATR2_ENST00000403952.3_Silent_p.F245F	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	820							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GCGGGCTGTTCCCAGATCTCC	0.552000													72	106					0	0	0.000781405	0	0
OR6C76	390326	broad.mit.edu	37	12	55820232	55820232	+	Silent	SNP	C	C	T	rs139871766	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:55820232C>T	ENST00000328314.3	+	1	195	c.195C>T	c.(193-195)tcC>tcT	p.S65S		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGAATTTCTCCTTGGAAATTT	0.408000													39	19					0	0	0.000953801	0	0
CYP7B1	9420	broad.mit.edu	37	8	65517309	65517309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:65517309C>T	ENST00000310193.3	-	5	1336	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	388					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GTCTCCCTTTCGCACACAGTA	0.453000													32	47					0	0	0.0024448	0	0
COL21A1	81578	broad.mit.edu	37	6	55932118	55932118	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:55932118C>T	ENST00000244728.5	-	23	2499	c.2102G>A	c.(2101-2103)gGa>gAa	p.G701E	COL21A1_ENST00000370819.1_Missense_Mutation_p.G698E|COL21A1_ENST00000370808.2_Missense_Mutation_p.G101E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G701E|COL21A1_ENST00000467045.1_5'UTR	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	701	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACCTTGATTTCCTTTGTCCCC	0.299000													7	8					0	0	0.000442599	0	0
PPFIA2	8499	broad.mit.edu	37	12	81688756	81688756	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:81688756C>T	ENST00000550584.2	-	23	3078	c.2783G>A	c.(2782-2784)gGt>gAt	p.G928D	PPFIA2_ENST00000549396.1_Missense_Mutation_p.G928D|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.G775D|PPFIA2_ENST00000541570.2_Missense_Mutation_p.G495D|PPFIA2_ENST00000548586.1_Missense_Mutation_p.G928D|PPFIA2_ENST00000549325.1_Missense_Mutation_p.G913D|PPFIA2_ENST00000443686.3_Missense_Mutation_p.G829D|PPFIA2_ENST00000541017.1_Missense_Mutation_p.G145D|PPFIA2_ENST00000552948.1_Missense_Mutation_p.G928D|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000407050.4_Missense_Mutation_p.G854D|PPFIA2_ENST00000333447.7_Missense_Mutation_p.G913D	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	854										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CATGATGGCACCACTCTTCAC	0.438000													9	9					0	0	0.00136819	0	0
FBLN5	10516	broad.mit.edu	37	14	92344001	92344001	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:92344001G>A	ENST00000267620.10	-	11	1307	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	FBLN5_ENST00000342058.4_Missense_Mutation_p.P339S|FBLN5_ENST00000556154.1_Missense_Mutation_p.P344S			Q9UBX5	FBLN5_HUMAN	fibulin 5	339					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				CTGCAGCCAGGGTTCTCAGCA	0.537000													39	48					0	0	0.000781405	0	0
WDR96	80217	broad.mit.edu	37	10	105947241	105947241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:105947241G>A	ENST00000357060.3	-	14	1812	c.1697C>T	c.(1696-1698)aCc>aTc	p.T566I	WDR96_ENST00000428666.1_Missense_Mutation_p.T567I|WDR96_ENST00000278064.2_Missense_Mutation_p.T497I	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	566										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATCAGCAAAGGTTGTGGAAAC	0.328000													16	27					0	0	0.00074312	0	0
EXO1	9156	broad.mit.edu	37	1	242042534	242042534	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:242042534C>T	ENST00000366548.3	+	13	2591	c.1998C>T	c.(1996-1998)ccC>ccT	p.P666P	EXO1_ENST00000348581.5_Silent_p.P666P|EXO1_ENST00000518483.1_Silent_p.P666P	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	666	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGTCTCATCCCTTACGAGAAG	0.468000								Editing and processing nucleases					20	63					0	0	0.00152264	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784900	140784900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140784900C>T	ENST00000573521.1	+	1	2381	c.2381C>T	c.(2380-2382)tCt>tTt	p.S794F	PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCGTCTCTGTTGATTCC	0.418000													20	36					0	0	0.00121646	0	0
PKNOX2	63876	broad.mit.edu	37	11	125301156	125301156	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:125301156G>A	ENST00000298282.9	+	13	1558	c.1287G>A	c.(1285-1287)ttG>ttA	p.L429L	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Silent_p.L365L	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	429	Asp/Glu-rich (acidic).					nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		ATGACTCATTGGATGGGACAg	0.562000													9	15					0	0	0.000442599	0	0
LRFN2	57497	broad.mit.edu	37	6	40399472	40399472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:40399472C>T	ENST00000338305.6	-	2	1923	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	461	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGTACCTCATCGTCAGAGCAG	0.592000													17	7					0	0	0.000958276	0	0
GUCA1B	2979	broad.mit.edu	37	6	42156425	42156425	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:42156425G>A	ENST00000230361.3	-	2	347	c.252C>T	c.(250-252)ctC>ctT	p.L84L		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	84	EF-hand 2.				body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			CCCTCAGCACGAGATTCAGAG	0.552000													11	15					0	0	0.00136819	0	0
GCG	2641	broad.mit.edu	37	2	163000608	163000608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:163000608C>T	ENST00000418842.2	-	5	719	c.465G>A	c.(463-465)atG>atA	p.M155I	GCG_ENST00000375497.3_Missense_Mutation_p.M155I	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	155					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	GAATGGTGTTCATCTCATCAG	0.398000													14	41					0	0	0.000566183	0	0
DNAH10	196385	broad.mit.edu	37	12	124335526	124335526	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:124335526C>T	ENST00000409039.3	+	34	5865	c.5840C>T	c.(5839-5841)tCg>tTg	p.S1947L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1947	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGCCCGAGTCGGTGAAGGCG	0.617000													15	37					0	0	0.000308642	0	0
TMC5	79838	broad.mit.edu	37	16	19451968	19451968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:19451968G>A	ENST00000396229.2	+	3	1357	c.608G>A	c.(607-609)gGa>gAa	p.G203E	TMC5_ENST00000541464.1_Missense_Mutation_p.G203E|TMC5_ENST00000381414.4_Missense_Mutation_p.G203E|TMC5_ENST00000542583.2_Missense_Mutation_p.G203E	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	203						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GACTCTCTGGGAAAGCCTGAT	0.473000													32	40					0	0	0.00283554	0	0
MKRN2	23609	broad.mit.edu	37	3	12623672	12623672	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:12623672C>A	ENST00000170447.7	+	8	1308	c.1171C>A	c.(1171-1173)Ccc>Acc	p.P391T	MKRN2_ENST00000448482.1_Missense_Mutation_p.P389T|MKRN2_ENST00000411987.1_Missense_Mutation_p.P348T	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	391						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						CCGGCATGTCCCCAACAATGA	0.502000													8	239					0.000274275	0.00100609	0.000274275	1	0
PTGS1	5742	broad.mit.edu	37	9	125140279	125140279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:125140279C>T	ENST00000362012.2	+	3	201	c.196C>T	c.(196-198)Ccc>Tcc	p.P66S	PTGS1_ENST00000540753.1_Missense_Mutation_p.P41S|PTGS1_ENST00000373698.5_5'UTR|PTGS1_ENST00000223423.4_Missense_Mutation_p.P66S	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	66	EGF-like.				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CTATTCCGGCCCCAACTGCAC	0.607000													14	66					0	0	0.000308642	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15880414	15880414	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:15880414C>T	ENST00000595525.1	+	0	529				CYP4F24P_ENST00000587443.2_RNA																							TCTTTAGGATCGCGGTCCTTC	0.562000													18	66					0	0	0.00152264	0	0
SLC22A6	9356	broad.mit.edu	37	11	62747342	62747342	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:62747342C>T	ENST00000377871.3	-	7	1382	c.1116G>A	c.(1114-1116)gtG>gtA	p.V372V	SLC22A6_ENST00000458333.2_Silent_p.V372V|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000360421.4_Silent_p.V372V|SLC22A6_ENST00000421062.2_Silent_p.V372V	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	372					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CACCAAAGATCACCTGGATTA	0.567000													23	22					0	0	0.000586117	0	0
CAPN11	11131	broad.mit.edu	37	6	44137222	44137222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:44137222G>A	ENST00000542245.1	+	3	331	c.293G>A	c.(292-294)gGc>gAc	p.G98D	CAPN11_ENST00000398776.1_Missense_Mutation_p.G98D			Q9UMQ6	CAN11_HUMAN	calpain 11	98	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAGGACCTGGGCCCCAACTCC	0.572000													6	6					0	0	0.00116845	0	0
GPR39	2863	broad.mit.edu	37	2	133174800	133174800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:133174800G>A	ENST00000329321.3	+	1	654	c.185G>A	c.(184-186)gGa>gAa	p.G62E		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	62						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGAAGAAAGGATACTTGCAG	0.517000													29	67					0	0	0.00127121	0	0
LOC154761	154761	broad.mit.edu	37	7	143510097	143510097	+	RNA	SNP	G	G	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:143510097G>T	ENST00000494978.1	-	0	1481					NR_015421.1																						ACCAAGGCCAGGAAGCTATCT	0.557000													6	41					3.09899e-07	1.13995e-06	0.000274275	1	0
ARHGAP32	9743	broad.mit.edu	37	11	128840324	128840324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:128840324C>T	ENST00000310343.9	-	22	4741	c.4742G>A	c.(4741-4743)cGg>cAg	p.R1581Q	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1232Q|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1232Q	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1581	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.R1581L(1)|p.R1232L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTGCACTCTCCGGATGGTAGG	0.552000													13	12					0	0	0.00244969	0	0
CLSTN2	64084	broad.mit.edu	37	3	140123497	140123497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:140123497G>A	ENST00000458420.3	+	4	716	c.526G>A	c.(526-528)Gac>Aac	p.D176N		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	176	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CAAGATCTATGACAGCATTCT	0.527000										HNSCC(16;0.037)			23	49					0	0	0.000586117	0	0
ZNF28	7576	broad.mit.edu	37	19	53311333	53311333	+	Silent	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:53311333T>C	ENST00000457749.2	-	3	188	c.69A>G	c.(67-69)aaA>aaG	p.K23K	ZNF28_ENST00000594602.1_Silent_p.K23K|ZNF28_ENST00000414252.2_Intron|ZNF28_ENST00000339844.6_5'UTR|ZNF28_ENST00000360272.4_5'UTR|ZNF28_ENST00000464469.2_5'UTR	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GGTCCAGGCATTTCCACTCCT	0.483000													5	148					0	0	0.000673444	0	0
OR4M1	441670	broad.mit.edu	37	14	20249099	20249099	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:20249099C>T	ENST00000315957.4	+	1	699	c.618C>T	c.(616-618)atC>atT	p.I206I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGTCTGATCTCTGTGGTGT	0.473000													29	117					0	0	0.00209593	0	0
LEPREL1	55214	broad.mit.edu	37	3	189688623	189688623	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:189688623C>T	ENST00000319332.5	-	13	2072	c.1875G>A	c.(1873-1875)atG>atA	p.M625I	LEPREL1_ENST00000427335.2_Missense_Mutation_p.M444I	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	625	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTTAGCATCCATCTCTGTGA	0.308000													10	49					0	0	0.00244969	0	0
DUOX1	53905	broad.mit.edu	37	15	45431792	45431792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:45431792G>A	ENST00000321429.4	+	13	1791	c.1384G>A	c.(1384-1386)Gac>Aac	p.D462N	DUOX1_ENST00000389037.3_Missense_Mutation_p.D462N|DUOX1_ENST00000561166.1_Missense_Mutation_p.D108N	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	462	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCGGAGCAATGACACTGTGAG	0.607000													10	7					0	0	0.000673444	0	0
TRIM17	51127	broad.mit.edu	37	1	228596903	228596903	+	Missense_Mutation	SNP	C	C	T	rs145945297		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:228596903C>T	ENST00000366697.2	-	5	1809	c.853G>A	c.(853-855)Gga>Aga	p.G285R	TRIM17_ENST00000295033.3_Missense_Mutation_p.G285R|TRIM17_ENST00000366698.2_Missense_Mutation_p.G285R|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000456946.2_Missense_Mutation_p.G285R			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	285	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TCAATCTGTCCGGGAACTCTG	0.602000													34	136					0	0	0.00128727	0	0
ITGA1	3672	broad.mit.edu	37	5	52240865	52240865	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:52240865G>A	ENST00000282588.6	+	27	3836	c.3378_splice	c.e27+1	p.E1126_splice	CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1126					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AAAAAAGAGAGGTAAGTGCAA	0.338000													47	118					0	0	0.000781405	0	0
RGR	5995	broad.mit.edu	37	10	86014182	86014182	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:86014182A>C	ENST00000359452.4	+	5	663	c.625A>C	c.(625-627)Aag>Cag	p.K209Q	RGR_ENST00000358110.5_Missense_Mutation_p.K205Q	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	205					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						GAAACTGGGGAAGAGTGGCCA	0.522000													28	21					0	0	0.00127121	0	0
MUC16	94025	broad.mit.edu	37	19	9086274	9086274	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9086274G>A	ENST00000397910.4	-	1	5744	c.5541C>T	c.(5539-5541)ctC>ctT	p.L1847L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1847	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L1847L(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCCATGGCTGAGGTCAAGTG	0.502000													11	51					0	0	0.000978159	0	0
ZNF41	7592	broad.mit.edu	37	X	47308035	47308035	+	Silent	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:47308035T>G	ENST00000377065.4	-	5	1773	c.1134A>C	c.(1132-1134)acA>acC	p.T378T	ZNF41_ENST00000313116.7_Silent_p.T378T|ZNF41_ENST00000397050.2_Silent_p.T388T	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	420						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GTTTTTCTCCTGTATGAATTC	0.403000													44	2					0	0	0.000680045	0	0
WARS2	10352	broad.mit.edu	37	1	119576822	119576822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:119576822G>A	ENST00000369426.5	-	5	533	c.530C>T	c.(529-531)cCt>cTt	p.P177L	WARS2_ENST00000235521.4_Missense_Mutation_p.P177L|WARS2_ENST00000537870.1_Missense_Mutation_p.P83L			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	177					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CTCCCCAACAGGAACGTGTGT	0.443000													16	88					0	0	0.000566183	0	0
SPEG	10290	broad.mit.edu	37	2	220354402	220354402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:220354402C>T	ENST00000312358.7	+	36	8794	c.8662C>T	c.(8662-8664)Cct>Tct	p.P2888S	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2888	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCCTCCACTCCTCAAGGGGT	0.627000													51	154					0	0	0.000781405	0	0
GFPT2	9945	broad.mit.edu	37	5	179743354	179743354	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:179743354G>A	ENST00000253778.8	-	13	1429	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	420	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	ACTGGCTGATGAAAAAGCAAA	0.493000													7	23					0	0	0.000157383	0	0
TRAV8-2	28684	broad.mit.edu	37	14	22315350	22315350	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:22315350G>A	ENST00000390434.3	+	0	513																											TCCACCTGACGAAACCCTCAG	0.512000													14	40					0	0	0.000958276	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751143	140751143	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140751143C>T	ENST00000576222.1	+	1	1313	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTTAAAATCGTTCAAGATA	0.453000													12	30					0	0	0.00136819	0	0
WDR75	84128	broad.mit.edu	37	2	190324142	190324142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:190324142C>T	ENST00000314761.4	+	8	830	c.770C>T	c.(769-771)tCa>tTa	p.S257L		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	257						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TTGGCTTTTTCAGTGACAGGT	0.294000													22	93					0	0	0.000586117	0	0
KIAA1217	56243	broad.mit.edu	37	10	24822121	24822121	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:24822121G>A	ENST00000376451.2	+	11	2678	c.2418G>A	c.(2416-2418)gaG>gaA	p.E806E	KIAA1217_ENST00000458595.1_Silent_p.E1088E|KIAA1217_ENST00000376462.1_Silent_p.E1043E|KIAA1217_ENST00000396445.1_Silent_p.E806E|KIAA1217_ENST00000376454.3_Silent_p.E1123E|KIAA1217_ENST00000376452.3_Silent_p.E1087E|KIAA1217_ENST00000396446.1_Silent_p.E806E|KIAA1217_ENST00000307544.6_Silent_p.E806E			Q5T5P2	SKT_HUMAN	KIAA1217	1123					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAAAGGATGAGGAGGAAGAAG	0.547000													13	20					0	0	0.000308642	0	0
MYO5C	55930	broad.mit.edu	37	15	52531999	52531999	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:52531999G>A	ENST00000261839.7	-	21	2795	c.2634C>T	c.(2632-2634)atC>atT	p.I878I	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	878	IQ 5.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CGAATCGTCGGATACTCTGGA	0.438000													21	25					0	0	0.00152264	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128840323	128840323	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:128840323C>T	ENST00000310343.9	-	22	4742	c.4743G>A	c.(4741-4743)cgG>cgA	p.R1581R	ARHGAP32_ENST00000392657.3_Silent_p.R1232R|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Silent_p.R1232R	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1581	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ACTGCACTCTCCGGATGGTAG	0.547000													13	12					0	0	0.00244969	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30688741	30688741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:30688741G>A	ENST00000215790.7	-	9	1314	c.1150C>T	c.(1150-1152)Ccg>Tcg	p.P384S	TBC1D10A_ENST00000403477.3_Missense_Mutation_p.P391S|RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.P296S	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	384						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGCCTGGGCGGGGAGCGGCAC	0.657000													54	35					0	0	0.000781405	0	0
EIF3A	8661	broad.mit.edu	37	10	120801559	120801559	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:120801559G>A	ENST00000369144.3	-	19	3600	c.3473C>T	c.(3472-3474)cCc>cTc	p.P1158L	EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.P1124L	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1158	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ACCCCGTCTGGGAAACCGATC	0.478000													20	73					0	0	0.00278032	0	0
DYTN	391475	broad.mit.edu	37	2	207530696	207530696	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:207530696G>A	ENST00000452335.2	-	10	1154	c.1038C>T	c.(1036-1038)tcC>tcT	p.S346S		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	346						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TTTCTTCCTGGGAGGTGTATA	0.413000													31	38					0	0	0.00178596	0	0
TMEM139	135932	broad.mit.edu	37	7	142983219	142983219	+	Missense_Mutation	SNP	C	C	T	rs143413842		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:142983219C>T	ENST00000359333.3	+	2	682	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	TMEM139_ENST00000409102.1_Missense_Mutation_p.R57W|AC073342.12_ENST00000446192.1_RNA|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000410004.1_Missense_Mutation_p.R57W|TMEM139_ENST00000471161.1_Intron|TMEM139_ENST00000409244.1_Missense_Mutation_p.R57W|TMEM139_ENST00000409541.1_Missense_Mutation_p.R57W	NM_001242775.1	NP_001229704.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	57						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					TCTCCTGGTCCGGTTTCTGGA	0.547000													23	91					0	0	0.00188189	0	0
CCDC180	100499483	broad.mit.edu	37	9	100127970	100127970	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:100127970C>T	ENST00000375202.2	+	44	5480	c.4128C>T	c.(4126-4128)atC>atT	p.I1376I	CCDC180_ENST00000529487.1_Silent_p.I1376I|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Silent_p.I1321I|CCDC180_ENST00000395220.1_3'UTR					coiled-coil domain containing 180																		TTAAGGGGATCATCTTGACCC	0.552000													21	94					0	0	0.000720815	0	0
FAM83A	84985	broad.mit.edu	37	8	124219445	124219445	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:124219445C>T	ENST00000518448.1	+	5	2836	c.822C>T	c.(820-822)ttC>ttT	p.F274F	FAM83A_ENST00000522648.1_Silent_p.F218F|FAM83A_ENST00000276699.6_Silent_p.F274F|FAM83A_ENST00000536633.1_Silent_p.F274F|FAM83A_ENST00000318462.6_Silent_p.F274F|FAM83A_ENST00000546351.1_Silent_p.F218F			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	274										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TCTCCAAGTTCACAGGCCAGG	0.637000													8	38					0	0	0.000274275	0	0
THEMIS	387357	broad.mit.edu	37	6	128134490	128134490	+	Silent	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:128134490T>A	ENST00000368250.1	-	5	1557	c.1059A>T	c.(1057-1059)ggA>ggT	p.G353G	THEMIS_ENST00000537166.1_Silent_p.G397G|THEMIS_ENST00000368248.2_Silent_p.G432G|THEMIS_ENST00000543064.1_Silent_p.G432G			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	432	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CTACAAAACCTCCTTCCATGT	0.443000													18	23					0	0	0.000958276	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106691916	106691916	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:106691916G>A	ENST00000390607.2	-	0	186																											AGAGTCTCAGGGACCCCCCAG	0.587000													21	58					0	0	0.00229938	0	0
DPP4	1803	broad.mit.edu	37	2	162873628	162873628	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:162873628C>T	ENST00000360534.3	-	17	2018	c.1458G>A	c.(1456-1458)gtG>gtA	p.V486V	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	486					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	CTTTATCATTCACGCTGCTGT	0.343000													13	24					0	0	0.00185496	0	0
KEL	3792	broad.mit.edu	37	7	142650939	142650939	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:142650939C>T	ENST00000355265.2	-	9	1503	c.1029G>A	c.(1027-1029)ttG>ttA	p.L343L	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	343					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ACATGTTTTTCAAATATTCCA	0.557000													57	229					0	0	0.000781405	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85521762	85521762	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:85521762A>T	ENST00000393217.2	+	18	4221	c.4160A>T	c.(4159-4161)aAt>aTt	p.N1387I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1387										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAAAGAGAAAATATTGTGAAT	0.348000													56	45					0	0	0.000781405	0	0
ARID1B	57492	broad.mit.edu	37	6	157405823	157405823	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:157405823C>T	ENST00000346085.5	+	6	2066	c.2065C>T	c.(2065-2067)Ccc>Tcc	p.P689S	ARID1B_ENST00000275248.4_Missense_Mutation_p.P618S|ARID1B_ENST00000350026.5_Missense_Mutation_p.P676S|ARID1B_ENST00000367148.1_Missense_Mutation_p.P676S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	676	Ser-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGATGACCTCCCCACGGGAAC	0.502000													20	25					0	0	0.00152264	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826237	43826237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:43826237C>T	ENST00000389420.3	-	21	2965	c.2966G>A	c.(2965-2967)cGa>cAa	p.R989Q	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R989Q|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R143Q	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	989	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATAAGATTCTCGAGACCTTTC	0.368000													14	56					0	0	0.000308642	0	0
FIGN	55137	broad.mit.edu	37	2	164467000	164467000	+	Missense_Mutation	SNP	G	G	A	rs2231904		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:164467000G>A	ENST00000333129.3	-	3	1656	c.1342C>T	c.(1342-1344)Cgt>Tgt	p.R448C	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	448			R -> C (in dbSNP:rs2231904).			nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GTAGCTGCACGGAGTCCAGGG	0.532000													34	45					0	0	0.00209593	0	0
ERBB4	2066	broad.mit.edu	37	2	212251709	212251709	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:212251709G>A	ENST00000342788.4	-	27	3660	c.3350C>T	c.(3349-3351)cCc>cTc	p.P1117L	ERBB4_ENST00000436443.1_Missense_Mutation_p.P1101L|ERBB4_ENST00000402597.1_Missense_Mutation_p.P1107L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1117					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTGGACATGGGGTGCCACTGG	0.562000										TSP Lung(8;0.080)			27	48					0	0	0.001512	0	0
CFTR	1080	broad.mit.edu	37	7	117282597	117282597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:117282597G>A	ENST00000003084.6	+	23	3955	c.3823G>A	c.(3823-3825)Gat>Aat	p.D1275N	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.D1214N	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1275	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGTGTCTTGGGATTCAATAAC	0.403000									Cystic Fibrosis				19	18					0	0	0.00121646	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986310	51986310	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:51986310A>C	ENST00000396477.4	+	4	734	c.713A>C	c.(712-714)gAt>gCt	p.D238A	CEACAM18_ENST00000451626.1_Missense_Mutation_p.D299A	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	299						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AATCCTGATGATTTCAACGGC	0.537000													46	168					0	0	0.000781405	0	0
ABCD1	215	broad.mit.edu	37	X	153001939	153001939	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:153001939C>T	ENST00000218104.3	+	4	1764	c.1365C>T	c.(1363-1365)gtC>gtT	p.V455V	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	455					fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTCTGGTGTCCGTGTGGAGG	0.627000													17	16					0	0	0.00074312	0	0
KRBA1	84626	broad.mit.edu	37	7	149422475	149422475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:149422475C>T	ENST00000255992.10	+	10	1595	c.1196C>T	c.(1195-1197)tCg>tTg	p.S399L	KRBA1_ENST00000319551.8_Missense_Mutation_p.S399L|KRBA1_ENST00000485033.2_Missense_Mutation_p.S399L|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	399										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAAATGGGTCGTCACCTTCC	0.582000													11	11					0	0	0.000978159	0	0
NDUFA9	4704	broad.mit.edu	37	12	4768259	4768259	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:4768259C>T	ENST00000266544.5	+	5	488	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	156					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	CTCAACTGTCCAAGGAAGCTG	0.328000													21	24					0	0	0.00229938	0	0
ARGFX	503582	broad.mit.edu	37	3	121305037	121305037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:121305037C>T	ENST00000334384.3	+	4	548	c.538C>T	c.(538-540)Cca>Tca	p.P180S		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	180						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		CAGCTCCCTTCCATCTCAGCC	0.493000													39	89					0	0	0.0025221	0	0
PRSS1	5644	broad.mit.edu	37	7	142460770	142460770	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:142460770T>G	ENST00000486171.1	+	6	702	c.685T>G	c.(685-687)Tcc>Gcc	p.S229A	PRSS1_ENST00000311737.7_Missense_Mutation_p.S215A			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	215	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AGGAGTTGTCTCCTGGGGTGA	0.502000													19	100					0	0	0.00152264	0	0
ACSS3	79611	broad.mit.edu	37	12	81647101	81647101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:81647101G>A	ENST00000548058.1	+	14	2645	c.1735G>A	c.(1735-1737)Ggt>Agt	p.G579S	ACSS3_ENST00000261206.3_Missense_Mutation_p.G578S|ACSS3_ENST00000548324.1_Missense_Mutation_p.G261S			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	579						mitochondrion	acetate-CoA ligase activity|ATP binding	p.G579C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CCTTTCCCATGGTACCGTGGC	0.363000													82	49					0	0	0.000781405	0	0
SLC22A16	85413	broad.mit.edu	37	6	110759941	110759941	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:110759941G>A	ENST00000368919.3	-	5	1359	c.1293C>T	c.(1291-1293)gtC>gtT	p.V431V	SLC22A16_ENST00000439654.1_Silent_p.V431V|SLC22A16_ENST00000330550.4_Silent_p.V397V	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	431			V -> I (in dbSNP:rs35948062).		acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		TCACCATAACGACACCACAGG	0.458000													27	27					0	0	0.001512	0	0
KIAA1033	23325	broad.mit.edu	37	12	105520946	105520946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:105520946C>T	ENST00000332180.5	+	13	1165	c.1078C>T	c.(1078-1080)Cct>Tct	p.P360S		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	360					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TATTTGGTTTCCTGATAATTT	0.368000													45	26					0	0	0.000781405	0	0
COL6A3	1293	broad.mit.edu	37	2	238253148	238253148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:238253148C>T	ENST00000295550.4	-	36	7965	c.7513G>A	c.(7513-7515)Gga>Aga	p.G2505R	COL6A3_ENST00000353578.4_Missense_Mutation_p.G2299R|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1898R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2305R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2304R|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2299R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2505	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ATTAGGAATCCGTTCCTCACA	0.507000													66	69					0	0	0.000781405	0	0
KERA	11081	broad.mit.edu	37	12	91449601	91449601	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:91449601T>C	ENST00000266719.3	-	2	705	c.458A>G	c.(457-459)aAg>aGg	p.K153R		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	153					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TCTGGACACCTTATTTCTAGC	0.403000													9	6					0	0	0.000442599	0	0
PDYN	5173	broad.mit.edu	37	20	1961157	1961157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:1961157C>T	ENST00000217305.2	-	4	802	c.577G>A	c.(577-579)Ggg>Agg	p.G193R	PDYN_ENST00000539905.1_Missense_Mutation_p.G193R|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.G193R	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	193					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.G193R(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCCCGTCCCCCTCCCCAGCC	0.587000													60	24					0	0	0.000781405	0	0
LAMC3	10319	broad.mit.edu	37	9	133961098	133961098	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:133961098G>A	ENST00000361069.4	+	25	4351	c.4218G>A	c.(4216-4218)aaG>aaA	p.K1406K	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1406	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGTTGGCCAAGGACAGTGCCA	0.637000													6	34					0	0	0.00116845	0	0
OLFML2A	169611	broad.mit.edu	37	9	127563899	127563899	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:127563899C>T	ENST00000373580.3	+	5	876	c.876C>T	c.(874-876)acC>acT	p.T292T	OLFML2A_ENST00000288815.5_Silent_p.T78T	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	292										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GGGGCTTCACCTACTACAAGG	0.637000													25	14					0	0	0.00127121	0	0
LRBA	987	broad.mit.edu	37	4	151356749	151356749	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:151356749C>A	ENST00000535741.1	-	46	7506	c.7033G>T	c.(7033-7035)Gat>Tat	p.D2345Y	LRBA_ENST00000510413.1_Missense_Mutation_p.D2345Y|LRBA_ENST00000357115.3_Missense_Mutation_p.D2356Y|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000507224.1_Missense_Mutation_p.D2345Y			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2356	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ACCTTAATATCAGAGGTATCA	0.358000													66	44					4.09171e-25	1.51625e-24	0.000781405	1	0
CYP4Z1	199974	broad.mit.edu	37	1	47534324	47534324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:47534324C>T	ENST00000334194.3	+	2	211	c.208C>T	c.(208-210)Cat>Tat	p.H70Y		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	70						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TGAGGTGTATCATAAGCTGAT	0.463000													23	99					0	0	0.00278032	0	0
SEZ6L	23544	broad.mit.edu	37	22	26693009	26693009	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:26693009G>A	ENST00000529632.2	+	4	1321	c.1125G>A	c.(1123-1125)caG>caA	p.Q375Q	SEZ6L_ENST00000403121.1_Silent_p.Q148Q|SEZ6L_ENST00000248933.6_Silent_p.Q375Q|SEZ6L_ENST00000404234.3_Silent_p.Q375Q|SEZ6L_ENST00000343706.4_Silent_p.Q375Q|SEZ6L_ENST00000360929.3_Silent_p.Q375Q|SEZ6L_ENST00000402979.1_Silent_p.Q148Q	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	375	CUB 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGACCTTCCAGGACGACGGCC	0.592000													9	51					0	0	0.000673444	0	0
OR4X2	119764	broad.mit.edu	37	11	48267404	48267404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:48267404C>T	ENST00000302329.3	+	1	797	c.749C>T	c.(748-750)tCt>tTt	p.S250F		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GTCTTCAACTCTCTGAGGCCT	0.522000													5	13					0	0	0.00116845	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42851186	42851186	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:42851186C>T	ENST00000398585.3	-	7	767	c.707G>A	c.(706-708)gGa>gAa	p.G236E	TMPRSS2_ENST00000458356.1_Missense_Mutation_p.G199E|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.G199E	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	199	SRCR.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				ATCCACTATTCCTTGGCTAGA	0.368000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								35	86					0	0	0.00111076	0	0
KIF27	55582	broad.mit.edu	37	9	86504117	86504117	+	Nonsense_Mutation	SNP	G	G	A	rs148451065		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:86504117G>A	ENST00000297814.2	-	7	2004	c.1861C>T	c.(1861-1863)Cga>Tga	p.R621*	KIF27_ENST00000334204.2_Nonsense_Mutation_p.R621*|KIF27_ENST00000413982.1_Nonsense_Mutation_p.R621*|KIF27_ENST00000376347.1_Nonsense_Mutation_p.R12*	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	621					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTTCGTGTTCGAAATCCAGCA	0.418000													115	107					0	0	0.000781405	0	0
GPR171	29909	broad.mit.edu	37	3	150916724	150916724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:150916724C>T	ENST00000309180.5	-	3	680	c.450G>A	c.(448-450)atG>atA	p.M150I	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	150						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGGAATCATCATATTTGGCA	0.378000													24	60					0	0	0.00278032	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270521	1270521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:1270521C>T	ENST00000348261.5	+	35	6837	c.6589C>T	c.(6589-6591)Cct>Tct	p.P2197S	CACNA1H_ENST00000358590.4_Missense_Mutation_p.P2191S|CACNA1H_ENST00000565831.1_Missense_Mutation_p.P2191S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2197					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GGTGGAACCCCCTGCGGAGGA	0.721000													13	37					0	0	0.000566183	0	0
VPS33A	65082	broad.mit.edu	37	12	122748207	122748207	+	Missense_Mutation	SNP	G	G	A	rs150472752		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:122748207G>A	ENST00000267199.4	-	3	320	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	VPS33A_ENST00000451053.2_Missense_Mutation_p.R70C|VPS33A_ENST00000542310.1_5'UTR|RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.R70C	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	70					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	p.R70C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GCCGGCAAACGATTTCCTTTA	0.373000													18	39					0	0	0.000566183	0	0
SLC41A2	84102	broad.mit.edu	37	12	105322023	105322023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:105322023G>A	ENST00000258538.3	-	1	410	c.283C>T	c.(283-285)Cat>Tat	p.H95Y		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	95						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TTATTGGCATGAAAAGACTGC	0.413000													17	36					0	0	0.000958276	0	0
MFNG	4242	broad.mit.edu	37	22	37881962	37881962	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:37881962T>G	ENST00000416983.3	-	1	463	c.254A>C	c.(253-255)cAg>cCg	p.Q85P	MFNG_ENST00000356998.3_Splice_Site_p.Q85_splice	NM_001166343.1	NP_001159815.1	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	85				Q -> L (in Ref. 1; AAC51358).	pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					ACTTGTCACCTGTTCCCTGGT	0.612000													9	65					0	0	0.00136819	0	0
ACAN	176	broad.mit.edu	37	15	89400846	89400846	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:89400846A>G	ENST00000439576.2	+	12	5404	c.5030A>G	c.(5029-5031)gAa>gGa	p.E1677G	ACAN_ENST00000561243.1_Missense_Mutation_p.E1677G|ACAN_ENST00000559004.1_Missense_Mutation_p.E1677G|ACAN_ENST00000352105.7_Missense_Mutation_p.E1677G	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1677					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ACTGCAAGTGAACTGGAAGGG	0.527000													33	74					0	0	0.00283554	0	0
FANCB	2187	broad.mit.edu	37	X	14868780	14868780	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:14868780G>A	ENST00000398334.1	-	7	1610	c.1343C>T	c.(1342-1344)cCt>cTt	p.P448L	FANCB_ENST00000324138.3_Missense_Mutation_p.P448L	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	448					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					ACCACAAAGAGGAACAAGACA	0.294000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				15	17					0	0	0.000308642	0	0
FDXR	2232	broad.mit.edu	37	17	72860060	72860060	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:72860060C>A	ENST00000455107.2	-	10	1496	c.1080G>T	c.(1078-1080)ttG>ttT	p.L360F	FDXR_ENST00000442102.2_Missense_Mutation_p.G421W|FDXR_ENST00000583917.1_Missense_Mutation_p.G350W|FDXR_ENST00000582944.1_Missense_Mutation_p.G370W|FDXR_ENST00000293195.5_Missense_Mutation_p.G378W|FDXR_ENST00000544854.1_Missense_Mutation_p.G326W|FDXR_ENST00000420580.2_Missense_Mutation_p.G338W|FDXR_ENST00000413947.2_Missense_Mutation_p.G409W|FDXR_ENST00000581530.1_Missense_Mutation_p.G384W			P22570	ADRO_HUMAN	ferredoxin reductase	0					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					GGGATGACCCCAAGCTTGGAG	0.592000													9	228					0.000978159	0.00357807	0.000978159	1	0
PI4KAP1	728233	broad.mit.edu	37	22	20386754	20386754	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:20386754G>A	ENST00000430523.3	-	0	1758					NR_003563.1																						TTGAGGAGTGGAAAAGGACTC	0.562000													8	34					0	0	0.000274275	0	0
PZP	5858	broad.mit.edu	37	12	9333697	9333697	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:9333697G>A	ENST00000261336.2	-	15	1749	c.1721C>T	c.(1720-1722)cCc>cTc	p.P574L	PZP_ENST00000381997.2_Missense_Mutation_p.P443L	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGAGGCTGGGGGACTTTGTGC	0.542000													31	27					0	0	0.000814825	0	0
ABCA8	10351	broad.mit.edu	37	17	66937028	66937028	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:66937028A>G	ENST00000269080.2	-	3	309	c.172T>C	c.(172-174)Tca>Cca	p.S58P	ABCA8_ENST00000586539.1_Missense_Mutation_p.S58P|ABCA8_ENST00000430352.2_Missense_Mutation_p.S58P	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	58						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GTAAGCAGTGAAGAAAAATCA	0.353000													5	40					0	0	0.000602214	0	0
COBL	23242	broad.mit.edu	37	7	51096981	51096981	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:51096981G>A	ENST00000395542.2	-	12	2242	c.2058C>T	c.(2056-2058)tcC>tcT	p.S686S	COBL_ENST00000265136.7_Silent_p.S604S			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	604										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CGACGTCATGGGAAGCGGGGT	0.547000													18	83					0	0	0.00121646	0	0
ALMS1P	200420	broad.mit.edu	37	2	73899570	73899570	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:73899570C>T	ENST00000450720.1	+	0	442					NR_003683.2																						TGCTCTTTACCAGTTATCCTG	0.398000													12	6					0	0	0.00244969	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501824	140501824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140501824G>A	ENST00000194152.1	+	1	244	c.244G>A	c.(244-246)Gat>Aat	p.D82N		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		82	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGACTGGAGATTTGCTTCT	0.547000													18	39					0	0	0.000958276	0	0
OR5R1	219479	broad.mit.edu	37	11	56185304	56185304	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:56185304C>T	ENST00000312253.1	-	1	404	c.405G>A	c.(403-405)ctG>ctA	p.L135L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TTCTTGACATCAGTGTTGAAT	0.458000													17	24					0	0	0.00074312	0	0
PPFIA4	8497	broad.mit.edu	37	1	203024737	203024737	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:203024737C>T	ENST00000367240.2	+	15	2471	c.1944C>T	c.(1942-1944)tcC>tcT	p.S648S	PPFIA4_ENST00000599966.1_Silent_p.S163S|PPFIA4_ENST00000295706.4_Silent_p.S163S|PPFIA4_ENST00000272198.6_Silent_p.S163S|PPFIA4_ENST00000414050.2_Silent_p.S376S|PPFIA4_ENST00000447715.2_Silent_p.S647S			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	163					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GCGGCCGCTCCACACCTAAGC	0.657000													16	55					0	0	0.00074312	0	0
ZBBX	79740	broad.mit.edu	37	3	167031864	167031864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:167031864C>T	ENST00000392766.2	-	16	1655	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	ZBBX_ENST00000455345.2_Missense_Mutation_p.E439K|ZBBX_ENST00000307529.5_Missense_Mutation_p.E439K|ZBBX_ENST00000392767.2_Missense_Mutation_p.E439K|ZBBX_ENST00000392764.1_Missense_Mutation_p.E410K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	439						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATGCCATTTTCATATGGAAAG	0.289000													29	47					0	0	0.00106085	0	0
MEIS3	56917	broad.mit.edu	37	19	47920552	47920552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:47920552C>T	ENST00000331559.5	-	2	509	c.68G>A	c.(67-69)aGc>aAc	p.S23N	MEIS3_ENST00000561096.1_Missense_Mutation_p.S111N|MEIS3_ENST00000559524.1_Missense_Mutation_p.S23N|MEIS3_ENST00000558555.1_Missense_Mutation_p.S23N|MEIS3_ENST00000441740.2_Missense_Mutation_p.S23N|MEIS3_ENST00000561293.1_Missense_Mutation_p.S23N	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	23						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CTCTGGGAAGCTAGCCAGGGC	0.687000													15	75					0	0	0.000566183	0	0
ITGAD	3681	broad.mit.edu	37	16	31426181	31426181	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:31426181G>A	ENST00000389202.2	+	18	2201	c.2151_splice	c.e18-1	p.D718_splice		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	718					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCTCTCTCAGGATTGTGTGGA	0.587000													80	51					0	0	0.000781405	0	0
HOXD13	3239	broad.mit.edu	37	2	176958087	176958087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:176958087G>A	ENST00000392539.3	+	1	469	c.469G>A	c.(469-471)Gcc>Acc	p.A157T		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	157					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		ATCGCCGCACGCCTCGCTGGG	0.642000			T	NUP98	AML*								9	41					0	0	0.000442599	0	0
IGF2R	3482	broad.mit.edu	37	6	160471585	160471585	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:160471585C>T	ENST00000356956.1	+	19	2743	c.2595C>T	c.(2593-2595)ctC>ctT	p.L865L		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	865					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GCGGCAGCCTCCTTCTGGAAT	0.572000													23	22					0	0	0.000720815	0	0
SPRED1	161742	broad.mit.edu	37	15	38643461	38643461	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:38643461T>A	ENST00000299084.4	+	7	1791	c.931T>A	c.(931-933)Ttt>Att	p.F311I		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	311					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CTCTGTGGTATTTAAGACGCA	0.388000									Legius syndrome				21	7					0	0	0.00121646	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881442	108881442	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:108881442C>T	ENST00000329106.2	+	6	783	c.783C>T	c.(781-783)atC>atT	p.I261I		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	261						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						ACCACTCCATCTCCCCTTTTA	0.403000													13	51					0	0	0.000308642	0	0
SF3B4	10262	broad.mit.edu	37	1	149895580	149895580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:149895580G>A	ENST00000271628.8	-	6	1713	c.1129C>T	c.(1129-1131)Cct>Tct	p.P377S		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	377						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ATCAGTGGAGGAGGTCCACGC	0.617000													17	64					0	0	0.00121646	0	0
ZNF106	64397	broad.mit.edu	37	15	42743985	42743985	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:42743985A>C	ENST00000263805.4	-	2	742	c.416T>G	c.(415-417)tTt>tGt	p.F139C	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		AGTATTATTAAAGCCATCTTT	0.493000													24	37					0	0	0.00229938	0	0
SPN	6693	broad.mit.edu	37	16	29675288	29675288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:29675288C>T	ENST00000360121.3	+	2	331	c.239C>T	c.(238-240)tCc>tTc	p.S80F	SPN_ENST00000395389.2_Missense_Mutation_p.S80F|AC009133.19_ENST00000449759.1_Intron	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	80					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CTTTGGACTTCCATTGGTGCC	0.532000													61	53					0	0	0.000781405	0	0
HLA-DQB1	3119	broad.mit.edu	37	6	32629941	32629941	+	Missense_Mutation	SNP	T	T	G	rs9274001		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:32629941T>G	ENST00000399084.1	-	4	642	c.464A>C	c.(463-465)tAt>tCt	p.Y155S	HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.Y155S|HLA-DQB1_ENST00000399082.3_Missense_Mutation_p.Y65S|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.Y155S|HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.Y155S			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	155	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGGCCTGGATAGAAATCTGT	0.562000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				19	26					0	0	0.000958276	0	0
IGHV1-8	28472	broad.mit.edu	37	14	106539144	106539144	+	RNA	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:106539144T>C	ENST00000390599.2	-	0	347																											TAGGCTGTGCTTATGGAGGTG	0.527000													140	50					0	0	0.000781405	0	0
ZNF385D	79750	broad.mit.edu	37	3	21466984	21466984	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:21466984C>T	ENST00000281523.2	-	6	1370	c.852_splice	c.e6+1	p.Q284_splice		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	284						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TGCTGTTTACCTGTTTAAGTT	0.408000													14	56					0	0	0.00244969	0	0
OR6C76	390326	broad.mit.edu	37	12	55820117	55820117	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:55820117C>T	ENST00000328314.3	+	1	80	c.80C>T	c.(79-81)tCg>tTg	p.S27L		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTGATTTTCTCGTTCCTATTT	0.418000													10	29					0	0	0.000442599	0	0
DSC3	1825	broad.mit.edu	37	18	28588235	28588235	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:28588235C>T	ENST00000434452.1	-	10	1674	c.1520_splice	c.e10+1	p.R507_splice	DSC3_ENST00000360428.4_Splice_Site_p.R507_splice	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	507	Cadherin 4.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTATTTTTACCTTAAACCATT	0.318000													14	32					0	0	0.000422831	0	0
NDST4	64579	broad.mit.edu	37	4	115858526	115858526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:115858526G>A	ENST00000264363.2	-	5	2033	c.1355C>T	c.(1354-1356)cCa>cTa	p.P452L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	452	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTTCAGATGTGGATATTCTTC	0.468000													46	26					0	0	0.000781405	0	0
TMEM252	169693	broad.mit.edu	37	9	71152294	71152294	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:71152294C>T	ENST00000377311.3	-	2	446	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K		NM_153237.1	NP_694969.1			transmembrane protein 252																		TCCTGGAATTCCAGGCCCGTC	0.552000													18	32					0	0	0.000958276	0	0
POLR2B	5431	broad.mit.edu	37	4	57896476	57896476	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:57896476G>A	ENST00000381227.1	+	25	3759	c.3346G>A	c.(3346-3348)Gtt>Att	p.V1116I	POLR2B_ENST00000314595.5_Missense_Mutation_p.V1116I|POLR2B_ENST00000431623.2_Missense_Mutation_p.V1041I|POLR2B_ENST00000441246.2_Missense_Mutation_p.V1109I			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1116					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.V1116F(2)|p.V1116I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TCCATATCAGGTTCATGTTTG	0.458000													33	26					0	0	0.00283554	0	0
SCN10A	6336	broad.mit.edu	37	3	38768117	38768117	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:38768117C>T	ENST00000449082.2	-	16	3066	c.3067G>A	c.(3067-3069)Gaa>Aaa	p.E1023K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1023					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGGATCACTTCCTGCTGGAAG	0.532000													23	59					0	0	0.000586117	0	0
USP21	27005	broad.mit.edu	37	1	161130441	161130441	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:161130441C>T	ENST00000368002.3	+	3	388	c.11C>T	c.(10-12)gCc>gTc	p.A4V	USP21_ENST00000289865.8_Missense_Mutation_p.A4V|USP21_ENST00000368001.1_Missense_Mutation_p.A4V	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	4					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATGCCCCAGGCCTCTGAGCAC	0.602000													20	76					0	0	0.00188189	0	0
SEC14L5	9717	broad.mit.edu	37	16	5057370	5057370	+	Silent	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:5057370A>C	ENST00000251170.7	+	13	1635	c.1455A>C	c.(1453-1455)ggA>ggC	p.G485G		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	485						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TCCCCGAAGGAGGGCTGGTCC	0.602000													7	27					0	0	0.000442599	0	0
LAMA5	3911	broad.mit.edu	37	20	60892525	60892525	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:60892525C>T	ENST00000252999.3	-	55	7453	c.7387G>A	c.(7387-7389)Ggg>Agg	p.G2463R		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2463	Domain II and I.				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)	GTCCGAGCCCCATCCAGGCTG	0.677000													6	31					0	0	0.000157383	0	0
ADAM2	2515	broad.mit.edu	37	8	39626980	39626980	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:39626980G>A	ENST00000265708.4	-	12	1246	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	ADAM2_ENST00000379853.2_Silent_p.F255F|ADAM2_ENST00000347580.4_Silent_p.F362F|ADAM2_ENST00000521880.1_Silent_p.F381F	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	381					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTTGCTGTTTGAAAAAAGGAT	0.443000													15	15					0	0	0.000566183	0	0
CBLB	868	broad.mit.edu	37	3	105470439	105470439	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:105470439A>T	ENST00000264122.4	-	5	911	c.590T>A	c.(589-591)tTc>tAc	p.F197Y	CBLB_ENST00000394027.3_Missense_Mutation_p.F219Y|CBLB_ENST00000405772.1_Missense_Mutation_p.F197Y|CBLB_ENST00000545639.1_Missense_Mutation_p.F170Y|CBLB_ENST00000403724.1_Missense_Mutation_p.F197Y	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	197	Cbl-PTB.|EF-hand-like.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GCACTGTCTGAATACTTTCCA	0.373000			Mis S		AML								13	21					0	0	0.000566183	0	0
PLB1	151056	broad.mit.edu	37	2	28800975	28800975	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:28800975G>A	ENST00000422425.2	+	22	1512	c.1466_splice	c.e22-1	p.D490_splice	PLB1_ENST00000329020.6_Splice_Site_p.D167_splice|PLB1_ENST00000327757.5_Splice_Site_p.D479_splice	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	479	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TTTCCACAGGGATCTACCTGT	0.557000													28	36					0	0	0.00058488	0	0
DMRTC2	63946	broad.mit.edu	37	19	42353036	42353036	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:42353036C>T	ENST00000269945.3	+	5	672	c.621C>T	c.(619-621)ccC>ccT	p.P207P	DMRTC2_ENST00000596827.1_Silent_p.P207P	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	207	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CTCTGCCTCCCTTCCCTGGTA	0.527000													51	64					0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13845071	13845071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:13845071G>A	ENST00000265104.4	-	32	5250	c.5146C>T	c.(5146-5148)Cgg>Tgg	p.R1716W		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1716	Stem (By similarity).		R -> L (in CILD3).		microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGAAAAACCGAGGAAAGCAC	0.443000									Kartagener syndrome				17	25					0	0	0.000566183	0	0
CD72	971	broad.mit.edu	37	9	35612968	35612968	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:35612968C>T	ENST00000396757.1	-	7	875	c.711G>A	c.(709-711)tgG>tgA	p.W237*	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Nonsense_Mutation_p.W237*			P21854	CD72_HUMAN	CD72 molecule	237	C-type lectin.				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GATGCATTATCCATCCCGACG	0.413000													47	23					0	0	0.000781405	0	0
C3orf30	152405	broad.mit.edu	37	3	118866239	118866239	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:118866239C>T	ENST00000295622.1	+	1	1243	c.1203C>T	c.(1201-1203)gaC>gaT	p.D401D	RP11-484M3.5_ENST00000490594.1_Silent_p.D6D	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	401										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GCCAAGTAGACCTCAATTCCA	0.448000													12	24					0	0	0.000978159	0	0
CUX2	23316	broad.mit.edu	37	12	111748223	111748223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:111748223C>T	ENST00000261726.6	+	15	1791	c.1637C>T	c.(1636-1638)cCc>cTc	p.P546L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	546						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCGGCGGGGCCCGGGGCAGAG	0.711000													6	15					0	0	0.000157383	0	0
RORB	6096	broad.mit.edu	37	9	77275628	77275628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:77275628G>A	ENST00000376896.2	+	5	1345	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	RORB_ENST00000396204.2_Missense_Mutation_p.E256K	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	256	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CCACACCTATGAAGAAATTAA	0.448000													36	48					0	0	0.00058488	0	0
ABRA	137735	broad.mit.edu	37	8	107781815	107781815	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:107781815C>T	ENST00000311955.3	-	1	658	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	202					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TCGGGCCTCTCCTCAGCCTCT	0.592000													156	54					0	0	0.000781405	0	0
PPP6C	5537	broad.mit.edu	37	9	127920583	127920583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:127920583G>A	ENST00000451402.1	-	5	647	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C	PPP6C_ENST00000415905.1_Missense_Mutation_p.R84C|PPP6C_ENST00000373547.4_Missense_Mutation_p.R106C|PPP6C_ENST00000373546.3_Intron	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	106					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						AGTGTAATACGATCAGGCCAT	0.353000													114	115					0	0	0.000781405	0	0
CEP112	201134	broad.mit.edu	37	17	64171218	64171218	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:64171218C>T	ENST00000392769.2	-	4	632	c.414G>A	c.(412-414)tgG>tgA	p.W138*	CEP112_ENST00000535342.2_Nonsense_Mutation_p.W138*|CEP112_ENST00000537949.1_Nonsense_Mutation_p.W138*	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	138						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						AAGAGAGTTTCCATGATTCAT	0.418000													22	102					0	0	0.000586117	0	0
PTPRH	5794	broad.mit.edu	37	19	55698954	55698954	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:55698954G>A	ENST00000376350.3	-	14	2515	c.2493C>T	c.(2491-2493)ggC>ggT	p.G831G	PTPRH_ENST00000263434.5_Silent_p.G653G	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	831	Tyrosine-protein phosphatase.		G -> D (in dbSNP:rs36092369).		apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ACTGGCTGTGGCCCACCAGGG	0.587000													18	57					0	0	0.00152264	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551667	1551667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:1551667C>T	ENST00000381605.4	-	4	932	c.868G>A	c.(868-870)Gga>Aga	p.G290R	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	290	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GACACATTTCCATTCTCCAAC	0.552000													15	53					0	0	0.00074312	0	0
C1orf173	127254	broad.mit.edu	37	1	75036972	75036972	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:75036972G>A	ENST00000326665.5	-	14	4640	c.4422C>T	c.(4420-4422)ttC>ttT	p.F1474F	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1474	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATCCTAATCGGAATTTTTCAG	0.567000													66	80					0	0	0.000781405	0	0
IRF2	3660	broad.mit.edu	37	4	185311898	185311898	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:185311898C>T	ENST00000393593.3	-	8	907	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	234					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TCAGTCGTTTCGCTTTCTGTT	0.537000													14	45					0	0	0.00244969	0	0
DFNB59	494513	broad.mit.edu	37	2	179325105	179325105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179325105G>A	ENST00000409117.3	+	6	1054	c.698G>A	c.(697-699)gGa>gAa	p.G233E	DFNB59_ENST00000375129.4_Missense_Mutation_p.G233E	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	233					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TCAAAAGGAGGATTTGAAAGG	0.328000													35	31					0	0	0.00148497	0	0
C10orf12	26148	broad.mit.edu	37	10	98741766	98741766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:98741766C>T	ENST00000286067.2	+	1	726	c.619C>T	c.(619-621)Cgt>Tgt	p.R207C		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	207										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GCCAACTGTTCGTACACTGGC	0.433000													35	36					0	0	0.00111076	0	0
ECEL1	9427	broad.mit.edu	37	2	233348802	233348802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:233348802C>T	ENST00000304546.1	-	7	1526	c.1316G>A	c.(1315-1317)cGg>cAg	p.R439Q	ECEL1_ENST00000409941.1_Missense_Mutation_p.R439Q	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	439					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CAAGCAGACCCGGGCCAGCTC	0.627000													31	59					0	0	0.00058488	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419725	105419725	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:105419725G>A	ENST00000333244.5	-	7	2182	c.2063C>T	c.(2062-2064)tCa>tTa	p.S688L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	688						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCTGGGGCTGACGCCCCGAA	0.542000													192	70					0	0	0.000781405	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119938786	119938786	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:119938786T>G	ENST00000297350.4	-	4	1142	c.764A>C	c.(763-765)aAg>aCg	p.K255T		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	255	Death 1.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TTTCCATAACTTCAGCAGCTG	0.383000													29	126					0	0	0.00058488	0	0
C1orf173	127254	broad.mit.edu	37	1	75065431	75065431	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:75065431C>T	ENST00000326665.5	-	11	1892	c.1674G>A	c.(1672-1674)gtG>gtA	p.V558V	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.V361V	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	558	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTCATCTTTCACATTGTCAC	0.418000													29	20					0	0	0.00127121	0	0
GABRG1	2565	broad.mit.edu	37	4	46043158	46043158	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:46043158G>A	ENST00000295452.4	-	9	1412	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	415					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AGCAACAGAAGAAGCTGGCAC	0.413000													6	29					0	0	0.000157383	0	0
OTP	23440	broad.mit.edu	37	5	76932724	76932724	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:76932724G>A	ENST00000306422.3	-	2	1507	c.369C>T	c.(367-369)ttC>ttT	p.F123F	OTP_ENST00000515716.1_5'UTR	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	123						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GAGTCTTGGCGAAGCTCCTCT	0.637000													39	90					0	0	0.00195071	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841430	8841430	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:8841430C>T	ENST00000324060.2	+	1	115	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGACTTCATTCTGGTGGGCCT	0.512000													6	39					0	0	0.00116845	0	0
SGSM1	129049	broad.mit.edu	37	22	25270412	25270412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:25270412C>T	ENST00000400359.4	+	13	1329	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	SGSM1_ENST00000400358.4_Intron	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	441						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AGCACTTCCTCCGTCTCTGTG	0.607000													6	47					0	0	0.00198382	0	0
IGHV6-1	28385	broad.mit.edu	37	14	106405795	106405795	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:106405795C>T	ENST00000390593.2	-	0	230																											TGGGGACTGCCTGATCCAGTT	0.527000													25	95					0	0	0.000878237	0	0
TIGD4	201798	broad.mit.edu	37	4	153690662	153690662	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:153690662A>T	ENST00000304337.2	-	2	2315	c.1495T>A	c.(1495-1497)Tta>Ata	p.L499I		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	499					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					AGGTCTGCTAAAGAATTTTGA	0.294000													14	35					0	0	0.00244969	0	0
BAIAP2L2	80115	broad.mit.edu	37	22	38483273	38483273	+	Splice_Site	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:38483273T>A	ENST00000381669.3	-	11	1263		c.e11-2			NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2						filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CAACCGCTCCTGTGGGGTAGA	0.592000													39	69					0	0	0.00222228	0	0
FBN3	84467	broad.mit.edu	37	19	8176551	8176551	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:8176551C>T	ENST00000600128.1	-	32	4479	c.4065G>A	c.(4063-4065)ggG>ggA	p.G1355G	FBN3_ENST00000601739.1_Silent_p.G1355G|FBN3_ENST00000270509.2_Silent_p.G1355G			Q75N90	FBN3_HUMAN	fibrillin 3	1355	EGF-like 20; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGAAGCCATCCCCGGCAAAGC	0.632000													15	11					0	0	0.000422831	0	0
OR1J1	347168	broad.mit.edu	37	9	125239944	125239944	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:125239944G>A	ENST00000259357.2	-	1	291	c.262C>T	c.(262-264)Cag>Tag	p.Q88*		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GCTAGGTGCTGAGTCTGCATG	0.428000													51	58					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179477638	179477638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179477638C>T	ENST00000589042.1	-	265	50034	c.49810G>A	c.(49810-49812)Ggg>Agg	p.G16604R	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G14963R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G7664R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G7731R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G14036R|TTN_ENST00000460472.2_Missense_Mutation_p.G7539R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14963	Fibronectin type-III 20.						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)			GTGGGAACCCCTTCCGCCACT	0.493000													8	17					0	0	0.000442599	0	0
RPN2	6185	broad.mit.edu	37	20	35827600	35827600	+	Missense_Mutation	SNP	C	C	T	rs147803642		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:35827600C>T	ENST00000237530.6	+	4	762	c.451C>T	c.(451-453)Cgt>Tgt	p.R151C	RPN2_ENST00000373622.5_Missense_Mutation_p.R119C	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	151					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CCTTACTGCTCGTCTCAGCAA	0.522000													12	40					0	0	0.00185496	0	0
PLSCR2	57047	broad.mit.edu	37	3	146177693	146177693	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:146177693C>T	ENST00000497985.1	-	4	657	c.218G>A	c.(217-219)tGg>tAg	p.W73*	PLSCR2_ENST00000336685.2_5'UTR	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	0					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TGCTGGCATCCATGGTACCCC	0.463000													33	25					0	0	0.00058488	0	0
SALL1	6299	broad.mit.edu	37	16	51171359	51171359	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:51171359G>A	ENST00000440970.1	-	3	3779	c.3348C>T	c.(3346-3348)ttC>ttT	p.F1116F	SALL1_ENST00000251020.4_Silent_p.F1213F|SALL1_ENST00000541611.1_Silent_p.F36F|SALL1_ENST00000566102.1_3'UTR	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1213					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACATTTCTGGGAACTTGACGG	0.567000													11	34					0	0	0.000673444	0	0
NEBL	10529	broad.mit.edu	37	10	21115453	21115453	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:21115453C>T	ENST00000377122.4	-	18	2188	c.1792G>A	c.(1792-1794)Gaa>Aaa	p.E598K	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	598					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCTCCCACTTCTTTCTTATAA	0.358000													9	20					0	0	0.000442599	0	0
CRB2	286204	broad.mit.edu	37	9	126133697	126133697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:126133697G>A	ENST00000373631.3	+	8	2277	c.2276G>A	c.(2275-2277)tGg>tAg	p.W759*	CRB2_ENST00000359999.3_Nonsense_Mutation_p.W759*|CRB2_ENST00000373629.2_Nonsense_Mutation_p.W427*	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	759	Laminin G-like 2.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						AGCCAGCCCTGGGGTGGGCCC	0.667000													25	97					0	0	0.000720815	0	0
DCHS1	8642	broad.mit.edu	37	11	6650991	6650991	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:6650991G>A	ENST00000299441.3	-	11	5358	c.4947C>T	c.(4945-4947)ttC>ttT	p.F1649F		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1649	Cadherin 15.				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)		CCTGCTGCTGGAAAGTAGGCG	0.642000													14	16					0	0	0.000308642	0	0
SLC2A14	144195	broad.mit.edu	37	12	7980222	7980222	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:7980222C>T	ENST00000543909.1	-	12	1561	c.802G>A	c.(802-804)Gat>Aat	p.D268N	SLC2A14_ENST00000340749.5_Missense_Mutation_p.D245N|SLC2A14_ENST00000542546.1_Missense_Mutation_p.D159N|SLC2A14_ENST00000535295.1_Missense_Mutation_p.D159N|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.D245N|SLC2A14_ENST00000539924.1_Missense_Mutation_p.D283N|SLC2A14_ENST00000396589.2_Missense_Mutation_p.D268N			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	268					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GCACTCTCATCTTTCATCTCC	0.493000													14	41					0	0	0.00229938	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41742086	41742086	+	Silent	SNP	C	C	T	rs149401669		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:41742086C>T	ENST00000352645.4	+	14	1796	c.1539C>T	c.(1537-1539)acC>acT	p.T513T	ZC3H7B_ENST00000351589.4_Silent_p.T513T	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	529					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACGTGTGGACCGAGGAGCGGA	0.592000													181	124					0	0	0.000781405	0	0
RNASE9	390443	broad.mit.edu	37	14	21025085	21025085	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:21025085C>T	ENST00000557068.1	-	4	1869	c.144G>A	c.(142-144)ttG>ttA	p.L48L	RNASE9_ENST00000553706.1_Silent_p.L53L|RNASE9_ENST00000557209.1_Silent_p.L53L|RNASE9_ENST00000553541.1_Silent_p.L48L|RNASE9_ENST00000554964.1_Silent_p.L48L|RNASE9_ENST00000404716.3_Silent_p.L53L|RNASE9_ENST00000338904.3_Silent_p.L48L|RNASE9_ENST00000555230.1_Silent_p.L48L|RNASE9_ENST00000556208.1_Silent_p.L53L|RNASE9_ENST00000429244.2_Silent_p.L48L			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	48						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		AAAATTTTTCCAAACACTCTT	0.408000													32	20					0	0	0.00178596	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325271	150325271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:150325271C>T	ENST00000328902.5	-	3	631	c.415G>A	c.(415-417)Gat>Aat	p.D139N	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	139							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCTGCTGATCCTCATCCGTG	0.642000													48	67					0	0	0.000781405	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7672110	7672110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:7672110C>T	ENST00000299492.4	+	22	2549	c.2161C>T	c.(2161-2163)Cac>Tac	p.H721Y	PPFIBP2_ENST00000528883.1_Missense_Mutation_p.H609Y|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.H563Y|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.H578Y	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	721	SAM 3.				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GTGGTCCAACCACAGGGTGAT	0.522000													32	33					0	0	0.00283554	0	0
OR2L13	284521	broad.mit.edu	37	1	248263173	248263173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:248263173C>T	ENST00000366478.2	+	3	833	c.496C>T	c.(496-498)Ccc>Tcc	p.P166S	OR2L13_ENST00000358120.2_Missense_Mutation_p.P166S	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCTTCATATTCCCTACTGCAG	0.458000													37	136					0	0	0.00148497	0	0
EOMES	8320	broad.mit.edu	37	3	27761771	27761771	+	Silent	SNP	G	G	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:27761771G>T	ENST00000295743.4	-	2	1130	c.927C>A	c.(925-927)ccC>ccA	p.P309P	EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000449599.1_Silent_p.P309P|EOMES_ENST00000537516.1_Silent_p.P14P			O95936	EOMES_HUMAN	eomesodermin	309					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AGTGGGCAGTGGGATTGAGTC	0.498000													7	145					0.000442599	0.00162127	0.000442599	1	0
TDRD6	221400	broad.mit.edu	37	6	46657589	46657589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:46657589C>T	ENST00000544460.1	+	1	1978	c.1724C>T	c.(1723-1725)tCg>tTg	p.S575L	TDRD6_ENST00000316081.6_Missense_Mutation_p.S575L	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	575	Tudor 3.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CGAGGCAATTCGGAAAATGTG	0.443000													29	59					0	0	0.001512	0	0
SLC4A4	8671	broad.mit.edu	37	4	72316957	72316957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:72316957C>T	ENST00000340595.3	+	8	1325	c.1129C>T	c.(1129-1131)Cat>Tat	p.H377Y	SLC4A4_ENST00000512686.1_Missense_Mutation_p.H377Y|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Missense_Mutation_p.H421Y|SLC4A4_ENST00000351898.6_Missense_Mutation_p.H421Y|SLC4A4_ENST00000425175.1_Missense_Mutation_p.H421Y	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	421						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GGATACGCCCCATGATGGAGG	0.438000													16	50					0	0	0.00074312	0	0
UGT2B7	7364	broad.mit.edu	37	4	69972913	69972913	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:69972913G>A	ENST00000305231.7	+	4	1069	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_Silent_p.G341G	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	341					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATTTGATGGGAATAAACCAG	0.353000													13	37					0	0	0.000308642	0	0
OR5L1	219437	broad.mit.edu	37	11	55579799	55579799	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:55579799A>G	ENST00000333973.2	+	1	946	c.857A>G	c.(856-858)aAc>aGc	p.N286S		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CCTATGCTGAACTCTGTGATC	0.438000													11	11					0	0	0.00136819	0	0
BCL9	607	broad.mit.edu	37	1	147096628	147096628	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:147096628C>T	ENST00000234739.3	+	10	4889	c.4149C>T	c.(4147-4149)tcC>tcT	p.S1383S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1383					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TGATGATGTCCATGCAGGGCA	0.627000			T	"""IGH@, IGL@"""	B-ALL								14	37					0	0	0.00244969	0	0
BTBD1	53339	broad.mit.edu	37	15	83718918	83718918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:83718918C>T	ENST00000261721.4	-	3	773	c.571G>A	c.(571-573)Gat>Aat	p.D191N	BTBD1_ENST00000379403.2_Missense_Mutation_p.D191N|RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.7_ENST00000570202.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	191						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		TGAGGTTCATCAAATAATCGA	0.303000													29	10					0	0	0.00178596	0	0
LTN1	26046	broad.mit.edu	37	21	30308901	30308901	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:30308901G>T	ENST00000361371.4	-	26	4751	c.4601C>A	c.(4600-4602)cCa>cAa	p.P1534Q	LTN1_ENST00000389194.2_Missense_Mutation_p.P1580Q	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1534							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GTCCTTATTTGGGACCTCAAC	0.393000													10	315					0.000673444	0.00246429	0.000673444	1	0
LAMC1	3915	broad.mit.edu	37	1	183093967	183093967	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:183093967T>G	ENST00000258341.4	+	14	2860	c.2603T>G	c.(2602-2604)tTt>tGt	p.F868C		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	868	Laminin EGF-like 8.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAAGACGGATTTTTTGGAAAT	0.453000													29	46					0	0	0.001512	0	0
MUC16	94025	broad.mit.edu	37	19	9071966	9071966	+	Silent	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9071966C>A	ENST00000397910.4	-	3	15683	c.15480G>T	c.(15478-15480)gtG>gtT	p.V5160V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5162	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGATCTCCCACAGTGGTGG	0.478000													9	268					3.86212e-05	0.000141867	0.000673444	1	0
SPTBN1	6711	broad.mit.edu	37	2	54845318	54845318	+	Silent	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:54845318T>C	ENST00000333896.5	+	6	1097	c.712T>C	c.(712-714)Ttg>Ctg	p.L238L	SPTBN1_ENST00000356805.4_Silent_p.L251L	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	251	Actin-binding.|CH 2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CACTAAACTGTTGGACCCCGA	0.428000													17	41					0	0	0.000958276	0	0
PCDHA7	56141	broad.mit.edu	37	5	140216247	140216247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140216247C>T	ENST00000525929.1	+	1	2279	c.2279C>T	c.(2278-2280)tCt>tTt	p.S760F	PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.S760F|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGTGTGCTCTGGGGAGGGC	0.572000													13	22					0	0	0.00136819	0	0
DLX4	1748	broad.mit.edu	37	17	48050392	48050392	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:48050392C>T	ENST00000411890.2	+	1	263	c.23C>T	c.(22-24)cCt>cTt	p.P8L	DLX4_ENST00000240306.3_Intron|DLX4_ENST00000503410.1_Intron	NM_001934.3	NP_001925.2	Q92988	DLX4_HUMAN	distal-less homeobox 4	75				MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9).	multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						GTCCTACCCCCTCGCTCCCTC	0.647000													13	26					0	0	0.00185496	0	0
GRIK1	2897	broad.mit.edu	37	21	30927556	30927556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:30927556C>T	ENST00000399914.1	-	15	2900	c.2379G>A	c.(2377-2379)atG>atA	p.M793I	GRIK1_ENST00000327783.4_Missense_Mutation_p.M808I|GRIK1_ENST00000399909.1_Missense_Mutation_p.M793I|GRIK1_ENST00000389125.3_Missense_Mutation_p.M793I|GRIK1_ENST00000399907.1_Missense_Mutation_p.M808I|GRIK1_ENST00000399913.1_Missense_Mutation_p.M808I|GRIK1_ENST00000389124.2_Missense_Mutation_p.M808I|GRIK1_ENST00000309434.7_Missense_Mutation_p.M810I|GRIK1_ENST00000535441.1_Missense_Mutation_p.M810I			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	808					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCTCTTTCATCATATGCAGCT	0.458000													37	87					0	0	0.00128727	0	0
DUSP10	11221	broad.mit.edu	37	1	221913007	221913007	+	Nonsense_Mutation	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:221913007A>C	ENST00000366899.3	-	2	318	c.80T>G	c.(79-81)tTa>tGa	p.L27*	DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	27					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		ACTAGAGTCTAAACAAAGGTT	0.542000													31	148					0	0	0.00058488	0	0
C17orf53	78995	broad.mit.edu	37	17	42226384	42226384	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:42226384C>T	ENST00000319977.4	+	3	1450	c.1213C>T	c.(1213-1215)Ctg>Ttg	p.L405L	C17orf53_ENST00000245382.6_Silent_p.L405L|C17orf53_ENST00000585683.1_Silent_p.L405L	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	405										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGCTGGGATCCTGCCTCACCA	0.617000													11	20					0	0	0.000978159	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27537542	27537542	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:27537542C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TTCCAAAGCTCAGTTCTGTGA	0.353000													40	42					0	0	0.0025221	0	0
IGSF9	57549	broad.mit.edu	37	1	159904552	159904552	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:159904552G>A	ENST00000368094.1	-	7	931	c.734C>T	c.(733-735)tCa>tTa	p.S245L	IGSF9_ENST00000361509.3_Missense_Mutation_p.S245L	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	245	Ig-like 3.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAGGCCAATGAAACATCCTG	0.567000													14	57					0	0	0.00185496	0	0
VWA5A	4013	broad.mit.edu	37	11	124012423	124012423	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:124012423A>G	ENST00000456829.2	+	16	2249	c.1998A>G	c.(1996-1998)atA>atG	p.I666M	VWA5A_ENST00000360334.4_3'UTR|VWA5A_ENST00000392748.1_Missense_Mutation_p.I666M	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	666										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GTGGGTTGATAAGTCACAAGG	0.448000													29	30					0	0	0.000692331	0	0
CERKL	375298	broad.mit.edu	37	2	182412558	182412558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:182412558G>A	ENST00000410087.3	-	9	1250	c.1150C>T	c.(1150-1152)Ccc>Tcc	p.P384S	CERKL_ENST00000409440.3_Missense_Mutation_p.P366S|CERKL_ENST00000374970.2_Missense_Mutation_p.P315S|CERKL_ENST00000339098.5_Missense_Mutation_p.P410S|CERKL_ENST00000374969.2_Missense_Mutation_p.P271S|CERKL_ENST00000479558.1_5'UTR	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	410					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CCAGATTTGGGAGATCCCTGT	0.398000													35	131					0	0	0.00128727	0	0
SLC47A1	55244	broad.mit.edu	37	17	19451411	19451411	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:19451411C>T	ENST00000270570.4	+	4	506	c.420C>T	c.(418-420)atC>atT	p.I140I	SLC47A1_ENST00000436810.2_Silent_p.I117I|SLC47A1_ENST00000395585.1_Silent_p.I140I|SLC47A1_ENST00000542886.1_Silent_p.I140I|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000575023.1_Silent_p.I140I|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000457293.1_Silent_p.I140I	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	140						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					CCCAGCACATCCTGCTGCTCT	0.597000													14	9					0	0	0.000308642	0	0
AARS2	57505	broad.mit.edu	37	6	44271982	44271982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:44271982G>A	ENST00000244571.4	-	14	1945	c.1943C>T	c.(1942-1944)cCt>cTt	p.P648L	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	648					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CTCTGTGCCAGGGCCCAGGGT	0.607000											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	17					0	0	0.00121646	0	0
CNTN3	5067	broad.mit.edu	37	3	74344349	74344349	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:74344349G>A	ENST00000263665.6	-	18	2467	c.2440C>T	c.(2440-2442)Cta>Tta	p.L814L		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	814	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GAGGAAGATAGGCTATTTGCA	0.378000													19	77					0	0	0.00188189	0	0
ADAM19	8728	broad.mit.edu	37	5	156929909	156929909	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:156929909G>A	ENST00000257527.4	-	12	1288	c.1210C>T	c.(1210-1212)Ctc>Ttc	p.L404F	ADAM19_ENST00000430702.2_Missense_Mutation_p.L137F|ADAM19_ENST00000517905.1_Missense_Mutation_p.L404F|ADAM19_ENST00000394020.1_Missense_Mutation_p.L406F	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	404	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGTTGGAGAGACACATTCCA	0.547000													26	55					0	0	0.000878237	0	0
CEACAM6	4680	broad.mit.edu	37	19	42259569	42259569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:42259569C>T	ENST00000199764.6	+	1	241	c.23C>T	c.(22-24)cCc>cTc	p.P8L	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	8					cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		TCAGCCCCTCCCTGCAGATTG	0.607000													22	61					0	0	0.00047179	0	0
TTN	7273	broad.mit.edu	37	2	179648473	179648473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179648473G>A	ENST00000589042.1	-	17	3039	c.2815C>T	c.(2815-2817)Cct>Tct	p.P939S	TTN_ENST00000360870.5_Missense_Mutation_p.P939S|TTN_ENST00000591111.1_Missense_Mutation_p.P939S|TTN_ENST00000359218.5_Missense_Mutation_p.P893S|TTN_ENST00000342175.6_Missense_Mutation_p.P893S|TTN_ENST00000342992.6_Missense_Mutation_p.P939S|TTN_ENST00000460472.2_Missense_Mutation_p.P893S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	939							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)			GGAGTAACAGGAATTTCAACA	0.348000													17	72					0	0	0.00121646	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23003225	23003225	+	Missense_Mutation	SNP	G	G	A	rs115978162	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:23003225G>A	ENST00000312584.3	-	5	786	c.692C>T	c.(691-693)tCa>tTa	p.S231L		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	231					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CTTCCGACATGAAAAGCCAAC	0.512000													15	20					0	0	0.000308642	0	0
ASTN1	460	broad.mit.edu	37	1	176903372	176903372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:176903372C>T	ENST00000367654.2	-	16	2624	c.2611G>A	c.(2611-2613)Ggc>Agc	p.G871S	ASTN1_ENST00000361833.2_Missense_Mutation_p.G863S|ASTN1_ENST00000424564.2_Missense_Mutation_p.G863S|ASTN1_ENST00000367657.3_Missense_Mutation_p.G863S			O14525	ASTN1_HUMAN	astrotactin 1	871					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						TCCTCAAAGCCGTAGATAGCT	0.527000													36	23					0	0	0.00058488	0	0
ROS1	6098	broad.mit.edu	37	6	117725504	117725504	+	Missense_Mutation	SNP	C	C	T	rs34245787		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:117725504C>T	ENST00000368508.3	-	5	575	c.377G>A	c.(376-378)gGa>gAa	p.G126E	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.G135E	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	126	Fibronectin type-III 1.		G -> V (in dbSNP:rs34245787).		transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTATTTTACTCCAGAGAAGTT	0.428000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								25	20					0	0	0.00278032	0	0
REPS2	9185	broad.mit.edu	37	X	17065603	17065603	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:17065603C>T	ENST00000357277.3	+	6	1076	c.905C>T	c.(904-906)tCa>tTa	p.S302L	REPS2_ENST00000380064.4_Missense_Mutation_p.S162L|REPS2_ENST00000303843.7_Missense_Mutation_p.S301L	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	302	EH 2.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					TCTTTCATTTCAGGTAAGAAT	0.483000													65	3					0	0	0.000781405	0	0
PASK	23178	broad.mit.edu	37	2	242080004	242080004	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:242080004G>A	ENST00000403638.3	-	3	452	c.361C>T	c.(361-363)Cct>Tct	p.P121S	PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000358649.4_Missense_Mutation_p.P121S|PASK_ENST00000234040.4_Missense_Mutation_p.P121S|PASK_ENST00000405260.1_Missense_Mutation_p.P121S	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	121	PAS 1.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GGAAGCAGAGGTGAGGACCAC	0.612000													11	42					0	0	0.00185496	0	0
KCNK10	54207	broad.mit.edu	37	14	88652317	88652317	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:88652317G>A	ENST00000340700.5	-	7	1630	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S	KCNK10_ENST00000319231.5_Silent_p.S398S|KCNK10_ENST00000312350.5_Silent_p.S398S	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	393					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GCTTCTCGGGGGACAGCATGT	0.662000													24	74					0	0	0.000720815	0	0
MYO5B	4645	broad.mit.edu	37	18	47431112	47431112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:47431112C>T	ENST00000285039.7	-	20	2800	c.2501G>A	c.(2500-2502)aGg>aAg	p.R834K		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	834	Arg-rich.|IQ 3.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCTGCGGACCCTCTGGTAGGC	0.637000													15	107					0	0	0.000566183	0	0
SYT8	90019	broad.mit.edu	37	11	1858068	1858068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:1858068G>A	ENST00000341958.3	+	6	1069	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	SYT8_ENST00000381968.3_Missense_Mutation_p.R270Q|SYT8_ENST00000535046.1_3'UTR			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	270	C2 2.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGGAGGCTCGAGGCCTGCGT	0.687000													11	9					0	0	0.000978159	0	0
C12orf52	84934	broad.mit.edu	37	12	113629232	113629232	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:113629232C>T	ENST00000548278.1	+	4	1112	c.420C>T	c.(418-420)ctC>ctT	p.L140L	C12orf52_ENST00000552495.1_Silent_p.L164L|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_Silent_p.L140L	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	140	Interaction with RBPJ/RBPSUH.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						TCCGTGCTCTCTTGTGGACGC	0.662000													5	12					0	0	0.000602214	0	0
IVL	3713	broad.mit.edu	37	1	152882751	152882751	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:152882751G>A	ENST00000368764.3	+	2	542	c.478G>A	c.(478-480)Gag>Aag	p.E160K	IVL_ENST00000392667.2_Missense_Mutation_p.E14K			P07476	INVO_HUMAN	involucrin	160	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGagcagcaggaggggcacct	0.582000													7	33					0	0	0.000157383	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274210	10274210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:10274210C>T	ENST00000396573.2	-	3	368	c.59G>A	c.(58-60)gGt>gAt	p.G20D	GRIN2A_ENST00000330684.3_Missense_Mutation_p.G20D|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G20D|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G20D|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G20D	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	20					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGGCGCCGGACCGCGCCAGAC	0.652000													7	31					0	0	0.00198382	0	0
SLC35F3	148641	broad.mit.edu	37	1	234445036	234445036	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:234445036C>T	ENST00000366618.3	+	4	943	c.798C>T	c.(796-798)atC>atT	p.I266I	SLC35F3_ENST00000366617.3_Silent_p.I197I	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	197					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TCTCATGGATCGTTCTCAGGG	0.443000													47	29					0	0	0.000781405	0	0
CACNA1E	777	broad.mit.edu	37	1	181702848	181702848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:181702848C>T	ENST00000526775.1	+	20	3332	c.3167C>T	c.(3166-3168)cCc>cTc	p.P1056L	CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1026L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1075L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1056L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1075L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P1007L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P682L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1075					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						GTCGCCATCCCCGACGTGGAC	0.652000													8	43					0	0	0.000274275	0	0
OR51V1	283111	broad.mit.edu	37	11	5221178	5221178	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:5221178G>A	ENST00000321255.1	-	1	752	c.753C>T	c.(751-753)atC>atT	p.I251I		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATGTGGGAGATGCAGGTCT	0.483000													14	18					0	0	0.00185496	0	0
CAPN13	92291	broad.mit.edu	37	2	30966359	30966359	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:30966359G>A	ENST00000295055.8	-	13	1511	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	CAPN13_ENST00000534090.2_Silent_p.F445F	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	445					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AAGTCATGGTGAAGTTGCGGC	0.468000													62	196					0	0	0.000781405	0	0
CDH11	1009	broad.mit.edu	37	16	64984894	64984894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:64984894C>T	ENST00000394156.3	-	12	2123	c.1670G>A	c.(1669-1671)cGt>cAt	p.R557H	CDH11_ENST00000268603.4_Missense_Mutation_p.R557H|CDH11_ENST00000566827.1_Missense_Mutation_p.R431H			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	557	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GAACCCTCCACGCCGGGCGTA	0.602000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			7	29					0	0	0.00198382	0	0
MYO5B	4645	broad.mit.edu	37	18	47455914	47455914	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:47455914C>T	ENST00000285039.7	-	17	2357	c.2058G>A	c.(2056-2058)acG>acA	p.T686T		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	686	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGATTCGAATCGTCTCCAACA	0.537000													9	39					0	0	0.00136819	0	0
CCDC129	223075	broad.mit.edu	37	7	31692375	31692375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:31692375G>A	ENST00000319386.3	+	14	3616	c.2623G>A	c.(2623-2625)Gca>Aca	p.A875T	CCDC129_ENST00000451887.2_Intron|CCDC129_ENST00000409210.1_Missense_Mutation_p.A931T|CCDC129_ENST00000407970.3_Missense_Mutation_p.A1023T			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	1023										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ATCAGCTTGGGCAAAGTTAGG	0.502000													48	23					0	0	0.000781405	0	0
NLRP11	204801	broad.mit.edu	37	19	56321216	56321216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:56321216G>A	ENST00000443188.1	-	5	1470	c.760C>T	c.(760-762)Ccc>Tcc	p.P254S	NLRP11_ENST00000360133.3_Missense_Mutation_p.P254S|NLRP11_ENST00000589093.1_Missense_Mutation_p.P254S|NLRP11_ENST00000592953.1_Missense_Mutation_p.P155S|NLRP11_ENST00000589824.2_Missense_Mutation_p.P254S	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	254	NACHT.						ATP binding	p.P254S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACTGGAATGGGAACTTTCTGG	0.448000													37	41					0	0	0.000953801	0	0
LAMC3	10319	broad.mit.edu	37	9	133962954	133962954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:133962954C>T	ENST00000361069.4	+	26	4455	c.4322C>T	c.(4321-4323)tCc>tTc	p.S1441F	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1441	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CAACAGGCGTCCCAGCAGGTG	0.657000													14	56					0	0	0.00244969	0	0
FBN2	2201	broad.mit.edu	37	5	127674668	127674668	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:127674668G>A	ENST00000508053.1	-	32	4403	c.3429C>T	c.(3427-3429)ttC>ttT	p.F1143F	FBN2_ENST00000507835.1_5'UTR|FBN2_ENST00000508989.1_Silent_p.F1110F|FBN2_ENST00000262464.4_Silent_p.F1143F			P35556	FBN2_HUMAN	fibrillin 2	1143	EGF-like 16; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATAGCCTTCGAAGCACTCGC	0.502000													31	18					0	0	0.00178596	0	0
EVPLL	645027	broad.mit.edu	37	17	18284921	18284921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:18284921G>A	ENST00000399134.4	+	4	581	c.223G>A	c.(223-225)Gag>Aag	p.E75K	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	75										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TGACAGCATCGAGCAGCTGCA	0.662000													7	10					0	0	0.000157383	0	0
TBX21	30009	broad.mit.edu	37	17	45820503	45820503	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:45820503C>T	ENST00000177694.1	+	3	924	c.713C>T	c.(712-714)tCa>tTa	p.S238L		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	238					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAGGAAGTTTCATTTGGGAAA	0.572000													40	21					0	0	0.00148497	0	0
LRRC16A	55604	broad.mit.edu	37	6	25492246	25492246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:25492246C>T	ENST00000329474.6	+	15	1582	c.1214C>T	c.(1213-1215)tCt>tTt	p.S405F		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	405					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						ACTGTCTTCTCTCACCGGTAT	0.408000													8	36					0	0	0.000274275	0	0
MYO1H	283446	broad.mit.edu	37	12	109834264	109834264	+	Silent	SNP	G	G	A	rs142805645	by1000genomes	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:109834264G>A	ENST00000310903.5	+	4	424	c.318G>A	c.(316-318)gaG>gaA	p.E106E	MYO1H_ENST00000431443.2_Silent_p.E106E			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TTTCTGGAGAGAGTGGGGCAG	0.488000													14	28					0	0	0.000308642	0	0
GGTLC1	92086	broad.mit.edu	37	20	23966376	23966376	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:23966376C>T	ENST00000335694.4	-	5	663	c.459G>A	c.(457-459)tgG>tgA	p.W153*	GGTLC1_ENST00000286890.4_Nonsense_Mutation_p.W153*|GGTLC1_ENST00000278765.4_Nonsense_Mutation_p.W153*	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	153							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CCTCCACGGCCCACTTCACGT	0.612000													29	73					0	0	0.00283554	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826539	43826539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:43826539C>T	ENST00000389420.3	-	20	2795	c.2796G>A	c.(2794-2796)atG>atA	p.M932I	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.M932I|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.M86I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	932	TSP type-1 3.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGGAATACTTCATGCAATGGA	0.408000													35	80					0	0	0.00111076	0	0
OPRK1	4986	broad.mit.edu	37	8	54163366	54163366	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:54163366A>G	ENST00000265572.3	-	2	529	c.232T>C	c.(232-234)Tcg>Ccg	p.S78P	OPRK1_ENST00000520287.1_Missense_Mutation_p.S78P	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	78					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	p.S78T(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	ATGACCAGCGAGTTGCCCACC	0.692000													4	21					0	0	0.00024832	0	0
PEAR1	375033	broad.mit.edu	37	1	156883701	156883701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:156883701C>T	ENST00000338302.3	+	23	2996	c.2771C>T	c.(2770-2772)cCa>cTa	p.P924L	PEAR1_ENST00000292357.7_Missense_Mutation_p.P924L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	924	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGTGAGAACCCATATGCCACC	0.622000													9	43					0	0	0.000442599	0	0
TRAV24	28659	broad.mit.edu	37	14	22574118	22574118	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:22574118C>T	ENST00000390453.1	+	0	338																											TACCTCTGTGCCTTTACACAG	0.473000													11	6					0	0	0.00136819	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144865845	144865845	+	Missense_Mutation	SNP	C	C	T	rs148146447		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:144865845C>T	ENST00000369359.4	-	38	6181	c.6143G>A	c.(6142-6144)cGa>cAa	p.R2048Q	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1997Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1806Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1912Q|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R1912Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1912					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)		CTGAAGTCTTCGATTGTCTTC	0.478000			T	PDGFRB	MPD								108	589					0	0	0.000781405	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338312	28338312	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:28338312C>T	ENST00000284987.5	-	1	520	c.399G>A	c.(397-399)cgG>cgA	p.R133R		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	133					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCACTGTGCCCCGATAGAAGC	0.657000													13	21					0	0	0.00136819	0	0
PRL	5617	broad.mit.edu	37	6	22294638	22294638	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:22294638G>A	ENST00000306482.1	-	2	722	c.204_splice	c.e2+1	p.F68_splice	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	68					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	p.F68F(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TGGTACTTACGAATTCGCTGA	0.527000													25	83					0	0	0.00127121	0	0
PRAMEF17	391004	broad.mit.edu	37	1	13716832	13716832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:13716832G>A	ENST00000376098.4	+	2	345	c.319G>A	c.(319-321)Gat>Aat	p.D107N		NM_001099851.1	NP_001093321.1	Q5VTA0	PRA17_HUMAN	PRAME family member 17	107										kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGATTTGCGGGATGTTGATGG	0.522000													22	119					0	0	0.000680045	0	0
IL18R1	8809	broad.mit.edu	37	2	103010956	103010956	+	Missense_Mutation	SNP	C	C	T	rs141625347		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:103010956C>T	ENST00000409599.1	+	11	1495	c.1139C>T	c.(1138-1140)tCt>tTt	p.S380F	IL18R1_ENST00000233957.1_Missense_Mutation_p.S380F			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	380	TIR.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GCTTTTGTGTCTTACCTAAAA	0.358000													20	48					0	0	0.00121646	0	0
UNC5B	219699	broad.mit.edu	37	10	73046512	73046512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:73046512G>A	ENST00000335350.6	+	5	1035	c.619G>A	c.(619-621)Gac>Aac	p.D207N	UNC5B_ENST00000373192.4_Missense_Mutation_p.D207N	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	207	Ig-like C2-type.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCTCACCATCGACCACAACCT	0.612000													47	53					0	0	0.000781405	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540786	133540786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:133540786C>T	ENST00000409261.1	-	14	3971	c.3598G>A	c.(3598-3600)Gag>Aag	p.E1200K	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E1200K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1200							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTGTGATCTCCATGCTTGCT	0.488000													18	54					0	0	0.000566183	0	0
KRT71	112802	broad.mit.edu	37	12	52943863	52943863	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:52943863C>T	ENST00000267119.5	-	2	675	c.606G>A	c.(604-606)ctG>ctA	p.L202L		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	202	Coil 1B.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCTCCGAGTCCAGCCTCACCC	0.587000													61	48					0	0	0.000781405	0	0
KIAA1244	57221	broad.mit.edu	37	6	138619790	138619790	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:138619790C>T	ENST00000251691.4	+	22	3862	c.3696C>T	c.(3694-3696)ttC>ttT	p.F1232F		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1232					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTGTTTCCTTCATCCATGACA	0.478000													7	12					0	0	0.000157383	0	0
GLP2R	9340	broad.mit.edu	37	17	9783831	9783831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:9783831C>T	ENST00000262441.5	+	11	1795	c.1282C>T	c.(1282-1284)Cat>Tat	p.H428Y	GLP2R_ENST00000574745.1_Missense_Mutation_p.H248Y	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	428					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GAGCTCCTTTCATGTAAGTAG	0.403000													20	33					0	0	0.00152264	0	0
CHRDL1	91851	broad.mit.edu	37	X	109931860	109931860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:109931860C>T	ENST00000218054.4	-	9	1143	c.947G>A	c.(946-948)gGa>gAa	p.G316E	CHRDL1_ENST00000482160.1_Missense_Mutation_p.G237E|CHRDL1_ENST00000372042.1_Missense_Mutation_p.G317E|CHRDL1_ENST00000394797.4_Missense_Mutation_p.G316E|CHRDL1_ENST00000444321.2_Missense_Mutation_p.G316E|CHRDL1_ENST00000372045.1_Missense_Mutation_p.G310E|CHRDL1_ENST00000434224.1_Missense_Mutation_p.G237E	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	310	VWFC 3.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GCAGCATTTTCCGTCTATTTT	0.443000													48	54					0	0	0.000781405	0	0
TCF3	6929	broad.mit.edu	37	19	1615672	1615672	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:1615672G>A	ENST00000395423.3	-	14	1473	c.1446C>T	c.(1444-1446)acC>acT	p.T482T	TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000588136.1_Intron			P15923	TFE2_HUMAN	transcription factor 3	528					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		AGTGCCGAGGGGTGGGTTGGC	0.687000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								48	36					0	0	0.000781405	0	0
MOB3C	148932	broad.mit.edu	37	1	47080744	47080744	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:47080744T>C	ENST00000271139.8	-	1	61	c.5A>G	c.(4-6)aAg>aGg	p.K2R	MOB3C_ENST00000371940.1_5'UTR|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000319928.3_Intron|MOB3C_ENST00000477318.1_Intron	NM_145279.4	NP_660322.2	Q70IA8	MOL2C_HUMAN	MOB kinase activator 3C	0							metal ion binding										ATTTCTGCGCTTCATTTGCCA	0.522000													23	35					0	0	0.00047179	0	0
PRKAG1	5571	broad.mit.edu	37	12	49397357	49397357	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:49397357G>A	ENST00000548065.1	-	10	1181	c.725C>T	c.(724-726)tCc>tTc	p.S242F	RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.S251F|PRKAG1_ENST00000547306.1_Missense_Mutation_p.S191F|PRKAG1_ENST00000395170.3_Missense_Mutation_p.S158F|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.S210F			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	242	CBS 3.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						ATCAAACTTGGAGTAGATGTC	0.542000													11	33					0	0	0.000978159	0	0
FAM184A	79632	broad.mit.edu	37	6	119345183	119345183	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:119345183G>A	ENST00000338891.7	-	2	1398	c.955C>T	c.(955-957)Ctt>Ttt	p.L319F	FAM184A_ENST00000352896.5_Missense_Mutation_p.L199F|FAM184A_ENST00000521531.1_Missense_Mutation_p.L319F|FAM184A_ENST00000522284.1_Missense_Mutation_p.L199F|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.L199F	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	319										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTGTCAAGAAGACTTCCAGCT	0.348000													52	70					0	0	0.000781405	0	0
CRLF2	64109	broad.mit.edu	37	X	1327758	1327758	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:1327758G>A	ENST00000381567.3	-	2	122	c.123C>T	c.(121-123)acC>acT	p.T41T	CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Silent_p.T41T	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	41						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TCACCTGCACGGTTTCTAAAT	0.478000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								81	109					0	0	0.000781405	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182908376	182908376	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:182908376C>T	ENST00000367547.3	-	5	1247	c.1011G>A	c.(1009-1011)tgG>tgA	p.W337*	SHCBP1L_ENST00000423786.1_Nonsense_Mutation_p.W218*|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	409										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						AGTATTTTTTCCAGCATTCAA	0.358000													60	48					0	0	0.000781405	0	0
SALL1	6299	broad.mit.edu	37	16	51173298	51173298	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:51173298C>T	ENST00000440970.1	-	2	2975	c.2544G>A	c.(2542-2544)gaG>gaA	p.E848E	SALL1_ENST00000251020.4_Silent_p.E945E|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	945					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTGGTTTCTCCTCAATGCTGG	0.552000													10	25					0	0	0.00136819	0	0
DMBT1	1755	broad.mit.edu	37	10	124358479	124358479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:124358479G>A	ENST00000338354.3	+	26	3252	c.3146G>A	c.(3145-3147)gGt>gAt	p.G1049D	DMBT1_ENST00000368909.3_Missense_Mutation_p.G1049D|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1039D|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.G550D|DMBT1_ENST00000330163.4_Missense_Mutation_p.G550D|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1039D			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1049	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCCCGGTTTGGTCAGGGCTCA	0.597000													98	104					0	0	0.000781405	0	0
SLC44A3	126969	broad.mit.edu	37	1	95307626	95307626	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:95307626A>C	ENST00000271227.6	+	8	933	c.831A>C	c.(829-831)gaA>gaC	p.E277D	SLC44A3_ENST00000532427.1_Missense_Mutation_p.E197D|SLC44A3_ENST00000446120.2_Missense_Mutation_p.E241D|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000529450.1_Missense_Mutation_p.E245D|SLC44A3_ENST00000467909.1_Missense_Mutation_p.E229D|SLC44A3_ENST00000527077.1_Missense_Mutation_p.E209D|RP11-465K1.2_ENST00000422162.1_RNA	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	277						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TGGACACAGAAAGGGAAAATA	0.468000													45	252					0	0	0.00285205	0	0
OR10H3	26532	broad.mit.edu	37	19	15852289	15852289	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:15852289C>T	ENST00000305892.1	+	1	87	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTGTCTTGTTCCTGCTGTACC	0.493000													60	185					0	0	0.000781405	0	0
IPO8	10526	broad.mit.edu	37	12	30833521	30833521	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:30833521G>A	ENST00000256079.4	-	5	872	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	178					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TACGAGGCAGGAATATCTGCA	0.353000													35	88					0	0	0.00148497	0	0
DMBT1	1755	broad.mit.edu	37	10	124390604	124390604	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:124390604G>A	ENST00000338354.3	+	46	5872	c.5766G>A	c.(5764-5766)gtG>gtA	p.V1922V	DMBT1_ENST00000368909.3_Silent_p.V1922V|DMBT1_ENST00000368955.3_Silent_p.V1912V|DMBT1_ENST00000359586.6_Silent_p.V642V|DMBT1_ENST00000368956.2_Silent_p.V1294V|DMBT1_ENST00000330163.4_Silent_p.V1294V|DMBT1_ENST00000344338.3_Silent_p.V1912V			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1922	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AAGCTGAGGTGGTCTGCAGAC	0.532000													42	19					0	0	0.0025221	0	0
CD86	942	broad.mit.edu	37	3	121822506	121822506	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:121822506G>A	ENST00000330540.2	+	3	328	c.212G>A	c.(211-213)gGc>gAc	p.G71D	CD86_ENST00000469710.1_5'UTR|CD86_ENST00000493101.1_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.G65D|CD86_ENST00000264468.5_Intron	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	71	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GTATACTTAGGCAAAGAGAAA	0.433000													18	41					0	0	0.00121646	0	0
PKHD1	5314	broad.mit.edu	37	6	51889718	51889718	+	Silent	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:51889718C>A	ENST00000371117.3	-	32	5165	c.4890G>T	c.(4888-4890)ggG>ggT	p.G1630G	PKHD1_ENST00000340994.4_Silent_p.G1630G	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1630	IPT/TIG 11.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGAGCCATTCCCTGTGGGAA	0.488000													34	39					1.836e-18	6.78449e-18	0.000692331	1	0
ADCYAP1R1	117	broad.mit.edu	37	7	31102932	31102932	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:31102932G>A	ENST00000304166.4	+	2	340		c.e2+1		ADCYAP1R1_ENST00000396211.2_Splice_Site|ADCYAP1R1_ENST00000409363.1_Splice_Site|ADCYAP1R1_ENST00000409489.1_Splice_Site	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I						activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GCTGCCTATGGTAAGGGCCCA	0.592000													10	79					0	0	0.000673444	0	0
DGKE	8526	broad.mit.edu	37	17	54912440	54912440	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:54912440A>C	ENST00000284061.3	+	2	464	c.284A>C	c.(283-285)gAc>gCc	p.D95A	DGKE_ENST00000576869.1_3'UTR|C17orf67_ENST00000487705.1_Intron|DGKE_ENST00000572810.1_Missense_Mutation_p.D95A	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	95					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					CTCCGCGTGGACGAGGGCTGC	0.637000													14	21					0	0	0.00185496	0	0
PCSK5	5125	broad.mit.edu	37	9	78973651	78973651	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:78973651G>A	ENST00000545128.1	+	37	5934	c.5396G>A	c.(5395-5397)aGc>aAc	p.S1799N		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	616					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						TATAGAGAGAGCACCAGCTTT	0.512000													78	112					0	0	0.000781405	0	0
TMEM38A	79041	broad.mit.edu	37	19	16799065	16799065	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:16799065C>T	ENST00000187762.2	+	6	874	c.783C>T	c.(781-783)aaC>aaT	p.N261N		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	261						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						ACCACGACAACCATGGTGGGT	0.637000													33	91					0	0	0.00178596	0	0
POPDC2	64091	broad.mit.edu	37	3	119367193	119367193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:119367193G>A	ENST00000493094.1	-	3	1382	c.923C>T	c.(922-924)cCc>cTc	p.P308L	POPDC2_ENST00000264231.3_Missense_Mutation_p.P308L|POPDC2_ENST00000468801.1_Missense_Mutation_p.P308L|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000538678.1_Missense_Mutation_p.P308L			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	308						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		AGAACAAGGGGGTGTTTGCTG	0.607000													32	17					0	0	0.000814825	0	0
ARGFX	503582	broad.mit.edu	37	3	121289614	121289614	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:121289614G>A	ENST00000334384.3	+	1	64	c.54G>A	c.(52-54)agG>agA	p.R18R		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	18						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TCATCAATAGGAATTATTCCA	0.463000													17	56					0	0	0.000958276	0	0
FOXP2	93986	broad.mit.edu	37	7	114329980	114329980	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:114329980G>A	ENST00000408937.3	+	18	2596	c.2222G>A	c.(2221-2223)tGa>tAa	p.*741*	FOXP2_ENST00000393489.3_Silent_p.*624*|FOXP2_ENST00000393494.2_Silent_p.*716*|FOXP2_ENST00000350908.4_Silent_p.*716*|FOXP2_ENST00000393491.3_Silent_p.*531*|FOXP2_ENST00000393498.2_Silent_p.*695*|FOXP2_ENST00000403559.4_Silent_p.*733*	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	0					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	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(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GATCTGGAATGAGAACTGACT	0.403000													9	33					0	0	0.000673444	0	0
CD163L1	283316	broad.mit.edu	37	12	7559179	7559179	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:7559179T>A	ENST00000313599.3	-	5	1093	c.1036A>T	c.(1036-1038)Acc>Tcc	p.T346S	CD163L1_ENST00000416109.2_Missense_Mutation_p.T356S|CD163L1_ENST00000396630.1_Missense_Mutation_p.T346S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	346	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AAATTGACGGTTCCGGAATGT	0.423000													9	40					0	0	0.000978159	0	0
PRDM8	56978	broad.mit.edu	37	4	81124550	81124550	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:81124550G>A	ENST00000339711.4	+	10	3165	c.1934G>A	c.(1933-1935)aGg>aAg	p.R645K	PRDM8_ENST00000415738.2_Missense_Mutation_p.R645K|PRDM8_ENST00000504452.1_Missense_Mutation_p.R645K	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	645					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TACCATATGAGGTCGCACCAC	0.602000													7	17					0	0	0.000157383	0	0
ZNF19	7567	broad.mit.edu	37	16	71510036	71510036	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:71510036G>A	ENST00000288177.5	-	6	669	c.414C>T	c.(412-414)caC>caT	p.H138H	ZNF19_ENST00000565637.1_Silent_p.H96H|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000564230.1_Silent_p.H138H|ZNF19_ENST00000565100.2_Silent_p.H68H	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	138						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		GGATGTCCTGGTGCTTTTCCA	0.458000													14	28					0	0	0.00185496	0	0
XIRP1	165904	broad.mit.edu	37	3	39225952	39225952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:39225952G>A	ENST00000340369.3	-	2	5213	c.4985C>T	c.(4984-4986)tCc>tTc	p.S1662F	XIRP1_ENST00000421646.1_Missense_Mutation_p.S345F|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1662							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ATCTCGGCTGGAAGGTAAAAC	0.542000													32	99					0	0	0.00283554	0	0
DOCK3	1795	broad.mit.edu	37	3	51297624	51297624	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:51297624G>A	ENST00000266037.9	+	23	2245	c.2222G>A	c.(2221-2223)cGg>cAg	p.R741Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	741						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTACAGTCACGGATCCTGTAC	0.458000													5	36					0	0	0.00116845	0	0
CDH11	1009	broad.mit.edu	37	16	64981796	64981796	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:64981796G>A	ENST00000268603.4	-	13	2716	c.2101C>T	c.(2101-2103)Cag>Tag	p.Q701*	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Nonsense_Mutation_p.Q575*	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	701					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGCATGTACTGATACTCAGGT	0.527000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			31	72					0	0	0.0024448	0	0
PSPC1	55269	broad.mit.edu	37	13	20346608	20346608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:20346608G>A	ENST00000338910.4	-	2	607	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	150	RRM 1.|Sufficient for paraspeckles localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		GTAGCGAAGCGAATCCGTAGA	0.453000													24	37					0	0	0.00278032	0	0
BAI3	577	broad.mit.edu	37	6	69348981	69348981	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:69348981C>T	ENST00000370598.1	+	3	1235	c.414C>T	c.(412-414)ttC>ttT	p.F138F		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	138	CUB.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAACTAATTTCCCAGGATTAC	0.333000													10	23					0	0	0.000978159	0	0
MX2	4600	broad.mit.edu	37	21	42767678	42767678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:42767678G>A	ENST00000330714.3	+	7	1220	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	MX2_ENST00000543692.1_3'UTR|MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	346					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AACCAAGAAAGAAATTACATT	0.488000													8	47					0	0	0.00136819	0	0
SRCAP	10847	broad.mit.edu	37	16	30724869	30724869	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:30724869C>T	ENST00000262518.4	+	16	2715	c.2330C>T	c.(2329-2331)cCc>cTc	p.P777L	SRCAP_ENST00000344771.4_Missense_Mutation_p.P777L|SRCAP_ENST00000395059.2_Missense_Mutation_p.P777L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	777	Helicase ATP-binding.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ACAGGAACTCCCTTGCAGAAC	0.512000													31	68					0	0	0.000953801	0	0
KIAA2018	205717	broad.mit.edu	37	3	113378867	113378867	+	Silent	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:113378867A>T	ENST00000316407.4	-	7	2072	c.1662T>A	c.(1660-1662)atT>atA	p.I554I	KIAA2018_ENST00000478658.1_Silent_p.I554I|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	554					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GTGGCTGAAGAATTATAACAT	0.433000													25	52					0	0	0.00106085	0	0
ZNF304	57343	broad.mit.edu	37	19	57868827	57868827	+	Silent	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:57868827T>C	ENST00000391705.3	+	4	1874	c.1590T>C	c.(1588-1590)ccT>ccC	p.P530P	ZNF304_ENST00000443917.2_Silent_p.P577P|ZNF304_ENST00000598744.1_Silent_p.P488P|ZNF304_ENST00000282286.5_Silent_p.P530P	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	530					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)		GAGCAAAGCCTTATGAGTGCA	0.453000													11	16					0	0	0.00185496	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94668201	94668201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:94668201G>A	ENST00000260526.6	-	11	1224	c.1042C>T	c.(1042-1044)Cgt>Tgt	p.R348C	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.R348C	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	348					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCTTCTGCACGAAACATGGAA	0.408000													107	126					0	0	0.000781405	0	0
IMPG2	50939	broad.mit.edu	37	3	101023106	101023106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:101023106G>A	ENST00000193391.7	-	3	572	c.385C>T	c.(385-387)Cct>Tct	p.P129S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	129					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						TCACGCCCAGGAAGTCGATCC	0.413000													12	23					0	0	0.00185496	0	0
PAFAH1B1	5048	broad.mit.edu	37	17	2568691	2568691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:2568691C>T	ENST00000397195.5	+	3	509	c.58C>T	c.(58-60)Cgt>Tgt	p.R20C		NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	20	Interaction with NDE1 (By similarity).|Interaction with NDEL1 (By similarity).|LisH.|Required for self-association and interaction with PAFAH1B2 and PAFAH1B3 (By similarity).				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						AGATTATCTTCGTTCAAATGG	0.274000													21	35					0	0	0.000720815	0	0
ANKAR	150709	broad.mit.edu	37	2	190585403	190585403	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:190585403A>G	ENST00000520309.1	+	12	2613	c.2525A>G	c.(2524-2526)aAt>aGt	p.N842S	ANKAR_ENST00000281412.6_Missense_Mutation_p.N606S|ANKAR_ENST00000313581.4_Missense_Mutation_p.N842S|ANKAR_ENST00000431575.2_Missense_Mutation_p.N771S|ANKAR_ENST00000438402.2_Missense_Mutation_p.N842S	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	842						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GTGCTAGTAAATGTAATGAAC	0.299000													56	232					0	0	0.000781405	0	0
PAPPA	5069	broad.mit.edu	37	9	119115011	119115011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:119115011G>A	ENST00000328252.3	+	16	4360	c.3991G>A	c.(3991-3993)Gag>Aag	p.E1331K	PAPPA_ENST00000534838.1_Missense_Mutation_p.E369K	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1331	Sushi 2.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GACCTGCATGGAGGATGGGCT	0.587000													25	56					0	0	0.00106085	0	0
MIP	4284	broad.mit.edu	37	12	56848292	56848292	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:56848292G>A	ENST00000257979.4	-	1	134	c.106C>T	c.(106-108)Cct>Tct	p.P36S	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	36					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						AGGGGTCCAGGAGCCCAGCGC	0.582000													22	50					0	0	0.00047179	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6213229	6213229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:6213229C>T	ENST00000400104.3	-	12	1100	c.900G>A	c.(898-900)atG>atA	p.M300I	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.M300I|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.M113I|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.M300I|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.M300I			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	300					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CTTCAAGTTTCATATTTGGCA	0.318000													26	47					0	0	0.00209593	0	0
ACSS3	79611	broad.mit.edu	37	12	81545701	81545701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:81545701G>A	ENST00000548058.1	+	6	1910	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	ACSS3_ENST00000261206.3_Missense_Mutation_p.E333K|ACSS3_ENST00000548324.1_Missense_Mutation_p.E16K			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	334						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TCAACCCGGAGAGGTAATCGT	0.388000													31	12					0	0	0.00178596	0	0
ATP8B4	79895	broad.mit.edu	37	15	50215689	50215689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:50215689G>A	ENST00000284509.6	-	17	1786	c.1645C>T	c.(1645-1647)Cga>Tga	p.R549*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.R549*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	549					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCTGGGTTTCGAACTGAAAAG	0.378000													7	20					0	0	0.000274275	0	0
FAM21C	253725	broad.mit.edu	37	10	46254773	46254773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:46254773C>T	ENST00000336378.4	+	17	1677	c.1559C>T	c.(1558-1560)tCt>tTt	p.S520F	FAM21C_ENST00000540872.1_Missense_Mutation_p.S520F|FAM21C_ENST00000374362.2_Missense_Mutation_p.S520F|FAM21C_ENST00000537517.1_Missense_Mutation_p.S496F|FAM21C_ENST00000359860.4_Missense_Mutation_p.S464F	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	520										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GTTACCTTATCTTACAGCAAA	0.403000													20	38					0	0	0.00278032	0	0
CCDC8	83987	broad.mit.edu	37	19	46915887	46915887	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:46915887T>C	ENST00000307522.3	-	1	954	c.181A>G	c.(181-183)Aag>Gag	p.K61E		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	61						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		ggggtgctcttctccatgatg	0.657000													17	55					0	0	0.00121646	0	0
HMCN1	83872	broad.mit.edu	37	1	186043883	186043883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:186043883C>T	ENST00000271588.4	+	53	8379	c.8150C>T	c.(8149-8151)tCc>tTc	p.S2717F	HMCN1_ENST00000367492.2_Missense_Mutation_p.S2717F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2717	Ig-like C2-type 25.				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						CCCCTTAAATCCGATGATCAT	0.353000													13	27					0	0	0.000308642	0	0
SVEP1	79987	broad.mit.edu	37	9	113231282	113231282	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:113231282T>G	ENST00000401783.2	-	17	3434	c.3098A>C	c.(3097-3099)aAg>aCg	p.K1033T	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.K1010T|SVEP1_ENST00000302728.8_Missense_Mutation_p.K1033T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1033					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGGGCAAAGCTTGCACTCAAG	0.443000													13	66					0	0	0.000308642	0	0
TTN	7273	broad.mit.edu	37	2	179659879	179659879	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179659879G>A	ENST00000589042.1	-	7	1239	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S	TTN_ENST00000360870.5_Missense_Mutation_p.P339S|TTN_ENST00000591111.1_Missense_Mutation_p.P339S|TTN_ENST00000359218.5_Missense_Mutation_p.P339S|TTN_ENST00000342175.6_Missense_Mutation_p.P339S|TTN_ENST00000342992.6_Missense_Mutation_p.P339S|TTN_ENST00000460472.2_Missense_Mutation_p.P339S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	339	ZIS1.						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)			GGCACTTCAGGACCTGTGGCC	0.562000													43	52					0	0	0.00285205	0	0
GBP1P1	400759	broad.mit.edu	37	1	89890038	89890038	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:89890038C>T	ENST00000513638.1	+	0	779					NR_003133.2																						CTTGAGGTTTCTGTTTTTCTG	0.488000													37	134					0	0	0.000814825	0	0
FBXO33	254170	broad.mit.edu	37	14	39868916	39868916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:39868916G>A	ENST00000298097.7	-	4	1809	c.1472C>T	c.(1471-1473)aCc>aTc	p.T491I	FBXO33_ENST00000554190.1_3'UTR	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	491										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		GCTTTCTTCGGTGACTTCAAG	0.483000													9	18					0	0	0.000442599	0	0
CCDC65	85478	broad.mit.edu	37	12	49315121	49315121	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:49315121G>A	ENST00000266984.5	+	8	1577	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L	ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Silent_p.L450L			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	450										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						ACGAAGTGCTGAGCCAGCTCA	0.493000													24	42					0	0	0.00047179	0	0
SALL1	6299	broad.mit.edu	37	16	51175853	51175853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:51175853G>A	ENST00000251020.4	-	2	313	c.280C>T	c.(280-282)Cct>Tct	p.P94S	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	94					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGTTCATCAGGATTATCAGGA	0.448000													33	76					0	0	0.000692331	0	0
MUC16	94025	broad.mit.edu	37	19	9068288	9068288	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9068288G>A	ENST00000397910.4	-	3	19361	c.19158C>T	c.(19156-19158)gtC>gtT	p.V6386V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6388	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTTGTCAAAGACCGTGCTTG	0.463000													11	46					0	0	0.000673444	0	0
VAV3	10451	broad.mit.edu	37	1	108417609	108417609	+	Missense_Mutation	SNP	G	G	A	rs151122345		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:108417609G>A	ENST00000370056.4	-	2	509	c.235C>T	c.(235-237)Ctc>Ttc	p.L79F	VAV3_ENST00000527011.1_Missense_Mutation_p.L79F|VAV3_ENST00000371846.4_Missense_Mutation_p.L14F	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	79	CH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAGGCCGTGAGAAATGTCCTT	0.383000													52	26					0	0	0.000781405	0	0
EPHA10	284656	broad.mit.edu	37	1	38185215	38185215	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:38185215T>C	ENST00000373048.4	-	15	2626	c.2627A>G	c.(2626-2628)cAc>cGc	p.H876R	EPHA10_ENST00000330210.7_Missense_Mutation_p.H371R|EPHA10_ENST00000427468.2_Missense_Mutation_p.H876R|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	876	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CATTAGTCGGTGCAGAAGGTT	0.627000													47	39					0	0	0.000781405	0	0
CHD4	1108	broad.mit.edu	37	12	6710877	6710877	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:6710877T>A	ENST00000309577.6	-	5	657	c.494A>T	c.(493-495)cAc>cTc	p.H165L	CHD4_ENST00000544484.1_Missense_Mutation_p.H162L|CHD4_ENST00000544040.1_Missense_Mutation_p.H158L|CHD4_ENST00000357008.2_Missense_Mutation_p.H165L			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	165					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TGAGAACACGTGGTCAATGTC	0.512000													79	213					0	0	0.000781405	0	0
ANO5	203859	broad.mit.edu	37	11	22276938	22276938	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:22276938G>A	ENST00000324559.8	+	13	1519	c.1202G>A	c.(1201-1203)tGg>tAg	p.W401*		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	401						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTGGAGTTTTGGAAACAACGA	0.338000													25	33					0	0	0.000720815	0	0
IL9R	3581	broad.mit.edu	37	X	155233513	155233513	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:155233513G>A	ENST00000540897.1	+	5	598	c.530G>A	c.(529-531)gGa>gAa	p.G177E	IL9R_ENST00000244174.5_Silent_p.R142R|IL9R_ENST00000424344.3_Silent_p.R121R|IL9R_ENST00000369423.2_Missense_Mutation_p.G187E	NM_176786.1	NP_789743.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	151	Fibronectin type-III.				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)					ACCTGCCCCGGAGACACGGTG	0.617000													24	19					0	0	0.001512	0	0
NOL4	8715	broad.mit.edu	37	18	31538286	31538286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:31538286C>T	ENST00000261592.5	-	7	1450	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	NOL4_ENST00000538587.1_Missense_Mutation_p.E311K|NOL4_ENST00000269185.4_Missense_Mutation_p.E271K|NOL4_ENST00000535384.1_Missense_Mutation_p.E100K|NOL4_ENST00000535475.1_Missense_Mutation_p.E230K|NOL4_ENST00000589544.1_Missense_Mutation_p.E385K	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	385						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TGGTCATCTTCGTCCTCATCT	0.502000													62	104					0	0	0.000781405	0	0
PAK7	57144	broad.mit.edu	37	20	9538276	9538276	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:9538276G>A	ENST00000378429.3	-	8	2268	c.1722C>T	c.(1720-1722)atC>atT	p.I574I	PAK7_ENST00000378423.1_Silent_p.I574I|PAK7_ENST00000353224.5_Silent_p.I574I	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	574	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTGTCAGGAGGATGGAGTCAC	0.453000													15	14					0	0	0.000308642	0	0
CPAMD8	27151	broad.mit.edu	37	19	17091442	17091442	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:17091442G>A	ENST00000443236.1	-	14	1622	c.1591C>T	c.(1591-1593)Ctg>Ttg	p.L531L	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	484						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TCGTAGTACAGGGTAAAGTTG	0.592000													45	55					0	0	0.000781405	0	0
APOB	338	broad.mit.edu	37	2	21230280	21230280	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:21230280C>T	ENST00000233242.1	-	26	9587	c.9460G>A	c.(9460-9462)Gaa>Aaa	p.E3154K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3154					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCTGTTTTTTCCCATAGAGAG	0.348000													93	346					0	0	0.000781405	0	0
CFTR	1080	broad.mit.edu	37	7	117175322	117175322	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:117175322C>T	ENST00000003084.6	+	6	732	c.600C>T	c.(598-600)ttC>ttT	p.F200F	CFTR_ENST00000454343.1_Silent_p.F200F	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	200	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGGCACATTTCGTGTGGATCG	0.453000									Cystic Fibrosis				56	198					0	0	0.000781405	0	0
PGBD5	79605	broad.mit.edu	37	1	230486707	230486707	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:230486707G>A	ENST00000321327.2	-	5	980	c.981C>T	c.(979-981)atC>atT	p.I327I	PGBD5_ENST00000525115.1_Silent_p.I228I|PGBD5_ENST00000391860.1_Silent_p.I182I			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	228						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GGCTCACCTGGATGATGAAGC	0.557000													28	97					0	0	0.00106085	0	0
RP11-704M14.1	0	broad.mit.edu	37	4	70080499	70080499	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:70080499G>A	ENST00000505646.1	+	0	663																											CTTATATACAGAGATAAATCA	0.363000													10	13					0	0	0.000673444	0	0
SALL1	6299	broad.mit.edu	37	16	51174598	51174598	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:51174598G>A	ENST00000440970.1	-	2	1675	c.1244C>T	c.(1243-1245)cCt>cTt	p.P415L	SALL1_ENST00000251020.4_Missense_Mutation_p.P512L|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	512					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTCAGGCACAGGATAGGGGTT	0.512000													30	60					0	0	0.000692331	0	0
PCSK5	5125	broad.mit.edu	37	9	78848417	78848417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:78848417G>A	ENST00000545128.1	+	22	3309	c.2771G>A	c.(2770-2772)tGg>tAg	p.W924*		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	625					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						TGCCCCTCATGGAAATTTGAA	0.502000													14	48					0	0	0.000422831	0	0
RANBP2	5903	broad.mit.edu	37	2	109380827	109380827	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:109380827C>T	ENST00000283195.6	+	20	3958	c.3832C>T	c.(3832-3834)Cca>Tca	p.P1278S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1278	RanBD1 1.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GTTGCCAAAACCAGAACAACT	0.393000													8	82					0	0	0.000442599	0	0
PPFIA2	8499	broad.mit.edu	37	12	81751897	81751897	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:81751897C>T	ENST00000550584.2	-	15	2032	c.1737G>A	c.(1735-1737)agG>agA	p.R579R	PPFIA2_ENST00000549396.1_Silent_p.R579R|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Silent_p.R426R|PPFIA2_ENST00000541570.2_Silent_p.R146R|PPFIA2_ENST00000548586.1_Silent_p.R579R|PPFIA2_ENST00000549325.1_Silent_p.R561R|PPFIA2_ENST00000443686.3_Silent_p.R480R|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000552948.1_Silent_p.R579R|PPFIA2_ENST00000407050.4_Silent_p.R505R|PPFIA2_ENST00000333447.7_Silent_p.R561R	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	505										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGCGGCCTCTCCTTGGTCTTC	0.408000													5	6					0	0	0.00116845	0	0
SLC34A2	10568	broad.mit.edu	37	4	25677759	25677759	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:25677759C>T	ENST00000382051.3	+	13	1511	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	SLC34A2_ENST00000504570.1_Silent_p.I486I|SLC34A2_ENST00000503434.1_Silent_p.I486I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	487					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGTTGCAGATCGCCCTGTGCC	0.602000			T	ROS1	NSCLC								7	14					0	0	0.000157383	0	0
IL31	386653	broad.mit.edu	37	12	122658458	122658458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:122658458C>T	ENST00000377035.1	-	2	124	c.98G>A	c.(97-99)cGa>cAa	p.R33Q		NM_001014336.1	NP_001014358.1	Q6EBC2	IL31_HUMAN	interleukin 31	33						extracellular space	cytokine activity			central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		ATCACTTGGTCGTAGTAAACG	0.502000													51	29					0	0	0.000781405	0	0
GALNT14	79623	broad.mit.edu	37	2	31135209	31135209	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:31135209C>T	ENST00000349752.5	-	14	2020		c.e14-1		GALNT14_ENST00000324589.5_Splice_Site|GALNT14_ENST00000420311.2_Splice_Site|GALNT14_ENST00000406653.1_Splice_Site|GALNT14_ENST00000356174.3_Splice_Site|GALNT14_ENST00000486564.1_Splice_Site	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)							Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AGGCCCATACCTGGGGAGAAA	0.547000													16	83					0	0	0.000958276	0	0
LMBR1	64327	broad.mit.edu	37	7	156619310	156619310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:156619310G>A	ENST00000353442.4	-	4	544	c.308C>T	c.(307-309)tCc>tTc	p.S103F	LMBR1_ENST00000540390.1_Missense_Mutation_p.S82F|LMBR1_ENST00000354505.4_Missense_Mutation_p.S103F	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	103						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		ATGAATCAGGGAGCCATTTAG	0.323000													3	8					0	0	6.4e-05	0	0
DNAH7	56171	broad.mit.edu	37	2	196741308	196741308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:196741308C>T	ENST00000312428.6	-	37	6177	c.6077G>A	c.(6076-6078)aGa>aAa	p.R2026K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2026	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCCTTTCTTCTCTTGTCCAA	0.398000													35	44					0	0	0.00128727	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110510883	110510883	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:110510883G>A	ENST00000378402.5	+	67	10815		c.e67-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTGGTAAAAGGTGGGAGAAG	0.398000										HNSCC(38;0.096)			22	10					0	0	0.00047179	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687801	27687801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:27687801C>T	ENST00000438700.3	-	4	1843	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	576					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GTTCCATGTTCATCTGGGACA	0.383000													15	9					0	0	0.00244969	0	0
OR2W5	441932	broad.mit.edu	37	1	247655219	247655219	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:247655219C>T	ENST00000522351.1	+	0	850							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-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)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGAAGCCGGCCAACAGCTACT	0.522000													63	43					0	0	0.000781405	0	0
IGF2R	3482	broad.mit.edu	37	6	160494835	160494835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:160494835C>T	ENST00000356956.1	+	35	5142	c.4994C>T	c.(4993-4995)cCc>cTc	p.P1665L		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1665					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GACTTGTCTCCCCTTATTCAT	0.418000													17	24					0	0	0.00188189	0	0
BSND	7809	broad.mit.edu	37	1	55474182	55474182	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:55474182G>A	ENST00000371265.4	+	4	1098	c.844G>A	c.(844-846)Gac>Aac	p.D282N		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	282						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GGAGGCTTCGGACACAGGTGG	0.597000													36	23					0	0	0.00283554	0	0
FAM135B	51059	broad.mit.edu	37	8	139164862	139164862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:139164862C>T	ENST00000395297.1	-	13	2026	c.1856G>A	c.(1855-1857)gGa>gAa	p.G619E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	619										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)			TATTCCCTTTCCTAGAGTACT	0.478000										HNSCC(54;0.14)			29	93					0	0	0.001512	0	0
UNC13C	440279	broad.mit.edu	37	15	54305220	54305220	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:54305220G>A	ENST00000545554.1	+	1	120	c.120G>A	c.(118-120)aaG>aaA	p.K40K	UNC13C_ENST00000537900.1_Silent_p.K40K|UNC13C_ENST00000260323.11_Silent_p.K40K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	40					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGCAGAAAAAGGATCAAGACT	0.368000													27	10					0	0	0.00127121	0	0
MAG	4099	broad.mit.edu	37	19	35801058	35801058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:35801058G>A	ENST00000361922.4	+	8	1663	c.1513G>A	c.(1513-1515)Gga>Aga	p.G505R	MAG_ENST00000537831.2_Missense_Mutation_p.G480R|MAG_ENST00000392213.3_Missense_Mutation_p.G505R|MAG_ENST00000593348.1_3'UTR	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	505	Ig-like C2-type 4.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCCCTTCCAGGGAGCCCGTGA	0.677000													23	21					0	0	0.00278032	0	0
BHLHE40	8553	broad.mit.edu	37	3	5024874	5024874	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:5024874G>A	ENST00000256495.3	+	5	1339	c.736G>A	c.(736-738)Gga>Aga	p.G246R		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	246						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CAGTGGCTATGGAGGAGAATC	0.582000													25	48					0	0	0.000878237	0	0
IYD	389434	broad.mit.edu	37	6	150713566	150713566	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:150713566C>T	ENST00000344419.3	+	3	596	c.456C>T	c.(454-456)atC>atT	p.I152I	IYD_ENST00000229447.5_Silent_p.I152I|IYD_ENST00000500320.3_Silent_p.I152I|IYD_ENST00000392256.2_Silent_p.I152I|IYD_ENST00000425615.3_Silent_p.I97I|IYD_ENST00000392255.3_Silent_p.I152I	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	152					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		p.I152M(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TTCGAAAGATCATTGAGGAGG	0.522000													28	32					0	0	0.000720815	0	0
ABCA6	23460	broad.mit.edu	37	17	67103946	67103946	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:67103946G>A	ENST00000284425.2	-	18	2454	c.2280C>T	c.(2278-2280)ttC>ttT	p.F760F		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	760					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CCAGATCACTGAAAAGATCTA	0.318000													8	21					0	0	0.000157383	0	0
FNDC1	84624	broad.mit.edu	37	6	159687154	159687154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:159687154G>A	ENST00000297267.9	+	21	5523	c.5323G>A	c.(5323-5325)Gat>Aat	p.D1775N	FNDC1_ENST00000340366.6_Missense_Mutation_p.D1712N	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1775						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TTTCAAACATGATCCCAGCTA	0.468000													20	33					0	0	0.000958276	0	0
DNAH1	25981	broad.mit.edu	37	3	52403981	52403981	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:52403981C>T	ENST00000420323.2	+	38	6345	c.6084C>T	c.(6082-6084)ccC>ccT	p.P2028P		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2028	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGCTGCCTCCCTTGCTGAAGC	0.607000													35	103					0	0	0.00111076	0	0
TRERF1	55809	broad.mit.edu	37	6	42237097	42237097	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:42237097C>T	ENST00000541110.1	-	5	800	c.232G>A	c.(232-234)Gat>Aat	p.D78N	TRERF1_ENST00000354325.2_Missense_Mutation_p.D78N|TRERF1_ENST00000372922.4_Missense_Mutation_p.D78N|TRERF1_ENST00000372917.4_Missense_Mutation_p.D78N|TRERF1_ENST00000340840.2_Missense_Mutation_p.D78N			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	78					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTCGAGGTATCCATTTGGCCA	0.582000													40	37					0	0	0.00148497	0	0
AGBL1	123624	broad.mit.edu	37	15	86801215	86801215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:86801215G>A	ENST00000441037.2	+	8	879	c.784G>A	c.(784-786)Gat>Aat	p.D262N	AGBL1_ENST00000421325.2_Missense_Mutation_p.D262N	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	262	Asp-rich.				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGATGATGGCGATGATGAAGT	0.433000													33	66					0	0	0.00111076	0	0
OR6N1	128372	broad.mit.edu	37	1	158736239	158736239	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:158736239G>A	ENST00000335094.2	-	1	253	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GCATCTTAGGGATGGTGGCAG	0.498000													34	49					0	0	0.000692331	0	0
KLF11	8462	broad.mit.edu	37	2	10188702	10188702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:10188702C>T	ENST00000535335.1	+	3	1403	c.1187C>T	c.(1186-1188)gCc>gTc	p.A396V	KLF11_ENST00000540845.1_Missense_Mutation_p.A396V|KLF11_ENST00000305883.1_Missense_Mutation_p.A413V	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	413					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		CACCTTAAGGCCCATCTTCGC	0.557000											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	70	219					0	0	0.000781405	0	0
SV2A	9900	broad.mit.edu	37	1	149883442	149883442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:149883442G>A	ENST00000369146.3	-	3	1203	c.713C>T	c.(712-714)tCg>tTg	p.S238L	SV2A_ENST00000369145.1_Missense_Mutation_p.S238L	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	238					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GACTGAGAGCGAGATGAGCAG	0.582000													9	55					0	0	0.000274275	0	0
IQCA1	79781	broad.mit.edu	37	2	237300694	237300694	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:237300694C>T	ENST00000409907.3	-	11	1612	c.1338G>A	c.(1336-1338)caG>caA	p.Q446Q	IQCA1_ENST00000431676.2_Silent_p.Q405Q|AC019068.2_ENST00000413353.1_RNA|IQCA1_ENST00000309507.5_Silent_p.Q442Q			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	446	Lys-rich.						ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTTTAAGTTCCTGTCTCATCA	0.408000													35	179					0	0	0.00111076	0	0
FAM83D	81610	broad.mit.edu	37	20	37580853	37580853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:37580853C>T	ENST00000217429.4	+	4	1579	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	483					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)				TCTGTGTCTTCCCAAGGCTCT	0.512000													16	56					0	0	0.00074312	0	0
DNM1	1759	broad.mit.edu	37	9	131002264	131002264	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:131002264G>A	ENST00000341179.7	+	14	1638	c.1545_splice	c.e14-1	p.D516_splice	DNM1_ENST00000486160.1_Splice_Site_p.D516_splice|DNM1_ENST00000475805.1_Splice_Site_p.D516_splice|DNM1_ENST00000393594.3_Splice_Site_p.D516_splice|DNM1_ENST00000372923.3_Splice_Site_p.D516_splice	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	516					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CTCTTTGCAGGATGAGATTCT	0.602000													40	132					0	0	0.000781405	0	0
KIAA1210	57481	broad.mit.edu	37	X	118223174	118223174	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:118223174C>T	ENST00000402510.2	-	11	2018	c.2019G>A	c.(2017-2019)gtG>gtA	p.V673V		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	673										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AAAGGCTTTCCACCATCAGTG	0.463000													10	16					0	0	0.000442599	0	0
PDE1B	5153	broad.mit.edu	37	12	54968987	54968987	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:54968987G>A	ENST00000243052.3	+	11	1606	c.1170G>A	c.(1168-1170)gaG>gaA	p.E390E	PDE1B_ENST00000538346.1_Silent_p.E349E|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Silent_p.E370E	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	390	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CCCTCATGGAGGAATTCTTCC	0.572000													27	68					0	0	0.001512	0	0
WDR41	55255	broad.mit.edu	37	5	76736641	76736641	+	Silent	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:76736641T>C	ENST00000296679.4	-	9	1254	c.879A>G	c.(877-879)gaA>gaG	p.E293E	WDR41_ENST00000414719.2_Silent_p.E39E|WDR41_ENST00000507029.1_Silent_p.E238E	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	293										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TTTTTACCTCTTCATCACATG	0.323000													27	17					0	0	0.00106085	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375766	93375766	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:93375766G>A	ENST00000375765.3	-	2	732	c.344C>T	c.(343-345)cCc>cTc	p.P115L		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	115					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						CAGCATGATGGGGATGCTCTC	0.582000													22	86					0	0	0.00047179	0	0
DCTN4	51164	broad.mit.edu	37	5	150102495	150102495	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:150102495G>A	ENST00000447998.2	-	9	997	c.882C>T	c.(880-882)atC>atT	p.I294I	DCTN4_ENST00000446090.2_Silent_p.I301I|DCTN4_ENST00000424236.1_Silent_p.I237I	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	294						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTTGAATTTGATTGACGTTG	0.338000													17	5					0	0	0.00152264	0	0
SMG6	23293	broad.mit.edu	37	17	2202762	2202762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:2202762G>A	ENST00000544865.1	-	2	1702	c.1192C>T	c.(1192-1194)Cct>Tct	p.P398S	SMG6_ENST00000263073.5_Missense_Mutation_p.P429S			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	429	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGTCCCAAAGGCGCGGACTCT	0.547000													36	36					0	0	0.00058488	0	0
HLA-B	3106	broad.mit.edu	37	6	31323340	31323340	+	Missense_Mutation	SNP	G	G	A	rs77659523		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:31323340G>A	ENST00000412585.2	-	4	677	c.649C>T	c.(649-651)Ccc>Tcc	p.P217S		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCAGAGATGGGGTGGTGGGTC	0.582000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				33	36					0	0	0.000953801	0	0
TTC30B	150737	broad.mit.edu	37	2	178416698	178416698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:178416698C>T	ENST00000408939.2	-	1	1044	c.794G>A	c.(793-795)aGa>aAa	p.R265K		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	265					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTCATAGTTTCTCAGTTGGTA	0.512000													45	119					0	0	0.00222228	0	0
SNRNP35	11066	broad.mit.edu	37	12	123950399	123950399	+	Silent	SNP	C	C	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:123950399C>G	ENST00000526639.2	+	2	891	c.312C>G	c.(310-312)gcC>gcG	p.A104A	SNRNP35_ENST00000412157.2_Silent_p.A109A|SNRNP35_ENST00000350887.5_Silent_p.A104A|SNRNP35_ENST00000527158.2_Intron	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	104	RRM.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						AGGAGCGTGCCGTGATCAAAG	0.527000													76	42					0	0	0.000781405	0	0
TSC2	7249	broad.mit.edu	37	16	2138580	2138580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:2138580C>T	ENST00000219476.3	+	42	6023	c.5393C>T	c.(5392-5394)tCc>tTc	p.S1798F	TSC2_ENST00000382538.6_Missense_Mutation_p.S1683F|TSC2_ENST00000401874.2_Missense_Mutation_p.S1731F|TSC2_ENST00000568454.1_Missense_Mutation_p.S1742F|TSC2_ENST00000439673.2_Missense_Mutation_p.S1695F|TSC2_ENST00000350773.4_Missense_Mutation_p.S1775F|TSC2_ENST00000353929.4_Missense_Mutation_p.S1755F	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1798					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CGCCTCATCTCCTCGGTGGAG	0.602000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				11	15					0	0	0.000978159	0	0
SCN2A	6326	broad.mit.edu	37	2	166167084	166167084	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:166167084G>A	ENST00000375437.2	+	7	1239	c.949G>A	c.(949-951)Gat>Aat	p.D317N	SCN2A_ENST00000283256.6_Missense_Mutation_p.D317N|SCN2A_ENST00000375427.2_Missense_Mutation_p.D317N|SCN2A_ENST00000357398.3_Missense_Mutation_p.D317N	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	317					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATTTAACTGGGATGAATATAT	0.259000													5	23					0	0	0.000602214	0	0
EIF4G1	1981	broad.mit.edu	37	3	184035276	184035276	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:184035276C>T	ENST00000342981.4	+	4	729	c.315C>T	c.(313-315)atC>atT	p.I105I	EIF4G1_ENST00000382330.3_Silent_p.I112I|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000319274.6_Silent_p.I105I|EIF4G1_ENST00000392537.2_Silent_p.I18I|EIF4G1_ENST00000346169.2_Silent_p.I105I|EIF4G1_ENST00000414031.1_Silent_p.I65I|EIF4G1_ENST00000424196.1_Silent_p.I112I|EIF4G1_ENST00000427845.1_Silent_p.I18I|EIF4G1_ENST00000352767.3_Silent_p.I112I|EIF4G1_ENST00000411531.1_Silent_p.I65I|EIF2B5_ENST00000444495.1_Intron	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	105					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTACTACATCCCTGGACAGG	0.587000													11	32					0	0	0.00185496	0	0
CD300LB	124599	broad.mit.edu	37	17	72527465	72527465	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:72527465G>A	ENST00000392621.1	-	1	140	c.136C>T	c.(136-138)Ctt>Ttt	p.L46F	CD300LB_ENST00000314401.3_Missense_Mutation_p.L46F	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	9	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						AGGCTGAGAAGGAGCAGAGCA	0.622000													25	59					0	0	0.00127121	0	0
PSD	5662	broad.mit.edu	37	10	104176661	104176661	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:104176661G>A	ENST00000020673.5	-	2	661	c.135C>T	c.(133-135)tcC>tcT	p.S45S	PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Silent_p.S45S	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	45	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCCGTAGCAAGGAGCCTGTGC	0.692000													11	9					0	0	0.000958276	0	0
GRM7	2917	broad.mit.edu	37	3	7620609	7620609	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:7620609C>T	ENST00000486284.1	+	8	2290	c.2016C>T	c.(2014-2016)gcC>gcT	p.A672A	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Silent_p.A672A|GRM7_ENST00000403881.1_Silent_p.A672A|GRM7_ENST00000389336.4_Silent_p.A672A|GRM7_ENST00000402647.2_Silent_p.A672A	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	672					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GTTATGCAGCCCTCTTGACGA	0.458000													22	53					0	0	0.00152264	0	0
DSE	29940	broad.mit.edu	37	6	116757438	116757438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:116757438C>T	ENST00000331677.3	+	7	2251	c.1807C>T	c.(1807-1809)Cat>Tat	p.H603Y	DSE_ENST00000359564.2_Missense_Mutation_p.H603Y|DSE_ENST00000452085.3_Missense_Mutation_p.H603Y|DSE_ENST00000537543.1_Missense_Mutation_p.H622Y			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	603					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	p.H603Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AGATGGTGTCCATGGGGCTTT	0.488000													16	14					0	0	0.000422831	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24979684	24979684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:24979684G>A	ENST00000289968.6	-	6	518	c.449C>T	c.(448-450)tCa>tTa	p.S150L	ARHGAP17_ENST00000441763.2_Missense_Mutation_p.S150L|ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.S150L	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	150	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGCTCTGACTGAATCCCAGTC	0.493000													25	50					0	0	0.00178596	0	0
KRT26	353288	broad.mit.edu	37	17	38928098	38928098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:38928098G>A	ENST00000335552.4	-	1	316	c.268C>T	c.(268-270)Ctc>Ttc	p.L90F		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	90	Coil 1A.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CGGTCGTTGAGATTCTGCATG	0.547000													26	79					0	0	0.00178596	0	0
LRRC7	57554	broad.mit.edu	37	1	70505081	70505081	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:70505081C>T	ENST00000310961.5	+	22	3893	c.3475C>T	c.(3475-3477)Cgc>Tgc	p.R1159C	LRRC7_ENST00000415775.2_Missense_Mutation_p.R438C|LRRC7_ENST00000035383.5_Missense_Mutation_p.R1154C			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1154						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGGGCTGGATCGCCAAAGCAG	0.527000													31	71					0	0	0.00058488	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064625	78064625	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:78064625G>A	ENST00000299642.4	+	3	593	c.508G>A	c.(508-510)Ggt>Agt	p.G170S	CLEC3A_ENST00000565808.1_3'UTR|RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Missense_Mutation_p.G161S	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	161	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						ACAGCCTAACGGTGGCAAGCG	0.527000													21	48					0	0	0.00229938	0	0
SHOX2	6474	broad.mit.edu	37	3	157816015	157816015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:157816015G>A	ENST00000490689.2	-	5	1907	c.374C>T	c.(373-375)cCg>cTg	p.P125L	SHOX2_ENST00000483851.2_Missense_Mutation_p.P254L|SHOX2_ENST00000441443.2_Missense_Mutation_p.P125L|SHOX2_ENST00000389589.4_Missense_Mutation_p.P290L|SHOX2_ENST00000425436.3_Missense_Mutation_p.P266L			O60902	SHOX2_HUMAN	short stature homeobox 2	266				E -> D (in Ref. 1; CAA05341).	nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GGCCAGGTGCGGATGCAGGTG	0.672000													36	63					0	0	0.00283554	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887686	12887686	+	Silent	SNP	T	T	C	rs59802947	by1000genomes	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:12887686T>C	ENST00000535591.1	-	3	366	c.171A>G	c.(169-171)agA>agG	p.R57R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	57								p.R57R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGTTTCCATCTCCTGTGGG	0.468000													11	437					0	0	0.00229938	0	0
KLHL4	56062	broad.mit.edu	37	X	86773011	86773011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:86773011G>A	ENST00000373119.4	+	1	260	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	KLHL4_ENST00000373114.4_Missense_Mutation_p.E39K	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	39						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TCTTCAGCAGGAAGGATATGA	0.498000													20	19					0	0	0.00121646	0	0
ASB10	136371	broad.mit.edu	37	7	150883911	150883911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:150883911G>A	ENST00000422024.1	-	1	567	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	ASB10_ENST00000275838.1_Missense_Mutation_p.R103C|ASB10_ENST00000420175.2_Missense_Mutation_p.R103C|ASB10_ENST00000434669.1_Missense_Mutation_p.R148C|ASB10_ENST00000377867.3_Intron	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	103					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCAGAGCACGGATGTTGAAG	0.632000													8	16					0	0	0.000274275	0	0
TRIM36	55521	broad.mit.edu	37	5	114466515	114466515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:114466515G>A	ENST00000513154.1	-	9	1896	c.1570C>T	c.(1570-1572)Cgt>Tgt	p.R524C	TRIM36_ENST00000514154.1_Missense_Mutation_p.R381C|TRIM36_ENST00000282369.3_Missense_Mutation_p.R536C			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	536	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CTCTCTACACGGTCTCTCTTC	0.398000													41	31					0	0	0.00222228	0	0
PTH1R	5745	broad.mit.edu	37	3	46944973	46944973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:46944973C>T	ENST00000449590.1	+	16	1812	c.1609C>T	c.(1609-1611)Cat>Tat	p.H537Y	PTH1R_ENST00000430002.2_Missense_Mutation_p.H537Y|PTH1R_ENST00000313049.5_Missense_Mutation_p.H537Y|PTH1R_ENST00000418619.1_Missense_Mutation_p.H537Y	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	537						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						GCTGCCTGGCCATGCCAAGCC	0.677000													25	76					0	0	0.00047179	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107450509	107450509	+	Missense_Mutation	SNP	G	G	A	rs138821621		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:107450509G>A	ENST00000409382.3	-	3	1647	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S346L|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S346L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	346					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.S346L(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCTTACCTGCGAATTAATGAT	0.393000													87	79					0	0	0.000781405	0	0
MAST1	22983	broad.mit.edu	37	19	12981851	12981851	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:12981851G>A	ENST00000251472.4	+	24	3167	c.3126_splice	c.e24-1	p.S1043_splice		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	1043	PDZ.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TTCCCCCAGAGTGGCAACAAG	0.592000													47	63					0	0	0.000781405	0	0
MRPL20	55052	broad.mit.edu	37	1	1341166	1341166	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:1341166G>T	ENST00000482352.1	-	3	371	c.299C>A	c.(298-300)cCa>cAa	p.P100Q	MRPL20_ENST00000493287.1_Intron|MRPL20_ENST00000344843.7_Intron			Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	0							protein binding|rRNA binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GAATTTCAGTGGGACCCACAT	0.512000													8	234					0.000442599	0.00162127	0.000442599	1	0
FCGR1B	2210	broad.mit.edu	37	1	120930086	120930086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:120930086C>T	ENST00000369384.4	-	4	557	c.515G>A	c.(514-516)gGa>gAa	p.G172E	RP11-439A17.10_ENST00000426275.1_RNA|RP11-439A17.9_ENST00000457996.1_RNA|FCGR1B_ENST00000472543.1_5'UTR|FCGR1B_ENST00000369383.4_Missense_Mutation_p.G80E	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)	172	Ig-like C2-type 2.				interferon-gamma-mediated signaling pathway	integral to membrane|plasma membrane	IgG binding|immunoglobulin receptor activity			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		GCGATGCTTTCCCATGCCTGA	0.433000													30	191					0	0	0.0025221	0	0
XPO6	23214	broad.mit.edu	37	16	28113227	28113227	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:28113227A>T	ENST00000304658.5	-	22	3486	c.2986T>A	c.(2986-2988)Ttt>Att	p.F996I	XPO6_ENST00000565698.1_Missense_Mutation_p.F982I	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	996					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TTTTGTTTAAAAAGGTGGATG	0.468000													15	43					0	0	0.000422831	0	0
VSTM2A	222008	broad.mit.edu	37	7	54612448	54612448	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:54612448C>T	ENST00000302287.3	+	2	619	c.213C>T	c.(211-213)gaC>gaT	p.D71D	VSTM2A_ENST00000407838.3_Silent_p.D71D|VSTM2A_ENST00000402026.2_Silent_p.D70D|VSTM2A_ENST00000402613.3_Silent_p.D71D|VSTM2A_ENST00000404951.1_Silent_p.D71D			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	71	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GGCCGGAGGACCTGGATCCCG	0.731000													11	29					0	0	0.00185496	0	0
PRSS36	146547	broad.mit.edu	37	16	31157129	31157129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:31157129C>T	ENST00000268281.4	-	6	759	c.701G>A	c.(700-702)gGc>gAc	p.G234D	PRSS36_ENST00000418068.2_Missense_Mutation_p.G234D|PRSS36_ENST00000569305.1_Missense_Mutation_p.G234D	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	234	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GTCCCTGCGGCCCTCTGGGTA	0.607000													44	37					0	0	0.000680045	0	0
COL5A1	1289	broad.mit.edu	37	9	137653774	137653774	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:137653774G>A	ENST00000371817.3	+	19	2353	c.1939G>A	c.(1939-1941)Gac>Aac	p.D647N		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	647	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTCCTAGGGTGACCCTGGTCC	0.567000													34	55					0	0	0.00170553	0	0
C4orf22	255119	broad.mit.edu	37	4	81866028	81866028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:81866028G>A	ENST00000358105.3	+	5	590	c.541G>A	c.(541-543)Gat>Aat	p.D181N	C4orf22_ENST00000508675.1_Missense_Mutation_p.D198N	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	181										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						AGTGATTGCCGATAATCCAGA	0.323000													25	21					0	0	0.000878237	0	0
NTRK3	4916	broad.mit.edu	37	15	88476406	88476406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:88476406C>T	ENST00000394480.1	-	16	2047	c.1726G>A	c.(1726-1728)Gat>Aat	p.D576N	NTRK3_ENST00000357724.2_Missense_Mutation_p.D568N|NTRK3_ENST00000542733.2_Missense_Mutation_p.D478N|NTRK3_ENST00000355254.2_Missense_Mutation_p.D576N|NTRK3_ENST00000557856.1_Missense_Mutation_p.D568N|NTRK3_ENST00000360948.2_Missense_Mutation_p.D576N|NTRK3_ENST00000558676.1_Missense_Mutation_p.D568N	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	576	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.D576N(2)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGGGTGGGATCCTTCAGGGCC	0.562000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			20	7					0	0	0.00047179	0	0
PAGE3	139793	broad.mit.edu	37	X	55287011	55287011	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:55287011C>T	ENST00000374951.1	-	4	583	c.275G>A	c.(274-276)gGa>gAa	p.G92E	PAGE3_ENST00000519203.1_Missense_Mutation_p.G92E					P antigen family, member 3 (prostate associated)											endometrium(1)|kidney(1)|lung(1)	3						CAGAAATTCTCCCTTGACATT	0.393000													8	10					0	0	0.000673444	0	0
ACACA	31	broad.mit.edu	37	17	35548085	35548085	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:35548085G>A	ENST00000353139.5	-	38	5029	c.4548C>T	c.(4546-4548)ccC>ccT	p.P1516P	ACACA_ENST00000394406.2_Silent_p.P1479P|ACACA_ENST00000335166.5_Silent_p.P1401P|ACACA_ENST00000360679.3_Silent_p.P1421P	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1479					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGATAACCGTGGGCACAAAGT	0.453000													14	49					0	0	0.000308642	0	0
LIN7A	8825	broad.mit.edu	37	12	81239607	81239607	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:81239607T>A	ENST00000552864.1	-	4	587	c.385A>T	c.(385-387)Aat>Tat	p.N129Y		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	129	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						ATGGGGGAATTTTGCTCCTTT	0.498000													15	46					0	0	0.000308642	0	0
ZNF92	168374	broad.mit.edu	37	7	64864337	64864337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:64864337C>T	ENST00000328747.7	+	4	1509	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F	ZNF92_ENST00000357512.2_Missense_Mutation_p.S405F|ZNF92_ENST00000450302.2_Missense_Mutation_p.S368F|ZNF92_ENST00000431504.1_Missense_Mutation_p.S361F	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	437						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				TTTAGCTGGTCCTCAGCTTTT	0.363000													13	16					0	0	0.00185496	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961340	73961340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:73961340C>T	ENST00000373468.1	-	3	3703	c.3052G>A	c.(3052-3054)Ggc>Agc	p.G1018S	KIAA2022_ENST00000055682.5_Missense_Mutation_p.G1018S			Q5QGS0	K2022_HUMAN	KIAA2022	1018					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCATCATCGCCATCCTTTTCA	0.463000													23	2					0	0	0.00229938	0	0
RBM38	55544	broad.mit.edu	37	20	55982684	55982684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:55982684C>T	ENST00000356208.5	+	4	677	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	RBM38_ENST00000440234.2_3'UTR|RBM38_ENST00000371219.2_Missense_Mutation_p.P87S	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	168					3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			GCTGTCCTCGCCCTACATTGA	0.682000													12	36					0	0	0.00185496	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813867	106813867	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:106813867G>A	ENST00000407775.2	+	8	1807	c.1557G>A	c.(1555-1557)aaG>aaA	p.K519K	ZFPM2_ENST00000520492.1_Silent_p.K387K|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.K250K|ZFPM2_ENST00000517361.1_Silent_p.K387K|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	519					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCTTAGCTAAGATGTCTGAAC	0.498000													19	72					0	0	0.000958276	0	0
NPAP1	23742	broad.mit.edu	37	15	24922679	24922679	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:24922679C>T	ENST00000329468.2	+	1	2139	c.1665C>T	c.(1663-1665)tcC>tcT	p.S555S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.S555S(1)									CAGTCATTTCCACTGTCACAA	0.488000													27	68					0	0	0.000878237	0	0
PSD2	84249	broad.mit.edu	37	5	139193033	139193033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:139193033G>A	ENST00000274710.3	+	3	716	c.511G>A	c.(511-513)Gac>Aac	p.D171N		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	171					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGAGAGCGACAGCTGCGT	0.657000													15	39					0	0	0.000308642	0	0
ASAH2	56624	broad.mit.edu	37	10	51974591	51974591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:51974591C>T	ENST00000395526.3	-	8	1051	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E	ASAH2_ENST00000443575.1_Missense_Mutation_p.G193E|ASAH2_ENST00000329428.6_Missense_Mutation_p.G332E|ASAH2_ENST00000447815.1_Missense_Mutation_p.G351E	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	351					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						GGACACATCTCCTAGGTTTGA	0.448000													11	1					0	0	0.00136819	0	0
CACNA1G	8913	broad.mit.edu	37	17	48650027	48650027	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:48650027A>C	ENST00000352832.5	+	6	1231	c.859A>C	c.(859-861)Acg>Ccg	p.T287P	CACNA1G_ENST00000515411.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000505165.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000515765.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000359106.5_Missense_Mutation_p.T287P|CACNA1G_ENST00000514717.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000503485.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000507510.2_Missense_Mutation_p.T287P|CACNA1G_ENST00000515165.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000514181.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000502264.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000513964.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000507336.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000360761.4_Missense_Mutation_p.T287P|CACNA1G_ENST00000510366.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000512389.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000442258.2_Missense_Mutation_p.T287P|CACNA1G_ENST00000416767.4_Missense_Mutation_p.T287P|CACNA1G_ENST00000507609.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000513689.2_Missense_Mutation_p.T287P|CACNA1G_ENST00000507896.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000510115.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000358244.5_Missense_Mutation_p.T287P|CACNA1G_ENST00000354983.4_Missense_Mutation_p.T287P|CACNA1G_ENST00000514079.1_Missense_Mutation_p.T287P|CACNA1G_ENST00000429973.2_Missense_Mutation_p.T287P	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	287					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AAGCGTGCCCACGCTGCGCGG	0.622000													3	10					0	0	6.4e-05	0	0
NBAS	51594	broad.mit.edu	37	2	15614280	15614280	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:15614280G>A	ENST00000281513.5	-	15	1535	c.1510C>T	c.(1510-1512)Cca>Tca	p.P504S	NBAS_ENST00000441750.1_Missense_Mutation_p.P504S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	504										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTCCGTGGTGGTGCAAATCGC	0.453000													52	59					0	0	0.000781405	0	0
PLXNA2	5362	broad.mit.edu	37	1	208315790	208315790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:208315790G>A	ENST00000367033.3	-	4	2147	c.1390C>T	c.(1390-1392)Ccc>Tcc	p.P464S		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	464	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCACCATGGGGGGGACCGTCG	0.597000													35	124					0	0	0.00170553	0	0
GDF3	9573	broad.mit.edu	37	12	7842921	7842921	+	Silent	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:7842921A>G	ENST00000329913.3	-	2	695	c.648T>C	c.(646-648)ttT>ttC	p.F216F		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	216					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CTTCAGGCTGAAAATTCACCC	0.493000													16	47					0	0	0.000422831	0	0
ALPK2	115701	broad.mit.edu	37	18	56246784	56246784	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:56246784T>G	ENST00000361673.3	-	4	1437	c.1224A>C	c.(1222-1224)caA>caC	p.Q408H		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	408							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCCCAACTTCTTGGGGTTGTG	0.562000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	50					0	0	0.000442599	0	0
TRIP13	9319	broad.mit.edu	37	5	900650	900650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:900650G>A	ENST00000166345.3	+	4	786	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	144					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			ATACGATGTGGAAGTCAAATC	0.458000													35	22					0	0	0.00111076	0	0
FAM155B	27112	broad.mit.edu	37	X	68748926	68748926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:68748926G>A	ENST00000252338.4	+	2	994	c.952G>A	c.(952-954)Gag>Aag	p.E318K		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	318						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						ATACTGCCTGGAGGTGCAGAC	0.587000													10	15					0	0	0.000978159	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77510080	77510080	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:77510080G>A	ENST00000477717.1	+	3	688	c.453G>A	c.(451-453)agG>agA	p.R151R		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	151					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GCATCCAGAGGATCCTCCGCA	0.642000													32	34					0	0	0.001512	0	0
MROH7	374977	broad.mit.edu	37	1	55166875	55166875	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:55166875G>A	ENST00000414150.2	+	19	3443	c.3165G>A	c.(3163-3165)ggG>ggA	p.G1055G	MROH7_ENST00000409996.1_Silent_p.G623G|MROH7_ENST00000454855.2_Silent_p.G573G|MROH7_ENST00000421030.2_Silent_p.G1055G					maestro heat-like repeat family member 7																		ACATGGATGGGATGCTGGTGG	0.592000													32	34					0	0	0.00058488	0	0
CHD7	55636	broad.mit.edu	37	8	61735282	61735282	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:61735282G>A	ENST00000423902.2	+	12	3657	c.3178G>A	c.(3178-3180)Gaa>Aaa	p.E1060K	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.E1060K	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1060	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCAGTTGTATGAAATGTACTT	0.418000													28	55					0	0	0.001512	0	0
ZNF202	7753	broad.mit.edu	37	11	123597480	123597480	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:123597480G>A	ENST00000336139.4	-	8	1534	c.1172C>T	c.(1171-1173)cCc>cTc	p.P391L	ZNF202_ENST00000529691.1_Missense_Mutation_p.P391L|ZNF202_ENST00000530393.1_Missense_Mutation_p.P391L			O95125	ZN202_HUMAN	zinc finger protein 202	391					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CCCTAACAGGGGGTGGACGGG	0.448000													28	20					0	0	0.000720815	0	0
SP140L	93349	broad.mit.edu	37	2	231249953	231249953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:231249953G>A	ENST00000243810.6	+	9	718	c.718G>A	c.(718-720)Gat>Aat	p.D240N	SP140L_ENST00000396563.4_Missense_Mutation_p.D240N|SP140L_ENST00000444636.1_Missense_Mutation_p.D240N|SP140L_ENST00000415673.2_Missense_Mutation_p.D240N			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	240						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CAGCAAAGCCGATGGCCAGCT	0.468000													19	52					0	0	0.00047179	0	0
KRT32	3882	broad.mit.edu	37	17	39623238	39623238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:39623238C>T	ENST00000225899.3	-	1	443	c.340G>A	c.(340-342)Gtg>Atg	p.V114M		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	114	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				AGCTGCCGCACCCTCGTCAGG	0.592000													44	78					0	0	0.000781405	0	0
TEX26	122046	broad.mit.edu	37	13	31540496	31540496	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:31540496G>A	ENST00000380473.3	+	5	620	c.607G>A	c.(607-609)Gga>Aga	p.G203R	TEX26_ENST00000530916.1_Intron	NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	203																	TTTCAAATATGGATGCTACTC	0.368000													23	56					0	0	0.000586117	0	0
MAEL	84944	broad.mit.edu	37	1	166963267	166963267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:166963267G>A	ENST00000367872.4	+	5	728	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.E131K	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	162					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TATTATAGGTGAAATTCCACG	0.348000													7	36					0	0	0.000274275	0	0
SCGN	10590	broad.mit.edu	37	6	25689431	25689431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:25689431C>T	ENST00000377961.2	+	8	727	c.559C>T	c.(559-561)Caa>Taa	p.Q187*	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	187						extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CTTCCTTCTCCAATTTAAAAT	0.368000													17	68					0	0	0.000958276	0	0
KCNA5	3741	broad.mit.edu	37	12	5154222	5154222	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:5154222C>T	ENST00000252321.3	+	1	1138	c.909C>T	c.(907-909)gtC>gtT	p.V303V		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	303						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GCAGCGGGGTCATGGCCCCGC	0.706000													40	25					0	0	0.00111076	0	0
FBXO41	150726	broad.mit.edu	37	2	73491469	73491469	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:73491469G>A	ENST00000521871.1	-	6	2158	c.1743C>T	c.(1741-1743)ttC>ttT	p.F581F	FBXO41_ENST00000520530.2_Silent_p.F581F|FBXO41_ENST00000295133.5_Silent_p.F642F			Q8TF61	FBX41_HUMAN	F-box protein 41	581						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GGCGGGCCACGAAGCGCCAGT	0.632000													43	59					0	0	0.00285205	0	0
TRIML1	339976	broad.mit.edu	37	4	189060977	189060977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:189060977G>A	ENST00000332517.3	+	1	405	c.265G>A	c.(265-267)Gag>Aag	p.E89K		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	89					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GCTGCAGAGCGAGGATGAGCA	0.662000													23	13					0	0	0.00229938	0	0
HEPHL1	341208	broad.mit.edu	37	11	93826760	93826760	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:93826760G>A	ENST00000315765.9	+	13	2396	c.2388G>A	c.(2386-2388)gtG>gtA	p.V796V		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	796	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GAGAATTTGTGGAGATCAAAG	0.478000													33	36					0	0	0.00209593	0	0
CAPN5	726	broad.mit.edu	37	11	76823638	76823638	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:76823638A>T	ENST00000278559.3	+	4	490	c.301A>T	c.(301-303)Atc>Ttc	p.I101F	CAPN5_ENST00000456580.2_Missense_Mutation_p.I141F|CAPN5_ENST00000529629.1_Missense_Mutation_p.I101F|CAPN5_ENST00000531028.1_Intron	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	101	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						TACCCAGGTCATCCCAGACTG	0.612000													8	16					0	0	0.000673444	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237415	140237415	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140237415C>T	ENST00000307360.5	+	1	1782	c.1782C>T	c.(1780-1782)cgC>cgT	p.R594R	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAAGGTGCGCGCAGTGGACG	0.672000													14	23					0	0	0.00185496	0	0
PCNT	5116	broad.mit.edu	37	21	47831639	47831639	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:47831639G>A	ENST00000359568.5	+	28	5759	c.5652G>A	c.(5650-5652)aaG>aaA	p.K1884K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1884					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCAGCGGAAGGCGGCCCACT	0.667000													10	40					0	0	0.000978159	0	0
FBXO36	130888	broad.mit.edu	37	2	230875502	230875502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:230875502G>A	ENST00000373652.3	+	5	797	c.376G>A	c.(376-378)Ggc>Agc	p.G126S	FBXO36_ENST00000409992.1_Missense_Mutation_p.G137S|FBXO36_ENST00000283946.3_Missense_Mutation_p.G157S			Q8NEA4	FBX36_HUMAN	F-box protein 36	157	F-box.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGAGGACACAGGCTGGAGACA	0.547000													16	39					0	0	0.000566183	0	0
PBX1	5087	broad.mit.edu	37	1	164532502	164532502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:164532502G>A	ENST00000420696.2	+	2	407	c.219G>A	c.(217-219)atG>atA	p.M73I	PBX1_ENST00000367897.1_Missense_Mutation_p.M73I|PBX1_ENST00000559240.1_Missense_Mutation_p.M73I|PBX1_ENST00000401534.1_Missense_Mutation_p.M73I|PBX1_ENST00000540236.1_Missense_Mutation_p.M73I	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	73					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GCCACAGAATGAAGCCTGCCT	0.368000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								22	120					0	0	0.00278032	0	0
C14orf39	317761	broad.mit.edu	37	14	60903654	60903654	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:60903654G>A	ENST00000321731.3	-	18	1832	c.1673C>T	c.(1672-1674)tCa>tTa	p.S558L		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	558										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CTGTCCAAATGAAAATGGAAA	0.338000													65	209					0	0	0.000781405	0	0
RIMS1	22999	broad.mit.edu	37	6	72957726	72957726	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:72957726T>C	ENST00000264839.7	+	12	2137	c.2137T>C	c.(2137-2139)Tcc>Ccc	p.S713P	RIMS1_ENST00000425662.2_Missense_Mutation_p.S106P|RIMS1_ENST00000517960.1_Missense_Mutation_p.S713P|RIMS1_ENST00000517827.1_Missense_Mutation_p.S172P|RIMS1_ENST00000491071.2_Missense_Mutation_p.S713P|RIMS1_ENST00000518273.1_Missense_Mutation_p.S713P|RIMS1_ENST00000522291.1_Missense_Mutation_p.S713P|RIMS1_ENST00000348717.5_Missense_Mutation_p.S713P|RIMS1_ENST00000401910.3_Missense_Mutation_p.S187P|RIMS1_ENST00000521978.1_Missense_Mutation_p.S713P|RIMS1_ENST00000523963.1_Missense_Mutation_p.S187P|RIMS1_ENST00000520567.1_Missense_Mutation_p.S713P			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	713					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGGTTCAAGTTCCTTTGAATC	0.328000													15	21					0	0	0.000422831	0	0
SLC2A7	155184	broad.mit.edu	37	1	9083116	9083116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:9083116C>T	ENST00000400906.1	-	3	171	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	58						integral to membrane|plasma membrane	sugar transmembrane transporter activity	p.E58K(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AAGTAGGTTTCGTTGTAAAAT	0.483000													70	93					0	0	0.000781405	0	0
ATCAY	85300	broad.mit.edu	37	19	3909546	3909546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:3909546G>A	ENST00000450849.2	+	7	1177	c.710G>A	c.(709-711)gGt>gAt	p.G237D	ATCAY_ENST00000600960.1_Missense_Mutation_p.G237D|ATCAY_ENST00000398448.3_Missense_Mutation_p.G243D|ATCAY_ENST00000301260.6_Missense_Mutation_p.G237D	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	237	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		TACCTGAACGGTGCCACGCCC	0.602000													9	29					0	0	0.000673444	0	0
DNAH5	1767	broad.mit.edu	37	5	13928280	13928280	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:13928280C>T	ENST00000265104.4	-	3	304	c.200G>A	c.(199-201)aGa>aAa	p.R67K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	67	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R67I(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGATCAATTCTTTCAATCTG	0.318000									Kartagener syndrome				12	42					0	0	0.00185496	0	0
GJA3	2700	broad.mit.edu	37	13	20716813	20716813	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:20716813G>A	ENST00000241125.3	-	2	791	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	205					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		CCAGCATGAAGATGATGAAGA	0.632000													17	25					0	0	0.000566183	0	0
DENND1C	79958	broad.mit.edu	37	19	6468914	6468914	+	Silent	SNP	G	G	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:6468914G>T	ENST00000381480.2	-	20	1570	c.1458C>A	c.(1456-1458)ctC>ctA	p.L486L	DENND1C_ENST00000543576.1_Silent_p.L442L	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	486						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						AGCGGCTGGGGAGGGCTGGGG	0.622000													18	38					5.35356e-11	1.97273e-10	0.00278032	1	0
SELRC1	65260	broad.mit.edu	37	1	53153604	53153604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:53153604G>A	ENST00000371538.3	-	3	523	c.484C>T	c.(484-486)Cca>Tca	p.P162S	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2	Q96BR5	SELR1_HUMAN	Sel1 repeat containing 1	162							binding			breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						GGAAAGCCTGGGGCACCCTGC	0.542000													55	40					0	0	0.000781405	0	0
ASB6	140459	broad.mit.edu	37	9	132402973	132402973	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:132402973G>A	ENST00000277458.4	-	2	307	c.142C>T	c.(142-144)Cga>Tga	p.R48*	RP11-483H20.4_ENST00000455074.1_RNA|ASB6_ENST00000277459.4_Nonsense_Mutation_p.R48*|ASB6_ENST00000450050.2_Intron	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	48					intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				ACAAGGATTCGGCTCTCCTCG	0.622000													22	24					0	0	0.00229938	0	0
PRSS1	5644	broad.mit.edu	37	7	142459713	142459713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:142459713C>T	ENST00000486171.1	+	4	348	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S	PRSS1_ENST00000311737.7_Missense_Mutation_p.P97S			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	97	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CATCCGCCACCCCCAATACGA	0.542000													112	53					0	0	0.000781405	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144852383	144852383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:144852383G>A	ENST00000369356.4	-	44	7350	c.7060C>T	c.(7060-7062)Ccc>Tcc	p.P2354S	PDE4DIP_ENST00000530740.1_3'UTR|PDE4DIP_ENST00000313382.9_3'UTR|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_3'UTR|PDE4DIP_ENST00000369354.3_3'UTR	NM_001198834.2|NM_014644.4	NP_001185763.2|NP_055459.4	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)		ACAAAAGGGGGACAGGCCCAC	0.557000			T	PDGFRB	MPD								13	56					0	0	0.00185496	0	0
ZADH2	284273	broad.mit.edu	37	18	72913569	72913569	+	Nonsense_Mutation	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:72913569A>C	ENST00000322342.3	-	2	1225	c.936T>G	c.(934-936)taT>taG	p.Y312*	ZADH2_ENST00000537114.2_Nonsense_Mutation_p.Y189*	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	312						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		TGGCTGCTTGATACTTAGAAA	0.527000													13	55					0	0	0.00185496	0	0
DARC	2532	broad.mit.edu	37	1	159175916	159175916	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:159175916G>A	ENST00000537147.1	+	3	1530	c.687G>A	c.(685-687)aaG>aaA	p.K229K	DARC_ENST00000368122.2_Silent_p.K229K|DARC_ENST00000368121.2_Silent_p.K231K			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	229					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TTGGAGCCAAGGGGCTGAAGA	0.542000													19	74					0	0	0.00229938	0	0
TESK2	10420	broad.mit.edu	37	1	45820995	45820995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:45820995G>A	ENST00000372086.3	-	5	920	c.520C>T	c.(520-522)Cat>Tat	p.H174Y	TESK2_ENST00000538496.1_Missense_Mutation_p.H91Y|TESK2_ENST00000372084.1_Missense_Mutation_p.H174Y|TESK2_ENST00000341771.6_Missense_Mutation_p.H174Y|TESK2_ENST00000486676.1_5'UTR	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	174	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					AGGTCCCGATGAAAAATGCCT	0.443000													11	35					0	0	0.000978159	0	0
BEST2	54831	broad.mit.edu	37	19	12866691	12866691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:12866691C>T	ENST00000549706.1	+	8	1214	c.890C>T	c.(889-891)cCc>cTc	p.P297L	BEST2_ENST00000553030.1_Missense_Mutation_p.P297L|BEST2_ENST00000042931.1_Missense_Mutation_p.P297L			Q8NFU1	BEST2_HUMAN	bestrophin 2	297					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CTCATCAACCCCTTCGGAGAG	0.537000													14	61					0	0	0.00074312	0	0
TFPI	7035	broad.mit.edu	37	2	188332640	188332640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:188332640C>T	ENST00000233156.3	-	7	942	c.648G>A	c.(646-648)tgG>tgA	p.W216*	TFPI_ENST00000392365.1_Nonsense_Mutation_p.W216*|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	216					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	GAGTGAGACACCATGAGGGAC	0.393000													10	29					0	0	0.000442599	0	0
TMEM132D	121256	broad.mit.edu	37	12	129569296	129569296	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:129569296C>T	ENST00000389441.4	-	1	1249	c.9G>A	c.(7-9)cgG>cgA	p.R3R	TMEM132D_ENST00000422113.2_Intron			Q14C87	T132D_HUMAN	transmembrane protein 132D	0						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)		AGCTTTCATCCCGTTGCATGG	0.532000													4	5					0	0	0.00024832	0	0
SP140L	93349	broad.mit.edu	37	2	231267534	231267534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:231267534G>A	ENST00000415673.2	+	19	1752	c.1666G>A	c.(1666-1668)Gga>Aga	p.G556R	SP140L_ENST00000396563.4_3'UTR|SP140L_ENST00000243810.6_3'UTR	NM_138402.4	NP_612411.4	Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	0						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TGGCCAAATGGGACTTAGACT	0.378000													16	78					0	0	0.000422831	0	0
VWF	7450	broad.mit.edu	37	12	6094283	6094283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:6094283G>A	ENST00000261405.5	-	40	7158	c.6904C>T	c.(6904-6906)Ccc>Tcc	p.P2302S		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2302	VWFC 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCACACGTGGGAGCTAGAGGA	0.542000													24	59					0	0	0.00278032	0	0
CACNA1G	8913	broad.mit.edu	37	17	48678454	48678454	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:48678454C>T	ENST00000352832.5	+	18	4137	c.3765C>T	c.(3763-3765)ttC>ttT	p.F1255F	CACNA1G_ENST00000515411.1_Silent_p.F1278F|CACNA1G_ENST00000505165.1_Silent_p.F1278F|CACNA1G_ENST00000515765.1_Silent_p.F1278F|CACNA1G_ENST00000359106.5_Silent_p.F1278F|CACNA1G_ENST00000514717.1_Silent_p.F1255F|CACNA1G_ENST00000503485.1_Silent_p.F1278F|CACNA1G_ENST00000507510.2_Silent_p.F1278F|CACNA1G_ENST00000515165.1_Silent_p.F1278F|CACNA1G_ENST00000514181.1_Silent_p.F1278F|CACNA1G_ENST00000502264.1_Silent_p.F1255F|CACNA1G_ENST00000513964.1_Silent_p.F1278F|CACNA1G_ENST00000507336.1_Silent_p.F1278F|CACNA1G_ENST00000360761.4_Silent_p.F1255F|CACNA1G_ENST00000510366.1_Silent_p.F1278F|CACNA1G_ENST00000512389.1_Silent_p.F1278F|CACNA1G_ENST00000442258.2_Silent_p.F1255F|CACNA1G_ENST00000416767.4_Silent_p.F1278F|CACNA1G_ENST00000507609.1_Silent_p.F1278F|CACNA1G_ENST00000513689.2_Silent_p.F1278F|CACNA1G_ENST00000507896.1_Silent_p.F1278F|CACNA1G_ENST00000510115.1_Silent_p.F1255F|CACNA1G_ENST00000358244.5_Silent_p.F1255F|CACNA1G_ENST00000354983.4_Silent_p.F1255F|CACNA1G_ENST00000514079.1_Silent_p.F1278F|CACNA1G_ENST00000429973.2_Silent_p.F1278F	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1278					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACAAGATGTTCGACCACGTGG	0.607000													30	77					0	0	0.0024448	0	0
VIPAS39	63894	broad.mit.edu	37	14	77919703	77919703	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:77919703G>A	ENST00000553888.1	-	3	645	c.135C>T	c.(133-135)ttC>ttT	p.F45F	VIPAS39_ENST00000448935.2_Silent_p.F45F|VIPAS39_ENST00000343765.2_Silent_p.F45F|VIPAS39_ENST00000556412.1_Silent_p.F71F|VIPAS39_ENST00000557658.1_Silent_p.F45F|VIPAS39_ENST00000327028.4_Silent_p.F45F	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		CATCATCCACGAAGTCTCGGA	0.537000													93	285					0	0	0.000781405	0	0
MUC5AC	4586	broad.mit.edu	37	11	1156647	1156647	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:1156647G>A	ENST00000356191.2	+	10	656	c.656G>A	c.(655-657)cGa>cAa	p.R219Q						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CGTGGTCAGCGAGCTCCTCTC	0.607000													23	26					0	0	0.00047179	0	0
CCDC147	159686	broad.mit.edu	37	10	106118293	106118293	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:106118293T>A	ENST00000369704.3	+	2	338	c.204T>A	c.(202-204)aaT>aaA	p.N68K	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	68										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAGAGCTAAATGCAGAGATTG	0.433000													11	18					0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179417696	179417696	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179417696C>T	ENST00000589042.1	-	335	90155	c.89931G>A	c.(89929-89931)aaG>aaA	p.K29977K	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.K28336K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.K21037K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.K21104K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.K27409K|TTN_ENST00000460472.2_Silent_p.K20912K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28336	Ig-like 136.						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)			ACCATGTTCTCTTGGTGGCAT	0.418000													18	21					0	0	0.000958276	0	0
GPR128	84873	broad.mit.edu	37	3	100368606	100368606	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:100368606C>T	ENST00000273352.3	+	11	1602	c.1334C>T	c.(1333-1335)tCt>tTt	p.S445F	GPR128_ENST00000475887.1_Missense_Mutation_p.S150F	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	445					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TGTGCACTGTCTGTTACTGGT	0.348000													35	24					0	0	0.00195071	0	0
IGF2R	3482	broad.mit.edu	37	6	160471586	160471586	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:160471586C>T	ENST00000356956.1	+	19	2744	c.2596C>T	c.(2596-2598)Ctt>Ttt	p.L866F		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	866					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CGGCAGCCTCCTTCTGGAATA	0.567000													23	22					0	0	0.000586117	0	0
EPS8L2	64787	broad.mit.edu	37	11	722701	722701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:722701C>T	ENST00000533256.1	+	15	1612	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	EPS8L2_ENST00000530636.1_Missense_Mutation_p.P413S|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Missense_Mutation_p.P413S|EPS8L2_ENST00000526198.1_Missense_Mutation_p.P429S			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	413						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCACAGGTGCCCCTCTACGT	0.692000													5	9					0	0	0.000602214	0	0
ITGAE	3682	broad.mit.edu	37	17	3643113	3643113	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:3643113G>A	ENST00000263087.4	-	20	2606	c.2508C>T	c.(2506-2508)gcC>gcT	p.A836A		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	836					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AGACGGTGGTGGCCAACTGTA	0.537000													44	6					0	0	0.000781405	0	0
ZNF831	128611	broad.mit.edu	37	20	57766491	57766491	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:57766491G>A	ENST00000371030.2	+	1	417	c.417G>A	c.(415-417)cgG>cgA	p.R139R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	139						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)					GCAAGGTGCGGAATGCGGGCA	0.672000													57	30					0	0	0.000781405	0	0
ALMS1	7840	broad.mit.edu	37	2	73677368	73677368	+	Silent	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:73677368T>C	ENST00000264448.6	+	8	3822	c.3711T>C	c.(3709-3711)tcT>tcC	p.S1237S	ALMS1_ENST00000377715.1_Silent_p.S1237S|ALMS1_ENST00000409009.1_Silent_p.S1195S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1237	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCTCTGCTTCTTACTCACACA	0.478000													34	41					0	0	0.00209593	0	0
OR10C1	442194	broad.mit.edu	37	6	29408455	29408455	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:29408455C>T	ENST00000444197.2	+	1	1373	c.663C>T	c.(661-663)ctC>ctT	p.L221L	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCGTATCCTCGTTACCATCT	0.592000													70	113					0	0	0.000781405	0	0
POU2F3	25833	broad.mit.edu	37	11	120175796	120175796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:120175796C>T	ENST00000260264.4	+	7	542	c.508C>T	c.(508-510)Cag>Tag	p.Q170*	POU2F3_ENST00000543440.2_Nonsense_Mutation_p.Q168*	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	168					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GGAAGCATCCCAGCATCTCCC	0.567000													21	41					0	0	0.00152264	0	0
OR11H12	440153	broad.mit.edu	37	14	19378112	19378112	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:19378112C>T	ENST00000550708.1	+	1	591	c.519C>T	c.(517-519)atC>atT	p.I173I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGTTCCTGATCCCCATTGTTC	0.483000													15	149					0	0	0.000878237	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218946	134218946	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:134218946C>T	ENST00000305233.5	+	2	1001	c.942C>T	c.(940-942)ccC>ccT	p.P314P	PWWP2B_ENST00000368609.4_Silent_p.P314P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	314										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCTCCATCCCCAAGTTGAAAC	0.731000													6	33					0	0	0.00198382	0	0
TPRX1	284355	broad.mit.edu	37	19	48305217	48305217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:48305217G>A	ENST00000535759.1	-	4	1341	c.1342C>T	c.(1342-1344)Cct>Tct	p.P448S	TPRX1_ENST00000322175.3_Missense_Mutation_p.P351S|TPRX1_ENST00000543508.1_Missense_Mutation_p.P341S			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	351						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P351S(1)|p.P351T(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GTGAAGTGAGGGAATAACTGG	0.592000													41	62					0	0	0.0025221	0	0
EPB41	2035	broad.mit.edu	37	1	29338416	29338416	+	Missense_Mutation	SNP	C	C	T	rs144897337	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:29338416C>T	ENST00000343067.4	+	5	953	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	EPB41_ENST00000398863.2_Missense_Mutation_p.R276C|EPB41_ENST00000373797.1_Missense_Mutation_p.R276C|EPB41_ENST00000373798.1_Missense_Mutation_p.R276C|EPB41_ENST00000373800.3_Missense_Mutation_p.R67C|EPB41_ENST00000356093.2_Missense_Mutation_p.R276C|EPB41_ENST00000347529.3_Missense_Mutation_p.R241C|EPB41_ENST00000349460.4_Missense_Mutation_p.R67C	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	276	FERM.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AAAGCAGGTTCGTGGTAAGTG	0.393000													50	84					0	0	0.000781405	0	0
MKL1	57591	broad.mit.edu	37	22	40814646	40814646	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:40814646G>A	ENST00000396617.3	-	12	2386	c.1796C>T	c.(1795-1797)cCc>cTc	p.P599L	MKL1_ENST00000407029.1_Missense_Mutation_p.P599L|MKL1_ENST00000355630.3_Missense_Mutation_p.P599L|MKL1_ENST00000402042.1_Missense_Mutation_p.P549L			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	599	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CGCCAGGCTGGGGTTGAATGG	0.711000			T	RBM15	acute megakaryocytic leukemia								9	32					0	0	0.000978159	0	0
SCAND3	114821	broad.mit.edu	37	6	28543082	28543082	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:28543082C>T	ENST00000452236.2	-	3	2017	c.1400G>A	c.(1399-1401)tGc>tAc	p.C467Y		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	467	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTGGCTTTGGCAGGTCTGAGA	0.428000													7	32					0	0	0.00198382	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375879	113375879	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:113375879G>A	ENST00000316407.4	-	7	5060	c.4650C>T	c.(4648-4650)tcC>tcT	p.S1550S	KIAA2018_ENST00000478658.1_Silent_p.S1550S|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1550	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGCCAGTCTTGGATCGGGATT	0.498000													16	32					0	0	0.00152264	0	0
KIAA1109	84162	broad.mit.edu	37	4	123147970	123147970	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:123147970C>T	ENST00000264501.4	+	24	3275	c.2902C>T	c.(2902-2904)Cgt>Tgt	p.R968C	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R968C|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R968C			Q2LD37	K1109_HUMAN	KIAA1109	968					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGGAATTGATCGTCGGTTCTG	0.338000													36	34					0	0	0.000692331	0	0
PSD4	23550	broad.mit.edu	37	2	113940402	113940402	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:113940402G>A	ENST00000245796.6	+	2	564	c.369G>A	c.(367-369)agG>agA	p.R123R	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Silent_p.R123R	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	123					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGCCCAGAGGGAGCACAGGC	0.612000													11	45					0	0	0.00185496	0	0
TPTE	7179	broad.mit.edu	37	21	10920164	10920164	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:10920164C>T	ENST00000298232.7	-	18	1403	c.1035_splice	c.e18-1	p.E346_splice	TPTE_ENST00000361285.4_Splice_Site_p.E364_splice|TPTE_ENST00000342420.5_Splice_Site_p.E326_splice|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	364	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACAGGCTTTCCTACAAAAAA	0.378000													8	53					0	0	0.000157383	0	0
WARS	7453	broad.mit.edu	37	14	100820169	100820169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:100820169G>A	ENST00000355338.2	-	6	1198	c.580C>T	c.(580-582)Cag>Tag	p.Q194*	WARS_ENST00000557135.1_Nonsense_Mutation_p.Q194*|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000556645.1_Nonsense_Mutation_p.Q153*|WARS_ENST00000344102.5_Nonsense_Mutation_p.Q153*|WARS_ENST00000358655.4_Nonsense_Mutation_p.Q153*|WARS_ENST00000392882.2_Nonsense_Mutation_p.Q194*|WARS_ENST00000554084.1_5'UTR	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	194					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TCCGTCATCTGGATGACCAAG	0.537000													28	69					0	0	0.00178596	0	0
HCLS1	3059	broad.mit.edu	37	3	121351017	121351017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:121351017G>A	ENST00000314583.3	-	13	1346	c.1255C>T	c.(1255-1257)Ccg>Tcg	p.P419S	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.P382S	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	419					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		gccccagccGGGCAGCCTGAT	0.527000													12	28					0	0	0.00136819	0	0
GRHL3	57822	broad.mit.edu	37	1	24663621	24663621	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:24663621G>A	ENST00000361548.4	+	5	896	c.666G>A	c.(664-666)gaG>gaA	p.E222E	GRHL3_ENST00000342072.4_Silent_p.E129E|GRHL3_ENST00000356046.2_Silent_p.E176E|GRHL3_ENST00000236255.4_Silent_p.E227E|GRHL3_ENST00000350501.5_Silent_p.E222E	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	222					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CATGTCCAGAGGACTACCCCA	0.562000													11	33					0	0	0.00136819	0	0
GAMT	2593	broad.mit.edu	37	19	1397385	1397385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:1397385C>T	ENST00000252288.2	-	6	750	c.684G>A	c.(682-684)atG>atA	p.M228I		NM_000156.5	NP_000147.1	Q14353	GAMT_HUMAN	guanidinoacetate N-methyltransferase	228					creatine biosynthetic process|muscle contraction	cytosol	guanidinoacetate N-methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|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)	Creatine(DB00148)	GGGGCGTGATCATCTGTGGGA	0.701000													5	25					0	0	0.000602214	0	0
THSD7A	221981	broad.mit.edu	37	7	11676263	11676263	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:11676263G>A	ENST00000423059.3	-	2	767	c.516C>T	c.(514-516)atC>atT	p.I172I	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	172						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACTCACAGATGATATCCTCCG	0.498000										HNSCC(18;0.044)			32	53					0	0	0.00283554	0	0
FAT2	2196	broad.mit.edu	37	5	150946634	150946634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:150946634G>A	ENST00000261800.5	-	1	1871	c.1859C>T	c.(1858-1860)tCc>tTc	p.S620F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	620	Cadherin 5.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGTTTGAGGGATATCACTCC	0.418000													41	25					0	0	0.00148497	0	0
SAGE1	55511	broad.mit.edu	37	X	134994479	134994479	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:134994479G>A	ENST00000535938.1	+	19	2688		c.e19-1		SAGE1_ENST00000324447.3_Splice_Site|SAGE1_ENST00000370709.3_Splice_Site|SAGE1_ENST00000537770.1_Splice_Site	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1											breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AATATCTTCAGATTATGAAAG	0.313000													57	3					0	0	0.000781405	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48606153	48606153	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:48606153G>A	ENST00000323776.5	+	17	2796	c.2634G>A	c.(2632-2634)ggG>ggA	p.G878G	MYCBPAP_ENST00000436259.2_Silent_p.G841G	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	841					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AGCAACTGGGGATCAAAGACA	0.557000													24	14					0	0	0.000586117	0	0
IPCEF1	26034	broad.mit.edu	37	6	154567812	154567812	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:154567812C>T	ENST00000265198.4	-	5	311	c.156G>A	c.(154-156)aaG>aaA	p.K52K	IPCEF1_ENST00000519344.1_Silent_p.K24K|IPCEF1_ENST00000367220.4_Silent_p.K53K|IPCEF1_ENST00000422970.2_Silent_p.K53K|OPRM1_ENST00000337049.4_Intron	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						TTCCCTTTTCCTTTTTCTTAT	0.438000													18	24					0	0	0.00152264	0	0
DDX60L	91351	broad.mit.edu	37	4	169351758	169351758	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:169351758G>A	ENST00000511577.1	-	13	1795	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	DDX60L_ENST00000505890.1_Silent_p.F516F|DDX60L_ENST00000260184.7_Silent_p.F516F			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	516							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TCTTTTTCAGGAAATCAAGAA	0.333000													7	9					0	0	0.00198382	0	0
C1orf210	149466	broad.mit.edu	37	1	43748510	43748510	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:43748510C>T	ENST00000523677.1	-	3	521	c.288G>A	c.(286-288)caG>caA	p.Q96Q	C1orf210_ENST00000423420.1_Silent_p.Q96Q	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	96						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGTCCCAGGCTGAATGTAAT	0.602000													25	72					0	0	0.000878237	0	0
MMP12	4321	broad.mit.edu	37	11	102733896	102733896	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:102733896C>T	ENST00000532855.1	-	0	1443							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AAGTCATATTCAAATTGGTTA	0.313000													34	32					0	0	0.00148497	0	0
MUC16	94025	broad.mit.edu	37	19	8976641	8976641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:8976641G>A	ENST00000397910.4	-	74	42538	c.42335C>T	c.(42334-42336)cCc>cTc	p.P14112L	MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Missense_Mutation_p.P753L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14143	SEA 14.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGAACAAGGGTCTGAGCTT	0.567000													14	14					0	0	0.000422831	0	0
RNF17	56163	broad.mit.edu	37	13	25356014	25356014	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:25356014G>A	ENST00000255324.5	+	6	595	c.543G>A	c.(541-543)gaG>gaA	p.E181E	RNF17_ENST00000381921.1_Silent_p.E181E|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Silent_p.E181E	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	181					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AAACGATAGAGGAAAGAGAAA	0.308000													10	12					0	0	0.00185496	0	0
GNB5	10681	broad.mit.edu	37	15	52446245	52446245	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:52446245G>A	ENST00000261837.7	-	4	332	c.267C>T	c.(265-267)gcC>gcT	p.A89A	GNB5_ENST00000560116.1_Silent_p.A47A|GNB5_ENST00000396335.4_Silent_p.A47A|GNB5_ENST00000358784.7_Silent_p.A47A	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	89						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		ACTGCCCCAGGGCCTCCACCC	0.572000													6	13					0	0	0.00198382	0	0
SCN9A	6335	broad.mit.edu	37	2	167055909	167055909	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:167055909G>A	ENST00000375387.4	-	27	5583	c.5243C>T	c.(5242-5244)tCc>tTc	p.S1748F	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.S1736F|SCN9A_ENST00000303354.6_Missense_Mutation_p.S1748F|SCN9A_ENST00000409435.1_Missense_Mutation_p.S1747F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1747						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AACCAGGAAGGATATGATGAT	0.403000													135	120					0	0	0.000781405	0	0
TSNARE1	203062	broad.mit.edu	37	8	143381912	143381912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:143381912G>A	ENST00000519651.1	-	8	671	c.568C>T	c.(568-570)Ccg>Tcg	p.P190S	TSNARE1_ENST00000520166.1_Missense_Mutation_p.P409S|TSNARE1_ENST00000307180.3_Missense_Mutation_p.P409S|TSNARE1_ENST00000524325.1_Missense_Mutation_p.P408S|TSNARE1_ENST00000518928.1_5'UTR			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	409					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTGATGTCCGGGAGCAGCGCC	0.632000													15	35					0	0	0.000566183	0	0
MUC16	94025	broad.mit.edu	37	19	9091626	9091626	+	Silent	SNP	G	G	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9091626G>T	ENST00000397910.4	-	1	392	c.189C>A	c.(187-189)acC>acA	p.T63T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	63	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTGGCCAAGGTCTTATCTG	0.512000													12	55					6.40141e-05	0.000235061	0.000978159	1	0
LY9	4063	broad.mit.edu	37	1	160797565	160797565	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:160797565C>T	ENST00000263285.5	+	10	1957	c.1927C>T	c.(1927-1929)Ctt>Ttt	p.L643F	LY9_ENST00000368040.1_Missense_Mutation_p.L258F|LY9_ENST00000341032.4_Missense_Mutation_p.L509F|LY9_ENST00000368041.2_Missense_Mutation_p.L514F|LY9_ENST00000368035.1_Missense_Mutation_p.L258F	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	643					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACAGAATGATCTTGAGATTCC	0.473000													58	307					0	0	0.000781405	0	0
KIF25	3834	broad.mit.edu	37	6	168445589	168445589	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:168445589C>T	ENST00000443060.2	+	10	1459	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	KIF25_ENST00000351261.3_Silent_p.F304F|KIF25_ENST00000354419.2_Silent_p.F356F			Q9UIL4	KIF25_HUMAN	kinesin family member 25	356					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCCTGGGTTTCGGGATCCGAG	0.562000													29	44					0	0	0.00127121	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767939	31767939	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:31767939C>T	ENST00000240587.4	-	2	3087	c.2760G>A	c.(2758-2760)ggG>ggA	p.G920G		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	920					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGATGTACTTCCCTTCTGAGG	0.622000													13	54					0	0	0.00244969	0	0
FBXW8	26259	broad.mit.edu	37	12	117465961	117465961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:117465961C>T	ENST00000455858.2	+	11	1656	c.1583C>T	c.(1582-1584)cCc>cTc	p.P528L	FBXW8_ENST00000309909.5_Missense_Mutation_p.P594L	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	594							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CTGGCCTTTCCCTATAACCAT	0.532000													27	16					0	0	0.00127121	0	0
IP6K1	9807	broad.mit.edu	37	3	49770250	49770250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:49770250G>A	ENST00000321599.4	-	4	891	c.590C>T	c.(589-591)tCc>tTc	p.S197F	IP6K1_ENST00000395238.1_Missense_Mutation_p.S32F|IP6K1_ENST00000460540.1_Missense_Mutation_p.S32F|IP6K1_ENST00000468463.1_Missense_Mutation_p.S197F	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	197					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						CTTGGACTCGGAGCGCATGCG	0.557000													11	63					0	0	0.00244969	0	0
RUFY3	22902	broad.mit.edu	37	4	71630223	71630223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:71630223C>T	ENST00000226328.4	+	4	1065	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	RUFY3_ENST00000502653.1_Missense_Mutation_p.R115C|RUFY3_ENST00000417478.2_Missense_Mutation_p.R228C|RUFY3_ENST00000536664.1_Missense_Mutation_p.R152C|RUFY3_ENST00000381006.3_Missense_Mutation_p.R168C	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	168	RUN.				negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AGCCTGGCTTCGTTTGGCATT	0.368000													27	70					0	0	0.00178596	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209217485	209217485	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:209217485C>T	ENST00000264380.4	+	39	5981	c.5823C>T	c.(5821-5823)ttC>ttT	p.F1941F		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1941	Catalytic.|PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AAAATCTTTTCTACGGGAGAA	0.393000													43	66					0	0	0.000781405	0	0
SYT6	148281	broad.mit.edu	37	1	114641753	114641753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:114641753G>A	ENST00000393296.1	-	5	1404	c.1327C>T	c.(1327-1329)Caa>Taa	p.Q443*	SYT6_ENST00000369547.1_Nonsense_Mutation_p.Q358*			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	443	C2 2.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCTGACTTGATCCATGTTT	0.493000													38	194					0	0	0.000680045	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532927	84532927	+	RNA	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:84532927T>A	ENST00000527857.1	+	0	2949					NR_026851.1																						CGAAGCACTTTTCAAGGAGAA	0.478000													7	13					0	0	0.00185496	0	0
HCFC1	3054	broad.mit.edu	37	X	153224144	153224144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:153224144G>A	ENST00000310441.7	-	10	2645	c.1679C>T	c.(1678-1680)cCc>cTc	p.P560L	HCFC1_ENST00000354233.3_Missense_Mutation_p.P491L|HCFC1_ENST00000369984.4_Missense_Mutation_p.P560L	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	560					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGAGGAAGGGGGGATCTTCTG	0.657000													13	22					0	0	0.00136819	0	0
ATP12A	479	broad.mit.edu	37	13	25280559	25280559	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:25280559C>T	ENST00000218548.6	+	15	2478	c.2145C>T	c.(2143-2145)tcC>tcT	p.S715S	ATP12A_ENST00000381946.3_Silent_p.S709S	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	709					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CCCGGACATCCCCCCAGCAGA	0.572000													21	0					0	0	0.00047179	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62688069	62688069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:62688069C>T	ENST00000281156.4	-	4	663	c.385G>A	c.(385-387)Gat>Aat	p.D129N		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	129	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TGAAGCTCATCACTCAAGTGG	0.373000													9	14					0	0	0.000442599	0	0
C1orf94	84970	broad.mit.edu	37	1	34663286	34663286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:34663286G>A	ENST00000488417.1	+	2	901	c.781G>A	c.(781-783)Gac>Aac	p.D261N	C1orf94_ENST00000373374.3_Missense_Mutation_p.D71N	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	71							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GAATGTGCTGGACAAGACAAG	0.552000													18	66					0	0	0.00121646	0	0
NPY1R	4886	broad.mit.edu	37	4	164246778	164246778	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:164246778G>A	ENST00000296533.2	-	3	1363	c.832C>T	c.(832-834)Cct>Tct	p.P278S	NPY1R_ENST00000509586.1_Missense_Mutation_p.P35S	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	278					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATGGTAAGAGGGAGCCAGCAG	0.433000													34	15					0	0	0.0024448	0	0
KCNS3	3790	broad.mit.edu	37	2	18112700	18112700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:18112700C>T	ENST00000403915.1	+	3	876	c.425C>T	c.(424-426)aCc>aTc	p.T142I	KCNS3_ENST00000304101.4_Missense_Mutation_p.T142I|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	142					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GATGTGAGTACCGACTCCTCG	0.478000													46	42					0	0	0.0025221	0	0
TTN	7273	broad.mit.edu	37	2	179647612	179647612	+	Silent	SNP	C	C	T	rs147603843		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179647612C>T	ENST00000589042.1	-	18	3245	c.3021G>A	c.(3019-3021)gcG>gcA	p.A1007A	TTN_ENST00000360870.5_Silent_p.A1007A|TTN_ENST00000591111.1_Silent_p.A1007A|TTN_ENST00000359218.5_Silent_p.A961A|TTN_ENST00000342175.6_Silent_p.A961A|TTN_ENST00000342992.6_Silent_p.A1007A|TTN_ENST00000460472.2_Silent_p.A961A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1007	Ig-like 3.						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)			CGCTGTCTTCCGCAAATGCTT	0.502000													22	25					0	0	0.00152264	0	0
BANK1	55024	broad.mit.edu	37	4	102946546	102946546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:102946546C>T	ENST00000504592.1	+	13	1847	c.1429C>T	c.(1429-1431)Cct>Tct	p.P477S	BANK1_ENST00000508653.1_Missense_Mutation_p.P359S|BANK1_ENST00000444316.2_Missense_Mutation_p.P462S|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000322953.4_Missense_Mutation_p.P492S|BANK1_ENST00000428908.1_Missense_Mutation_p.P359S|BANK1_ENST00000510950.1_3'UTR			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	492					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGTGTTCATTCCTGGTGCTGA	0.498000													27	17					0	0	0.000720815	0	0
TAAR1	134864	broad.mit.edu	37	6	132966171	132966171	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:132966171G>A	ENST00000275216.1	-	1	971	c.972C>T	c.(970-972)ttC>ttT	p.F324F		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	324						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	AATCTTTTTGGAAAATTTTAC	0.299000													6	9					0	0	0.00198382	0	0
BRINP1	1620	broad.mit.edu	37	9	121930399	121930399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:121930399C>T	ENST00000265922.3	-	8	1710	c.1249G>A	c.(1249-1251)Ggc>Agc	p.G417S	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		417					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GTGGTGCTGCCGTGGCACACG	0.612000													8	16					0	0	0.000274275	0	0
PCM1	5108	broad.mit.edu	37	8	17822259	17822259	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:17822259G>A	ENST00000325083.8	+	18	3276	c.2837G>A	c.(2836-2838)gGa>gAa	p.G946E	PCM1_ENST00000524226.1_Missense_Mutation_p.G947E|PCM1_ENST00000519253.1_Missense_Mutation_p.G946E	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	946				G -> R (in Ref. 1; AAA60120).	centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TCCTACAATGGAAAGGAAACT	0.383000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								22	28					0	0	0.00278032	0	0
METAP2	10988	broad.mit.edu	37	12	95887837	95887837	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:95887837C>G	ENST00000323666.5	+	5	663	c.434C>G	c.(433-435)aCa>aGa	p.T145R	METAP2_ENST00000261220.9_Missense_Mutation_p.T122R|METAP2_ENST00000551840.1_Missense_Mutation_p.T144R|METAP2_ENST00000550777.1_Missense_Mutation_p.T109R|METAP2_ENST00000546753.1_Missense_Mutation_p.T122R	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	145					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	TAAAGGCGAACAGCTGCTTGG	0.373000													29	19					0	0	0.00127121	0	0
COL7A1	1294	broad.mit.edu	37	3	48621382	48621382	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:48621382G>A	ENST00000328333.8	-	38	4336	c.4229C>T	c.(4228-4230)cCc>cTc	p.P1410L	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1410L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1410	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGTCCAGGGGGACCCTGGGA	0.647000													11	28					0	0	0.00136819	0	0
UQCC2	84300	broad.mit.edu	37	6	33669180	33669180	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:33669180G>A	ENST00000607484.1	-	2	196	c.156C>T	c.(154-156)gcC>gcT	p.A52A	MNF1_ENST00000374214.3_Intron	NM_032340.3	NP_115716.1	Q9BRT2	CF125_HUMAN		52																	TCTGATCACAGGCCTCAGGCT	0.493000													45	51					0	0	0.000781405	0	0
PCDH18	54510	broad.mit.edu	37	4	138450973	138450973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:138450973C>T	ENST00000344876.4	-	1	2656	c.2270G>A	c.(2269-2271)gGg>gAg	p.G757E	PCDH18_ENST00000412923.2_Missense_Mutation_p.G757E|PCDH18_ENST00000507846.1_Missense_Mutation_p.G537E|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	757					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGTGATGTCCCCTTTGTGAAT	0.493000													15	20					0	0	0.000422831	0	0
ABLIM2	84448	broad.mit.edu	37	4	8089972	8089972	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:8089972C>T	ENST00000296372.8	-	4	520	c.378G>A	c.(376-378)ggG>ggA	p.G126G	ABLIM2_ENST00000361737.5_Silent_p.G126G|ABLIM2_ENST00000505872.1_Silent_p.G126G|ABLIM2_ENST00000545242.1_Silent_p.G126G|ABLIM2_ENST00000361581.5_Silent_p.G126G|ABLIM2_ENST00000407564.3_Silent_p.G126G|ABLIM2_ENST00000341937.5_Silent_p.G126G|ABLIM2_ENST00000447017.2_Silent_p.G126G|ABLIM2_ENST00000546334.1_Silent_p.G126G|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000428004.2_Silent_p.G126G			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	126	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						TGCATTCCTTCCCGTTGAAGG	0.652000													21	7					0	0	0.00047179	0	0
PPL	5493	broad.mit.edu	37	16	4935829	4935829	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:4935829C>T	ENST00000345988.2	-	22	2916	c.2827G>A	c.(2827-2829)Gat>Aat	p.D943N	PPL_ENST00000590782.2_Missense_Mutation_p.D941N	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	943					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGCACGGGATCCGGCACCTTC	0.607000													21	58					0	0	0.00278032	0	0
DNAH17	8632	broad.mit.edu	37	17	76526534	76526534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:76526534G>A	ENST00000389840.5	-	21	3299	c.3175C>T	c.(3175-3177)Cac>Tac	p.H1059Y	DNAH17_ENST00000585328.1_Missense_Mutation_p.H1056Y					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGCCAGCCGTGGAACACCTTG	0.607000													23	100					0	0	0.000878237	0	0
SUPT5H	6829	broad.mit.edu	37	19	39959788	39959788	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:39959788C>T	ENST00000599117.1	+	16	1580	c.1213C>T	c.(1213-1215)Ctg>Ttg	p.L405L	SUPT5H_ENST00000432763.2_Silent_p.L405L|SUPT5H_ENST00000359191.6_Silent_p.L401L|SUPT5H_ENST00000402194.2_Silent_p.L401L|SUPT5H_ENST00000598725.1_Silent_p.L405L			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	405	Interaction with RNA polymerase II.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGCATTGACCTGGAGGTGGT	0.597000													17	68					0	0	0.000422831	0	0
AFF2	2334	broad.mit.edu	37	X	148038032	148038032	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:148038032C>T	ENST00000370460.2	+	11	2936	c.2457C>T	c.(2455-2457)ctC>ctT	p.L819L	AFF2_ENST00000342251.3_Silent_p.L786L|AFF2_ENST00000286437.5_Silent_p.L460L|AFF2_ENST00000370457.5_Silent_p.L786L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	819					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGCTCACTCCATGCAGCAC	0.532000													33	40					0	0	0.00283554	0	0
TTN	7273	broad.mit.edu	37	2	179597422	179597422	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179597422G>A	ENST00000589042.1	-	56	16590	c.16366C>T	c.(16366-16368)Ccc>Tcc	p.P5456S	TTN_ENST00000591111.1_Missense_Mutation_p.P5139S|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P4212S|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5139	Ig-like 35.						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)			TTTGAGCCGGGTTTAGTTACA	0.423000													4	18					0	0	0.000602214	0	0
CELF2	10659	broad.mit.edu	37	10	11047405	11047405	+	Splice_Site	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:11047405T>A	ENST00000379261.4	+	1	145		c.e1+2		CELF2_ENST00000416382.2_Splice_Site	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2						mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GCTTTTAAGGTATGTTGTTGT	0.393000													48	67					0	0	0.000781405	0	0
ACSS3	79611	broad.mit.edu	37	12	81627164	81627164	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:81627164G>T	ENST00000548058.1	+	13	2543	c.1633G>T	c.(1633-1635)Gaa>Taa	p.E545*	ACSS3_ENST00000261206.3_Nonsense_Mutation_p.E544*|ACSS3_ENST00000548324.1_Nonsense_Mutation_p.E227*			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	545						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTACATGGATGAAGAAGGCTA	0.338000													11	15					9.05144e-12	3.3377e-11	0.00185496	1	0
GRK4	2868	broad.mit.edu	37	4	3015443	3015443	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:3015443G>A	ENST00000398052.4	+	8	972	c.629G>A	c.(628-630)gGa>gAa	p.G210E	GRK4_ENST00000398051.4_Missense_Mutation_p.G178E|GRK4_ENST00000345167.6_Missense_Mutation_p.G178E|GRK4_ENST00000504933.1_Missense_Mutation_p.G210E	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	210	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGAGCCACAGGAAAAATGTAT	0.398000													64	174					0	0	0.000781405	0	0
RTN1	6252	broad.mit.edu	37	14	60076840	60076840	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:60076840C>T	ENST00000395090.1	-	2	274	c.16_splice	c.e2+1	p.A6_splice	RTN1_ENST00000342503.4_Intron|RTN1_ENST00000557422.1_Intron|RTN1_ENST00000267484.5_Intron			Q16799	RTN1_HUMAN	reticulon 1	589					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TGCTTTATACCTGGTAGAAAT	0.463000													8	15					0	0	0.000673444	0	0
CDKN1A	1026	broad.mit.edu	37	6	36651888	36651888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:36651888C>T	ENST00000405375.1	+	2	245	c.10C>T	c.(10-12)Ccg>Tcg	p.P4S	CDKN1A_ENST00000373711.2_Missense_Mutation_p.P4S|CDKN1A_ENST00000244741.5_Missense_Mutation_p.P4S|CDKN1A_ENST00000448526.2_Missense_Mutation_p.P38S|CDKN1A_ENST00000478800.1_3'UTR	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	4			P -> L (in dbSNP:rs4986866).		cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CATGTCAGAACCGGCTGGGGA	0.632000													6	12					0	0	0.00116845	0	0
BAGE2	85319	broad.mit.edu	37	21	11039034	11039034	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:11039034G>A	ENST00000470054.1	-	0	1169									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAATTGTAGGAGTCATTTCA	0.378000													48	128					0	0	0.000781405	0	0
KRT23	25984	broad.mit.edu	37	17	39092815	39092815	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:39092815G>A	ENST00000209718.3	-	2	465	c.41C>T	c.(40-42)tCc>tTc	p.S14F	KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	14	Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GCCATGGAAGGAGGCCGAGGG	0.687000													24	41					0	0	0.0024448	0	0
MARCH10	162333	broad.mit.edu	37	17	60814507	60814507	+	Missense_Mutation	SNP	C	C	T	rs17853369		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:60814507C>T	ENST00000544856.2	-	7	1097	c.719G>A	c.(718-720)gGa>gAa	p.G240E	RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.G241E|MARCH10_ENST00000311269.5_Missense_Mutation_p.G241E|MARCH10_ENST00000583600.1_Missense_Mutation_p.G279E			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	241							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						ACTATTTTTTCCTTGGAAGGC	0.532000													40	163					0	0	0.000953801	0	0
MIP	4284	broad.mit.edu	37	12	56847452	56847452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:56847452C>T	ENST00000257979.4	-	2	476	c.448G>A	c.(448-450)Gac>Aac	p.D150N	MIP_ENST00000555551.1_5'UTR	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	150					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						CGCCTCTCGTCGTATGTGGCA	0.602000													11	28					0	0	0.00136819	0	0
RPH3A	22895	broad.mit.edu	37	12	113306309	113306309	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:113306309G>A	ENST00000389385.4	+	8	1016	c.519G>A	c.(517-519)aaG>aaA	p.K173K	RPH3A_ENST00000551052.1_Silent_p.K169K|RPH3A_ENST00000420983.2_Silent_p.K173K|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Silent_p.K173K|RPH3A_ENST00000447659.2_Silent_p.K124K|RPH3A_ENST00000415485.3_Silent_p.K173K|RPH3A_ENST00000548866.1_Silent_p.K124K	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	173	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGCCTATAAAGAAGACCAAGC	0.592000													13	26					0	0	0.00136819	0	0
BBC3	27113	broad.mit.edu	37	19	47725013	47725013	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:47725013G>A	ENST00000449228.1	-	4	894	c.731C>T	c.(730-732)cCc>cTc	p.P244L	BBC3_ENST00000300880.7_Missense_Mutation_p.P84L|BBC3_ENST00000341983.4_3'UTR|BBC3_ENST00000439096.2_3'UTR	NM_001127240.2	NP_001120712.1	Q9BXH1	BBC3_HUMAN	BCL2 binding component 3	0					activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol	cytosol|mitochondrial outer membrane	protein binding			endometrium(1)|lung(2)|skin(1)	4		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)		AGGTGGGAGGGGCCTGCCCCC	0.711000													9	10					0	0	0.000673444	0	0
SLC17A4	10050	broad.mit.edu	37	6	25776929	25776929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:25776929C>T	ENST00000377905.4	+	9	1213	c.1094C>T	c.(1093-1095)aCc>aTc	p.T365I	SLC17A4_ENST00000439485.2_Missense_Mutation_p.T135I|SLC17A4_ENST00000397076.2_Missense_Mutation_p.T135I	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	365					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGACTCATCACCATCAGGAAA	0.483000													16	31					0	0	0.000422831	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723084	58723084	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:58723084G>A	ENST00000300079.5	+	7	636	c.584_splice	c.e7-1	p.E196_splice	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Splice_Site_p.E165_splice	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	165						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TGTCTACAGTGAAACTCCCAA	0.428000													11	14					0	0	0.00136819	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6244543	6244543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:6244543C>T	ENST00000400104.3	-	6	464	c.264G>A	c.(262-264)atG>atA	p.M88I	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.M88I|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.M88I|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.M88I			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	88					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CTTCTAATCTCATTCCAATCT	0.413000													43	201					0	0	0.000781405	0	0
PDGFRA	5156	broad.mit.edu	37	4	55129979	55129979	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:55129979C>T	ENST00000257290.5	+	4	844	c.513C>T	c.(511-513)tcC>tcT	p.S171S	PDGFRA_ENST00000508170.1_Silent_p.S171S|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	171	Ig-like C2-type 2.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TACCTGCCTCCTACGACAGCA	0.502000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			12	41					0	0	0.00136819	0	0
MUC5AC	4586	broad.mit.edu	37	11	1156224	1156224	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:1156224G>A	ENST00000356191.2	+	7	545	c.545G>A	c.(544-546)tGg>tAg	p.W182*						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		AGGCCAGGCTGGGCCTTGTCC	0.662000													15	23					0	0	0.000422831	0	0
ISX	91464	broad.mit.edu	37	22	35478517	35478517	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:35478517G>A	ENST00000308700.6	+	2	1188	c.236G>A	c.(235-237)aGg>aAg	p.R79K	ISX_ENST00000404699.2_Missense_Mutation_p.R79K	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	79						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCAGAAGGAAGGAAGAGCAAG	0.552000													42	123					0	0	0.000680045	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525557	176525557	+	Silent	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:176525557C>A	ENST00000367662.3	+	2	1263	c.99C>A	c.(97-99)tcC>tcA	p.S33S	PAPPA2_ENST00000367661.3_Silent_p.S33S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	33					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCAAGAAATCCTTGGTTGAGA	0.527000													52	79					2.29192e-23	8.48711e-23	0.000781405	1	0
CYP2B7P	1556	broad.mit.edu	37	19	41442133	41442133	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:41442133C>T	ENST00000599198.1	+	0	357					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						GGGGAAAAATCGTCATCATGG	0.612000													19	19					0	0	0.00229938	0	0
CATSPERG	57828	broad.mit.edu	37	19	38845361	38845361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:38845361C>T	ENST00000409235.3	+	9	1124	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	CATSPERG_ENST00000215069.4_Missense_Mutation_p.R350C|CATSPERG_ENST00000410018.1_Missense_Mutation_p.R337C	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	337					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CAGTTGGATTCGTGTCCTGGC	0.567000													26	87					0	0	0.000720815	0	0
SRBD1	55133	broad.mit.edu	37	2	45645518	45645518	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:45645518G>A	ENST00000263736.4	-	18	2381	c.2319C>T	c.(2317-2319)atC>atT	p.I773I	SRBD1_ENST00000535761.1_Silent_p.I292I|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	773					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AAAACGTTCGGATATAATCCT	0.413000													27	85					0	0	0.000692331	0	0
SCMH1	22955	broad.mit.edu	37	1	41494270	41494270	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:41494270G>A	ENST00000402904.2	-	15	2211	c.1843C>T	c.(1843-1845)Ctg>Ttg	p.L615L	SCMH1_ENST00000472037.1_5'UTR|SCMH1_ENST00000456518.2_Silent_p.L435L|SCMH1_ENST00000372597.1_Silent_p.L546L|SCMH1_ENST00000337495.5_Silent_p.L603L|SCMH1_ENST00000361705.3_Silent_p.L546L|SCMH1_ENST00000361191.5_Silent_p.L532L|SCMH1_ENST00000372596.1_Silent_p.L532L|SCMH1_ENST00000326197.7_Silent_p.L615L|SCMH1_ENST00000372595.1_Silent_p.L554L|SCMH1_ENST00000397171.2_Silent_p.L532L|SCMH1_ENST00000397174.2_Silent_p.L573L	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	615	SAM.				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				TTGCGAAACAGGTCAGCGTGG	0.587000													32	109					0	0	0.00058488	0	0
EP400	57634	broad.mit.edu	37	12	132546845	132546845	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:132546845C>T	ENST00000333577.4	+	47	8292	c.8183C>T	c.(8182-8184)tCt>tTt	p.S2728F	EP400_ENST00000330386.6_Missense_Mutation_p.S2611F|EP400_ENST00000389562.2_Missense_Mutation_p.S2691F|EP400_ENST00000389561.2_Missense_Mutation_p.S2692F|EP400_ENST00000332482.4_Missense_Mutation_p.S2655F			Q96L91	EP400_HUMAN	E1A binding protein p400	2728	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCGGCACGGTCTTTGGTGCCC	0.617000													18	36					0	0	0.00074312	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127354	45127354	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:45127354G>A	ENST00000575173.1	-	0	418																											GAACACCCAAGGTCAAAAAGA	0.433000													58	457					0	0	0.000781405	0	0
COLEC10	10584	broad.mit.edu	37	8	120114604	120114604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:120114604G>A	ENST00000332843.2	+	4	351	c.310G>A	c.(310-312)Ggt>Agt	p.G104S	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	104	Collagen-like.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			AGGGGAAAAAGGTTTGCTTGG	0.323000													6	20					0	0	0.000673444	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21542517	21542517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:21542517C>T	ENST00000298694.4	+	3	755	c.628C>T	c.(628-630)Cca>Tca	p.P210S	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.P210S			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	210					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CTCTGGACCTCCAGGGCTTCC	0.617000													7	12					0	0	0.00198382	0	0
KRT82	3888	broad.mit.edu	37	12	52794341	52794341	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:52794341C>G	ENST00000257974.2	-	4	824	c.747G>C	c.(745-747)gaG>gaC	p.E249D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	249	Coil 1B.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GGAAGTCGATCTCCTGCACGA	0.592000													18	60					0	0	0.00188189	0	0
LPPR1	54886	broad.mit.edu	37	9	104032222	104032222	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:104032222C>T	ENST00000374874.3	+	3	563	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	LPPR1_ENST00000395056.2_Nonsense_Mutation_p.Q42*	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		42						integral to membrane	catalytic activity										TGACACTTTTCAGGTGCATAT	0.493000													20	75					0	0	0.00188189	0	0
ABCC6	368	broad.mit.edu	37	16	16315560	16315560	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:16315560G>A	ENST00000205557.7	-	2	194	c.165C>T	c.(163-165)atC>atT	p.I55I	ABCC6_ENST00000574094.1_5'UTR|ABCC6_ENST00000575728.1_Silent_p.I55I	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	55					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CATGGTGGTGGATGAAGAGGA	0.617000													8	22					0	0	0.000978159	0	0
COL15A1	1306	broad.mit.edu	37	9	101748019	101748019	+	Silent	SNP	C	C	T	rs141708640		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:101748019C>T	ENST00000375001.3	+	3	696	c.273C>T	c.(271-273)ttC>ttT	p.F91F		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	91	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCAGGGACTTCGCCATCAGCG	0.622000													15	36					0	0	0.000566183	0	0
ATAD3C	219293	broad.mit.edu	37	1	1403781	1403781	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:1403781C>T	ENST00000378785.2	+	12	2102	c.1107C>T	c.(1105-1107)tcC>tcT	p.S369S		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	369							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGTATGCCTCCAAGGACGGGG	0.667000													6	67					0	0	0.000442599	0	0
P4HTM	54681	broad.mit.edu	37	3	49043268	49043268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:49043268C>T	ENST00000343546.4	+	7	1683	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	P4HTM_ENST00000383729.4_Missense_Mutation_p.P378S	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	378	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GACTGTTTTCCCTGTAGCAGA	0.512000													53	177					0	0	0.000781405	0	0
SULF2	55959	broad.mit.edu	37	20	46313184	46313184	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:46313184G>A	ENST00000359930.4	-	6	1730	c.879C>T	c.(877-879)tcC>tcT	p.S293S	CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Silent_p.S293S|SULF2_ENST00000484875.1_Silent_p.S293S|SULF2_ENST00000467815.1_Silent_p.S293S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	293					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCGTCTCCATGGAGTCGTCCA	0.637000													22	8					0	0	0.000878237	0	0
CLRN2	645104	broad.mit.edu	37	4	17528501	17528501	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:17528501G>A	ENST00000511148.2	+	3	597	c.495G>A	c.(493-495)acG>acA	p.T165T		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	165						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						ACGACCTGACGGAACGAATCG	0.547000													22	51					0	0	0.00188189	0	0
TENM2	57451	broad.mit.edu	37	5	167674098	167674098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:167674098G>A	ENST00000519204.1	+	26	5909	c.5791G>A	c.(5791-5793)Gtc>Atc	p.V1931I	TENM2_ENST00000403607.2_Missense_Mutation_p.V1876I|TENM2_ENST00000545108.1_Missense_Mutation_p.V2051I|TENM2_ENST00000520394.1_Missense_Mutation_p.V1813I|TENM2_ENST00000518659.1_Missense_Mutation_p.V2052I					teneurin transmembrane protein 2																		CTTGAAGATGGTCAACCTCCA	0.527000													37	26					0	0	0.000953801	0	0
DCN	1634	broad.mit.edu	37	12	91572209	91572209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:91572209G>A	ENST00000551354.1	-	2	325	c.121C>T	c.(121-123)Cct>Tct	p.P41S	DCN_ENST00000550099.1_Missense_Mutation_p.P41S|DCN_ENST00000052754.5_Missense_Mutation_p.P41S|DCN_ENST00000546745.1_Missense_Mutation_p.P41S|DCN_ENST00000552962.1_Missense_Mutation_p.P41S|DCN_ENST00000441303.2_Missense_Mutation_p.P41S|DCN_ENST00000393155.1_Missense_Mutation_p.P41S|DCN_ENST00000547568.2_Missense_Mutation_p.P41S|DCN_ENST00000303320.3_Missense_Mutation_p.P41S|DCN_ENST00000425043.1_Missense_Mutation_p.P41S|DCN_ENST00000420120.2_Missense_Mutation_p.P41S|DCN_ENST00000456569.2_Missense_Mutation_p.P41S|DCN_ENST00000546370.1_Missense_Mutation_p.P41S|DCN_ENST00000228329.5_Missense_Mutation_p.P41S			P07585	PGS2_HUMAN	decorin	41					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						CGGTCATCAGGAACTTCTGGG	0.537000											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	26					0	0	0.00283554	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362808	49362808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:49362808G>A	ENST00000263265.6	-	7	1165	c.610C>T	c.(610-612)Cgt>Tgt	p.R204C	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R204C|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	204	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGTCTACCACGACCTCTGGAG	0.677000													33	33					0	0	0.000953801	0	0
AP3B1	8546	broad.mit.edu	37	5	77385277	77385277	+	Silent	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:77385277A>C	ENST00000255194.6	-	22	2692	c.2517T>G	c.(2515-2517)tcT>tcG	p.S839S	AP3B1_ENST00000519295.1_Silent_p.S790S	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	839					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TCAAACTTGGAGAAAGAGCTG	0.383000									Hermansky-Pudlak syndrome				9	20					0	0	0.00185496	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77359872	77359872	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:77359872G>A	ENST00000282849.5	-	13	2341	c.1923C>T	c.(1921-1923)aaC>aaT	p.N641N		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	641	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N641N(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CATTGCAAGGGTTAATATTGC	0.393000													9	19					0	0	0.000274275	0	0
SLC9A2	6549	broad.mit.edu	37	2	103236409	103236409	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:103236409G>A	ENST00000233969.2	+	1	244	c.102G>A	c.(100-102)gaG>gaA	p.E34E		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	34						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						cCCTGGCGGAGACCTTGCTGA	0.711000													10	7					0	0	0.000673444	0	0
BBS4	585	broad.mit.edu	37	15	73002052	73002052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:73002052C>T	ENST00000268057.4	+	3	129	c.88C>T	c.(88-90)Cct>Tct	p.P30S	BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.P18S|BBS4_ENST00000395205.2_Missense_Mutation_p.P38S	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	30	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						TCCAGAGTTTCCTATTTTGGA	0.358000									Bardet-Biedl syndrome				43	82					0	0	0.000781405	0	0
ASB13	79754	broad.mit.edu	37	10	5683848	5683848	+	Silent	SNP	G	G	A	rs61756319	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:5683848G>A	ENST00000357700.6	-	5	620	c.594C>T	c.(592-594)atC>atT	p.I198I	ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	198					intracellular signal transduction		protein binding			NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		TAAGCATCTCGATGAGGTCAA	0.582000													24	24					0	0	0.00178596	0	0
SZRD1	26099	broad.mit.edu	37	1	16721659	16721659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:16721659C>T	ENST00000375590.3	+	4	395	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	SZRD1_ENST00000401088.4_3'UTR|SZRD1_ENST00000471507.1_3'UTR|SZRD1_ENST00000401089.3_3'UTR|SZRD1_ENST00000492354.1_3'UTR|SZRD1_ENST00000472461.1_3'UTR					SUZ RNA binding domain containing 1																		AAGATGCCGCCGTTGCTGCCG	0.572000													5	22					0	0	0.00116845	0	0
SEC23IP	11196	broad.mit.edu	37	10	121675306	121675306	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:121675306C>T	ENST00000369075.3	+	8	1521	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F	SEC23IP_ENST00000543134.1_Silent_p.F272F	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	483					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GGACACATTTCAAGAAATCTT	0.398000													24	79					0	0	0.00047179	0	0
KLHL4	56062	broad.mit.edu	37	X	86888766	86888766	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:86888766G>A	ENST00000373119.4	+	8	1712	c.1567G>A	c.(1567-1569)Gga>Aga	p.G523R	KLHL4_ENST00000373114.4_Missense_Mutation_p.G523R	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	523						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CACTCTTGAAGGACCAATGTA	0.403000													13	19					0	0	0.000422831	0	0
MRPS24	64951	broad.mit.edu	37	7	43906562	43906562	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:43906562G>A	ENST00000317534.5	-	4	301	c.240C>T	c.(238-240)gaC>gaT	p.D80D	MRPS24_ENST00000467084.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_3'UTR	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	80					translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						CTGCGGCATGGTCCTCTCCAT	0.552000													60	15					0	0	0.000781405	0	0
ABCB4	5244	broad.mit.edu	37	7	87032569	87032569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:87032569C>T	ENST00000265723.4	-	27	3647	c.3536G>A	c.(3535-3537)gGg>gAg	p.G1179E	ABCB4_ENST00000359206.3_Missense_Mutation_p.G1172E|ABCB4_ENST00000358400.3_Missense_Mutation_p.G1125E|ABCB4_ENST00000545634.1_Missense_Mutation_p.G1172E|ABCB4_ENST00000453593.1_Missense_Mutation_p.G1125E	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1179	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GAGCTGAGTCCCCTTATCTCC	0.408000													36	88					0	0	0.00128727	0	0
CPA3	1359	broad.mit.edu	37	3	148601524	148601524	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:148601524C>T	ENST00000296046.3	+	9	955	c.903C>T	c.(901-903)atC>atT	p.I301I	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	301				I -> T (in Ref. 5; AAB22578).	proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AGGTTTACATCACCTTCCATT	0.438000													15	35					0	0	0.000566183	0	0
FAM135B	51059	broad.mit.edu	37	8	139164728	139164728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:139164728C>T	ENST00000395297.1	-	13	2160	c.1990G>A	c.(1990-1992)Gaa>Aaa	p.E664K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	664										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)			TCCTGCTCTTCTGTGTGAGAG	0.507000										HNSCC(54;0.14)			19	74					0	0	0.00121646	0	0
ABCA2	20	broad.mit.edu	37	9	139915991	139915991	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:139915991G>A	ENST00000265662.5	-	8	897	c.750C>T	c.(748-750)atC>atT	p.I250I	ABCA2_ENST00000341511.6_Silent_p.I250I|ABCA2_ENST00000371605.3_Silent_p.I249I|ABCA2_ENST00000492260.1_5'UTR			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	249					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCACAGTGAGGATCCGGCCCA	0.697000													4	5					0	0	0.000602214	0	0
NPC1L1	29881	broad.mit.edu	37	7	44561837	44561837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:44561837G>A	ENST00000289547.4	-	11	2697	c.2642C>T	c.(2641-2643)tCg>tTg	p.S881L	NPC1L1_ENST00000381160.3_Missense_Mutation_p.S881L|NPC1L1_ENST00000546276.1_Intron	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	881					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AAGCAGGTACGAGTCCTAGGA	0.542000													24	2					0	0	0.00047179	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23830201	23830201	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:23830201C>T	ENST00000264867.2	-	5	698	c.579G>A	c.(577-579)gcG>gcA	p.A193A	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	193					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AAATACTCTTCGCTTTATTGC	0.413000													26	22					0	0	0.00127121	0	0
ZNF638	27332	broad.mit.edu	37	2	71655768	71655768	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:71655768C>T	ENST00000409544.1	+	25	6267	c.5637C>T	c.(5635-5637)ttC>ttT	p.F1879F	ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Silent_p.F1879F|ZNF638_ENST00000409407.1_Silent_p.F819F	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1879					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAGAGGCCTTCCAGATGAGTG	0.388000													43	105					0	0	0.00195071	0	0
UBXN2B	137886	broad.mit.edu	37	8	59352256	59352256	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:59352256C>T	ENST00000399598.2	+	6	720	c.598C>T	c.(598-600)Cat>Tat	p.H200Y		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	200	SEP.					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						TATGGAGGATCATCAGGATCA	0.383000													27	55					0	0	0.000878237	0	0
IGLV7-43	28776	broad.mit.edu	37	22	22749647	22749647	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:22749647C>T	ENST00000390298.2	+	0	205																											CAAACTGGTTCCAGCAGAAAC	0.567000													9	38					0	0	0.000274275	0	0
FRMD7	90167	broad.mit.edu	37	X	131212788	131212788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:131212788C>T	ENST00000298542.4	-	12	1432	c.1257G>A	c.(1255-1257)atG>atA	p.M419I	FRMD7_ENST00000370879.1_Missense_Mutation_p.M299I|FRMD7_ENST00000464296.1_Missense_Mutation_p.M404I	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	419					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AGACAGGGTCCATATAAATAA	0.448000													100	3					0	0	0.000781405	0	0
ATXN1	6310	broad.mit.edu	37	6	16327105	16327105	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:16327105G>A	ENST00000244769.4	-	8	2373	c.1437C>T	c.(1435-1437)ccC>ccT	p.P479P	ATXN1_ENST00000436367.1_Silent_p.P479P	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	479					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCAGGTGCTGGGGCAGGCTGC	0.672000													48	151					0	0	0.000781405	0	0
OR4A15	81328	broad.mit.edu	37	11	55136139	55136139	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:55136139G>A	ENST00000314706.3	+	1	780	c.780G>A	c.(778-780)ggG>ggA	p.G260G		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GTTTGGAAGGGAAACGAAAAG	0.433000													16	11					0	0	0.000308642	0	0
CACNA1E	777	broad.mit.edu	37	1	181726091	181726091	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:181726091G>A	ENST00000526775.1	+	29	4266	c.4101G>A	c.(4099-4101)gaG>gaA	p.E1367E	CACNA1E_ENST00000357570.5_Silent_p.E1337E|CACNA1E_ENST00000367570.1_Silent_p.E1386E|CACNA1E_ENST00000360108.3_Silent_p.E1367E|CACNA1E_ENST00000367573.2_Silent_p.E1386E|CACNA1E_ENST00000358338.5_Silent_p.E1318E|CACNA1E_ENST00000367567.4_Silent_p.E993E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1386					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						ATGTGACAGAGGAAGACCGAG	0.488000													45	124					0	0	0.000781405	0	0
ASPM	259266	broad.mit.edu	37	1	197111575	197111575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:197111575G>A	ENST00000367409.4	-	3	2063	c.1807C>T	c.(1807-1809)Cat>Tat	p.H603Y	ASPM_ENST00000294732.7_Missense_Mutation_p.H603Y	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	603					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GGAGAAAAATGGATTCTTTTG	0.378000													37	203					0	0	0.000953801	0	0
DAW1	164781	broad.mit.edu	37	2	228758545	228758545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:228758545C>T	ENST00000373666.2	+	5	988	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F	DAW1_ENST00000472604.1_3'UTR|DAW1_ENST00000545118.1_Missense_Mutation_p.L103F|DAW1_ENST00000309931.2_Missense_Mutation_p.L118F					dynein assembly factor with WDR repeat domains 1																		GACGTGCAAGCTCTGGGACAC	0.468000													12	60					0	0	0.00244969	0	0
ZNF99	7652	broad.mit.edu	37	19	22940868	22940868	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:22940868G>A	ENST00000397104.3	-	5	1569	c.1570C>T	c.(1570-1572)Cat>Tat	p.H524Y	ZNF99_ENST00000596209.1_Missense_Mutation_p.H615Y					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTCCAGTATGAATTATCTGA	0.383000													9	16					0	0	0.000673444	0	0
SLC28A3	64078	broad.mit.edu	37	9	86894981	86894981	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:86894981C>T	ENST00000376238.4	-	16	1786	c.1737G>A	c.(1735-1737)atG>atA	p.M579I	RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Missense_Mutation_p.M510I	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	579					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TGGAAGGAGCCATGGATGCTG	0.532000													8	19					0	0	0.000274275	0	0
DIAPH1	1729	broad.mit.edu	37	5	140953720	140953720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140953720G>A	ENST00000253811.6	-	16	1837	c.1697C>T	c.(1696-1698)tCt>tTt	p.S566F	DIAPH1_ENST00000398557.4_Missense_Mutation_p.S566F|DIAPH1_ENST00000398566.3_Missense_Mutation_p.S557F|DIAPH1_ENST00000389054.3_Missense_Mutation_p.S566F|DIAPH1_ENST00000398562.2_Missense_Mutation_p.S557F|DIAPH1_ENST00000518047.1_Missense_Mutation_p.S557F|DIAPH1_ENST00000520569.1_Missense_Mutation_p.S512F|DIAPH1_ENST00000389057.5_Missense_Mutation_p.S557F			O60610	DIAP1_HUMAN	diaphanous-related formin 1	566					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGCCGCAGAGAGGGAAGC	0.498000													20	31					0	0	0.00278032	0	0
FAT4	79633	broad.mit.edu	37	4	126373056	126373056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:126373056C>T	ENST00000394329.3	+	9	10898	c.10885C>T	c.(10885-10887)Ccc>Tcc	p.P3629S	FAT4_ENST00000335110.5_Missense_Mutation_p.P1927S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3629					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						TAACTTGTTTCCCGGTGGGAT	0.443000													25	16					0	0	0.000878237	0	0
STAC	6769	broad.mit.edu	37	3	36570432	36570432	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:36570432C>T	ENST00000273183.3	+	10	1365	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	STAC_ENST00000457375.2_Silent_p.F294F	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	355					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						TTAGAACCTTCATTGGGTGTA	0.393000													9	34					0	0	0.000274275	0	0
HP1BP3	50809	broad.mit.edu	37	1	21103228	21103228	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:21103228G>A	ENST00000312239.5	-	4	351	c.212C>T	c.(211-213)tCa>tTa	p.S71L	HP1BP3_ENST00000375000.1_Missense_Mutation_p.S71L|HP1BP3_ENST00000487117.1_5'UTR	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	71					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		AGATTCCTCTGAACTTATGTC	0.413000													31	122					0	0	0.00283554	0	0
SGSM1	129049	broad.mit.edu	37	22	25294507	25294507	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:25294507C>T	ENST00000400358.4	+	19	2648	c.2591C>T	c.(2590-2592)tCc>tTc	p.S864F	SGSM1_ENST00000400359.4_Missense_Mutation_p.S919F	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	919	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CCTGTGTCTTCCAGCGGCGTC	0.557000													126	59					0	0	0.000781405	0	0
TTC18	118491	broad.mit.edu	37	10	75037095	75037095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:75037095G>A	ENST00000401621.2	-	22	2753	c.2633C>T	c.(2632-2634)tCa>tTa	p.S878L	TTC18_ENST00000493787.1_Intron|TTC18_ENST00000394865.1_Missense_Mutation_p.S878L|TTC18_ENST00000355577.3_Missense_Mutation_p.S347L|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000310715.3_Missense_Mutation_p.S878L			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	878							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)					CAGAAGAGCTGATGAATCTTG	0.388000													25	36					0	0	0.000586117	0	0
OR8D2	283160	broad.mit.edu	37	11	124189886	124189886	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:124189886C>T	ENST00000357438.2	-	1	298	c.208G>A	c.(208-210)Gat>Aat	p.D70N		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TAGCAGAGATCAATGAAAGAC	0.413000													9	9					0	0	0.000442599	0	0
EVPL	2125	broad.mit.edu	37	17	74015056	74015056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:74015056C>T	ENST00000301607.3	-	11	1476	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	EVPL_ENST00000586740.1_Missense_Mutation_p.R408Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	408	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGGTTTCTTCGCTGTGGCAG	0.682000													10	30					0	0	0.000673444	0	0
RGS11	8786	broad.mit.edu	37	16	320987	320987	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:320987G>A	ENST00000397770.3	-	13	992	c.975C>T	c.(973-975)ttC>ttT	p.F325F	RGS11_ENST00000316163.5_Silent_p.F304F|ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Silent_p.F314F			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	325	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TCTCACCACTGAACTCCTTTC	0.677000													13	12					0	0	0.000308642	0	0
CNGB1	1258	broad.mit.edu	37	16	57965772	57965772	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:57965772C>T	ENST00000564448.1	-	17	1425	c.1365G>A	c.(1363-1365)acG>acA	p.T455T	CNGB1_ENST00000251102.8_Silent_p.T461T|CNGB1_ENST00000564654.1_5'UTR			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	461					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGTGCTGTTTCGTGGCAGGCA	0.547000													20	29					0	0	0.00278032	0	0
TAF1L	138474	broad.mit.edu	37	9	32633142	32633142	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:32633142C>T	ENST00000242310.4	-	1	2525	c.2436G>A	c.(2434-2436)ggG>ggA	p.G812G		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	812					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGGAGTTAGGCCCAGGAACTT	0.438000													39	27					0	0	0.00195071	0	0
PADI1	29943	broad.mit.edu	37	1	17548886	17548886	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:17548886A>T	ENST00000375471.4	+	2	286	c.194A>T	c.(193-195)aAg>aTg	p.K65M		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	65					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CCCATAGGCAAGGCCCGTTGG	0.542000													35	164					0	0	0.00148497	0	0
ALPPL2	251	broad.mit.edu	37	2	233274158	233274158	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:233274158G>A	ENST00000295453.3	+	10	1352	c.1300_splice	c.e10+1	p.G434_splice		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	434					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GAGCGAGAGCGGTGAGTGCCG	0.662000													4	6					0	0	0.00116845	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420946	105420946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:105420946G>A	ENST00000333244.5	-	7	961	c.842C>T	c.(841-843)tCg>tTg	p.S281L		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	281						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCTCTGACGAGCTGTGTGA	0.612000													24	6					0	0	0.000586117	0	0
DHRS7	51635	broad.mit.edu	37	14	60620752	60620752	+	Silent	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:60620752A>G	ENST00000216500.5	-	4	773	c.318T>C	c.(316-318)ctT>ctC	p.L106L	PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000557185.1_Silent_p.L106L|DHRS7_ENST00000536410.2_Silent_p.L56L|PCNXL4_ENST00000406949.1_Intron			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	106							binding|oxidoreductase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		GGGGCAAAACAAGTATATCTT	0.398000													35	26					0	0	0.00195071	0	0
CBLC	23624	broad.mit.edu	37	19	45281499	45281499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:45281499G>A	ENST00000270279.3	+	1	374	c.311G>A	c.(310-312)aGg>aAg	p.R104K	CBLC_ENST00000341505.4_Missense_Mutation_p.R104K	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	104	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CGGGGCCGAAGGAGTGCCAAC	0.672000			M		AML								63	119					0	0	0.000781405	0	0
AADACL4	343066	broad.mit.edu	37	1	12711266	12711266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:12711266C>T	ENST00000376221.1	+	2	293	c.293C>T	c.(292-294)cCc>cTc	p.P98L		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	98						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGGACGATACCCGTGAGGCTG	0.522000													17	61					0	0	0.000958276	0	0
CYP2C19	1557	broad.mit.edu	37	10	96609702	96609702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:96609702C>T	ENST00000371321.3	+	8	1260	c.1178C>T	c.(1177-1179)tCt>tTt	p.S393F	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	393					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TCCCTCACTTCTGTGCTACAT	0.398000													23	23					0	0	0.000586117	0	0
ATP4A	495	broad.mit.edu	37	19	36050865	36050865	+	Missense_Mutation	SNP	C	C	T	rs140861099		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:36050865C>T	ENST00000262623.3	-	7	926	c.898G>A	c.(898-900)Gag>Aag	p.E300K		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	300					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	ACAAAATGCTCGATCTCGATA	0.582000													15	86					0	0	0.000566183	0	0
PIPSL	266971	broad.mit.edu	37	10	95720783	95720783	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:95720783C>T	ENST00000480546.1	-	0	514					NR_002319.2																						ACCACTAGCTCCAGAGCTACA	0.502000													15	14					0	0	0.00244969	0	0
SPAM1	6677	broad.mit.edu	37	7	123595075	123595075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:123595075G>A	ENST00000340011.5	+	4	1336	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	SPAM1_ENST00000439500.1_Missense_Mutation_p.E327K|SPAM1_ENST00000223028.7_Missense_Mutation_p.E327K|SPAM1_ENST00000460182.1_Missense_Mutation_p.E327K|SPAM1_ENST00000402183.2_Missense_Mutation_p.E327K	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	327					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.E327K(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TACATTTGGCGAAACTGTTGC	0.373000													27	22					0	0	0.000878237	0	0
LIG3	3980	broad.mit.edu	37	17	33321311	33321311	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:33321311C>G	ENST00000378526.4	+	9	1605	c.1472C>G	c.(1471-1473)tCc>tGc	p.S491C	LIG3_ENST00000262327.5_Missense_Mutation_p.S491C	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	491					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GCCTGCAAGTCCGTTGAGTAT	0.527000								Other BER factors					20	72					0	0	0.00188189	0	0
EMR2	30817	broad.mit.edu	37	19	14862260	14862260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:14862260C>T	ENST00000315576.3	-	16	2463	c.2012G>A	c.(2011-2013)gGa>gAa	p.G671E	EMR2_ENST00000595839.1_Missense_Mutation_p.G529E|EMR2_ENST00000392965.3_Missense_Mutation_p.G613E|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000346057.1_Missense_Mutation_p.G622E|EMR2_ENST00000596991.2_Missense_Mutation_p.G660E|EMR2_ENST00000353876.1_Missense_Mutation_p.G578E|EMR2_ENST00000601345.1_Missense_Mutation_p.G660E|EMR2_ENST00000594076.1_Missense_Mutation_p.G578E|EMR2_ENST00000594294.1_Missense_Mutation_p.G622E|EMR2_ENST00000392967.2_Missense_Mutation_p.G660E|EMR2_ENST00000353005.1_Missense_Mutation_p.G529E	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	671					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GGAAGGTGTTCCATAAAGGTG	0.483000													23	89					0	0	0.000586117	0	0
GPR116	221395	broad.mit.edu	37	6	46849839	46849839	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:46849839C>T	ENST00000283296.7	-	7	906	c.618G>A	c.(616-618)cgG>cgA	p.R206R	GPR116_ENST00000456426.2_Silent_p.R206R|GPR116_ENST00000362015.4_Silent_p.R206R|GPR116_ENST00000265417.7_Silent_p.R206R	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	206	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CGTAACCCTTCCGGAACTGAA	0.368000													30	44					0	0	0.00209593	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519909	113519909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:113519909C>T	ENST00000284601.3	-	4	1306	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	413					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTGATTTCTCCCATATTTGA	0.403000													15	57					0	0	0.00074312	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378693	114378693	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:114378693G>A	ENST00000312719.5	-	5	1957	c.769C>T	c.(769-771)Cgc>Tgc	p.R257C	HS3ST5_ENST00000411826.1_Missense_Mutation_p.R257C|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	257					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GTGATGAGGCGATCTCCATCG	0.423000													23	28					0	0	0.00278032	0	0
WNK2	65268	broad.mit.edu	37	9	96019389	96019389	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:96019389C>T	ENST00000297954.4	+	10	2350	c.2350C>T	c.(2350-2352)Ccc>Tcc	p.P784S	WNK2_ENST00000395477.2_Missense_Mutation_p.P784S|WNK2_ENST00000395475.2_Missense_Mutation_p.P718S|WNK2_ENST00000427277.2_Missense_Mutation_p.P396S|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.P396S			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	784					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCCACAGGCGCCCCTGCAGCC	0.687000													9	44					0	0	0.00136819	0	0
SV2A	9900	broad.mit.edu	37	1	149885275	149885275	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:149885275C>T	ENST00000369146.3	-	2	608	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	SV2A_ENST00000369145.1_Missense_Mutation_p.E40K	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	40	Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CGGGAATATTCGTCCTGGACT	0.537000													19	119					0	0	0.000958276	0	0
SYT15	83849	broad.mit.edu	37	10	46967500	46967500	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:46967500C>T	ENST00000374323.3	-	3	1323	c.736G>A	c.(736-738)Gag>Aag	p.E246K	SYT15_ENST00000374321.4_Missense_Mutation_p.E193K|SYT15_ENST00000503753.1_Missense_Mutation_p.E193K|SYT15_ENST00000374325.3_Missense_Mutation_p.E193K			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	193	C2 1.			Q -> R (in Ref. 2; BAC85479).		integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						AAGCGCCGCTCATCGGGCAGC	0.612000													15	100					0	0	0.000308642	0	0
RNASEH2A	10535	broad.mit.edu	37	19	12924217	12924217	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:12924217C>T	ENST00000221486.4	+	8	931	c.837C>T	c.(835-837)gcC>gcT	p.A279A		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	279					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						GGTCCCAAGCCCGTCCCCGTT	0.582000													19	42					0	0	0.00152264	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35972511	35972511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:35972511G>A	ENST00000325722.3	-	3	602	c.368C>T	c.(367-369)tCc>tTc	p.S123F		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	123	MANSC.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGAATTGGAGGAGTGTGTCCT	0.502000													28	101					0	0	0.00106085	0	0
MOB3C	148932	broad.mit.edu	37	1	47080746	47080746	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:47080746C>T	ENST00000271139.8	-	1	59	c.3G>A	c.(1-3)atG>atA	p.M1I	MOB3C_ENST00000371940.1_5'UTR|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000319928.3_Intron|MOB3C_ENST00000477318.1_Intron	NM_145279.4	NP_660322.2	Q70IA8	MOL2C_HUMAN	MOB kinase activator 3C	0							metal ion binding										TTCTGCGCTTCATTTGCCATC	0.527000													24	36					0	0	0.00047179	0	0
FOXE3	2301	broad.mit.edu	37	1	47882374	47882374	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:47882374C>T	ENST00000335071.2	+	1	631	c.387C>T	c.(385-387)ttC>ttT	p.F129F		NM_012186.2	NP_036318.1	Q13461	FOXE3_HUMAN	forkhead box E3	129					cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|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			lung(3)|prostate(1)|upper_aerodigestive_tract(1)	5				READ - Rectum adenocarcinoma(2;0.0908)		ACGACTGCTTCGTCAAGGTGC	0.642000													13	51					0	0	0.000308642	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018182	161018182	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:161018182C>T	ENST00000368013.3	-	12	2949	c.2629G>A	c.(2629-2631)Gag>Aag	p.E877K	ARHGAP30_ENST00000368016.3_Intron|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E700K	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	877	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGATTGCCCTCTTTGGCACAG	0.582000													16	88					0	0	0.000422831	0	0
DOT1L	84444	broad.mit.edu	37	19	2226333	2226333	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:2226333C>T	ENST00000398665.3	+	27	3849	c.3813C>T	c.(3811-3813)tcC>tcT	p.S1271S		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1271						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		GCCAGAACTCCCTGTTCACGT	0.687000													6	14					0	0	0.00116845	0	0
ARPP21	10777	broad.mit.edu	37	3	35729321	35729321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:35729321G>A	ENST00000187397.4	+	6	808	c.352G>A	c.(352-354)Gat>Aat	p.D118N	ARPP21_ENST00000444190.1_Missense_Mutation_p.D118N|ARPP21_ENST00000458225.1_Missense_Mutation_p.D118N|ARPP21_ENST00000337271.5_Missense_Mutation_p.D118N|ARPP21_ENST00000417925.1_Missense_Mutation_p.D118N	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	118						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAAAGAAAAGGATAAAAACAA	0.353000													6	12					0	0	0.00198382	0	0
SLC28A1	9154	broad.mit.edu	37	15	85438184	85438184	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:85438184C>T	ENST00000394573.1	+	6	493	c.291C>T	c.(289-291)ttC>ttT	p.F97F	SLC28A1_ENST00000537703.1_Silent_p.F19F|SLC28A1_ENST00000537216.1_Silent_p.F97F|SLC28A1_ENST00000286749.3_Silent_p.F97F|SLC28A1_ENST00000538177.1_Silent_p.F97F|SLC28A1_ENST00000338602.2_Silent_p.F97F|SLC28A1_ENST00000537624.1_Silent_p.F97F	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	97					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCTCTGCCTTCCTGCTGGTGG	0.642000													22	44					0	0	0.00229938	0	0
DGKB	1607	broad.mit.edu	37	7	14880849	14880849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:14880849C>T	ENST00000403951.2	-	2	459	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	DGKB_ENST00000407950.1_Missense_Mutation_p.E14K|DGKB_ENST00000258767.5_Missense_Mutation_p.E14K|DGKB_ENST00000399322.3_Missense_Mutation_p.E14K|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Missense_Mutation_p.E14K|DGKB_ENST00000444700.2_Missense_Mutation_p.E14K|DGKB_ENST00000402815.1_Missense_Mutation_p.E14K			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	14					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGGGAAAATTCCGAAGGGCTG	0.378000													33	14					0	0	0.00128727	0	0
CNBD2	140894	broad.mit.edu	37	20	34618321	34618321	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:34618321G>A	ENST00000373973.3	+	12	1655	c.1482G>A	c.(1480-1482)tgG>tgA	p.W494*	CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Nonsense_Mutation_p.W490*					cyclic nucleotide binding domain containing 2																		AGAACAGCTGGAATATCTTTC	0.537000													33	117					0	0	0.00170553	0	0
RNASEH2A	10535	broad.mit.edu	37	19	12924218	12924218	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:12924218C>T	ENST00000221486.4	+	8	932	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	280					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						GTCCCAAGCCCGTCCCCGTTC	0.577000													18	41					0	0	0.00152264	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599532	136599532	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:136599532C>T	ENST00000531224.1	-	4	739	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	BCLAF1_ENST00000530767.1_Missense_Mutation_p.E163K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E163K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E161K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E161K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E161K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	163					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTTTGTTTTTCCTGAGACCCT	0.433000													6	45					0	0	0.00116845	0	0
PRSS1	5644	broad.mit.edu	37	7	142459835	142459835	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:142459835G>A	ENST00000486171.1	+	4	470	c.453G>A	c.(451-453)acG>acA	p.T151T	PRSS1_ENST00000311737.7_Silent_p.T137T			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	137	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.T137T(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CCACTGGCACGAAGTGCCTCA	0.552000													26	85					0	0	0.000720815	0	0
RCVRN	5957	broad.mit.edu	37	17	9808255	9808255	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:9808255C>T	ENST00000226193.5	-	1	683	c.243G>A	c.(241-243)ctG>ctA	p.L81L		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	81	EF-hand 2.				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						CCTTGAAGTCCAGGGTGCCGT	0.602000													22	15					0	0	0.00188189	0	0
ZNF645	158506	broad.mit.edu	37	X	22291568	22291568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:22291568C>T	ENST00000323684.1	+	1	504	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	154						intracellular	zinc ion binding	p.R154C(1)		cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TGAAAAAGTTCGTCCTCATAT	0.448000													32	32					0	0	0.00209593	0	0
RP1	6101	broad.mit.edu	37	8	55540730	55540730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:55540730G>A	ENST00000220676.1	+	4	4436	c.4288G>A	c.(4288-4290)Gat>Aat	p.D1430N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1430					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAAGTTTCAGGATGAAAATGC	0.373000													14	32					0	0	0.00244969	0	0
AP3D1	8943	broad.mit.edu	37	19	2111297	2111297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:2111297G>A	ENST00000355272.6	-	26	3178	c.2972C>T	c.(2971-2973)tCc>tTc	p.S991F	AP3D1_ENST00000356926.4_Missense_Mutation_p.S888F|AP3D1_ENST00000350812.6_Missense_Mutation_p.S760F|AP3D1_ENST00000345016.5_Missense_Mutation_p.S929F	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	929					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		TTTAACATAGGAATTTTCAGC	0.612000													8	52					0	0	0.000673444	0	0
SCNN1B	6338	broad.mit.edu	37	16	23366796	23366796	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:23366796G>A	ENST00000343070.2	+	4	938	c.762G>A	c.(760-762)gaG>gaA	p.E254E	SCNN1B_ENST00000568085.1_Silent_p.E254E|SCNN1B_ENST00000568923.1_Silent_p.E227E|SCNN1B_ENST00000307331.5_Silent_p.E299E	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	254					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TCGGAGCTGAGCCCTGCAACT	0.627000													12	27					0	0	0.00185496	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318758	30318758	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:30318758G>A	ENST00000375377.1	-	3	420	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	107										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CCAGTCGGGGGATGAGAGGAC	0.532000													13	20					0	0	0.00136819	0	0
RLBP1	6017	broad.mit.edu	37	15	89761846	89761846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:89761846C>T	ENST00000268125.5	-	4	530	c.91G>A	c.(91-93)Gga>Aga	p.G31R		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	31					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	AAGACAGGTCCATGGTCCTTG	0.602000													5	37					0	0	0.000602214	0	0
CACNA1C	775	broad.mit.edu	37	12	2224609	2224609	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:2224609A>G	ENST00000399655.1	+	2	534	c.269A>G	c.(268-270)aAg>aGg	p.K90R	CACNA1C_ENST00000399617.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000399644.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000399597.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000399649.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000399601.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000344100.3_Missense_Mutation_p.K90R|CACNA1C_ENST00000327702.7_Missense_Mutation_p.K90R|CACNA1C_ENST00000399638.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000399606.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000399641.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000480911.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000406454.3_Missense_Mutation_p.K90R|CACNA1C_ENST00000347598.4_Missense_Mutation_p.K90R|CACNA1C_ENST00000399637.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000399603.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000399591.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000399595.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000399621.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000399629.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000402845.3_Missense_Mutation_p.K90R|CACNA1C_ENST00000399634.1_Missense_Mutation_p.K90R|CACNA1C_ENST00000335762.5_Missense_Mutation_p.K90R	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	90					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGGAAACCCAAGAAGCAGGGC	0.647000													17	32					0	0	0.000566183	0	0
RAB35	11021	broad.mit.edu	37	12	120536901	120536901	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:120536901G>A	ENST00000229340.5	-	4	473	c.285C>T	c.(283-285)tcC>tcT	p.S95S	RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000534951.1_Silent_p.S95S	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	95					cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		CGTTGACAAAGGACTCGGCAC	0.577000													15	47					0	0	0.000308642	0	0
TTLL2	83887	broad.mit.edu	37	6	167754223	167754223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:167754223C>T	ENST00000239587.5	+	3	923	c.835C>T	c.(835-837)Cgg>Tgg	p.R279W		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	279	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGGGTTGGTTCGGTTTGCCAC	0.398000													60	76					0	0	0.000781405	0	0
TCF3	6929	broad.mit.edu	37	19	1615671	1615671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:1615671G>A	ENST00000395423.3	-	14	1474	c.1447C>T	c.(1447-1449)Cct>Tct	p.P483S	TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000588136.1_Intron			P15923	TFE2_HUMAN	transcription factor 3	528		Breakpoint for translocation to form TCF3-PBX1 oncogene.			B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		GAGTGCCGAGGGGTGGGTTGG	0.687000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								46	37					0	0	0.000781405	0	0
APOB	338	broad.mit.edu	37	2	21225916	21225916	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:21225916G>A	ENST00000233242.1	-	29	12505	c.12378C>T	c.(12376-12378)atC>atT	p.I4126I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4126					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACCTCACGTCGATATCATCAA	0.502000													99	324					0	0	0.000781405	0	0
AOC1	26	broad.mit.edu	37	7	150558147	150558147	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:150558147C>T	ENST00000493429.1	+	7	2690	c.2106C>T	c.(2104-2106)ttC>ttT	p.F702F	AOC1_ENST00000360937.4_Silent_p.F702F|AOC1_ENST00000467291.1_Silent_p.F702F|AOC1_ENST00000416793.2_Silent_p.F721F|AOC1_ENST00000480582.1_3'UTR					amine oxidase, copper containing 1																		TCAACTTCTTCCCAGAGGACC	0.617000													22	44					0	0	0.00278032	0	0
PRDM16	63976	broad.mit.edu	37	1	3342733	3342733	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:3342733C>T	ENST00000378398.3	+	15	3310	c.3228C>T	c.(3226-3228)atC>atT	p.I1076I	PRDM16_ENST00000442529.2_Silent_p.I1075I|PRDM16_ENST00000441472.2_Silent_p.I1075I|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Silent_p.I1076I|PRDM16_ENST00000270722.5_Silent_p.I1076I|PRDM16_ENST00000514189.1_Silent_p.I1076I|PRDM16_ENST00000511072.1_Silent_p.I1077I			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1076	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TCTCGGAAATCAGAAACTTTA	0.507000			T	EVI1	"""MDS, AML"""								12	84					0	0	0.00244969	0	0
TPCN1	53373	broad.mit.edu	37	12	113729446	113729446	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:113729446C>T	ENST00000550785.1	+	25	2377	c.2208C>T	c.(2206-2208)agC>agT	p.S736S	TPCN1_ENST00000392569.4_Silent_p.S596S|TPCN1_ENST00000335509.6_Silent_p.S664S|TPCN1_ENST00000541517.1_Silent_p.S736S	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	664						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CCCACTGGAGCCGCCTCTACT	0.597000													3	8					0	0	0.00024832	0	0
PPP3R2	5535	broad.mit.edu	37	9	104356958	104356958	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:104356958G>A	ENST00000374806.1	-	1	325	c.255C>T	c.(253-255)ttC>ttT	p.F85F	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	82	EF-hand 2.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	CCTTGACGCTGAACTGGGAGG	0.552000													58	85					0	0	0.000781405	0	0
USH2A	7399	broad.mit.edu	37	1	215933013	215933013	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:215933013C>T	ENST00000366943.2	-	57	11606	c.11220G>A	c.(11218-11220)gaG>gaA	p.E3740E	USH2A_ENST00000307340.3_Silent_p.E3740E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3740	Fibronectin type-III 22.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGCTATTGGGCTCCAGGTTTT	0.408000										HNSCC(13;0.011)			8	58					0	0	0.000274275	0	0
MUC16	94025	broad.mit.edu	37	19	9046168	9046168	+	Silent	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9046168A>C	ENST00000397910.4	-	5	35666	c.35463T>G	c.(35461-35463)tcT>tcG	p.S11821S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11823	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTGAAGAGAGAGGATGTTG	0.493000													20	22					0	0	0.00121646	0	0
SLFN13	146857	broad.mit.edu	37	17	33772624	33772624	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:33772624G>A	ENST00000285013.6	-	3	351	c.76C>T	c.(76-78)Ctg>Ttg	p.L26L	SLFN13_ENST00000533791.1_Silent_p.L26L|SLFN13_ENST00000526861.1_Silent_p.L26L|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000542635.1_Silent_p.L26L|SLFN13_ENST00000360502.2_Intron	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	26						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCTTCTCCCAGAGTCACTTCT	0.473000													40	26					0	0	0.00170553	0	0
ABCC3	8714	broad.mit.edu	37	17	48746588	48746588	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:48746588G>A	ENST00000285238.8	+	16	2105	c.2025G>A	c.(2023-2025)ctG>ctA	p.L675L		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	675	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CTGCCCTGCTGGGAGAGATGG	0.652000													24	22					0	0	0.00047179	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128887159	128887159	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:128887159T>A	ENST00000371106.3	+	11	1234	c.1042T>A	c.(1042-1044)Tcc>Acc	p.S348T		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	348					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AGACACCTACTCCCCAGTGAT	0.582000													35	52					0	0	0.00222228	0	0
PROCR	10544	broad.mit.edu	37	20	33764091	33764091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:33764091C>T	ENST00000216968.4	+	3	525	c.443C>T	c.(442-444)gCc>gTc	p.A148V	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	148					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	CCGGAGAGAGCCTTGTGGCAG	0.592000													64	36					0	0	0.000781405	0	0
PREP	5550	broad.mit.edu	37	6	105771585	105771585	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:105771585C>T	ENST00000369110.3	-	10	1464	c.1272G>A	c.(1270-1272)gaG>gaA	p.E424E		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	424					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TTACGGTCACCTCTCGGAAAA	0.418000													17	19					0	0	0.00229938	0	0
ROBO2	6092	broad.mit.edu	37	3	77657030	77657030	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:77657030C>T	ENST00000461745.1	+	21	4118	c.3218C>T	c.(3217-3219)cCt>cTt	p.P1073L	ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Missense_Mutation_p.P1073L|ROBO2_ENST00000487694.3_Missense_Mutation_p.P1089L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1073					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCCAATGTCCCTCTACCTCCC	0.423000													19	59					0	0	0.00121646	0	0
FNDC1	84624	broad.mit.edu	37	6	159660606	159660606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:159660606G>A	ENST00000297267.9	+	14	4438	c.4238G>A	c.(4237-4239)cGa>cAa	p.R1413Q	FNDC1_ENST00000340366.6_Missense_Mutation_p.R1350Q	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1413						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGGCAGGGGCGACATGGCACA	0.532000													6	8					0	0	0.00198382	0	0
WDR96	80217	broad.mit.edu	37	10	105893452	105893452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:105893452C>T	ENST00000357060.3	-	35	4637	c.4522G>A	c.(4522-4524)Gag>Aag	p.E1508K	WDR96_ENST00000428666.1_Missense_Mutation_p.E1480K|WDR96_ENST00000479392.1_5'UTR	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1508										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTTTCCATCTCCATTTTCTTA	0.358000													16	24					0	0	0.000422831	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52902464	52902464	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:52902464C>T	ENST00000371544.3	-	26	4384	c.4122G>A	c.(4120-4122)gaG>gaA	p.E1374E	ZCCHC11_ENST00000257177.4_Silent_p.E1375E	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1374					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CCAGCTTGACCTCTGGGCACT	0.488000													153	186					0	0	0.000781405	0	0
C10orf12	26148	broad.mit.edu	37	10	98744594	98744594	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:98744594C>T	ENST00000286067.2	+	1	3554	c.3447C>T	c.(3445-3447)atC>atT	p.I1149I		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1149										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAGTGAAGATCCCTAAAAAGT	0.502000													10	26					0	0	0.000978159	0	0
ABCA1	19	broad.mit.edu	37	9	107564394	107564394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:107564394G>A	ENST00000374736.3	-	34	5033	c.4639C>T	c.(4639-4641)Ccg>Tcg	p.P1547S		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1547					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCTTGACTCGGAGGAAGTGCT	0.423000													45	47					0	0	0.000781405	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039788	36039788	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:36039788T>C	ENST00000282507.3	-	5	967	c.866A>G	c.(865-867)aAg>aGg	p.K289R	UGT3A2_ENST00000504954.1_5'UTR|UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000513300.1_Missense_Mutation_p.K255R	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	289						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTCCCCAAACTTGGCAATGAA	0.448000													11	37					0	0	0.00136819	0	0
GPRASP1	9737	broad.mit.edu	37	X	101909135	101909135	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:101909135C>T	ENST00000537097.1	+	6	1107	c.294C>T	c.(292-294)ccC>ccT	p.P98P	GPRASP1_ENST00000415986.1_Silent_p.P98P|GPRASP1_ENST00000444152.1_Silent_p.P98P|GPRASP1_ENST00000361600.5_Silent_p.P98P|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	98						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGGCTCAGCCCAGGTTTGGTG	0.478000													125	6					0	0	0.000781405	0	0
NTNG1	22854	broad.mit.edu	37	1	108023381	108023381	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:108023381C>T	ENST00000370067.1	+	7	1929	c.1302C>T	c.(1300-1302)ggC>ggT	p.G434G	NTNG1_ENST00000370070.2_Silent_p.G434G|NTNG1_ENST00000370074.4_Silent_p.G412G|NTNG1_ENST00000370068.1_Silent_p.G513G|NTNG1_ENST00000370061.3_Silent_p.G479G|NTNG1_ENST00000542803.1_Silent_p.G513G|NTNG1_ENST00000370071.2_Silent_p.G454G|NTNG1_ENST00000370073.2_Silent_p.G513G|NTNG1_ENST00000370072.3_Silent_p.G468G|NTNG1_ENST00000370066.1_Silent_p.G454G|NTNG1_ENST00000370065.1_Silent_p.G468G			Q9Y2I2	NTNG1_HUMAN	netrin G1	513	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CCGACTCTGGCCAGGGCGCGC	0.706000													15	23					0	0	0.00244969	0	0
CFH	3075	broad.mit.edu	37	1	196706692	196706692	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:196706692C>T	ENST00000367429.4	+	17	2924	c.2684C>T	c.(2683-2685)aCt>aTt	p.T895I		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	895	Sushi 15.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GCACATGGGACTAAATTGAGT	0.383000													7	36					0	0	0.00198382	0	0
ITGA11	22801	broad.mit.edu	37	15	68642958	68642958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:68642958C>T	ENST00000423218.2	-	9	1152	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	ITGA11_ENST00000315757.7_Missense_Mutation_p.E353K			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	353					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TGCTTACCTTCCAGGCTGAAG	0.507000													27	13					0	0	0.00106085	0	0
BAX	581	broad.mit.edu	37	19	49459483	49459483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:49459483C>T	ENST00000293288.8	+	4	262	c.262C>T	c.(262-264)Ccc>Tcc	p.P88S	BAX_ENST00000345358.7_Missense_Mutation_p.P88S|BAX_ENST00000539787.1_Missense_Mutation_p.P88S|BAX_ENST00000391871.3_3'UTR|BAX_ENST00000415969.2_Missense_Mutation_p.P88S|BAX_ENST00000354470.3_Missense_Mutation_p.P39S	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	88					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		CACAGACTCCCCCCGAGAGGT	0.577000													22	95					0	0	0.00106085	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145473767	145473767	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:145473767G>A	ENST00000323397.4	+	4	1732	c.439G>A	c.(439-441)Gat>Aat	p.D147N		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	147										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CATCACCACCGATACCTCGCC	0.647000													18	47					0	0	0.000958276	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618646	77618646	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:77618646G>A	ENST00000521891.2	+	2	2771	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E775K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E775K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E775K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	775						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTGTGATTATGAAACCAATGT	0.507000										HNSCC(33;0.089)			9	17					0	0	0.000673444	0	0
DDX60	55601	broad.mit.edu	37	4	169188838	169188838	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:169188838G>A	ENST00000393743.3	-	22	3225	c.2934C>T	c.(2932-2934)ctC>ctT	p.L978L		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	978							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TCTCTCCATAGAGCACTAAAA	0.348000													17	43					0	0	0.000958276	0	0
WDR90	197335	broad.mit.edu	37	16	716970	716970	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:716970C>T	ENST00000549091.1	+	40	5168	c.5076C>T	c.(5074-5076)ctC>ctT	p.L1692L	WDR90_ENST00000293879.4_Silent_p.L1690L|WDR90_ENST00000315764.4_Silent_p.L241L|WDR90_ENST00000547944.1_Silent_p.L289L	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1690										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGACCCACCTCCTGGCTGTTG	0.617000													4	8					0	0	0.000602214	0	0
CFAP221	200373	broad.mit.edu	37	2	120369265	120369265	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:120369265C>T	ENST00000602047.1	+	14	1512	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	PCDP1_ENST00000413369.3_Nonsense_Mutation_p.Q420*|PCDP1_ENST00000597189.1_3'UTR			Q4G0U5	PCDP1_HUMAN		420						cilium	calmodulin binding					Colorectal(110;0.196)					TGAGGAATTTCAGCGACTTAA	0.333000													12	58					0	0	0.00244969	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502037	90502037	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:90502037G>A	ENST00000325643.5	+	4	2701	c.2635G>A	c.(2635-2637)Gcc>Acc	p.A879T		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		TACCCCCTGGGCCTCCTGGGT	0.562000													16	23					0	0	0.000566183	0	0
TTC13	79573	broad.mit.edu	37	1	231048465	231048465	+	Silent	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:231048465C>A	ENST00000366661.4	-	19	2140	c.2133G>T	c.(2131-2133)acG>acT	p.T711T	TTC13_ENST00000366662.4_Silent_p.T657T|TTC13_ENST00000414259.1_Silent_p.T658T	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	711							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCCTTTCTTCCGTGGTTTGAG	0.323000													7	230					0.00198382	0.00723911	0.00198382	1	0
TRBV6-8	28599	broad.mit.edu	37	7	142124529	142124529	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:142124529G>A	ENST00000390376.2	-	0	36																											GCCCACAGGAGAGAAAAGGCC	0.602000													23	68					0	0	0.000720815	0	0
PKHD1	5314	broad.mit.edu	37	6	51503726	51503726	+	Silent	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:51503726A>C	ENST00000371117.3	-	64	11702	c.11427T>G	c.(11425-11427)ggT>ggG	p.G3809G		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3809					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGCTAACATAACCATCTTGAG	0.383000													39	62					0	0	0.00222228	0	0
LHCGR	3973	broad.mit.edu	37	2	48952827	48952827	+	Missense_Mutation	SNP	C	C	T	rs140788691	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:48952827C>T	ENST00000294954.7	-	4	392	c.371G>A	c.(370-372)cGa>cAa	p.R124Q	LHCGR_ENST00000344775.3_Missense_Mutation_p.R124Q|LHCGR_ENST00000405626.1_Missense_Mutation_p.R124Q|LHCGR_ENST00000403273.1_Missense_Mutation_p.R124Q|LHCGR_ENST00000401907.1_Missense_Mutation_p.R124Q|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	124				R -> G (in Ref. 1; AAA59515 and 4; CAA59234).	male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GTATTTTAATCGGGGAAGATT	0.368000													69	61					0	0	0.000781405	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122173	12122173	+	Silent	SNP	C	C	T	rs34746669		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:12122173C>T	ENST00000379388.2	+	4	2477	c.2145C>T	c.(2143-2145)acC>acT	p.T715T		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	715					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTCTTGTCACCACGTCAACAC	0.527000													9	38					0	0	0.000978159	0	0
OR13F1	138805	broad.mit.edu	37	9	107266990	107266990	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:107266990G>A	ENST00000334726.2	+	1	536	c.447G>A	c.(445-447)tgG>tgA	p.W149*		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGGCTCCTGGATGACAGGCT	0.493000													56	70					0	0	0.000781405	0	0
RANBP17	64901	broad.mit.edu	37	5	170345744	170345744	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:170345744G>A	ENST00000523189.1	+	10	1146	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	328					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TAATTATCATGAATTTTGTCG	0.323000			T	TRD@	ALL								12	37					0	0	0.00244969	0	0
IL18R1	8809	broad.mit.edu	37	2	102984507	102984507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:102984507G>A	ENST00000409599.1	+	4	637	c.281G>A	c.(280-282)gGa>gAa	p.G94E	IL18R1_ENST00000334376.3_Missense_Mutation_p.G94E|IL18R1_ENST00000233957.1_Missense_Mutation_p.G94E			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	94	Ig-like C2-type 1.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AATGACACAGGATCTTACTTT	0.408000													33	124					0	0	0.000953801	0	0
PLA2G3	50487	broad.mit.edu	37	22	31536039	31536039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:31536039C>T	ENST00000215885.3	-	1	554	c.302G>A	c.(301-303)gGa>gAa	p.G101E		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	101					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CAGCTCGGGTCCGGGGGTGTG	0.632000													62	11					0	0	0.000781405	0	0
PPFIA2	8499	broad.mit.edu	37	12	81747075	81747075	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:81747075A>C	ENST00000550584.2	-	16	2112	c.1817T>G	c.(1816-1818)aTt>aGt	p.I606S	PPFIA2_ENST00000549396.1_Missense_Mutation_p.I606S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.I453S|PPFIA2_ENST00000541570.2_Missense_Mutation_p.I173S|PPFIA2_ENST00000548586.1_Missense_Mutation_p.I606S|PPFIA2_ENST00000549325.1_Missense_Mutation_p.I588S|PPFIA2_ENST00000443686.3_Missense_Mutation_p.I507S|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000552948.1_Missense_Mutation_p.I606S|PPFIA2_ENST00000407050.4_Missense_Mutation_p.I532S|PPFIA2_ENST00000333447.7_Missense_Mutation_p.I588S	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	532										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TAGTACTCCAATCTGTTGAGT	0.363000													17	44					0	0	0.000958276	0	0
PXDNL	137902	broad.mit.edu	37	8	52384783	52384783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:52384783C>T	ENST00000356297.4	-	8	876	c.776G>A	c.(775-777)gGa>gAa	p.G259E	PXDNL_ENST00000543296.1_Missense_Mutation_p.G259E	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	259	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTTGGGGTTTCCTTCCGCCCG	0.443000													19	78					0	0	0.00188189	0	0
VPS13D	55187	broad.mit.edu	37	1	12401849	12401849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:12401849C>T	ENST00000358136.3	+	41	8769	c.8639C>T	c.(8638-8640)aCc>aTc	p.T2880I	VPS13D_ENST00000356315.4_Missense_Mutation_p.T2855I	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2879					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAGGTGAAAACCCCCAAGCGC	0.572000													29	125					0	0	0.00283554	0	0
NYAP2	57624	broad.mit.edu	37	2	226378191	226378191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:226378191C>T	ENST00000272907.6	+	3	739	c.326C>T	c.(325-327)cCt>cTt	p.P109L	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	109																	CTTCCCCATCCTTGCTCCAGT	0.562000													10	31					0	0	0.000673444	0	0
TTLL7	79739	broad.mit.edu	37	1	84386789	84386789	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:84386789G>A	ENST00000260505.8	-	12	1722	c.1345C>T	c.(1345-1347)Cga>Tga	p.R449*	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	449					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CCCATATGTCGATTTTCATGT	0.323000													11	49					0	0	0.00136819	0	0
TPSAB1	7177	broad.mit.edu	37	16	1291234	1291234	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:1291234C>T	ENST00000461509.2	+	2	357	c.163C>T	c.(163-165)Ctg>Ttg	p.L55L	TPSAB1_ENST00000338844.3_Silent_p.L48L			P20231	TRYB2_HUMAN	tryptase alpha/beta 1	48	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				GCAGGTGAGCCTGAGAGTCCA	0.697000													18	46					0	0	0.00121646	0	0
SGK223	157285	broad.mit.edu	37	8	8234125	8234125	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:8234125C>T	ENST00000520004.1	-	3	2058	c.1794G>A	c.(1792-1794)cgG>cgA	p.R598R	SGK223_ENST00000330777.4_Silent_p.R598R			Q86YV5	SG223_HUMAN		598							ATP binding|non-membrane spanning protein tyrosine kinase activity										CACCGTTGGTCCGGCAGGAAG	0.662000													40	16					0	0	0.000781405	0	0
CYP11B2	1585	broad.mit.edu	37	8	143994724	143994724	+	Silent	SNP	C	C	T	rs61757297	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:143994724C>T	ENST00000323110.2	-	6	1100	c.1098G>A	c.(1096-1098)cgG>cgA	p.R366R		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	366					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	TGAGGGCCGCCCGCAGCAAGG	0.692000									Familial Hyperaldosteronism type I				32	29					0	0	0.000781405	0	0
CACNA1B	774	broad.mit.edu	37	9	140943685	140943685	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:140943685C>T	ENST00000277549.5	+	24	3773	c.1204C>T	c.(1204-1206)Cac>Tac	p.H402Y	CACNA1B_ENST00000371355.4_Missense_Mutation_p.H1211Y|CACNA1B_ENST00000545473.1_3'UTR|CACNA1B_ENST00000371357.1_Missense_Mutation_p.H1211Y|CACNA1B_ENST00000371363.1_Missense_Mutation_p.H1210Y|CACNA1B_ENST00000371372.1_Missense_Mutation_p.H1210Y|CACNA1B_ENST00000277551.2_Missense_Mutation_p.H1210Y			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1210					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	ACTGCTGCTTCACCCTGGAGC	0.527000													17	76					0	0	0.00278032	0	0
CC2D1A	54862	broad.mit.edu	37	19	14037683	14037683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:14037683C>T	ENST00000318003.7	+	20	2364	c.2123C>T	c.(2122-2124)cCt>cTt	p.P708L	CC2D1A_ENST00000589606.1_Missense_Mutation_p.P708L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	708	C2.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			ACAGACTCCCCTGGTGAGCCT	0.562000													18	48					0	0	0.00152264	0	0
CSNK1D	1453	broad.mit.edu	37	17	80210338	80210338	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:80210338G>A	ENST00000314028.6	-	5	1057	c.708C>T	c.(706-708)ccC>ccT	p.P236P	CSNK1D_ENST00000578904.1_5'UTR|CSNK1D_ENST00000398519.5_Silent_p.P236P|CSNK1D_ENST00000392334.2_Silent_p.P236P	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	236	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			ACACTTCGATGGGGGTGGACA	0.537000													67	203					0	0	0.000781405	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68265132	68265132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:68265132G>A	ENST00000347230.4	-	11	1985	c.1847C>T	c.(1846-1848)cCa>cTa	p.P616L	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P616L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	616					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCTCTCTGATGGGGACCTCAA	0.537000													17	43					0	0	0.000566183	0	0
MXRA5	25878	broad.mit.edu	37	X	3238709	3238709	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:3238709G>A	ENST00000217939.6	-	5	5171	c.5017C>T	c.(5017-5019)Cct>Tct	p.P1673S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1673						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AATGGGAGAGGAATTGTTGTA	0.413000													80	72					0	0	0.000781405	0	0
SEC11C	90701	broad.mit.edu	37	18	56819910	56819910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:56819910C>T	ENST00000587834.1	+	3	812	c.340C>T	c.(340-342)Cat>Tat	p.H114Y	SEC11C_ENST00000588875.1_Missense_Mutation_p.H114Y	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	114					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				AATCAAAGTTCATGAAAAGTA	0.343000													23	89					0	0	0.00047179	0	0
CACNG2	10369	broad.mit.edu	37	22	36960716	36960716	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:36960716G>A	ENST00000300105.6	-	4	1635	c.654C>T	c.(652-654)ctC>ctT	p.L218L		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	218					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						CAGAGGCCTGGAGGTAGTCCG	0.677000													44	421					0	0	0.000781405	0	0
DNAH7	56171	broad.mit.edu	37	2	196681528	196681528	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:196681528C>T	ENST00000312428.6	-	51	9685	c.9585G>A	c.(9583-9585)aaG>aaA	p.K3195K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3195					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.K3195N(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGGTGTCAATCTTTTTCTCTG	0.418000													47	57					0	0	0.000781405	0	0
PRX	57716	broad.mit.edu	37	19	40900623	40900623	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:40900623C>T	ENST00000324001.7	-	7	3906	c.3636G>A	c.(3634-3636)aaG>aaA	p.K1212K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1212	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGGTGGGCATCTTAAAGACAC	0.662000													22	63					0	0	0.00278032	0	0
DDX27	55661	broad.mit.edu	37	20	47845304	47845304	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:47845304C>T	ENST00000371764.4	+	8	861	c.852C>T	c.(850-852)ccC>ccT	p.P284P	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	284	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTTATAAACCCCGCCAGGCTC	0.577000													43	140					0	0	0.000680045	0	0
PDE6C	5146	broad.mit.edu	37	10	95400711	95400711	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:95400711A>T	ENST00000371447.3	+	14	1910	c.1772A>T	c.(1771-1773)gAa>gTa	p.E591V		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	591					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				ACAGATCTCGAAGCCTTTGCC	0.348000													13	18					0	0	0.000308642	0	0
PRKG1	5592	broad.mit.edu	37	10	54040554	54040554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:54040554C>T	ENST00000373980.4	+	13	1826	c.1409C>T	c.(1408-1410)tCg>tTg	p.S470L	PRKG1_ENST00000401604.2_Missense_Mutation_p.S455L|PRKG1_ENST00000373975.2_Missense_Mutation_p.S173L|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.S443L|PRKG1-AS1_ENST00000452247.2_RNA	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	455	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CTCAGAGGTTCGTTTGAAGAT	0.343000													9	8					0	0	0.000978159	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900290	112900290	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:112900290C>T	ENST00000374530.3	+	8	2646	c.2466C>T	c.(2464-2466)tcC>tcT	p.S822S	AKAP2_ENST00000259318.7_Silent_p.S591S|AKAP2_ENST00000510514.5_Silent_p.S822S|AKAP2_ENST00000374525.1_Silent_p.S680S|AKAP2_ENST00000434623.2_Silent_p.S680S|PALM2-AKAP2_ENST00000302798.7_Silent_p.S822S|AKAP2_ENST00000555236.1_Silent_p.S822S	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		591							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AAGCTGTGTCCAAAACCAGCA	0.542000													6	32					0	0	0.00116845	0	0
SEMA4A	64218	broad.mit.edu	37	1	156132739	156132739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:156132739G>A	ENST00000368285.3	+	10	1255	c.988G>A	c.(988-990)Gtt>Att	p.V330I	SEMA4A_ENST00000368282.1_Missense_Mutation_p.V330I|SEMA4A_ENST00000368286.2_Missense_Mutation_p.V198I|SEMA4A_ENST00000368284.1_Missense_Mutation_p.V198I|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000355014.2_Missense_Mutation_p.V330I	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	330	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CTCCAGGCAGGTTGGCGGGAC	0.537000													52	62					0	0	0.000781405	0	0
KLF7	8609	broad.mit.edu	37	2	207988671	207988671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:207988671G>A	ENST00000309446.6	-	2	936	c.560C>T	c.(559-561)gCc>gTc	p.A187V	KLF7_ENST00000423015.1_Intron|KLF7_ENST00000467833.1_Intron|KLF7_ENST00000421199.1_Missense_Mutation_p.A154V|KLF7_ENST00000412414.2_Missense_Mutation_p.A159V|KLF7_ENST00000458272.1_Intron	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	187					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		AGCCGTCACGGCTGCTGCAGC	0.612000													20	78					0	0	0.00152264	0	0
HERC3	8916	broad.mit.edu	37	4	89628082	89628082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:89628082G>A	ENST00000402738.1	+	26	3363	c.3124G>A	c.(3124-3126)Gac>Aac	p.D1042N	HERC3_ENST00000264345.3_Missense_Mutation_p.D1042N|HERC3_ENST00000543130.1_Missense_Mutation_p.D486N	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	1042	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CCAGGCCCTTGACAACTATGA	0.517000											OREG0016265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	25					0	0	0.00244969	0	0
ARSF	416	broad.mit.edu	37	X	3030406	3030406	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:3030406G>A	ENST00000381127.1	+	11	1803	c.1582G>A	c.(1582-1584)Gat>Aat	p.D528N	ARSF_ENST00000359361.2_Missense_Mutation_p.D528N|ARSF_ENST00000537104.1_Missense_Mutation_p.D528N	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	528						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCCCTCCATGATTTTGTGAT	0.557000													44	1					0	0	0.00285205	0	0
ESR1	2099	broad.mit.edu	37	6	152382133	152382133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:152382133G>A	ENST00000440973.1	+	8	1613	c.1243G>A	c.(1243-1245)Gga>Aga	p.G415R	ESR1_ENST00000443427.1_Missense_Mutation_p.G415R|ESR1_ENST00000206249.3_Missense_Mutation_p.G415R|ESR1_ENST00000406599.1_Missense_Mutation_p.G154R|ESR1_ENST00000544394.1_Missense_Mutation_p.G242R|ESR1_ENST00000338799.5_Missense_Mutation_p.G415R|ESR1_ENST00000456483.2_Missense_Mutation_p.G303R	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	415	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	TAGGAACCAGGGAAAATGTGT	0.383000													9	3					0	0	0.000274275	0	0
DSC1	1823	broad.mit.edu	37	18	28720073	28720073	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:28720073G>A	ENST00000257197.3	-	10	1713	c.1452C>T	c.(1450-1452)ttC>ttT	p.F484F	DSC1_ENST00000257198.5_Silent_p.F484F|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	484	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GGCCAGCTGGGAAGCCATCTT	0.443000													12	80					0	0	0.00185496	0	0
MCF2L2	23101	broad.mit.edu	37	3	182925542	182925542	+	Missense_Mutation	SNP	G	G	A	rs148585637		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:182925542G>A	ENST00000328913.3	-	23	2863	c.2566C>T	c.(2566-2568)Cgt>Tgt	p.R856C	MCF2L2_ENST00000473233.1_Missense_Mutation_p.R856C	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	856	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ATTTTATAACGATCCTTGTGA	0.428000													22	46					0	0	0.00229938	0	0
LALBA	3906	broad.mit.edu	37	12	48963728	48963728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:48963728C>T	ENST00000549817.1	-	1	121	c.76G>A	c.(76-78)Gag>Aag	p.E26K	LALBA_ENST00000301046.2_Missense_Mutation_p.E26K			P00709	LALBA_HUMAN	lactalbumin, alpha-	26					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						TGGGACAGCTCACATTTTGTG	0.498000													36	18					0	0	0.000692331	0	0
OR4K5	79317	broad.mit.edu	37	14	20389615	20389615	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:20389615C>A	ENST00000315915.4	+	1	875	c.850C>A	c.(850-852)Ccc>Acc	p.P284T		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CGTCCTAAACCCCATTATTTA	0.408000													12	93					1.08611e-07	3.99659e-07	0.000978159	1	0
NOTCH4	4855	broad.mit.edu	37	6	32163318	32163318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:32163318G>A	ENST00000375023.3	-	30	6046	c.5908C>T	c.(5908-5910)Cct>Tct	p.P1970S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1970					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTAAGGCAAGGAGGCGGGATC	0.617000													131	147					0	0	0.000781405	0	0
PEG3	5178	broad.mit.edu	37	19	57328555	57328555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:57328555C>T	ENST00000326441.9	-	10	1618	c.1255G>A	c.(1255-1257)Ggt>Agt	p.G419S	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G293S|PEG3_ENST00000423103.2_Missense_Mutation_p.G419S|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G295S|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	419					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)		ATCTCACTACCACATTCAAAG	0.498000													33	127					0	0	0.00283554	0	0
C8A	731	broad.mit.edu	37	1	57347218	57347218	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:57347218C>T	ENST00000361249.3	+	5	661	c.565C>T	c.(565-567)Cga>Tga	p.R189*		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	189	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAGGGAGCTTCGATATGACTC	0.453000													15	29					0	0	0.00074312	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021937	51021937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:51021937C>T	ENST00000599957.1	-	3	1230	c.1033G>A	c.(1033-1035)Ggc>Agc	p.G345S	LRRC4B_ENST00000389201.3_Missense_Mutation_p.G345S			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	345	LRRCT.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCCTTGAGGCCGGCGGGCGCA	0.667000													7	38					0	0	0.000157383	0	0
ZNF470	388566	broad.mit.edu	37	19	57089701	57089701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:57089701C>T	ENST00000330619.8	+	6	2590	c.1904C>T	c.(1903-1905)tCc>tTc	p.S635F	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.S635F	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CATCGTAAATCCCTTACTCTG	0.423000													7	25					0	0	0.00198382	0	0
AMOT	154796	broad.mit.edu	37	X	112022744	112022744	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:112022744G>A	ENST00000371959.3	-	10	2637	c.2638C>T	c.(2638-2640)Ccc>Tcc	p.P880S	AMOT_ENST00000304758.1_Missense_Mutation_p.P471S|AMOT_ENST00000524145.1_Missense_Mutation_p.P880S|AMOT_ENST00000371962.1_Missense_Mutation_p.P648S	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	880					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						acagagatgggagcaacagct	0.597000													9	8					0	0	0.000442599	0	0
OR2L8	391190	broad.mit.edu	37	1	248112603	248112603	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:248112603G>A	ENST00000357191.3	+	1	444	c.444G>A	c.(442-444)tgG>tgA	p.W148*	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CAGGGTCTTGGATCATAGGCT	0.443000													65	118					0	0	0.000781405	0	0
CYFIP2	26999	broad.mit.edu	37	5	156760402	156760402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:156760402C>T	ENST00000347377.6	+	21	2764	c.2333C>T	c.(2332-2334)tCc>tTc	p.S778F	CYFIP2_ENST00000521420.1_Missense_Mutation_p.S752F|CYFIP2_ENST00000318218.6_Missense_Mutation_p.S803F|CYFIP2_ENST00000442283.2_Missense_Mutation_p.S63F|CYFIP2_ENST00000541131.1_Missense_Mutation_p.S703F|CYFIP2_ENST00000435847.2_Missense_Mutation_p.S477F|CYFIP2_ENST00000522463.1_Missense_Mutation_p.S582F|CYFIP2_ENST00000377576.3_Missense_Mutation_p.S778F	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	803					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGTATAAATCCTTGGACCAA	0.473000													141	295					0	0	0.000781405	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884106	228884106	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:228884106G>A	ENST00000392056.3	-	7	1510	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S	SPHKAP_ENST00000344657.5_Silent_p.S488S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	488						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTTGTCTGCTGGAGTTCTCTC	0.532000													17	41					0	0	0.00074312	0	0
MUC16	94025	broad.mit.edu	37	19	9059164	9059164	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9059164C>T	ENST00000397910.4	-	3	28485	c.28282G>A	c.(28282-28284)Gaa>Aaa	p.E9428K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9430	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTTTTTTTCCACAGACAGC	0.502000													10	55					0	0	0.000978159	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961524	73961524	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:73961524G>A	ENST00000373468.1	-	3	3519	c.2868C>T	c.(2866-2868)acC>acT	p.T956T	KIAA2022_ENST00000055682.5_Silent_p.T956T			Q5QGS0	K2022_HUMAN	KIAA2022	956					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATGGGAGTTGGGTATCTTGCA	0.438000													49	5					0	0	0.000781405	0	0
NPTX1	4884	broad.mit.edu	37	17	78445638	78445638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:78445638C>T	ENST00000306773.4	-	4	1128	c.971G>A	c.(970-972)gGg>gAg	p.G324E		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	324	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CTCCCAGACCCCGTCCCGGGT	0.627000													7	40					0	0	0.00198382	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560008	44560008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:44560008G>A	ENST00000332567.4	-	1	1980	c.1628C>T	c.(1627-1629)gCc>gTc	p.A543V	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	543	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GTCGCTGAGGGCGTCCGGATT	0.607000													91	56					0	0	0.000781405	0	0
MEGF10	84466	broad.mit.edu	37	5	126734473	126734473	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:126734473C>T	ENST00000274473.6	+	8	1032	c.765C>T	c.(763-765)tgC>tgT	p.C255C	MEGF10_ENST00000508365.1_Silent_p.C255C|MEGF10_ENST00000418761.2_Silent_p.C255C|MEGF10_ENST00000503335.2_Silent_p.C255C	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	255	EGF-like 4.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AATGCTCTTGCCCTTCTGGCT	0.517000													35	13					0	0	0.000692331	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232577037	232577037	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:232577037G>A	ENST00000366630.1	-	13	4000	c.3642_splice	c.e13+1	p.H1214_splice	SIPA1L2_ENST00000262861.4_Splice_Site_p.H1214_splice|SIPA1L2_ENST00000308942.4_Splice_Site_p.H288_splice			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1214					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGGACTTACGTGAGAAAGCT	0.493000													118	501					0	0	0.000781405	0	0
E2F8	79733	broad.mit.edu	37	11	19246210	19246210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:19246210G>A	ENST00000527884.1	-	13	2831	c.2599C>T	c.(2599-2601)Cat>Tat	p.H867Y	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.H867Y	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	867					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTTGATTAATGGACATCCTCT	0.378000													15	19					0	0	0.000566183	0	0
PAPLN	89932	broad.mit.edu	37	14	73731413	73731413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:73731413C>T	ENST00000427855.1	+	22	3206	c.3104C>T	c.(3103-3105)tCa>tTa	p.S1035L	PAPLN_ENST00000381166.3_Missense_Mutation_p.S1035L|PAPLN_ENST00000554301.1_Missense_Mutation_p.S1035L|PAPLN_ENST00000340738.5_Missense_Mutation_p.S1008L|PAPLN_ENST00000555445.1_Missense_Mutation_p.S1019L			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1035	Ig-like C2-type 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		ATCCCCTCTTCACACCCACAG	0.657000													29	86					0	0	0.0024448	0	0
SHANK1	50944	broad.mit.edu	37	19	51165595	51165595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:51165595G>A	ENST00000293441.1	-	23	6131	c.6113C>T	c.(6112-6114)tCc>tTc	p.S2038F	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391813.1_Missense_Mutation_p.S1425F|SHANK1_ENST00000359082.3_Missense_Mutation_p.S2029F|SHANK1_ENST00000483981.2_5'UTR|SHANK1_ENST00000391814.1_Missense_Mutation_p.S2046F	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2038					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCCAGTTGGGGAGCCACGGAT	0.701000													5	15					0	0	0.00198382	0	0
ZNF292	23036	broad.mit.edu	37	6	87967944	87967944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:87967944G>A	ENST00000369577.3	+	8	4640	c.4597G>A	c.(4597-4599)Gta>Ata	p.V1533I	ZNF292_ENST00000339907.4_Missense_Mutation_p.V1528I	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAATCCAACTGTACCACCCCT	0.463000													11	5					0	0	0.000978159	0	0
NNT	23530	broad.mit.edu	37	5	43651924	43651924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:43651924C>T	ENST00000264663.5	+	13	2022	c.1801C>T	c.(1801-1803)Cct>Tct	p.P601S	NNT_ENST00000344920.4_Missense_Mutation_p.P601S|NNT_ENST00000512996.2_Missense_Mutation_p.P470S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	601					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GTACCTGCTCCCTGCCGGCAC	0.453000													36	82					0	0	0.00111076	0	0
ECHS1	1892	broad.mit.edu	37	10	135179550	135179550	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:135179550G>A	ENST00000368547.3	-	6	1024	c.669C>T	c.(667-669)atC>atT	p.I223I		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	223					fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		CTGCACACTGGATGGCTTCTT	0.448000													19	77					0	0	0.000958276	0	0
SIMC1	375484	broad.mit.edu	37	5	175717561	175717561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:175717561C>T	ENST00000443967.1	+	4	1384	c.977C>T	c.(976-978)tCa>tTa	p.S326L	SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000429602.2_Missense_Mutation_p.S345L|SIMC1_ENST00000430704.2_Intron					SUMO-interacting motifs containing 1																		GTGTTACATTCACCTGGAGAC	0.532000													27	61					0	0	0.00106085	0	0
OR2M7	391196	broad.mit.edu	37	1	248487377	248487377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:248487377G>A	ENST00000317965.2	-	1	522	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTAGGAGAAGGAAAATGTCGC	0.453000													44	85					0	0	0.000781405	0	0
DHX57	90957	broad.mit.edu	37	2	39088225	39088225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:39088225G>A	ENST00000295373.6	-	5	1453	c.1327C>T	c.(1327-1329)Ccc>Tcc	p.P443S	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	443							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GTCCTAGAGGGTACTGGCAGA	0.378000													28	112					0	0	0.00178596	0	0
SKAP2	8935	broad.mit.edu	37	7	26883685	26883685	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:26883685C>T	ENST00000345317.2	-	4	584	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	SKAP2_ENST00000539623.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	91					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TCATATCGTTCTGAGGCTAAT	0.403000													36	205					0	0	0.00128727	0	0
FOLH1	2346	broad.mit.edu	37	11	49175808	49175808	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:49175808C>T	ENST00000340334.7	-	17	2183	c.1815G>A	c.(1813-1815)caG>caA	p.Q605Q	FOLH1_ENST00000256999.2_Silent_p.Q620Q|FOLH1_ENST00000356696.3_Silent_p.Q620Q|FOLH1_ENST00000343844.4_Silent_p.Q312Q|FOLH1_ENST00000533034.1_Silent_p.Q605Q	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	620					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TCTTCATTTCCTGTGGATGTT	0.343000													18	30					0	0	0.00121646	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256462	140256462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140256462C>T	ENST00000398631.2	+	1	1405	c.1405C>T	c.(1405-1407)Ccg>Tcg	p.P469S	PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAACAACCCGCCGGGCTG	0.662000													33	57					0	0	0.00283554	0	0
MCMDC2	157777	broad.mit.edu	37	8	67793138	67793138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:67793138C>T	ENST00000422365.2	+	8	935	c.764C>T	c.(763-765)cCa>cTa	p.P255L	MCMDC2_ENST00000492775.1_Missense_Mutation_p.P255L|MCMDC2_ENST00000541540.1_Missense_Mutation_p.P192L|MCMDC2_ENST00000313616.5_Missense_Mutation_p.P255L|MCMDC2_ENST00000396592.3_Missense_Mutation_p.P255L	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	255					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						ATTGGAATTCCAACCTGTGTA	0.244000													9	25					0	0	0.000442599	0	0
MAGI1	9223	broad.mit.edu	37	3	65479266	65479266	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:65479266C>T	ENST00000330909.8	-	3	470	c.471G>A	c.(469-471)gtG>gtA	p.V157V	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.V157V|MAGI1_ENST00000402939.2_Silent_p.V157V|MAGI1_ENST00000497477.2_Silent_p.V157V	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	157	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AGTTATAGTCCACGCCAGGCA	0.483000													14	49					0	0	0.00244969	0	0
CCDC83	220047	broad.mit.edu	37	11	85597391	85597391	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:85597391G>A	ENST00000280245.4	+	5	1004	c.492G>A	c.(490-492)gaG>gaA	p.E164E	CCDC83_ENST00000376067.1_Intron|CCDC83_ENST00000342404.3_Silent_p.E164E|CCDC83_ENST00000529676.2_Intron	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	164										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CAGTTAAAGAGAATGCAGAGA	0.363000													6	9					0	0	0.00116845	0	0
CLEC4E	26253	broad.mit.edu	37	12	8687247	8687247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:8687247C>T	ENST00000299663.3	-	6	812	c.647G>A	c.(646-648)gGa>gAa	p.G216E	CLEC4E_ENST00000446457.2_3'UTR|CLEC4E_ENST00000545274.1_Missense_Mutation_p.G171E	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	216						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					AAGAGATTTTCCTTTGTTCAA	0.408000													16	35					0	0	0.000422831	0	0
APOB	338	broad.mit.edu	37	2	21229420	21229420	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:21229420G>A	ENST00000233242.1	-	26	10447	c.10320C>T	c.(10318-10320)ttC>ttT	p.F3440F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3440	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTTCTTGCTTGAAATTCATTC	0.373000													215	275					0	0	0.000781405	0	0
LAMP5	24141	broad.mit.edu	37	20	9496969	9496969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:9496969G>A	ENST00000246070.2	+	4	928	c.436G>A	c.(436-438)Gac>Aac	p.D146N	LAMP5_ENST00000427562.2_Missense_Mutation_p.D102N	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	146						integral to membrane											GTTTGTCTACGACTCCTCGGA	0.582000													53	22					0	0	0.000781405	0	0
GLIS1	148979	broad.mit.edu	37	1	53995472	53995472	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:53995472G>T	ENST00000312233.2	-	4	1515	c.949C>A	c.(949-951)Cta>Ata	p.L317I		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	317					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						ACCGTGTCTAGGTGGGTGCGC	0.662000													24	84					7.26314e-15	2.68109e-14	0.00127121	1	0
DNAH8	1769	broad.mit.edu	37	6	38835890	38835890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:38835890G>A	ENST00000359357.3	+	46	6349	c.6095G>A	c.(6094-6096)gGa>gAa	p.G2032E	DNAH8_ENST00000441566.1_Missense_Mutation_p.G1996E|DNAH8_ENST00000449981.2_Missense_Mutation_p.G2249E					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						AGGACTCTTGGATCTCAAAAA	0.363000													20	52					0	0	0.000958276	0	0
CACNA1G	8913	broad.mit.edu	37	17	48646309	48646309	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:48646309C>T	ENST00000352832.5	+	2	693	c.321C>T	c.(319-321)atC>atT	p.I107I	CACNA1G_ENST00000515411.1_Silent_p.I107I|CACNA1G_ENST00000505165.1_Silent_p.I107I|CACNA1G_ENST00000515765.1_Silent_p.I107I|CACNA1G_ENST00000359106.5_Silent_p.I107I|CACNA1G_ENST00000514717.1_Silent_p.I107I|CACNA1G_ENST00000503485.1_Silent_p.I107I|CACNA1G_ENST00000507510.2_Silent_p.I107I|CACNA1G_ENST00000515165.1_Silent_p.I107I|CACNA1G_ENST00000514181.1_Silent_p.I107I|CACNA1G_ENST00000502264.1_Silent_p.I107I|CACNA1G_ENST00000513964.1_Silent_p.I107I|CACNA1G_ENST00000507336.1_Silent_p.I107I|CACNA1G_ENST00000360761.4_Silent_p.I107I|CACNA1G_ENST00000510366.1_Silent_p.I107I|CACNA1G_ENST00000512389.1_Silent_p.I107I|CACNA1G_ENST00000442258.2_Silent_p.I107I|CACNA1G_ENST00000416767.4_Silent_p.I107I|CACNA1G_ENST00000507609.1_Silent_p.I107I|CACNA1G_ENST00000513689.2_Silent_p.I107I|CACNA1G_ENST00000507896.1_Silent_p.I107I|CACNA1G_ENST00000510115.1_Silent_p.I107I|CACNA1G_ENST00000358244.5_Silent_p.I107I|CACNA1G_ENST00000354983.4_Silent_p.I107I|CACNA1G_ENST00000514079.1_Silent_p.I107I|CACNA1G_ENST00000429973.2_Silent_p.I107I	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	107					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.I107I(3)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCGAGGACATCGCCTGTGACT	0.562000													23	15					0	0	0.00047179	0	0
CCDC88C	440193	broad.mit.edu	37	14	91763744	91763744	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:91763744G>A	ENST00000389857.6	-	22	3957	c.3871C>T	c.(3871-3873)Ctg>Ttg	p.L1291L		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1291					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TTGAGCTCCAGCTGCGCGTTG	0.602000													13	16					0	0	0.00185496	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10922464	10922464	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:10922464G>C	ENST00000381661.3	+	12	1128	c.1019G>C	c.(1018-1020)cGa>cCa	p.R340P	ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.R386P	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	386					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TCTGTCTTCCGACATCTGGAT	0.443000													40	28					0	0	0.00128727	0	0
GPR148	344561	broad.mit.edu	37	2	131487309	131487309	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:131487309G>A	ENST00000309926.4	+	1	667	c.585G>A	c.(583-585)gaG>gaA	p.E195E		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	195						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CCCAGCTGGAGGAGCAAGGAG	0.582000													22	69					0	0	0.00229938	0	0
LPO	4025	broad.mit.edu	37	17	56327781	56327781	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:56327781G>A	ENST00000262290.4	+	7	895	c.579G>A	c.(577-579)cgG>cgA	p.R193R	LPO_ENST00000421678.2_Silent_p.R110R|LPO_ENST00000543544.1_Silent_p.R134R|LPO_ENST00000582328.1_Silent_p.R110R	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	193					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGTAGGCCCGGGAGGTATCTA	0.473000											OREG0024609	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	38					0	0	0.000953801	0	0
TMEM176B	28959	broad.mit.edu	37	7	150491073	150491073	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:150491073G>A	ENST00000447204.2	-	3	663	c.291C>T	c.(289-291)ggC>ggT	p.G97G	TMEM176B_ENST00000326442.5_Silent_p.G97G|TMEM176B_ENST00000492607.1_Silent_p.G97G|TMEM176B_ENST00000434545.1_Silent_p.G97G|TMEM176B_ENST00000450753.2_Intron|TMEM176B_ENST00000429904.2_Silent_p.G97G	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	97					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGAAGGCACAGCCTGAGGCAC	0.567000													27	124					0	0	0.00127121	0	0
CD300C	10871	broad.mit.edu	37	17	72540920	72540920	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:72540920C>T	ENST00000330793.1	-	2	588	c.228G>A	c.(226-228)ggG>ggA	p.G76G		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	76	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CATTCCTTTTCCCTGCTGACC	0.532000													23	64					0	0	0.00229938	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987878	50987878	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:50987878G>A	ENST00000395676.2	+	1	1417	c.1283G>A	c.(1282-1284)tGg>tAg	p.W428*		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	428										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACAGACGCCTGGACCCCACGC	0.672000													72	116					0	0	0.000781405	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20858930	20858930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:20858930C>T	ENST00000381552.1	+	4	687	c.319C>T	c.(319-321)Cac>Tac	p.H107Y	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.H107Y|SLCO1C1_ENST00000545102.1_5'UTR|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.H107Y|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.H107Y			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	107					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					AGCCAAACTTCACAGGCCAAA	0.373000													57	106					0	0	0.000781405	0	0
OR4C11	219429	broad.mit.edu	37	11	55371061	55371061	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:55371061G>A	ENST00000302231.4	-	1	813	c.789C>T	c.(787-789)ttC>ttT	p.F263F		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TGTCCATGGGGAAAGTGGTCG	0.433000													12	2					0	0	0.00136819	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51629048	51629048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:51629048G>A	ENST00000440804.3	+	2	683	c.616G>A	c.(616-618)Gac>Aac	p.D206N	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.D206N	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	206	Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ACAGCCCCAGGACCATGGCAC	0.657000													46	32					0	0	0.00285205	0	0
IGHV1-2	28474	broad.mit.edu	37	14	106453086	106453086	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:106453086G>A	ENST00000390594.2	-	0	84																											CCAAGAAGAGGATCCTCCAGG	0.542000													8	24					0	0	0.000673444	0	0
CLSTN2	64084	broad.mit.edu	37	3	140122557	140122557	+	Missense_Mutation	SNP	C	C	T	rs150165907		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:140122557C>T	ENST00000458420.3	+	3	509	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	107	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGGCCGGCTCCGTGCCAAGAG	0.562000										HNSCC(16;0.037)			47	104					0	0	0.000781405	0	0
C17orf78	284099	broad.mit.edu	37	17	35736299	35736299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:35736299G>A	ENST00000300618.4	+	3	420	c.370G>A	c.(370-372)Gga>Aga	p.G124R	C17orf78_ENST00000586700.1_Missense_Mutation_p.G124R|ACACA_ENST00000416895.1_Intron|ACACA_ENST00000353139.5_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	124						integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				GTTTCAGACTGGATCTCTTCT	0.483000													28	101					0	0	0.00106085	0	0
CCDC96	257236	broad.mit.edu	37	4	7043099	7043099	+	Missense_Mutation	SNP	G	G	A	rs34275081	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:7043099G>A	ENST00000310085.4	-	1	1629	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	523										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						TCCAGGCGCCGGTGAAGCAGT	0.557000													22	52					0	0	0.00229938	0	0
BCL11A	53335	broad.mit.edu	37	2	60688589	60688589	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:60688589C>T	ENST00000335712.6	-	4	1685	c.1458G>A	c.(1456-1458)gaG>gaA	p.E486E	BCL11A_ENST00000537768.1_Silent_p.E155E|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.E486E|BCL11A_ENST00000538214.1_Silent_p.E452E|BCL11A_ENST00000358510.4_Silent_p.E452E	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	486	Glu-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			cctcctcttcctcctcgtccc	0.637000			T	IGH@	B-CLL								40	142					0	0	0.00128727	0	0
GALNTL6	442117	broad.mit.edu	37	4	173730571	173730571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:173730571C>T	ENST00000506823.1	+	6	1270	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R188C	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	205	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GAGGATTGTTCGCACCAAGAA	0.478000													12	36					0	0	0.000422831	0	0
AADACL2	344752	broad.mit.edu	37	3	151474812	151474812	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:151474812C>T	ENST00000356517.3	+	5	745	c.636C>T	c.(634-636)atC>atT	p.I212I	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	212						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AACATAAAATCAAGATGCAAG	0.328000													20	22					0	0	0.00121646	0	0
EPHA4	2043	broad.mit.edu	37	2	222347194	222347194	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:222347194G>A	ENST00000281821.2	-	5	1237	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	EPHA4_ENST00000409938.1_Missense_Mutation_p.S399F|EPHA4_ENST00000409854.1_Missense_Mutation_p.S399F|EPHA4_ENST00000392071.4_Missense_Mutation_p.S348F	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	399	Fibronectin type-III 1.		S -> F (in a metastatic melanoma sample; somatic mutation).			integral to plasma membrane	ATP binding|ephrin receptor activity	p.S399F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GTCAGTGATGGAGACTTTGGT	0.502000													152	210					0	0	0.000781405	0	0
SRP68	6730	broad.mit.edu	37	17	74060080	74060080	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:74060080C>A	ENST00000307877.2	-	4	699	c.538G>T	c.(538-540)Gcc>Tcc	p.A180S	SRP68_ENST00000539137.1_Missense_Mutation_p.A142S|SRP68_ENST00000355113.5_Missense_Mutation_p.A79S	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	180					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TTGGTCTTGGCATCCACGCGA	0.443000													40	113					5.44703e-19	2.01352e-18	0.00222228	1	0
PITPNM3	83394	broad.mit.edu	37	17	6367089	6367089	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:6367089C>T	ENST00000262483.8	-	17	2356	c.2269G>A	c.(2269-2271)Gac>Aac	p.D757N	ACKR6_ENST00000421306.3_Missense_Mutation_p.D721N|ACKR6_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2																					ACCTTGGGGTCGCTTCCCATG	0.632000													7	3					0	0	0.000274275	0	0
ANK3	288	broad.mit.edu	37	10	61941113	61941113	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:61941113C>T	ENST00000280772.1	-	18	2349	c.2158G>A	c.(2158-2160)Ggg>Agg	p.G720R	ANK3_ENST00000503366.1_Missense_Mutation_p.G703R|ANK3_ENST00000373827.2_Missense_Mutation_p.G714R	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	720					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACATGAGCCCCTTGGTTTACG	0.498000													44	71					0	0	0.000781405	0	0
OR4N4	283694	broad.mit.edu	37	15	22382583	22382583	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:22382583C>T	ENST00000328795.4	+	1	202	c.111C>T	c.(109-111)atC>atT	p.I37I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTACCTTATCATCCTCCCTG	0.433000													45	256					0	0	0.000781405	0	0
CACNA1F	778	broad.mit.edu	37	X	49061645	49061645	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:49061645G>A	ENST00000376265.2	-	48	5947	c.5886C>T	c.(5884-5886)ttC>ttT	p.F1962F	CACNA1F_ENST00000323022.5_Silent_p.F1951F|CACNA1F_ENST00000376251.1_Silent_p.F1897F	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1962					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCTCCTCATCGAAGCGGGAGA	0.607000													13	0					0	0	0.000422831	0	0
NPR1	4881	broad.mit.edu	37	1	153659521	153659521	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:153659521G>A	ENST00000368680.3	+	12	2365	c.1893G>A	c.(1891-1893)ctG>ctA	p.L631L		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	631	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GCATCACCCTGGACTGGATGT	0.562000													13	57					0	0	0.00074312	0	0
RGPD3	653489	broad.mit.edu	37	2	107041433	107041433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:107041433G>A	ENST00000409886.3	-	20	3077	c.2990C>T	c.(2989-2991)tCa>tTa	p.S997L	RGPD3_ENST00000304514.7_Missense_Mutation_p.S997L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	997					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCCAGCACCTGAAAATCCCTT	0.378000													100	147					0	0	0.000781405	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966780	41966780	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:41966780G>A	ENST00000298919.7	+	10	1807	c.1419G>A	c.(1417-1419)aaG>aaA	p.K473K	PDZRN4_ENST00000402685.2_Silent_p.K733K|PDZRN4_ENST00000539469.2_Silent_p.K475K			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	733	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGTCTGACAAGGACAGTTCTA	0.478000													24	61					0	0	0.00278032	0	0
SPTLC3	55304	broad.mit.edu	37	20	13098255	13098255	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:13098255C>T	ENST00000399002.2	+	8	1309	c.1035C>T	c.(1033-1035)ggC>ggT	p.G345G	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	345					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GGGCCGTGGGCCCAACCGGCC	0.502000													61	35					0	0	0.000781405	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41455032	41455032	+	RNA	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:41455032T>G	ENST00000599198.1	+	0	1423					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						CCTCCAGAACTTCTCCGTGGC	0.562000													3	20					0	0	6.4e-05	0	0
OR4F15	390649	broad.mit.edu	37	15	102359018	102359018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:102359018C>T	ENST00000332238.4	+	1	653	c.629C>T	c.(628-630)tCc>tTc	p.S210F		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TCTGTGGGCTCCTTTGTCTTG	0.473000													23	76					0	0	0.000720815	0	0
RGS9BP	388531	broad.mit.edu	37	19	33167751	33167751	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:33167751C>T	ENST00000334176.3	+	1	1439	c.582C>T	c.(580-582)tcC>tcT	p.S194S		NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	194	SNARE-like (By similarity).				negative regulation of signal transduction	integral to membrane				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					CCGGCCCCTCCTCGGTCGTGT	0.716000													8	12					0	0	0.000274275	0	0
ECEL1	9427	broad.mit.edu	37	2	233348801	233348801	+	Silent	SNP	C	C	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:233348801C>G	ENST00000304546.1	-	7	1527	c.1317G>C	c.(1315-1317)cgG>cgC	p.R439R	ECEL1_ENST00000409941.1_Silent_p.R439R	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	439					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCAAGCAGACCCGGGCCAGCT	0.627000													30	61					0	0	0.000692331	0	0
TANC2	26115	broad.mit.edu	37	17	61498624	61498624	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:61498624G>A	ENST00000424789.2	+	25	5285	c.5281G>A	c.(5281-5283)Gaa>Aaa	p.E1761K	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.E1771K	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1761							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CAACCCTAACGAAATCAAACC	0.507000													119	68					0	0	0.000781405	0	0
CCDC105	126402	broad.mit.edu	37	19	15132229	15132229	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:15132229A>T	ENST00000292574.3	+	4	1021	c.939A>T	c.(937-939)gaA>gaT	p.E313D		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	313					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CCTTGGTAGAAATGGCAAAGA	0.602000													31	20					0	0	0.00058488	0	0
NUBPL	80224	broad.mit.edu	37	14	32142590	32142590	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:32142590G>A	ENST00000281081.7	+	5	457	c.412G>A	c.(412-414)Ggt>Agt	p.G138S	NUBPL_ENST00000536705.1_Missense_Mutation_p.G42S	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	138					mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		CTTGAATTATGGTATTGCTTG	0.274000													5	21					0	0	0.000602214	0	0
ITPR1	3708	broad.mit.edu	37	3	4714885	4714885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:4714885C>T	ENST00000302640.8	+	20	2575	c.2225C>T	c.(2224-2226)tCa>tTa	p.S742L	ITPR1_ENST00000456211.2_Missense_Mutation_p.S742L|ITPR1_ENST00000357086.4_Missense_Mutation_p.S757L|ITPR1_ENST00000423119.2_Missense_Mutation_p.S757L|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.S757L|ITPR1_ENST00000443694.2_Missense_Mutation_p.S742L	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	757					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AACGAAATCTCAGGCCAGCTG	0.547000													9	33					0	0	0.000274275	0	0
LATS2	26524	broad.mit.edu	37	13	21562189	21562189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:21562189G>A	ENST00000382592.4	-	4	2135	c.1730C>T	c.(1729-1731)cCc>cTc	p.P577L	LATS2_ENST00000542899.1_Missense_Mutation_p.P577L	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	577					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GACGGGAACGGGAGAGGTCTG	0.572000													53	52					0	0	0.000781405	0	0
WFDC8	90199	broad.mit.edu	37	20	44184469	44184469	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:44184469G>A	ENST00000357199.4	-	4	394	c.316C>T	c.(316-318)Cat>Tat	p.H106Y	WFDC8_ENST00000289953.2_Missense_Mutation_p.H106Y	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	106	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TGTGCCTCATGATTACAGTTT	0.453000													22	65					0	0	0.00229938	0	0
BTN3A3	10384	broad.mit.edu	37	6	26444391	26444391	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:26444391T>G	ENST00000244519.2	+	4	535	c.292T>G	c.(292-294)Tcg>Gcg	p.S98A	BTN3A3_ENST00000339789.4_Missense_Mutation_p.S56A|BTN3A3_ENST00000361232.3_Missense_Mutation_p.S56A	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	98	Ig-like V-type 1.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						AGGGAGAACTTCGATTCTGCG	0.527000													17	76					0	0	0.00278032	0	0
C3P1	388503	broad.mit.edu	37	19	10157457	10157457	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:10157457G>A	ENST00000495140.1	+	0	1056																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						ATGCCTGTGCGGACCTTGTTC	0.527000													13	69					0	0	0.00185496	0	0
OR9A4	130075	broad.mit.edu	37	7	141618715	141618715	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:141618715C>T	ENST00000548136.1	+	1	99	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					ATTTTATCTCCTTGGCTTCCC	0.378000													88	137					0	0	0.000781405	0	0
ZDHHC7	55625	broad.mit.edu	37	16	85010019	85010019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:85010019G>A	ENST00000313732.4	-	8	1209	c.857C>T	c.(856-858)cCc>cTc	p.P286L	ZDHHC7_ENST00000564466.1_Missense_Mutation_p.P323L	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	286						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						GCCCACAAAGGGATTCATCCA	0.577000													46	30					0	0	0.000781405	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993259	140993259	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:140993259G>A	ENST00000285879.4	+	4	355	c.69G>A	c.(67-69)caG>caA	p.Q23Q	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	23							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGTCCTCAGAGTTGTCCTG	0.567000										HNSCC(15;0.026)			53	2					0	0	0.000781405	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672962	141672962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:141672962C>T	ENST00000547270.1	-	1	611	c.528G>A	c.(526-528)atG>atA	p.M176I		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	176					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TATTGTTATTCATGAATAGCA	0.408000													13	67					0	0	0.00244969	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763134	92763134	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:92763134C>T	ENST00000318238.4	-	5	3367	c.2151G>A	c.(2149-2151)aaG>aaA	p.K717K	SAMD9L_ENST00000411955.1_Silent_p.K717K|SAMD9L_ENST00000437805.1_Silent_p.K717K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	717										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AATCTTTAAGCTTTTCATAAC	0.368000													26	18					0	0	0.000720815	0	0
PHOSPHO2	493911	broad.mit.edu	37	2	170558118	170558118	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:170558118C>A	ENST00000359744.3	+	4	1025	c.637C>A	c.(637-639)Caa>Aaa	p.Q213K	KLHL23_ENST00000272797.4_Intron|KLHL23_ENST00000602521.1_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	213							metal ion binding|pyridoxal phosphatase activity			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						CAGAATGTCTCAAAATCTTGA	0.353000													6	127					0.00198382	0.00723911	0.00198382	1	0
SPEF2	79925	broad.mit.edu	37	5	35779244	35779244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:35779244C>T	ENST00000440995.2	+	30	4228	c.4228C>T	c.(4228-4230)Cgc>Tgc	p.R1410C	SPEF2_ENST00000356031.3_Missense_Mutation_p.R1415C|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1415					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGACGTAGCTCGCTATCACAT	0.323000													9	22					0	0	0.000673444	0	0
ZNF267	10308	broad.mit.edu	37	16	31926270	31926270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:31926270C>T	ENST00000300870.10	+	4	909	c.700C>T	c.(700-702)Cat>Tat	p.H234Y	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	234					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						CCCTAAAAATCATCAGGAAAA	0.308000													8	13					0	0	0.000157383	0	0
PRLHR	2834	broad.mit.edu	37	10	120353908	120353908	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:120353908G>A	ENST00000239032.2	-	2	987	c.849C>T	c.(847-849)atC>atT	p.I283I	PRLHR_ENST00000369169.1_Silent_p.I283I	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	283			I -> V (in dbSNP:rs1613448).		female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		ACACCACCACGATCACCACCA	0.692000													31	23					0	0	0.00111076	0	0
CXADRP3	440224	broad.mit.edu	37	18	14479245	14479245	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:14479245C>T	ENST00000581457.1	-	0	663					NR_024076.1																						CACAGGAGCACGAAGCGCAGC	0.612000													9	8					0	0	0.000673444	0	0
CCL7	6354	broad.mit.edu	37	17	32598269	32598269	+	Missense_Mutation	SNP	C	C	T	rs149253093		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:32598269C>T	ENST00000378569.2	+	2	251	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	CCL7_ENST00000200307.4_Missense_Mutation_p.R71W|CCL7_ENST00000394627.1_Silent_p.P78P|CCL7_ENST00000394630.3_Intron	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	61					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	p.R61W(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CCACTGTCCCCGGGAAGCTGT	0.488000													26	49					0	0	0.00178596	0	0
INSRR	3645	broad.mit.edu	37	1	156824046	156824046	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:156824046C>T	ENST00000368195.3	-	2	531	c.135G>A	c.(133-135)ctG>ctA	p.L45L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	45					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGCAGTTCTCCAGCTGACGAA	0.627000													7	36					0	0	0.00198382	0	0
CYP7A1	1581	broad.mit.edu	37	8	59409675	59409675	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:59409675G>A	ENST00000301645.3	-	3	533	c.396C>T	c.(394-396)acC>acT	p.T132T		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	132					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GGCCCTGCAGGGTTTTGATGA	0.458000									Neonatal Giant Cell Hepatitis				28	56					0	0	0.000878237	0	0
EYA2	2139	broad.mit.edu	37	20	45618739	45618739	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:45618739G>A	ENST00000327619.5	+	2	464	c.90G>A	c.(88-90)tgG>tgA	p.W30*	EYA2_ENST00000357410.3_Nonsense_Mutation_p.W30*|EYA2_ENST00000317304.6_Nonsense_Mutation_p.W30*	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	30					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CTGCTGTGTGGACTCTGAGTG	0.498000													16	39					0	0	0.000958276	0	0
ACACB	32	broad.mit.edu	37	12	109694021	109694021	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:109694021C>T	ENST00000338432.7	+	45	6362	c.6243C>T	c.(6241-6243)acC>acT	p.T2081T	ACACB_ENST00000377854.5_Silent_p.T2011T|ACACB_ENST00000377848.3_Silent_p.T2081T|ACACB_ENST00000543201.1_Silent_p.T747T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2081	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGGCGCAGACCGTGGTGACAG	0.602000													6	37					0	0	0.00198382	0	0
GSDMA	284110	broad.mit.edu	37	17	38130527	38130527	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:38130527G>A	ENST00000301659.4	+	9	871	c.751_splice	c.e9-1	p.G251_splice		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	251					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						TCCCCATAGGGGACGTACACG	0.557000													6	9					0	0	0.000442599	0	0
MASP1	5648	broad.mit.edu	37	3	187003734	187003734	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:187003734G>A	ENST00000337774.5	-	2	505	c.116C>T	c.(115-117)tCc>tTc	p.S39F	MASP1_ENST00000392472.2_Intron|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Missense_Mutation_p.S39F|MASP1_ENST00000169293.6_Missense_Mutation_p.S39F|MASP1_ENST00000392470.2_Missense_Mutation_p.S13F	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	39	CUB 1.|Homodimerization (By similarity).|Interaction with FCN2.|Interaction with MBL2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ACTGGGATAGGAGTCTGGATA	0.478000													21	51					0	0	0.00278032	0	0
TP53BP1	7158	broad.mit.edu	37	15	43712807	43712807	+	Silent	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:43712807A>T	ENST00000263801.3	-	21	4614	c.4362T>A	c.(4360-4362)gcT>gcA	p.A1454A	TP53BP1_ENST00000382039.3_Silent_p.A1409A|TP53BP1_ENST00000382044.4_Silent_p.A1459A|TP53BP1_ENST00000450115.2_Silent_p.A1459A	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1454					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GCAAAGCACCAGCACCCACAT	0.522000								Other conserved DNA damage response genes					11	55					0	0	0.000673444	0	0
ZNF527	84503	broad.mit.edu	37	19	37879873	37879873	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:37879873G>A	ENST00000436120.2	+	5	1029	c.922G>A	c.(922-924)Gga>Aga	p.G308R	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAATGACTGTGGAAAAGCCTT	0.393000													62	54					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179597594	179597594	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179597594T>A	ENST00000589042.1	-	55	16533	c.16309A>T	c.(16309-16311)Agc>Tgc	p.S5437C	TTN_ENST00000591111.1_Missense_Mutation_p.S5120C|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S4193C|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5120	Ig-like 35.						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)			CTGTCTTTGCTTCCCACGGAA	0.433000													9	21					0	0	0.000673444	0	0
CAP2	10486	broad.mit.edu	37	6	17426906	17426906	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:17426906G>A	ENST00000229922.2	+	3	739	c.207G>A	c.(205-207)ggG>ggA	p.G69G	CAP2_ENST00000493172.1_Silent_p.G69G|CAP2_ENST00000489374.1_Silent_p.G69G|CAP2_ENST00000378990.2_Silent_p.G69G|CAP2_ENST00000465994.1_Silent_p.G69G	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	69					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TCCTTGCTGGGGACGTGGAGA	0.517000													15	54					0	0	0.000422831	0	0
ZNF429	353088	broad.mit.edu	37	19	21720110	21720110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:21720110C>T	ENST00000358491.4	+	4	1463	c.1255C>T	c.(1255-1257)Cat>Tat	p.H419Y	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CAAGAAAATTCATACTGGAGA	0.353000													12	35					0	0	0.00136819	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123687382	123687382	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:123687382G>A	ENST00000606320.1	-	10	1776	c.1570C>T	c.(1570-1572)Cag>Tag	p.Q524*	MPHOSPH9_ENST00000392425.3_Nonsense_Mutation_p.Q372*|MPHOSPH9_ENST00000541076.2_Nonsense_Mutation_p.Q494*|MPHOSPH9_ENST00000302349.5_Nonsense_Mutation_p.Q372*			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	372					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TGGAATGTCTGATTTTTCCAA	0.398000													49	88					0	0	0.000781405	0	0
FRMD7	90167	broad.mit.edu	37	X	131212235	131212235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:131212235C>T	ENST00000298542.4	-	12	1985	c.1810G>A	c.(1810-1812)Ggg>Agg	p.G604R	FRMD7_ENST00000370879.1_Missense_Mutation_p.G484R|FRMD7_ENST00000464296.1_Missense_Mutation_p.G589R	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	604					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AATTCTGACCCAAAAGGAAAA	0.423000													18	23					0	0	0.000958276	0	0
TEX29	121793	broad.mit.edu	37	13	111995208	111995208	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:111995208G>A	ENST00000283547.1	+	5	474	c.345G>A	c.(343-345)ggG>ggA	p.G115G		NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN	testis expressed 29	115						integral to membrane											GCAAGTTAGGGCTGAAGCCTG	0.562000													46	1					0	0	0.000781405	0	0
CECR2	27443	broad.mit.edu	37	22	18021603	18021603	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:18021603C>T	ENST00000262608.8	+	14	1897	c.1897C>T	c.(1897-1899)Ccg>Tcg	p.P633S	CECR2_ENST00000400585.2_Missense_Mutation_p.P491S|CECR2_ENST00000400573.4_Missense_Mutation_p.P632S	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	674					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CTCTGGAGTCCCGGAGCCACA	0.597000													8	93					0	0	0.000157383	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999685	46999685	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:46999685G>A	ENST00000374314.4	+	1	1760	c.805G>A	c.(805-807)Ggg>Agg	p.G269R	GPRIN2_ENST00000374317.1_Missense_Mutation_p.G269R			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	269										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GAGCGAGTCTGGGCTGCAGGC	0.627000													20	90					0	0	0.00152264	0	0
IWS1	55677	broad.mit.edu	37	2	128262702	128262702	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:128262702C>T	ENST00000295321.4	-	3	1036	c.777G>A	c.(775-777)caG>caA	p.Q259Q	IWS1_ENST00000455721.2_Silent_p.Q266Q|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	259	3 X approximate tandem repeats.|Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AGTCACTGGCCTGGTGCCTCG	0.537000													52	142					0	0	0.000781405	0	0
ARSE	415	broad.mit.edu	37	X	2867429	2867429	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:2867429C>T	ENST00000545496.1	-	7	1136	c.845G>A	c.(844-846)aGa>aAa	p.R282K	ARSE_ENST00000540563.1_Missense_Mutation_p.R212K|ARSE_ENST00000381134.3_Missense_Mutation_p.R257K			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	257					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTGTGGTTTCTCATCAGAAA	0.532000													42	3					0	0	0.00222228	0	0
LRP1B	53353	broad.mit.edu	37	2	141773462	141773462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:141773462C>T	ENST00000389484.3	-	13	2964	c.1993G>A	c.(1993-1995)Gag>Aag	p.E665K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	665					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATCTTCCTCCCAGTCTGTC	0.408000										TSP Lung(27;0.18)			9	38					0	0	0.000673444	0	0
ZNF831	128611	broad.mit.edu	37	20	57829200	57829200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:57829200G>A	ENST00000371030.2	+	5	4436	c.4436G>A	c.(4435-4437)gGa>gAa	p.G1479E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1479						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)					GGGTCCAAAGGAACTTTTCCC	0.493000													39	87					0	0	0.00285205	0	0
CCKAR	886	broad.mit.edu	37	4	26483788	26483788	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:26483788C>T	ENST00000295589.3	-	5	953	c.759G>A	c.(757-759)agG>agA	p.R253R		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	253					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TGCTAGGTTTCCTTTCTGGGT	0.582000													17	36					0	0	0.00074312	0	0
COBL	23242	broad.mit.edu	37	7	51095722	51095722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:51095722G>A	ENST00000395542.2	-	12	3501	c.3317C>T	c.(3316-3318)cCa>cTa	p.P1106L	COBL_ENST00000265136.7_Missense_Mutation_p.P1024L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1024										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AGATGTGTGTGGAGGGGGTGG	0.632000													21	39					0	0	0.00229938	0	0
RYR1	6261	broad.mit.edu	37	19	39062679	39062679	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:39062679G>A	ENST00000355481.4	+	94	13883	c.13752G>A	c.(13750-13752)ggG>ggA	p.G4584G	RYR1_ENST00000359596.3_Silent_p.G4589G|RYR1_ENST00000360985.3_Silent_p.G4584G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4589					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTCCACCAGGGGAGGACGACA	0.607000													24	79					0	0	0.00127121	0	0
USH2A	7399	broad.mit.edu	37	1	216073442	216073442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:216073442C>T	ENST00000366943.2	-	40	7955	c.7569G>A	c.(7567-7569)tgG>tgA	p.W2523*	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Nonsense_Mutation_p.W2523*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2523	Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAATGGAATCCAAGAACTAT	0.423000										HNSCC(13;0.011)			12	75					0	0	0.000422831	0	0
RNF150	57484	broad.mit.edu	37	4	142053480	142053480	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:142053480C>T	ENST00000306799.3	-	1	1136	c.484_splice	c.e1+1	p.A161_splice	RNF150_ENST00000507500.1_Splice_Site_p.A161_splice|RNF150_ENST00000515673.1_Splice_Site_p.A161_splice|RNF150_ENST00000420921.2_Intron	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	161	PA.					integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GCCACTCACCCGCGTGGGGCA	0.667000													3	4					0	0	6.4e-05	0	0
MRPL45	84311	broad.mit.edu	37	17	36478092	36478092	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:36478092C>T	ENST00000312513.5	+	7	905	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	248					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ATGTTGTATTCGAAAAGCAGT	0.502000													30	90					0	0	0.001512	0	0
TELO2	9894	broad.mit.edu	37	16	1550438	1550438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:1550438C>T	ENST00000262319.6	+	8	1372	c.1093C>T	c.(1093-1095)Ctc>Ttc	p.L365F		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	365						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CAAGGCTGTCCTCATCTGCCT	0.701000													5	16					0	0	0.00198382	0	0
SERPINE1	5054	broad.mit.edu	37	7	100771899	100771899	+	Silent	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:100771899A>C	ENST00000223095.4	+	2	382	c.225A>C	c.(223-225)ggA>ggC	p.G75G	SERPINE1_ENST00000445463.2_Silent_p.G60G	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	75				G -> V (in Ref. 7; CAA31208).	angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	CAACAGGAGGAGAAACCCAGC	0.577000													19	21					0	0	0.000958276	0	0
GJA1	2697	broad.mit.edu	37	6	121768817	121768817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:121768817C>T	ENST00000282561.3	+	2	981	c.824C>T	c.(823-825)aCc>aTc	p.T275I		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	275					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCCTCACCAACCGCTCCCCTC	0.517000													14	33					0	0	0.00185496	0	0
BRMS1L	84312	broad.mit.edu	37	14	36300622	36300622	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:36300622A>G	ENST00000216807.7	+	2	348	c.149A>G	c.(148-150)gAt>gGt	p.D50G	BRMS1L_ENST00000543183.1_Missense_Mutation_p.D2G	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	50					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		ACAGAAATGGATGATGAAGAC	0.284000													21	57					0	0	0.00188189	0	0
PRRC2A	7916	broad.mit.edu	37	6	31594924	31594924	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:31594924C>T	ENST00000376033.2	+	11	1473	c.1239C>T	c.(1237-1239)ccC>ccT	p.P413P	PRRC2A_ENST00000376007.4_Silent_p.P413P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	413	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTCCCCTACCCCCACCTCACC	0.657000													7	10					0	0	0.000157383	0	0
TAF7L	54457	broad.mit.edu	37	X	100533048	100533048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:100533048G>A	ENST00000372907.3	-	8	835	c.824C>T	c.(823-825)gCc>gTc	p.A275V	TAF7L_ENST00000372905.2_Missense_Mutation_p.A189V|TAF7L_ENST00000324762.6_Missense_Mutation_p.A189V|TAF7L_ENST00000356784.1_Missense_Mutation_p.A189V	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	275					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GGTACTTACGGCTTCAGCATC	0.453000													18	24					0	0	0.00152264	0	0
STON2	85439	broad.mit.edu	37	14	81862503	81862503	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:81862503G>A	ENST00000555447.1	-	4	520	c.108C>T	c.(106-108)ctC>ctT	p.L36L	STON2_ENST00000267540.2_Silent_p.L36L	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	36					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ACAGTCCTGGGAGGTGCTCTT	0.572000													13	34					0	0	0.000308642	0	0
DHX36	170506	broad.mit.edu	37	3	154007607	154007607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:154007607G>A	ENST00000496811.1	-	16	1903	c.1823C>T	c.(1822-1824)cCt>cTt	p.P608L	DHX36_ENST00000308361.6_Missense_Mutation_p.P608L|DHX36_ENST00000329463.5_Missense_Mutation_p.P594L|DHX36_ENST00000544526.1_Missense_Mutation_p.P594L	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	608	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCAATGACCAGGTTGAACTCT	0.353000													12	29					0	0	0.00244969	0	0
PTGS2	5743	broad.mit.edu	37	1	186645797	186645797	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:186645797C>T	ENST00000367468.5	-	7	908	c.772G>A	c.(772-774)Gag>Aag	p.E258K	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	258					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	TAGATCATCTCTGCCTGAGTA	0.413000													7	38					0	0	0.00198382	0	0
OSMR	9180	broad.mit.edu	37	5	38886271	38886271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:38886271C>T	ENST00000274276.3	+	7	1372	c.970C>T	c.(970-972)Ctt>Ttt	p.L324F	OSMR_ENST00000502536.1_Missense_Mutation_p.L324F	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	324					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TGTCAATATCCTTTTTAACCT	0.403000													15	40					0	0	0.000566183	0	0
DNAH17	8632	broad.mit.edu	37	17	76566443	76566443	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:76566443G>A	ENST00000389840.5	-	7	1054	c.930C>T	c.(928-930)ttC>ttT	p.F310F	DNAH17_ENST00000585328.1_Silent_p.F310F					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCTTGGCAATGAAGGTGGGGA	0.602000													4	16					0	0	0.00116845	0	0
PMS2	5395	broad.mit.edu	37	7	6017358	6017358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:6017358G>A	ENST00000265849.7	-	14	2411	c.2306C>T	c.(2305-2307)tCc>tTc	p.S769F	PMS2_ENST00000406569.3_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.S663F|PMS2_ENST00000382321.4_Missense_Mutation_p.S368F	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	769					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGTTGGCAAGGAAATCAGTTT	0.463000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				18	121					0	0	0.00188189	0	0
HPX	3263	broad.mit.edu	37	11	6458377	6458377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:6458377C>T	ENST00000265983.3	-	7	834	c.734G>A	c.(733-735)gGg>gAg	p.G245E		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	245					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GGTACTGTTCCCATGGCCAGT	0.547000													12	12					0	0	0.000978159	0	0
PLXDC2	84898	broad.mit.edu	37	10	20506404	20506404	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:20506404G>A	ENST00000377252.3	+	11	2013	c.1172G>A	c.(1171-1173)cGa>cAa	p.R391Q	PLXDC2_ENST00000377242.3_Missense_Mutation_p.R342Q|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	391	Thr-rich.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ACTTCTTCTCGAACCACCACA	0.443000													5	11					0	0	0.00198382	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140196	3140196	+	Silent	SNP	G	G	A	rs140343297		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:3140196G>A	ENST00000252463.2	-	5	1161	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F	ZSCAN10_ENST00000538082.2_Silent_p.F276F|ZSCAN10_ENST00000575108.1_Silent_p.F19F	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	358					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AGCTCTGGCGGAAGCGGTGGC	0.701000													29	92					0	0	0.00283554	0	0
IRX6	79190	broad.mit.edu	37	16	55363139	55363139	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:55363139C>T	ENST00000290552.7	+	5	2581	c.1249C>T	c.(1249-1251)Ctg>Ttg	p.L417L	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	417						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CAAGTTTGCCCTGCAGGGACT	0.642000													22	55					0	0	0.00278032	0	0
SMG1	23049	broad.mit.edu	37	16	18856882	18856882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:18856882C>T	ENST00000446231.2	-	39	6500	c.6088G>A	c.(6088-6090)Gct>Act	p.A2030T	SMG1_ENST00000389467.3_Missense_Mutation_p.A2030T			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2030					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TCTGCAGGAGCCGCTGTGATA	0.438000													38	92					0	0	0.00195071	0	0
LEMD1	93273	broad.mit.edu	37	1	205350880	205350880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:205350880C>T	ENST00000367153.4	-	6	554	c.452G>A	c.(451-453)gGt>gAt	p.G151D	LEMD1_ENST00000367152.1_Missense_Mutation_p.G110D|LEMD1_ENST00000367154.1_Missense_Mutation_p.V104I|LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000367149.3_Missense_Mutation_p.V63I|LEMD1_ENST00000367151.2_Missense_Mutation_p.G110D|LEMD1_ENST00000391936.2_Missense_Mutation_p.V104I	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1	151						integral to membrane|nuclear envelope				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			CACTGGGAAACCTTCTTCTCT	0.463000													52	218					0	0	0.000781405	0	0
BARX2	8538	broad.mit.edu	37	11	129306793	129306793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:129306793G>A	ENST00000281437.4	+	2	431	c.335G>A	c.(334-336)gGg>gAg	p.G112E	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	112										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GAGGCCCCAGGGGGCGAGGCC	0.687000													15	17					0	0	0.000422831	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170308	207170308	+	Silent	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:207170308C>A	ENST00000374423.3	+	5	1442	c.1056C>A	c.(1054-1056)gcC>gcA	p.A352A		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	352							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACAAGACAGCCTTTTGGGAAC	0.383000													10	57					2.80697e-09	1.03362e-08	0.000978159	1	0
C6orf10	10665	broad.mit.edu	37	6	32260952	32260952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:32260952C>T	ENST00000375015.4	-	26	1695	c.1495G>A	c.(1495-1497)Gat>Aat	p.D499N	C6orf10_ENST00000375007.4_Missense_Mutation_p.D498N|C6orf10_ENST00000447241.2_Missense_Mutation_p.D500N|C6orf10_ENST00000533191.1_Missense_Mutation_p.D498N|C6orf10_ENST00000527965.1_Missense_Mutation_p.D484N|C6orf10_ENST00000442822.2_Intron			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	500	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ttttctttatcattatttcct	0.358000													25	23					0	0	0.00278032	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617573	54617573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:54617573C>T	ENST00000302287.3	+	4	750	c.344C>T	c.(343-345)tCc>tTc	p.S115F	VSTM2A_ENST00000407838.3_Missense_Mutation_p.S115F|VSTM2A_ENST00000402026.2_Missense_Mutation_p.S114F|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402613.3_Missense_Mutation_p.S115F|VSTM2A_ENST00000404951.1_Missense_Mutation_p.S115F			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	115	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			CTTCAGATTTCCAAAGTGAGG	0.423000													40	14					0	0	0.000680045	0	0
EFHD2	79180	broad.mit.edu	37	1	15752446	15752446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:15752446C>T	ENST00000375980.4	+	2	465	c.388C>T	c.(388-390)Cac>Tac	p.H130Y		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	130	EF-hand 2.					membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTCAGACCCACCTGGGCCT	0.577000													28	87					0	0	0.000878237	0	0
FUT10	84750	broad.mit.edu	37	8	33247208	33247208	+	Missense_Mutation	SNP	G	G	A	rs149780215		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:33247208G>A	ENST00000327671.5	-	4	1116	c.485C>T	c.(484-486)cCa>cTa	p.P162L	FUT10_ENST00000524021.1_Missense_Mutation_p.P134L|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000335589.3_Missense_Mutation_p.P100L|FUT10_ENST00000518672.1_Missense_Mutation_p.P134L	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	162					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GGTGATCACTGGTTTATGAAA	0.443000													30	27					0	0	0.00127121	0	0
XKR6	286046	broad.mit.edu	37	8	10756373	10756373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:10756373G>A	ENST00000416569.2	-	3	1041	c.1015C>T	c.(1015-1017)Cac>Tac	p.H339Y	XKR6_ENST00000304437.2_Missense_Mutation_p.H60Y	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	339						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AGCAGCTTGTGATAGGAGGCT	0.557000													41	96					0	0	0.00148497	0	0
EPRS	2058	broad.mit.edu	37	1	220174493	220174493	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:220174493G>C	ENST00000366923.3	-	17	2437	c.2168C>G	c.(2167-2169)gCc>gGc	p.A723G	EPRS_ENST00000464052.1_5'UTR	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	723	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	ATTTTTTGTGGCTTCTACTTT	0.358000													25	66					0	0	0.00106085	0	0
DAPK1	1612	broad.mit.edu	37	9	90219968	90219968	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:90219968G>A	ENST00000469640.2	+	3	537	c.162G>A	c.(160-162)cgG>cgA	p.R54R	DAPK1_ENST00000472284.1_Silent_p.R54R|DAPK1_ENST00000358077.5_Silent_p.R54R|DAPK1_ENST00000408954.3_Silent_p.R54R|DAPK1_ENST00000491893.1_Silent_p.R54R			P53355	DAPK1_HUMAN	death-associated protein kinase 1	54	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAGCCGGCGGGGTGTGAGCC	0.562000									Chronic Lymphocytic Leukemia, Familial Clustering of				33	28					0	0	0.00209593	0	0
FOXS1	2307	broad.mit.edu	37	20	30433274	30433274	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:30433274G>A	ENST00000375978.3	-	1	146	c.72C>T	c.(70-72)atC>atT	p.I24I		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	24					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|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			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CAATAAGGGCGATGTAGCTGT	0.657000													31	85					0	0	0.000692331	0	0
ARID5B	84159	broad.mit.edu	37	10	63759869	63759869	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:63759869G>A	ENST00000279873.7	+	4	932	c.522G>A	c.(520-522)acG>acA	p.T174T		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	174					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AGGAAGAAACGAACGTGATAG	0.468000													15	8					0	0	0.000308642	0	0
NTNG1	22854	broad.mit.edu	37	1	108023382	108023382	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:108023382C>T	ENST00000370067.1	+	7	1930	c.1303C>T	c.(1303-1305)Cag>Tag	p.Q435*	NTNG1_ENST00000370070.2_Nonsense_Mutation_p.Q435*|NTNG1_ENST00000370074.4_Nonsense_Mutation_p.Q413*|NTNG1_ENST00000370068.1_Nonsense_Mutation_p.Q514*|NTNG1_ENST00000370061.3_Nonsense_Mutation_p.Q480*|NTNG1_ENST00000542803.1_Nonsense_Mutation_p.Q514*|NTNG1_ENST00000370071.2_Nonsense_Mutation_p.Q455*|NTNG1_ENST00000370073.2_Nonsense_Mutation_p.Q514*|NTNG1_ENST00000370072.3_Nonsense_Mutation_p.Q469*|NTNG1_ENST00000370066.1_Nonsense_Mutation_p.Q455*|NTNG1_ENST00000370065.1_Nonsense_Mutation_p.Q469*			Q9Y2I2	NTNG1_HUMAN	netrin G1	514	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CGACTCTGGCCAGGGCGCGCC	0.706000													15	23					0	0	0.00244969	0	0
TIMP4	7079	broad.mit.edu	37	3	12195213	12195213	+	Splice_Site	SNP	C	C	T	rs113114666		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:12195213C>T	ENST00000287814.4	-	5	988		c.e5-1		SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4								metal ion binding|metalloendopeptidase inhibitor activity	p.?(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						AGGTGGTGATCTAGAGTCATG	0.502000													58	164					0	0	0.000781405	0	0
BAAT	570	broad.mit.edu	37	9	104133253	104133253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:104133253C>T	ENST00000259407.2	-	2	542	c.434G>A	c.(433-435)gGc>gAc	p.G145D	BAAT_ENST00000395051.3_Missense_Mutation_p.G145D	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	145					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TCGAAGGCGGCCTTCTCGAAC	0.438000													16	92					0	0	0.000308642	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990818	39990818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:39990818C>T	ENST00000332312.3	-	4	1583	c.1391G>A	c.(1390-1392)gGc>gAc	p.G464D		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	464						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CCCAAAGCCGCCCACTCCCCA	0.647000													20	95					0	0	0.00229938	0	0
CAPN9	10753	broad.mit.edu	37	1	230883448	230883448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:230883448G>A	ENST00000354537.1	+	1	288	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	CAPN9_ENST00000271971.2_Missense_Mutation_p.R69Q|CAPN9_ENST00000366666.2_Missense_Mutation_p.R69Q|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	69	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GTGTGGAAACGACCAGGGGTG	0.622000													9	41					0	0	0.000442599	0	0
MAP1A	4130	broad.mit.edu	37	15	43815729	43815729	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:43815729G>A	ENST00000382031.1	+	5	2803	c.2772G>A	c.(2770-2772)caG>caA	p.Q924Q	MAP1A_ENST00000399453.1_Silent_p.Q686Q|MAP1A_ENST00000300231.5_Silent_p.Q686Q			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	686						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AACATATGCAGGAACCCTTGA	0.507000													11	18					0	0	0.000978159	0	0
TTN	7273	broad.mit.edu	37	2	179621438	179621438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179621438C>T	ENST00000589042.1	-	46	10989	c.10765G>A	c.(10765-10767)Gag>Aag	p.E3589K	TTN_ENST00000360870.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.E3418K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3275							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)			TTGCTCTCCTCCTTTGTGAAA	0.403000													19	19					0	0	0.000958276	0	0
TENM4	26011	broad.mit.edu	37	11	78419499	78419499	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:78419499G>A	ENST00000278550.7	-	27	4578	c.4116C>T	c.(4114-4116)atC>atT	p.I1372I		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CATTCTGATCGATGCGTCTGA	0.507000													12	13					0	0	0.00136819	0	0
RNF214	257160	broad.mit.edu	37	11	117105018	117105018	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:117105018G>A	ENST00000530849.1	+	1	40	c.30G>A	c.(28-30)gtG>gtA	p.V10V	RNF214_ENST00000531452.1_Silent_p.V10V|RNF214_ENST00000531287.1_Silent_p.V10V|RNF214_ENST00000300650.4_Silent_p.V10V			Q8ND24	RN214_HUMAN	ring finger protein 214	10							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		CTGGTGTTGTGGCCAATGCCC	0.458000													40	48					0	0	0.000781405	0	0
PSG5	5673	broad.mit.edu	37	19	43679400	43679400	+	Missense_Mutation	SNP	C	C	T	rs138033994		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:43679400C>T	ENST00000404580.1	-	4	1019	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Missense_Mutation_p.E311K|PSG5_ENST00000366175.3_Missense_Mutation_p.E311K|PSG5_ENST00000342951.6_Missense_Mutation_p.E311K|PSG5_ENST00000599812.1_Missense_Mutation_p.E404K			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	311	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTGGAGCTTTCCTTGCCAGTA	0.463000													171	150					0	0	0.000781405	0	0
SDHC	6391	broad.mit.edu	37	1	161298193	161298193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:161298193C>T	ENST00000367975.2	+	3	234	c.85C>T	c.(85-87)Cct>Tct	p.P29S	SDHC_ENST00000470743.2_3'UTR|SDHC_ENST00000342751.4_Missense_Mutation_p.P29S|SDHC_ENST00000392169.2_Intron|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000432287.2_Intron	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	29					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	TAGTGCTGTTCCTTTGGGAAC	0.368000			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome				63	120					0	0	0.000781405	0	0
NOS1	4842	broad.mit.edu	37	12	117723924	117723924	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:117723924C>T	ENST00000317775.6	-	6	1960	c.1275G>A	c.(1273-1275)caG>caA	p.Q425Q	NOS1_ENST00000338101.4_Silent_p.Q425Q|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	425					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCTTGGACCACTGGATCCTGC	0.542000													19	57					0	0	0.00152264	0	0
VAMP4	8674	broad.mit.edu	37	1	171679929	171679929	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:171679929T>A	ENST00000236192.7	-	5	576	c.190A>T	c.(190-192)Att>Ttt	p.I64F	VAMP4_ENST00000367740.2_Missense_Mutation_p.I63F|VAMP4_ENST00000415773.1_Missense_Mutation_p.I63F|VAMP4_ENST00000482519.1_5'UTR	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	64	v-SNARE coiled-coil homology.				vesicle-mediated transport	endosome|Golgi membrane|integral to membrane|lysosome				large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ATGACATCAATAACTTCATCC	0.308000													19	71					0	0	0.000958276	0	0
FOS	2353	broad.mit.edu	37	14	75747346	75747346	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:75747346G>A	ENST00000303562.4	+	3	686	c.477G>A	c.(475-477)agG>agA	p.R159R	FOS_ENST00000555686.1_Silent_p.R45R|FOS_ENST00000555242.1_Silent_p.R159R|FOS_ENST00000535987.1_Intron|FOS_ENST00000555347.1_Silent_p.R11R	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	159					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		ACCGGAGGAGGGAGCTGACTG	0.453000													9	36					0	0	0.000442599	0	0
GRIA1	2890	broad.mit.edu	37	5	153077667	153077667	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:153077667G>A	ENST00000285900.5	+	9	1541	c.1198G>A	c.(1198-1200)Gat>Aat	p.D400N	GRIA1_ENST00000521843.2_Missense_Mutation_p.D331N|GRIA1_ENST00000518783.1_Missense_Mutation_p.D410N|GRIA1_ENST00000518142.1_Missense_Mutation_p.D320N|GRIA1_ENST00000448073.4_Missense_Mutation_p.D410N|GRIA1_ENST00000340592.5_Missense_Mutation_p.D400N	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	400					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGCTGGGGGCGATAATTCAAG	0.478000													16	23					0	0	0.000566183	0	0
COL1A2	1278	broad.mit.edu	37	7	94055744	94055744	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:94055744G>A	ENST00000297268.6	+	46	3478	c.3007G>A	c.(3007-3009)Ggc>Agc	p.G1003S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1003			G -> D (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGGCCCACAAGGCATTCGTGG	0.468000										HNSCC(75;0.22)			16	1					0	0	0.000422831	0	0
LIPG	9388	broad.mit.edu	37	18	47101752	47101752	+	Silent	SNP	C	C	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:47101752C>G	ENST00000261292.4	+	5	863	c.585C>G	c.(583-585)gcC>gcG	p.A195A	LIPG_ENST00000427224.2_Intron|LIPG_ENST00000577628.1_Silent_p.A231A|LIPG_ENST00000580036.1_Silent_p.A195A	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	195					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TGGATCCTGCCGGGCCCATGT	0.552000													11	57					0	0	0.000978159	0	0
SPTBN4	57731	broad.mit.edu	37	19	41063071	41063071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:41063071G>A	ENST00000352632.3	+	26	5518	c.5432G>A	c.(5431-5433)gGa>gAa	p.G1811E	SPTBN4_ENST00000598249.1_Missense_Mutation_p.G1811E|SPTBN4_ENST00000595535.1_Missense_Mutation_p.G1811E|SPTBN4_ENST00000392025.1_Missense_Mutation_p.G554E|SPTBN4_ENST00000338932.3_Missense_Mutation_p.G1811E|SPTBN4_ENST00000392023.1_Missense_Mutation_p.G487E			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1811					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGAAGGACGGACTGAACGAG	0.637000													25	35					0	0	0.00106085	0	0
ATM	472	broad.mit.edu	37	11	108115720	108115720	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:108115720C>T	ENST00000278616.4	+	7	1253	c.868C>T	c.(868-870)Cat>Tat	p.H290Y	ATM_ENST00000452508.2_Missense_Mutation_p.H290Y	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	290					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AATTTATATCCATCATCCGAA	0.294000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			8	27					0	0	0.000274275	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249705	140249705	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140249705C>T	ENST00000398640.2	+	1	1017	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGAAATCTTGGACACCA	0.493000													30	17					0	0	0.00209593	0	0
TMEM82	388595	broad.mit.edu	37	1	16069534	16069534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:16069534G>A	ENST00000375782.1	+	3	319	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	RP11-169K16.4_ENST00000418525.1_RNA|TMEM82_ENST00000465575.1_3'UTR	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	61	Leu-rich.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCGGCGACCCGAAAAGGAGCG	0.697000													23	85					0	0	0.00106085	0	0
TRPC6	7225	broad.mit.edu	37	11	101347198	101347198	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:101347198C>T	ENST00000344327.3	-	6	2002	c.1578G>A	c.(1576-1578)tgG>tgA	p.W526*	TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000348423.4_Nonsense_Mutation_p.W410*|TRPC6_ENST00000360497.4_Nonsense_Mutation_p.W471*	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	526					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CAAGCATGTTCCACAACTCAA	0.413000													22	24					0	0	0.00152264	0	0
RHOU	58480	broad.mit.edu	37	1	228879431	228879431	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:228879431G>A	ENST00000366691.3	+	3	1387	c.721G>A	c.(721-723)Gat>Aat	p.D241N		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	241					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				CAGGACTCCAGATAAAATGAA	0.438000													28	118					0	0	0.00178596	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74907720	74907720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:74907720G>A	ENST00000289575.5	+	10	1990	c.1595G>A	c.(1594-1596)aGc>aAc	p.S532N	SLCO2B1_ENST00000532236.1_Missense_Mutation_p.S416N|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.S510N|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.S277N|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.S388N|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.S305N|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.S305N	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	532	Kazal-like.				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CTGGACAACAGCCAGGTGAGT	0.602000													8	14					0	0	0.000157383	0	0
FRAS1	80144	broad.mit.edu	37	4	79173594	79173594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:79173594C>T	ENST00000264895.6	+	5	798	c.358C>T	c.(358-360)Cat>Tat	p.H120Y	FRAS1_ENST00000325942.6_Missense_Mutation_p.H120Y|FRAS1_ENST00000264899.6_Missense_Mutation_p.H120Y	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	120	VWFC 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTCTTGCAATCATGGGGAAGT	0.517000													17	37					0	0	0.000958276	0	0
ZFHX3	463	broad.mit.edu	37	16	72992847	72992847	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:72992847G>A	ENST00000268489.5	-	2	1870	c.1198C>T	c.(1198-1200)Ctg>Ttg	p.L400L	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	400					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)				AGGTTCAACAGGGTGCTGGGG	0.622000													31	70					0	0	0.00127121	0	0
DMRTB1	63948	broad.mit.edu	37	1	53927229	53927229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:53927229C>T	ENST00000371445.3	+	2	716	c.661C>T	c.(661-663)Ccg>Tcg	p.P221S	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	221	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CTGCCCGTTCCCGCTGGGCTA	0.657000													23	67					0	0	0.00188189	0	0
DNAH17	8632	broad.mit.edu	37	17	76526587	76526587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:76526587G>A	ENST00000389840.5	-	21	3246	c.3122C>T	c.(3121-3123)tCc>tTc	p.S1041F	DNAH17_ENST00000585328.1_Missense_Mutation_p.S1038F					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTTCTCGTAGGAGTCGATCTG	0.632000													21	110					0	0	0.00047179	0	0
SPAG17	200162	broad.mit.edu	37	1	118624093	118624093	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:118624093C>T	ENST00000336338.5	-	14	2000	c.1935G>A	c.(1933-1935)caG>caA	p.Q645Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	645						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCTGCCTTATCTGTTTAGCAA	0.413000													30	136					0	0	0.00178596	0	0
FGA	2243	broad.mit.edu	37	4	155505773	155505773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:155505773C>T	ENST00000302053.3	-	6	2182	c.2104G>A	c.(2104-2106)Gag>Aag	p.E702K		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	702	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCTTCCCCCTCGTCATTCAGG	0.488000													22	50					0	0	0.00229938	0	0
KCTD3	51133	broad.mit.edu	37	1	215793804	215793804	+	Silent	SNP	C	C	T	rs149998746	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:215793804C>T	ENST00000259154.4	+	18	2586	c.2292C>T	c.(2290-2292)ttC>ttT	p.F764F	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	764						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GGGGAGGATTCCTTGGAAGAA	0.423000													10	64					0	0	0.000673444	0	0
TBX5	6910	broad.mit.edu	37	12	114836398	114836398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:114836398G>A	ENST00000310346.4	-	5	1156	c.490C>T	c.(490-492)Cac>Tac	p.H164Y	TBX5_ENST00000526441.1_Missense_Mutation_p.H164Y|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000349716.5_Missense_Mutation_p.H114Y|TBX5_ENST00000405440.2_Missense_Mutation_p.H164Y	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	164					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGGTCCAGGTGGTTGTTGGTG	0.602000													8	17					0	0	0.000274275	0	0
AGO2	27161	broad.mit.edu	37	8	141545600	141545600	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:141545600G>A	ENST00000220592.5	-	17	2350	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	AGO2_ENST00000519980.1_Intron	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		GGTAGAAGTCGAACTCGGTGG	0.562000													28	79					0	0	0.00209593	0	0
SBF1	6305	broad.mit.edu	37	22	50906822	50906822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:50906822G>A	ENST00000380817.2	-	2	307	c.124C>T	c.(124-126)Ccc>Tcc	p.P42S	SBF1_ENST00000390679.3_Missense_Mutation_p.P42S|SBF1_ENST00000348911.6_Missense_Mutation_p.P42S	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	42	UDENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	p.P42S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ATGCCCTGGGGGAATGGGTTG	0.657000													4	27					0	0	0.000602214	0	0
PTPN3	5774	broad.mit.edu	37	9	112151520	112151520	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:112151520C>T	ENST00000412145.1	-	17	4406	c.1853G>A	c.(1852-1854)cGa>cAa	p.R618Q	PTPN3_ENST00000497739.1_5'UTR|PTPN3_ENST00000394827.3_Missense_Mutation_p.R217Q|PTPN3_ENST00000262539.3_Missense_Mutation_p.R595Q|PTPN3_ENST00000374541.2_Missense_Mutation_p.R749Q|PTPN3_ENST00000446349.1_Missense_Mutation_p.R573Q	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	749					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TACCCGCCCTCGTTCTGTGAG	0.512000													13	30					0	0	0.00244969	0	0
THEG	51298	broad.mit.edu	37	19	374006	374006	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:374006C>T	ENST00000342640.4	-	3	479	c.437G>A	c.(436-438)gGa>gAa	p.G146E	THEG_ENST00000346878.2_Intron	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	146					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		ACCACAGCGTCCCTTCCTGCG	0.607000													13	6					0	0	0.000308642	0	0
MYH6	4624	broad.mit.edu	37	14	23863047	23863047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:23863047G>A	ENST00000405093.3	-	22	2826	c.2756C>T	c.(2755-2757)gCc>gTc	p.A919V	MYH6_ENST00000356287.3_Missense_Mutation_p.A919V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	919					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.A919V(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTTTACTTTGGCCTCCAGCTG	0.527000													28	78					0	0	0.000720815	0	0
HCN1	348980	broad.mit.edu	37	5	45303919	45303919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:45303919C>T	ENST00000303230.4	-	6	1457	c.1400G>A	c.(1399-1401)cGg>cAg	p.R467Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	467						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CACCAGTTTCCGACAGTTGAA	0.358000													12	46					0	0	0.00185496	0	0
OR51G2	81282	broad.mit.edu	37	11	4936407	4936407	+	Missense_Mutation	SNP	G	G	A	rs35090253		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:4936407G>A	ENST00000322013.3	-	1	515	c.487C>T	c.(487-489)Cca>Tca	p.P163S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGGTAATGGAAAAATGAGT	0.473000													8	10					0	0	0.000274275	0	0
AFP	174	broad.mit.edu	37	4	74303947	74303947	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:74303947A>T	ENST00000395792.2	+	3	294	c.194A>T	c.(193-195)aAa>aTa	p.K65I	AFP_ENST00000226359.2_Missense_Mutation_p.K65I	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	65	Albumin 1.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAAGTAAGCAAAATGGTGAAA	0.393000									Alpha-Fetoprotein, Hereditary Persistence of				16	29					0	0	0.000422831	0	0
BPIFA1	51297	broad.mit.edu	37	20	31825584	31825584	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:31825584G>A	ENST00000354297.4	+	2	138	c.67G>A	c.(67-69)Ggc>Agc	p.G23S	BPIFA1_ENST00000375413.4_Missense_Mutation_p.G23S|BPIFA1_ENST00000375422.2_Missense_Mutation_p.G23S	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	23					innate immune response	extracellular region	lipid binding										CCAGTTTGGAGGCCTGCCCGT	0.547000													17	64					0	0	0.00074312	0	0
LAMA1	284217	broad.mit.edu	37	18	6966186	6966186	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:6966186G>A	ENST00000389658.3	-	49	7103	c.7010C>T	c.(7009-7011)tCa>tTa	p.S2337L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2337	Laminin G-like 2.				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			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)	TCCATTAGGTGAAAAGGTATT	0.473000													10	45					0	0	0.000442599	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95119555	95119555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:95119555C>T	ENST00000379982.3	+	10	2019	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	GLRX_ENST00000508780.1_Intron|GLRX_ENST00000507605.1_Intron|RHOBTB3_ENST00000504179.1_Missense_Mutation_p.S135F	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	504	Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TACCAAGTGTCCAGACTGCAG	0.483000													52	111					0	0	0.000781405	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987681	50987681	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:50987681C>T	ENST00000395676.2	+	1	1220	c.1086C>T	c.(1084-1086)atC>atT	p.I362I		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	362										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGGGGGGCATCCGTGGCTCCG	0.662000													21	117					0	0	0.00229938	0	0
LATS1	9113	broad.mit.edu	37	6	150004522	150004522	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:150004522G>A	ENST00000543571.1	-	4	2250	c.1703C>T	c.(1702-1704)cCa>cTa	p.P568L	LATS1_ENST00000253339.5_Missense_Mutation_p.P568L|LATS1_ENST00000392273.3_Missense_Mutation_p.P568L|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	568	Interaction with YAP1.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AGGAACAGATGGGTTTTGGTG	0.468000													48	58					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179605086	179605086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179605086G>A	ENST00000589042.1	-	48	13098	c.12874C>T	c.(12874-12876)Cct>Tct	p.P4292S	TTN_ENST00000591111.1_Missense_Mutation_p.P3975S|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P4054S|TTN_ENST00000342175.6_Missense_Mutation_p.P4121S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.P3929S|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3975	Ig-like 23.						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)			TGTTCTGAAGGGACTAGGGGC	0.473000													11	14					0	0	0.000673444	0	0
CACNA1E	777	broad.mit.edu	37	1	181762920	181762920	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:181762920G>A	ENST00000357570.5	+	45	6183	c.5871G>A	c.(5869-5871)gtG>gtA	p.V1957V	CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000360108.3_Silent_p.V1987V|CACNA1E_ENST00000367573.2_Silent_p.V2006V|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000526775.1_Intron			Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2006					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						GTCTGACTGTGGATCCCCAGG	0.502000													16	24					0	0	0.000958276	0	0
GTSF1	121355	broad.mit.edu	37	12	54856450	54856450	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:54856450G>A	ENST00000552397.1	-	5	1200	c.304C>T	c.(304-306)Cct>Tct	p.P102S	GTSF1_ENST00000552395.1_5'UTR|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000305879.5_Missense_Mutation_p.P102S|RP11-753H16.5_ENST00000552785.1_RNA			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	102							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				TCATCGCAAGGAGGGCACTGC	0.438000													42	83					0	0	0.000781405	0	0
BRINP1	1620	broad.mit.edu	37	9	121929824	121929824	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:121929824C>T	ENST00000265922.3	-	8	2285	c.1824G>A	c.(1822-1824)tgG>tgA	p.W608*	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		608					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						AAAATGTTTTCCACCGATTGC	0.557000													40	105					0	0	0.00148497	0	0
MRPL1	65008	broad.mit.edu	37	4	78808408	78808408	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:78808408G>T	ENST00000315567.8	+	5	850	c.521G>T	c.(520-522)gGa>gTa	p.G174V	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	174							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						GAAGAAAATGGAGCTGCATTT	0.328000													12	32					4.3838e-07	1.61143e-06	0.00185496	1	0
GLI3	2737	broad.mit.edu	37	7	42004030	42004030	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:42004030G>A	ENST00000395925.3	-	15	4725	c.4641C>T	c.(4639-4641)ttC>ttT	p.F1547F	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1547					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ACAGCGCTGGGAATGGGAGGG	0.567000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				9	60					0	0	0.000673444	0	0
EXD3	54932	broad.mit.edu	37	9	140245817	140245817	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:140245817G>A	ENST00000340951.4	-	13	1532	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	EXD3_ENST00000342129.4_Missense_Mutation_p.S126F	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	446					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CACCAGCCGGGAAAAGGCCTG	0.672000													11	26					0	0	0.00185496	0	0
PAPSS2	9060	broad.mit.edu	37	10	89474791	89474791	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:89474791C>A	ENST00000361175.4	+	6	1058	c.689C>A	c.(688-690)cCg>cAg	p.P230Q	PAPSS2_ENST00000456849.1_Missense_Mutation_p.P230Q|PAPSS2_ENST00000427144.2_Missense_Mutation_p.P234Q	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	230					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CTCTTTGTGCCGGAAAACAAA	0.378000													12	17					4.93089e-13	1.81953e-12	0.00244969	1	0
EPPK1	83481	broad.mit.edu	37	8	144940898	144940898	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:144940898T>C	ENST00000525985.1	-	2	6595	c.6524A>G	c.(6523-6525)cAa>cGa	p.Q2175R				P58107	EPIPL_HUMAN	epiplakin 1	2175						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTAATTCCTTGGAACCACAG	0.517000													76	258					0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13920608	13920608	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:13920608C>A	ENST00000265104.4	-	6	883	c.779G>T	c.(778-780)tGg>tTg	p.W260L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	260	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGTTTGATCCATACTTTCAT	0.398000									Kartagener syndrome				27	94					7.07758e-08	2.60527e-07	0.000720815	1	0
FLT1	2321	broad.mit.edu	37	13	29008336	29008336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:29008336G>A	ENST00000282397.4	-	5	786	c.535C>T	c.(535-537)Cct>Tct	p.P179S	FLT1_ENST00000539099.1_Missense_Mutation_p.P179S|FLT1_ENST00000541932.1_Missense_Mutation_p.P179S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	179	Ig-like C2-type 2.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTTCCATCAGGGATCAAAGTG	0.418000													11	18					0	0	0.00136819	0	0
C1orf173	127254	broad.mit.edu	37	1	75055375	75055375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:75055375C>T	ENST00000326665.5	-	12	2334	c.2116G>A	c.(2116-2118)Gaa>Aaa	p.E706K	C1orf173_ENST00000420661.2_Missense_Mutation_p.E509K	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	706	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTGCTTTCTTCCCAAAGCTTA	0.478000													37	127					0	0	0.00111076	0	0
ACVR2A	92	broad.mit.edu	37	2	148654035	148654035	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:148654035T>G	ENST00000241416.7	+	2	857	c.221T>G	c.(220-222)gTg>gGg	p.V74G	ACVR2A_ENST00000535787.1_5'UTR|ACVR2A_ENST00000404590.1_Missense_Mutation_p.V74G	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	74					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		ATTGAAATAGTGAAACAAGGT	0.378000													14	61					0	0	0.000422831	0	0
CFAP54	144535	broad.mit.edu	37	12	97043759	97043759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:97043759C>T	ENST00000524981.3	+	2	134	c.134C>T	c.(133-135)tCa>tTa	p.S45L				Q6ZTY8	CL063_HUMAN		19										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GACTCTCAATCAGGTTCTAGT	0.338000													46	25					0	0	0.000781405	0	0
KAT6B	23522	broad.mit.edu	37	10	76784832	76784832	+	Silent	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:76784832A>C	ENST00000287239.4	+	17	3978	c.3489A>C	c.(3487-3489)tcA>tcC	p.S1163S	KAT6B_ENST00000372711.1_Silent_p.S980S|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372724.1_Silent_p.S871S|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372725.1_Silent_p.S871S|KAT6B_ENST00000372714.1_Silent_p.S871S	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1163					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TTGACAACTCAGATGAAGAGA	0.493000													16	24					0	0	0.000566183	0	0
FAM71B	153745	broad.mit.edu	37	5	156592780	156592780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:156592780C>T	ENST00000302938.4	-	1	495	c.400G>A	c.(400-402)Gat>Aat	p.D134N		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	134						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCTCATGATCGTGGATGGAG	0.527000													116	347					0	0	0.000781405	0	0
CCKAR	886	broad.mit.edu	37	4	26491787	26491787	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:26491787G>A	ENST00000295589.3	-	1	297	c.103C>T	c.(103-105)Cct>Tct	p.P35S		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	35					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	CCTTTGGAAGGACGGGGCTGA	0.438000													11	31					0	0	0.00136819	0	0
MAPK15	225689	broad.mit.edu	37	8	144801597	144801597	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:144801597C>T	ENST00000338033.4	+	7	785	c.666C>T	c.(664-666)tcC>tcT	p.S222S	MAPK15_ENST00000395108.2_Silent_p.S222S|MAPK15_ENST00000395107.4_Silent_p.S239S	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	222	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCGGCACGTCCACCCTCCACC	0.662000													14	39					0	0	0.00121646	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156631897	156631897	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:156631897G>A	ENST00000296518.7	+	6	789	c.580G>A	c.(580-582)Gat>Aat	p.D194N	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.D194N|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.D194N|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.D194N|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.D194N|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.D194N			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	194					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.D194fs*2(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TCTATGCCTGGATAAGGAGGA	0.453000													10	39					0	0	0.000442599	0	0
KCNH8	131096	broad.mit.edu	37	3	19575308	19575308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:19575308C>T	ENST00000328405.2	+	16	3307	c.3041C>T	c.(3040-3042)cCa>cTa	p.P1014L		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1014	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TGCATCTCTCCACATTCAGAT	0.448000													38	142					0	0	0.0025221	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38709444	38709444	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:38709444C>T	ENST00000417039.1	-	0	696																											TCCAGGGGCACCATTGAAATC	0.537000													10	36					0	0	0.000978159	0	0
MYOCD	93649	broad.mit.edu	37	17	12655993	12655993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:12655993C>T	ENST00000425538.1	+	10	1588	c.1388C>T	c.(1387-1389)tCt>tTt	p.S463F	MYOCD_ENST00000395988.1_Missense_Mutation_p.S367F|MYOCD_ENST00000343344.4_Missense_Mutation_p.S463F	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	463	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCAGCCTCCTCTGACCTGTCA	0.622000													19	24					0	0	0.00121646	0	0
GRB14	2888	broad.mit.edu	37	2	165353883	165353883	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:165353883C>T	ENST00000263915.3	-	10	1760		c.e10+1		GRB14_ENST00000543549.1_Splice_Site	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14						blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GCTACTTGTACCCTCCAAGCG	0.408000													46	38					0	0	0.000781405	0	0
CCDC13	152206	broad.mit.edu	37	3	42775094	42775094	+	Missense_Mutation	SNP	C	C	A	rs143411503		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:42775094C>A	ENST00000310232.6	-	11	1462	c.1379G>T	c.(1378-1380)cGg>cTg	p.R460L	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	460										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TCCTTTATTCCGAAGATACTG	0.587000													5	72					0.00198382	0.00723911	0.00198382	1	0
FBN2	2201	broad.mit.edu	37	5	127681079	127681079	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:127681079C>T	ENST00000508053.1	-	30	4161	c.3187G>A	c.(3187-3189)Gat>Aat	p.D1063N	FBN2_ENST00000508989.1_Missense_Mutation_p.D1030N|FBN2_ENST00000262464.4_Missense_Mutation_p.D1063N			P35556	FBN2_HUMAN	fibrillin 2	1063					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTAAGAACATCCCCTCGGTTA	0.597000													31	71					0	0	0.00283554	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76878020	76878020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:76878020C>T	ENST00000328299.3	+	3	689	c.541C>T	c.(541-543)Ccg>Tcg	p.P181S	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	181					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TGGTATCTATCCGAATGCCCA	0.423000													12	38					0	0	0.00244969	0	0
BPIFA3	128861	broad.mit.edu	37	20	31812911	31812911	+	Missense_Mutation	SNP	G	G	A	rs150349800	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:31812911G>A	ENST00000375454.3	+	4	604	c.394G>A	c.(394-396)Gat>Aat	p.D132N	BPIFA3_ENST00000375452.3_Missense_Mutation_p.D96N|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	132						extracellular region	lipid binding										CAGGTCCTTCGATAACAACAT	0.507000													23	126					0	0	0.00047179	0	0
NCOR2	9612	broad.mit.edu	37	12	124835140	124835140	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:124835140G>A	ENST00000356219.3	-	29	4013	c.3858C>T	c.(3856-3858)tcC>tcT	p.S1286S	NCOR2_ENST00000404121.2_Silent_p.S840S|NCOR2_ENST00000397355.1_Silent_p.S1270S|NCOR2_ENST00000405201.1_Silent_p.S1279S|NCOR2_ENST00000404621.1_Silent_p.S1269S|NCOR2_ENST00000429285.2_Silent_p.S1269S	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1287					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CACCCTCATAGGACAAGACGT	0.642000													24	75					0	0	0.000878237	0	0
SETBP1	26040	broad.mit.edu	37	18	42531786	42531786	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:42531786G>A	ENST00000282030.5	+	4	2777	c.2481G>A	c.(2479-2481)tgG>tgA	p.W827*		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	827						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GTGGAACCTGGAAGCTGTCTC	0.507000									Schinzel-Giedion syndrome				14	71					0	0	0.000566183	0	0
KCNG2	26251	broad.mit.edu	37	18	77624240	77624240	+	Silent	SNP	C	C	T	rs140218057	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:77624240C>T	ENST00000316249.3	+	1	573	c.573C>T	c.(571-573)gcC>gcT	p.A191A		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	191					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCGTCACGGCCGTGGGCCTCT	0.771000													9	43					0	0	0.000978159	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139599	3139599	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:3139599C>T	ENST00000252463.2	-	5	1758	c.1671G>A	c.(1669-1671)ggG>ggA	p.G557G	ZSCAN10_ENST00000538082.2_Silent_p.G475G|ZSCAN10_ENST00000575108.1_Silent_p.G218G	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	557					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CGAAACTCTTCCCGCACTGGG	0.711000													6	9					0	0	0.00116845	0	0
ABCA3	21	broad.mit.edu	37	16	2373621	2373621	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:2373621G>A	ENST00000301732.5	-	7	1216	c.516C>T	c.(514-516)ttC>ttT	p.F172F	ABCA3_ENST00000382381.3_Silent_p.F172F|ABCA3_ENST00000567910.1_Silent_p.F172F	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	172					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.F172F(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TCTCTTTCAGGAAAAAGGAGC	0.498000													95	249					0	0	0.000781405	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48873632	48873632	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:48873632G>A	ENST00000394754.1	+	8	2655	c.2541G>A	c.(2539-2541)gaG>gaA	p.E847E	GTF2A1L_ENST00000403751.3_Silent_p.E143E|STON1-GTF2A1L_ENST00000309827.2_Silent_p.E847E|GTF2A1L_ENST00000430487.2_Silent_p.E109E|LHCGR_ENST00000420913.3_5'UTR|STON1-GTF2A1L_ENST00000405008.1_Silent_p.E847E|STON1-GTF2A1L_ENST00000394751.3_Silent_p.E800E|STON1-GTF2A1L_ENST00000402114.2_Silent_p.E847E|GTF2A1L_ENST00000468326.1_3'UTR	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		800					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.E847E(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGGTGACAGAGACTTCTGGAA	0.353000													35	50					0	0	0.00128727	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685875	125685875	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:125685875G>A	ENST00000371126.1	-	1	959	c.717C>T	c.(715-717)ctC>ctT	p.L239L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	239										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CATATACGGGGAGACCCACCT	0.667000													17	16					0	0	0.00074312	0	0
GCDH	2639	broad.mit.edu	37	19	13006835	13006835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:13006835C>T	ENST00000222214.5	+	7	746	c.535C>T	c.(535-537)Ctc>Ttc	p.L179F	GCDH_ENST00000457854.1_Missense_Mutation_p.L179F|GCDH_ENST00000591470.1_Missense_Mutation_p.L179F|GCDH_ENST00000422947.2_Missense_Mutation_p.L135F			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	179			L -> R (in GA1).		lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						CTGCTTCGGGCTCACAGAGCC	0.562000													31	94					0	0	0.001512	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161163089	161163089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:161163089G>A	ENST00000367996.4	-	7	2253	c.1825C>T	c.(1825-1827)Cgc>Tgc	p.R609C		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	609	Cys-rich.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCTGTGTAGCGAGGAACCCAG	0.642000													16	72					0	0	0.000566183	0	0
GLI3	2737	broad.mit.edu	37	7	42005516	42005516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:42005516G>A	ENST00000395925.3	-	15	3239	c.3155C>T	c.(3154-3156)cCc>cTc	p.P1052L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1052					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCCGCCCTCGGGCCGCGTGTA	0.657000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				31	50					0	0	0.00178596	0	0
SCN1A	6323	broad.mit.edu	37	2	166892893	166892893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:166892893C>T	ENST00000423058.2	-	16	3111	c.3094G>A	c.(3094-3096)Gaa>Aaa	p.E1032K	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.E1021K|SCN1A_ENST00000303395.4_Missense_Mutation_p.E1032K|SCN1A_ENST00000409050.1_Missense_Mutation_p.E1004K	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1032						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGAATAAATTCATATATTTTT	0.323000													16	45					0	0	0.000566183	0	0
SNHG14	104472715	broad.mit.edu	37	15	25456896	25456896	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:25456896C>T	ENST00000424208.1	+	0	2516				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						GTGAGCACATCCGGGTCCCGC	0.572000													19	29					0	0	0.00074312	0	0
PAPPA	5069	broad.mit.edu	37	9	118950233	118950233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:118950233C>T	ENST00000328252.3	+	2	1585	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	406	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTCCTCCCTTCGCCGCCGCCT	0.612000													32	51					0	0	0.000953801	0	0
PTK6	5753	broad.mit.edu	37	20	62164928	62164928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:62164928C>T	ENST00000217185.2	-	4	673	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	PTK6_ENST00000542869.1_Missense_Mutation_p.V115M	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	216	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			TTAATGGCCACCTGGACCCGG	0.657000													20	59					0	0	0.00121646	0	0
SP140	11262	broad.mit.edu	37	2	231150529	231150529	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:231150529G>A	ENST00000392045.3	+	17	1741	c.1627G>A	c.(1627-1629)Gac>Aac	p.D543N	SP140_ENST00000343805.6_Missense_Mutation_p.D483N|SP140_ENST00000417495.3_Missense_Mutation_p.D429N|SP140_ENST00000350136.5_Missense_Mutation_p.D412N|SP140_ENST00000486687.2_Missense_Mutation_p.D467N|SP140_ENST00000420434.3_Missense_Mutation_p.D516N	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	543					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAATCTGAAAGACCTTTCCAA	0.453000													52	48					0	0	0.000781405	0	0
SULT2A1	6822	broad.mit.edu	37	19	48386958	48386958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:48386958C>T	ENST00000222002.3	-	2	360	c.221G>A	c.(220-222)cGa>cAa	p.R74Q		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	74					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		CCAGGGTGATCGCTCCCAGAT	0.517000													11	50					0	0	0.000978159	0	0
OSBP2	23762	broad.mit.edu	37	22	31286766	31286766	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:31286766G>A	ENST00000332585.6	+	8	1779	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K	OSBP2_ENST00000437268.2_Missense_Mutation_p.E301K|OSBP2_ENST00000401475.1_Missense_Mutation_p.E192K|OSBP2_ENST00000407373.1_Missense_Mutation_p.E386K|OSBP2_ENST00000446658.2_Missense_Mutation_p.E558K|OSBP2_ENST00000403222.3_Missense_Mutation_p.E393K|OSBP2_ENST00000535268.1_Missense_Mutation_p.E103K|OSBP2_ENST00000382310.3_Missense_Mutation_p.E510K	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	559					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						AGAGGACCTGGAGTACCACCA	0.627000											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	70					0	0	0.000978159	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677213	37677213	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:37677213G>A	ENST00000532828.2	-	5	1477	c.1226C>T	c.(1225-1227)tCg>tTg	p.S409L	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S354L	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCATATATACGATTTTTCTCC	0.423000													40	52					0	0	0.00148497	0	0
IGHV4-61	28391	broad.mit.edu	37	14	107095457	107095457	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:107095457G>A	ENST00000390630.2	-	0	147																											GACCCACAGTGAGCCCTGGGA	0.617000													26	17					0	0	0.000720815	0	0
FBN3	84467	broad.mit.edu	37	19	8188870	8188870	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:8188870G>A	ENST00000600128.1	-	23	3168	c.2754C>T	c.(2752-2754)ttC>ttT	p.F918F	FBN3_ENST00000601739.1_Silent_p.F918F|FBN3_ENST00000270509.2_Silent_p.F918F			Q75N90	FBN3_HUMAN	fibrillin 3	918	TB 5.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCATCGCAGGAAACATGGTT	0.637000													7	23					0	0	0.00198382	0	0
EOGT	285203	broad.mit.edu	37	3	69028912	69028912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:69028912C>T	ENST00000383701.3	-	16	1983	c.1241G>A	c.(1240-1242)aGg>aAg	p.R414K	EOGT_ENST00000540764.1_Missense_Mutation_p.R313K|EOGT_ENST00000295571.5_Missense_Mutation_p.R330K|EOGT_ENST00000540955.1_Missense_Mutation_p.R138K	NM_001278689.1	NP_001265618.1			EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase																		GTGTGTGATCCTTAGTTGATC	0.403000													25	16					0	0	0.000586117	0	0
OR51I1	390063	broad.mit.edu	37	11	5462682	5462682	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:5462682C>T	ENST00000380211.1	-	1	62	c.63G>A	c.(61-63)ggG>ggA	p.G21G	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTTTGTATCCCAGGAATGC	0.522000													8	8					0	0	0.00136819	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64717044	64717044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:64717044G>A	ENST00000338957.4	+	2	708	c.641G>A	c.(640-642)gGa>gAa	p.G214E	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.G203E	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	203							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCTGCAGAGGAATACAACTT	0.408000													14	2					0	0	0.000308642	0	0
KCNH7	90134	broad.mit.edu	37	2	163241264	163241264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:163241264C>T	ENST00000332142.5	-	13	2995	c.2896G>A	c.(2896-2898)Gat>Aat	p.D966N		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	966					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCTTCAAAATCGAGCCCAGAT	0.438000													29	34					0	0	0.00106085	0	0
CDC34	997	broad.mit.edu	37	19	535852	535852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:535852C>T	ENST00000215574.4	+	2	411	c.193C>T	c.(193-195)Ccc>Tcc	p.P65S		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	65					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCTCAAGTTCCCCATCGACTA	0.637000													77	259					0	0	0.000781405	0	0
INSRR	3645	broad.mit.edu	37	1	156821858	156821858	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:156821858G>A	ENST00000368195.3	-	3	1159	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	255					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGGCACCCTGGAAGTAGAGG	0.667000													6	37					0	0	0.00116845	0	0
CCDC144CP	348254	broad.mit.edu	37	17	20224845	20224845	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:20224845C>T	ENST00000580225.1	+	0	105				CCDC144CP_ENST00000340196.4_RNA																							TAGACCAGCCCCAGCACGATG	0.652000													50	85					0	0	0.000781405	0	0
COL5A1	1289	broad.mit.edu	37	9	137622301	137622301	+	Missense_Mutation	SNP	G	G	A	rs148288567		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:137622301G>A	ENST00000371817.3	+	7	1558	c.1144G>A	c.(1144-1146)Gac>Aac	p.D382N		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	382	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAGCACCGCCGACACCTCCAA	0.622000													12	65					0	0	0.00136819	0	0
GUCY2C	2984	broad.mit.edu	37	12	14822671	14822671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:14822671C>T	ENST00000261170.3	-	10	1403	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	423					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CCTGTAATATCATTAGGAAGT	0.388000													19	48					0	0	0.00188189	0	0
UBLCP1	134510	broad.mit.edu	37	5	158699032	158699032	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:158699032C>T	ENST00000296786.6	+	6	776	c.448_splice	c.e6-1	p.D150_splice		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	150	FCP1 homology.					nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTTTTAGACCACAGGTCTT	0.303000													15	38					0	0	0.000308642	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719522	50719522	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:50719522G>A	ENST00000449103.1	-	23	3899	c.3759C>T	c.(3757-3759)ttC>ttT	p.F1253F	PLXNB2_ENST00000359337.4_Silent_p.F1253F			O15031	PLXB2_HUMAN	plexin B2	1253					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCTACCTGTGAATTCCTTCT	0.662000													5	25					0	0	0.000602214	0	0
SP140L	93349	broad.mit.edu	37	2	231222606	231222606	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:231222606C>T	ENST00000243810.6	+	3	194	c.194C>T	c.(193-195)tCa>tTa	p.S65L	SP140L_ENST00000396563.4_Missense_Mutation_p.S65L|SP140L_ENST00000444636.1_Missense_Mutation_p.S65L|SP140L_ENST00000458341.1_5'UTR|SP140L_ENST00000415673.2_Missense_Mutation_p.S65L|SP140_ENST00000486687.2_3'UTR			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	65	HSR.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CTGGAGATATCAAATGCAATA	0.393000													127	156					0	0	0.000781405	0	0
COL7A1	1294	broad.mit.edu	37	3	48616938	48616938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:48616938C>T	ENST00000328333.8	-	59	5353	c.5246G>A	c.(5245-5247)gGg>gAg	p.G1749E	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1749E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1749	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCCCGAAACCCTTCAATGCC	0.607000													13	38					0	0	0.00185496	0	0
TSSC4	10078	broad.mit.edu	37	11	2424683	2424683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:2424683C>T	ENST00000333256.6	+	3	1263	c.820C>T	c.(820-822)Cac>Tac	p.H274Y	TSSC4_ENST00000451491.2_Missense_Mutation_p.H274Y|TSSC4_ENST00000380992.1_Intron|TSSC4_ENST00000467308.1_Intron|TSSC4_ENST00000380996.5_Missense_Mutation_p.H210Y			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	274			H -> P (in dbSNP:rs2234283).							endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGGGGCAGCCACCATGGAGG	0.687000													61	66					0	0	0.000781405	0	0
SNTG2	54221	broad.mit.edu	37	2	1204876	1204876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:1204876G>A	ENST00000308624.5	+	9	808	c.679G>A	c.(679-681)Gct>Act	p.A227T	SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Missense_Mutation_p.A100T	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	227					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TCTGTCCATGGCTCGCATCTC	0.527000													32	143					0	0	0.00283554	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332404	100332404	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:100332404G>A	ENST00000341853.1	-	0	1787					NR_003260.1																						GCTCCAGAGTGGCCTTATGGA	0.542000													36	59					0	0	0.00111076	0	0
DHCR7	1717	broad.mit.edu	37	11	71152291	71152291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:71152291G>A	ENST00000355527.3	-	6	884	c.608C>T	c.(607-609)cCc>cTc	p.P203L	DHCR7_ENST00000407721.2_Missense_Mutation_p.P203L	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	203					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GGCGCTGGTGGGGAAGAAGTA	0.577000									Smith-Lemli-Opitz syndrome				12	29					0	0	0.00136819	0	0
MYH4	4622	broad.mit.edu	37	17	10355617	10355617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:10355617C>T	ENST00000255381.2	-	27	3489	c.3379G>A	c.(3379-3381)Gag>Aag	p.E1127K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1127					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CGCTCTGCCTCGATTTCCTCC	0.552000													30	27					0	0	0.00209593	0	0
TINAG	27283	broad.mit.edu	37	6	54186144	54186144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:54186144C>T	ENST00000259782.4	+	3	565	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Missense_Mutation_p.R153C|TINAG_ENST00000370864.3_Missense_Mutation_p.R139C	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	157					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			ATGCCTTGTTCGTTCAGAATT	0.378000													15	21					0	0	0.000958276	0	0
BPTF	2186	broad.mit.edu	37	17	65907642	65907642	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:65907642C>T	ENST00000321892.4	+	13	4081	c.4020C>T	c.(4018-4020)ttC>ttT	p.F1340F	BPTF_ENST00000335221.5_Silent_p.F1340F|BPTF_ENST00000424123.3_Silent_p.F1201F|BPTF_ENST00000306378.6_Silent_p.F1214F			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1340					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATGATTTTTTCATCGATGACT	0.373000													19	43					0	0	0.000958276	0	0
MAPK1	5594	broad.mit.edu	37	22	22153384	22153384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:22153384G>A	ENST00000215832.6	-	4	714	c.526C>T	c.(526-528)Cca>Tca	p.P176S	MAPK1_ENST00000398822.3_Missense_Mutation_p.P176S|MAPK1_ENST00000544786.1_Missense_Mutation_p.P176S	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	176	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	TCATGGTCTGGATCTGCAACA	0.413000													13	36					0	0	0.00185496	0	0
AFF3	3899	broad.mit.edu	37	2	100623240	100623240	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:100623240G>A	ENST00000317233.4	-	6	962	c.727C>T	c.(727-729)Cag>Tag	p.Q243*	AFF3_ENST00000356421.2_Nonsense_Mutation_p.Q268*|AFF3_ENST00000409579.1_Nonsense_Mutation_p.Q268*|AFF3_ENST00000409236.1_Nonsense_Mutation_p.Q243*	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	243					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCAGGGGCCTGATCTTGGCCG	0.577000													9	45					0	0	0.000442599	0	0
NUBPL	80224	broad.mit.edu	37	14	32142591	32142591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:32142591G>A	ENST00000281081.7	+	5	458	c.413G>A	c.(412-414)gGt>gAt	p.G138D	NUBPL_ENST00000536705.1_Missense_Mutation_p.G42D	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	138					mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		TTGAATTATGGTATTGCTTGG	0.274000													5	21					0	0	0.000602214	0	0
SELRC1	65260	broad.mit.edu	37	1	53153603	53153603	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:53153603G>A	ENST00000371538.3	-	3	524	c.485C>T	c.(484-486)cCa>cTa	p.P162L	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2	Q96BR5	SELR1_HUMAN	Sel1 repeat containing 1	162							binding			breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						GGGAAAGCCTGGGGCACCCTG	0.542000													54	41					0	0	0.000781405	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145474550	145474550	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:145474550G>A	ENST00000323397.4	+	4	2515	c.1222G>A	c.(1222-1224)Ggc>Agc	p.G408S		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	408	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCGGAGGGGCTCGGGGAC	0.682000													4	9					0	0	0.000602214	0	0
DENND1A	57706	broad.mit.edu	37	9	126214555	126214555	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:126214555G>A	ENST00000373624.2	-	17	1500	c.1299_splice	c.e17+1	p.F433_splice	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373618.1_Splice_Site_p.F401_splice|DENND1A_ENST00000542603.1_Splice_Site_p.F175_splice|DENND1A_ENST00000394219.3_Splice_Site_p.F401_splice|DENND1A_ENST00000394215.2_Splice_Site_p.F403_splice|DENND1A_ENST00000373620.3_Splice_Site_p.F433_splice	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	433						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CAGTACTTACGAACTTGTAGA	0.378000													21	87					0	0	0.00047179	0	0
MRPS9	64965	broad.mit.edu	37	2	105708940	105708940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:105708940C>T	ENST00000258455.3	+	8	843	c.733C>T	c.(733-735)Cga>Tga	p.R245*		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	245					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GCAGAGGTTTCGAAGAAGTGT	0.393000													12	63					0	0	0.00136819	0	0
SYNE1	23345	broad.mit.edu	37	6	152655162	152655162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:152655162C>T	ENST00000367255.5	-	77	13376	c.12775G>A	c.(12775-12777)Gaa>Aaa	p.E4259K	SYNE1_ENST00000448038.1_Missense_Mutation_p.E4188K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E4259K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E4124K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E4188K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4259					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	p.E4259K(2)|p.E4188K(1)		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)		TTATCCCATTCTGTAGTAAAT	0.373000										HNSCC(10;0.0054)			49	67					0	0	0.000781405	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877605	24877605	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:24877605C>T	ENST00000382554.3	+	3	1047	c.729C>T	c.(727-729)ccC>ccT	p.P243P		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	243					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GTCCTGGACCCTTTGTGGACA	0.587000													34	24					0	0	0.000953801	0	0
DLL4	54567	broad.mit.edu	37	15	41228588	41228588	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:41228588C>T	ENST00000249749.5	+	9	1679	c.1403C>T	c.(1402-1404)gCc>gTc	p.A468V		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	468	EGF-like 7.				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		ACCTGCCCTGCCGGCTTCTCT	0.622000													15	1					0	0	0.000566183	0	0
LAMC3	10319	broad.mit.edu	37	9	133920952	133920952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:133920952C>T	ENST00000361069.4	+	8	1557	c.1424C>T	c.(1423-1425)gCt>gTt	p.A475V	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	475	Laminin EGF-like 4.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CACAATCCAGCTGGCTGCAGC	0.607000													26	31					0	0	0.000878237	0	0
ZFP57	346171	broad.mit.edu	37	6	29640907	29640907	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:29640907G>A	ENST00000376883.1	-	6	1332	c.921C>T	c.(919-921)gcC>gcT	p.A307A	ZFP57_ENST00000376881.3_Silent_p.A307A|ZFP57_ENST00000488757.1_Silent_p.A327A			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	243					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CCTGGGACCTGGCCACTGGTG	0.557000													84	37					0	0	0.000781405	0	0
MIR527	574497	broad.mit.edu	37	19	54257317	54257317	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:54257317G>A	ENST00000385244.1	+	0	46					NR_030219.1																						TTGTCTAAAAGAAAAGAAAGT	0.428000													82	101					0	0	0.000781405	0	0
ABCC4	10257	broad.mit.edu	37	13	95673920	95673920	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:95673920T>C	ENST00000376887.4	-	31	4001	c.3887A>G	c.(3886-3888)aAt>aGt	p.N1296S	ABCC4_ENST00000412704.1_Missense_Mutation_p.N1249S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1296					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	ATGTGGATAATTTCTTTTGAA	0.368000													12	39					0	0	0.000308642	0	0
APOF	319	broad.mit.edu	37	12	56755102	56755102	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:56755102G>A	ENST00000398189.3	-	2	965	c.888C>T	c.(886-888)ttC>ttT	p.F296F	APOF_ENST00000541105.1_Silent_p.F278F	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	296					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						CTTCTGATATGAAAGAAGCCA	0.473000													16	51					0	0	0.00074312	0	0
DNAH17	8632	broad.mit.edu	37	17	76526586	76526586	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:76526586G>A	ENST00000389840.5	-	21	3247	c.3123C>T	c.(3121-3123)tcC>tcT	p.S1041S	DNAH17_ENST00000585328.1_Silent_p.S1038S					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTTCTCGTAGGAGTCGATCT	0.632000													21	111					0	0	0.00047179	0	0
BBC3	27113	broad.mit.edu	37	19	47725012	47725012	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:47725012G>A	ENST00000449228.1	-	4	895	c.732C>T	c.(730-732)ccC>ccT	p.P244P	BBC3_ENST00000300880.7_Silent_p.P84P|BBC3_ENST00000341983.4_3'UTR|BBC3_ENST00000439096.2_3'UTR	NM_001127240.2	NP_001120712.1	Q9BXH1	BBC3_HUMAN	BCL2 binding component 3	0					activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol	cytosol|mitochondrial outer membrane	protein binding			endometrium(1)|lung(2)|skin(1)	4		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)		GAGGTGGGAGGGGCCTGCCCC	0.706000													9	10					0	0	0.000673444	0	0
IL20	50604	broad.mit.edu	37	1	207039325	207039325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:207039325G>A	ENST00000367098.1	+	2	491	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	IL20_ENST00000367096.3_Missense_Mutation_p.R43Q|IL20_ENST00000391930.2_Missense_Mutation_p.R43Q			Q9NYY1	IL20_HUMAN	interleukin 20	43					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		CAGGAAATACGAAATGGATTT	0.473000													29	69					0	0	0.001512	0	0
MIR1283-2	100302205	broad.mit.edu	37	19	54261508	54261508	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:54261508G>A	ENST00000408621.1	+	0	23					NR_031696.1																						GTCTACAAAGGAAAGCGCTTT	0.408000													31	121					0	0	0.00058488	0	0
SMPD4	55627	broad.mit.edu	37	2	130912694	130912694	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:130912694G>A	ENST00000409031.1	-	15	2693	c.1545C>T	c.(1543-1545)ccC>ccT	p.P515P	SMPD4_ENST00000351288.6_Silent_p.P486P|SMPD4_ENST00000431183.2_Silent_p.P413P|SMPD4_ENST00000452225.2_Silent_p.P256P|SMPD4_ENST00000453750.1_Silent_p.P264P|SMPD4_ENST00000426662.2_Silent_p.P151P|SMPD4_ENST00000339679.7_Silent_p.P373P|SMPD4_ENST00000443958.2_Silent_p.P179P	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	476					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CAGCCAGGTTGGGCTGGGCAA	0.612000													8	52					0	0	0.000442599	0	0
ARAP2	116984	broad.mit.edu	37	4	36212334	36212334	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:36212334C>T	ENST00000303965.4	-	6	1654	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	389					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ACCTTGTCCTCGCTTATTTTC	0.338000													20	52					0	0	0.00121646	0	0
GOLGA3	2802	broad.mit.edu	37	12	133353292	133353292	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:133353292G>A	ENST00000204726.3	-	21	4464	c.3906C>T	c.(3904-3906)tcC>tcT	p.S1302S	GOLGA3_ENST00000456883.2_Silent_p.S1302S|GOLGA3_ENST00000450791.2_Silent_p.S1302S	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1302	Gln-rich.				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)		GCTGCTTCAAGGACTGGATTT	0.502000													24	67					0	0	0.00229938	0	0
NDST4	64579	broad.mit.edu	37	4	115767138	115767138	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:115767138G>A	ENST00000264363.2	-	10	2634	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	652	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATGGTGTAGGGAAAAAGTCCA	0.358000													27	16					0	0	0.00106085	0	0
XIRP1	165904	broad.mit.edu	37	3	39227007	39227007	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:39227007C>T	ENST00000340369.3	-	2	4158	c.3930G>A	c.(3928-3930)aaG>aaA	p.K1310K	XIRP1_ENST00000421646.1_5'UTR|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1310	Pro-rich.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTTTTGGGGTCTTTGTCTGTG	0.617000													28	83					0	0	0.00106085	0	0
TM4SF19	116211	broad.mit.edu	37	3	196054427	196054427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:196054427C>T	ENST00000446879.1	-	2	160	c.35G>A	c.(34-36)cGg>cAg	p.R12Q	TM4SF19_ENST00000273695.3_Missense_Mutation_p.R12Q|TM4SF19_ENST00000454715.1_Missense_Mutation_p.R12Q			Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	12						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GGAGCAAGTCCGTGAGCTTGC	0.607000													20	54					0	0	0.00152264	0	0
TAF1L	138474	broad.mit.edu	37	9	32631485	32631485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:32631485G>A	ENST00000242310.4	-	1	4182	c.4093C>T	c.(4093-4095)Cct>Tct	p.P1365S		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1365					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGCTGTTTAGGAAACTTGAGA	0.438000													88	64					0	0	0.000781405	0	0
PAXIP1	22976	broad.mit.edu	37	7	154738110	154738110	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:154738110C>T	ENST00000404141.1	-	20	3313	c.3159G>A	c.(3157-3159)ctG>ctA	p.L1053L	PAXIP1_ENST00000397192.1_Silent_p.L1053L|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	1053	BRCT 6.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GCACTCCAGTCAGAACGAACT	0.428000													32	159					0	0	0.00148497	0	0
DST	667	broad.mit.edu	37	6	56483105	56483105	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:56483105G>A	ENST00000370765.6	-	23	5834	c.5727C>T	c.(5725-5727)tcC>tcT	p.S1909S	DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1300					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAACAGAGGGGATCTGGGTG	0.502000													16	18					0	0	0.000308642	0	0
NUDT14	256281	broad.mit.edu	37	14	105639473	105639473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:105639473G>A	ENST00000392568.2	-	5	647	c.554C>T	c.(553-555)cCc>cTc	p.P185L	NUDT14_ENST00000550912.1_5'UTR|RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	185	Nudix hydrolase.					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GCCTTCCAGGGGCAGGTGCAC	0.627000										HNSCC(42;0.11)			6	39					0	0	0.00198382	0	0
SP140L	93349	broad.mit.edu	37	2	231222634	231222634	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:231222634C>T	ENST00000243810.6	+	3	222	c.222C>T	c.(220-222)ttC>ttT	p.F74F	SP140L_ENST00000396563.4_Silent_p.F74F|SP140L_ENST00000444636.1_Silent_p.F74F|SP140L_ENST00000458341.1_5'UTR|SP140L_ENST00000415673.2_Silent_p.F74F|SP140_ENST00000486687.2_3'UTR			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	74	HSR.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CATTTCCATTCCTTGAGGGCC	0.373000													56	227					0	0	0.000781405	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766203	27766203	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:27766203G>A	ENST00000451261.2	+	5	1590	c.1191G>A	c.(1189-1191)agG>agA	p.R397R		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ATGACCAGAGGAAAATTGATA	0.393000													34	0					0	0	0.000692331	0	0
CEACAM7	1087	broad.mit.edu	37	19	42187742	42187742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:42187742C>T	ENST00000006724.3	-	3	881	c.680G>A	c.(679-681)aGt>aAt	p.S227N	CEACAM7_ENST00000401731.1_Missense_Mutation_p.S227N|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	227	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GACTGGGTCACTGCGGCTGGC	0.542000													40	131					0	0	0.0025221	0	0
GJA8	2703	broad.mit.edu	37	1	147380328	147380328	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:147380328C>T	ENST00000240986.4	+	2	299	c.246C>T	c.(244-246)atC>atT	p.I82I	GJA8_ENST00000369235.1_Silent_p.I82I	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	82					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TGCTGCAGATCATCTTCGTCT	0.627000													16	81					0	0	0.000958276	0	0
TVP23A	780776	broad.mit.edu	37	16	10867934	10867934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:10867934C>T	ENST00000299866.8	-	4	577	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	TVP23A_ENST00000572980.1_5'UTR	NM_001079512.2	NP_001072980.1			trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)																		TTCCCATCTTCATCTATCTGG	0.498000													13	9					0	0	0.00244969	0	0
DPP10	57628	broad.mit.edu	37	2	116485423	116485423	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:116485423A>C	ENST00000410059.1	+	8	1088	c.608A>C	c.(607-609)cAa>cCa	p.Q203P	DPP10_ENST00000393147.2_Missense_Mutation_p.Q207P|DPP10_ENST00000409163.1_Missense_Mutation_p.Q153P|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.Q196P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	203					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATCTACTATCAACCTGATATA	0.308000													12	15					0	0	0.000978159	0	0
OTOGL	283310	broad.mit.edu	37	12	80750274	80750274	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:80750274T>C	ENST00000458043.2	+	47	5864	c.5858T>C	c.(5857-5859)cTt>cCt	p.L1953P	OTOGL_ENST00000546620.1_5'UTR|OTOGL_ENST00000547103.1_Missense_Mutation_p.L1941P	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CACAGTCCTCTTTCTTGCTGT	0.333000													20	53					0	0	0.00121646	0	0
CNTN6	27255	broad.mit.edu	37	3	1424755	1424755	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:1424755G>A	ENST00000446702.2	+	18	2923	c.2296G>A	c.(2296-2298)Gaa>Aaa	p.E766K	CNTN6_ENST00000350110.2_Missense_Mutation_p.E766K|CNTN6_ENST00000539053.1_Missense_Mutation_p.E694K			Q9UQ52	CNTN6_HUMAN	contactin 6	766	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CTACAGAAATGAAAGCATCAT	0.458000													9	40					0	0	0.000673444	0	0
CERS6	253782	broad.mit.edu	37	2	169313054	169313054	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:169313054C>T	ENST00000305747.6	+	1	683	c.96C>T	c.(94-96)ttC>ttT	p.F32F	CERS6_ENST00000392687.4_Silent_p.F32F	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	32						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										AGGCCACCTTCCCGCAGGCTG	0.582000													9	54					0	0	0.000673444	0	0
CNOT3	4849	broad.mit.edu	37	19	54649670	54649670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:54649670C>T	ENST00000406403.1	+	8	2331	c.728C>T	c.(727-729)cCt>cTt	p.P243L	CNOT3_ENST00000221232.5_Missense_Mutation_p.P243L|CNOT3_ENST00000358389.3_Missense_Mutation_p.P62L			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	243					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCACCTCCCCTCCCAGCCAC	0.637000													14	53					0	0	0.000566183	0	0
COL13A1	1305	broad.mit.edu	37	10	71690233	71690233	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:71690233G>A	ENST00000356340.3	+	28	2111	c.1575G>A	c.(1573-1575)gtG>gtA	p.V525V	COL13A1_ENST00000398968.3_Silent_p.V506V|COL13A1_ENST00000398978.3_Silent_p.V525V|COL13A1_ENST00000398974.3_Silent_p.V513V|COL13A1_ENST00000398966.3_Silent_p.V503V|COL13A1_ENST00000520133.1_Silent_p.V474V|COL13A1_ENST00000520267.1_Silent_p.V468V|COL13A1_ENST00000398972.3_Silent_p.V525V|COL13A1_ENST00000398973.3_Silent_p.V525V|COL13A1_ENST00000357811.3_Silent_p.V503V|COL13A1_ENST00000398969.3_Silent_p.V468V|COL13A1_ENST00000354547.3_Silent_p.V503V|COL13A1_ENST00000398964.3_Silent_p.V496V|COL13A1_ENST00000522165.1_Silent_p.V506V|COL13A1_ENST00000398971.3_Silent_p.V525V|COL13A1_ENST00000517713.1_Silent_p.V503V			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	525	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	CTCCAGGAGTGAAGGGAGAAA	0.602000													13	6					0	0	0.00136819	0	0
NEK5	341676	broad.mit.edu	37	13	52676396	52676396	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:52676396C>T	ENST00000355568.4	-	10	781	c.642G>A	c.(640-642)ctG>ctA	p.L214L		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	214	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GACAAATCTTCAGAACCAGCT	0.403000													47	69					0	0	0.000781405	0	0
OR8B8	26493	broad.mit.edu	37	11	124310965	124310965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:124310965G>A	ENST00000328064.2	-	1	89	c.17C>T	c.(16-18)tCc>tTc	p.S6F		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CACGAAGGAGGAATTCTCAGC	0.502000													15	12					0	0	0.000308642	0	0
FLAD1	80308	broad.mit.edu	37	1	154960577	154960577	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:154960577C>T	ENST00000368431.3	+	3	892	c.72C>T	c.(70-72)ccC>ccT	p.P24P	FLAD1_ENST00000315144.10_Intron|FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000487371.1_Intron|FLAD1_ENST00000405236.2_Silent_p.P24P|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000368433.1_Intron|FLAD1_ENST00000292180.3_Intron	NM_001184892.1	NP_001171821.1	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	0					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCTTCAACCCCCAGGGACACA	0.552000													111	78					0	0	0.000781405	0	0
DCLK2	166614	broad.mit.edu	37	4	151119159	151119159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:151119159C>T	ENST00000296550.7	+	4	1619	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C	DCLK2_ENST00000506325.1_Missense_Mutation_p.R289C|DCLK2_ENST00000302176.8_Missense_Mutation_p.R289C|DCLK2_ENST00000507694.1_3'UTR	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	289					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCTAGAATGTCGTGTCCTGAA	0.408000													13	39					0	0	0.00185496	0	0
MAGI1	9223	broad.mit.edu	37	3	65350400	65350400	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:65350400C>T	ENST00000330909.8	-	21	3374	c.3374_splice	c.e21-1	p.R1125_splice	MAGI1_ENST00000483466.1_Splice_Site_p.R1126_splice|MAGI1_ENST00000402939.2_Splice_Site_p.R1097_splice|MAGI1_ENST00000497477.2_Splice_Site_p.R1030_splice	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1126	PDZ 6.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGGTGGTATTCCTGCCAAAGT	0.393000													29	47					0	0	0.00058488	0	0
CDK12	51755	broad.mit.edu	37	17	37681082	37681082	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:37681082C>A	ENST00000447079.4	+	12	3284	c.3251C>A	c.(3250-3252)cCa>cAa	p.P1084Q	CDK12_ENST00000430627.2_Missense_Mutation_p.P1084Q	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1084					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AACAGCAGCCCAGCACCACCT	0.527000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			6	121					0.00116845	0.00427116	0.00116845	1	0
GRIK5	2901	broad.mit.edu	37	19	42507715	42507715	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:42507715C>T	ENST00000262895.3	-	17	2383	c.2384G>A	c.(2383-2385)cGa>cAa	p.R795Q	GRIK5_ENST00000593562.1_Missense_Mutation_p.R795Q|GRIK5_ENST00000301218.4_Missense_Mutation_p.R795Q	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	795						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	ACCTTTAGCTCGATGGTCCTC	0.632000													12	42					0	0	0.00244969	0	0
THEMIS	387357	broad.mit.edu	37	6	128134744	128134744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:128134744C>T	ENST00000368250.1	-	5	1303	c.805G>A	c.(805-807)Gag>Aag	p.E269K	THEMIS_ENST00000537166.1_Missense_Mutation_p.E313K|THEMIS_ENST00000368248.2_Missense_Mutation_p.E348K|THEMIS_ENST00000543064.1_Missense_Mutation_p.E348K			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	348	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GTTGGGAACTCCCTCGGTCGC	0.478000													17	22					0	0	0.00074312	0	0
IL31RA	133396	broad.mit.edu	37	5	55195914	55195914	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:55195914G>A	ENST00000396834.1	+	10	1462	c.966G>A	c.(964-966)ggG>ggA	p.G322G	IL31RA_ENST00000396836.2_Silent_p.G341G|IL31RA_ENST00000297015.3_Silent_p.G199G|IL31RA_ENST00000447346.2_Silent_p.G341G|IL31RA_ENST00000490985.1_Silent_p.G199G|IL31RA_ENST00000354961.4_Silent_p.G322G|IL31RA_ENST00000359040.5_Silent_p.G341G	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	309	Fibronectin type-III 4.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ATTCTCTTGGGAAGTCTCCAG	0.453000													50	118					0	0	0.000781405	0	0
SCAND3	114821	broad.mit.edu	37	6	28542620	28542620	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:28542620C>T	ENST00000452236.2	-	3	2479	c.1862G>A	c.(1861-1863)gGa>gAa	p.G621E		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	621					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATGGATATTTCCATCACATGA	0.423000													13	20					0	0	0.00244969	0	0
PTPN23	25930	broad.mit.edu	37	3	47453658	47453658	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:47453658C>G	ENST00000265562.4	+	22	4225	c.4148C>G	c.(4147-4149)cCg>cGg	p.P1383R	PTPN23_ENST00000431726.1_Missense_Mutation_p.P1257R	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1383	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CATCAGCGGCCGCTGCACACG	0.627000													20	59					0	0	0.00152264	0	0
PLCB2	5330	broad.mit.edu	37	15	40589053	40589053	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:40589053G>A	ENST00000260402.3	-	14	1629	c.1380C>T	c.(1378-1380)atC>atT	p.I460I	PLCB2_ENST00000557821.1_Silent_p.I460I|PLCB2_ENST00000456256.2_Silent_p.I460I	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	460	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TCTTGTTCTTGATGAGGATCT	0.582000													30	23					0	0	0.0024448	0	0
C15orf39	56905	broad.mit.edu	37	15	75498755	75498755	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:75498755C>T	ENST00000360639.2	+	2	686	c.366C>T	c.(364-366)taC>taT	p.Y122Y	C15orf39_ENST00000394987.4_Silent_p.Y122Y|C15orf39_ENST00000567617.1_Silent_p.Y122Y			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	122										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTCACTCCTACCCAGGCCCAC	0.612000													5	10					0	0	0.000157383	0	0
MROH2B	133558	broad.mit.edu	37	5	41055862	41055862	+	Silent	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:41055862A>G	ENST00000399564.4	-	10	1465	c.1015T>C	c.(1015-1017)Ttg>Ctg	p.L339L	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TTGACAGCCAATCTTAACAAA	0.418000													20	58					0	0	0.00278032	0	0
PAK7	57144	broad.mit.edu	37	20	9561263	9561263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:9561263C>T	ENST00000378429.3	-	5	1065	c.519G>A	c.(517-519)atG>atA	p.M173I	PAK7_ENST00000378423.1_Missense_Mutation_p.M173I|PAK7_ENST00000353224.5_Missense_Mutation_p.M173I	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	173	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GCTTCATTTTCATTACGTGCC	0.463000													43	83					0	0	0.000680045	0	0
DNAH5	1767	broad.mit.edu	37	5	13759068	13759068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:13759068G>A	ENST00000265104.4	-	61	10410	c.10306C>T	c.(10306-10308)Cgc>Tgc	p.R3436C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3436	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGGAGATGGCGATTCTCTTGC	0.547000									Kartagener syndrome				36	92					0	0	0.00170553	0	0
MLLT4	4301	broad.mit.edu	37	6	168352394	168352394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:168352394C>T	ENST00000366806.2	+	30	4481	c.4339C>T	c.(4339-4341)Cag>Tag	p.Q1447*	MLLT4_ENST00000351017.4_Nonsense_Mutation_p.Q1454*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.Q1447*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.Q1446*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.Q1430*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.Q1447*|MLLT4_ENST00000447894.2_Nonsense_Mutation_p.Q1447*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1447					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GATGCGCACTCAGTCCTTAAA	0.577000			T	MLL	AL								37	40					0	0	0.00222228	0	0
AGO3	192669	broad.mit.edu	37	1	36521258	36521258	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:36521258C>T	ENST00000373191.4	+	19	2844	c.2495C>T	c.(2494-2496)tCa>tTa	p.S832L	AGO3_ENST00000246314.6_Missense_Mutation_p.S598L	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		AGTCACGTTTCAGGACAAAGC	0.393000													95	68					0	0	0.000781405	0	0
CYP2C9	1559	broad.mit.edu	37	10	96707649	96707649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:96707649G>A	ENST00000260682.6	+	4	607	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	199					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TAACTTAATGGAAAAGTTGAA	0.383000													11	11					0	0	0.000673444	0	0
SOX4	6659	broad.mit.edu	37	6	21596018	21596018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:21596018C>T	ENST00000244745.1	+	1	2047	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	SOX4_ENST00000543472.1_Missense_Mutation_p.S418F	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	418					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GAGAGCATGTCCCTGGGCAGC	0.617000													13	40					0	0	0.000958276	0	0
POM121L12	285877	broad.mit.edu	37	7	53103888	53103888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:53103888G>A	ENST00000408890.4	+	1	540	c.524G>A	c.(523-525)cGg>cAg	p.R175Q		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	175										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCTGCACCCGGGAGACTCTG	0.721000													9	39					0	0	0.000274275	0	0
ADAT1	23536	broad.mit.edu	37	16	75646739	75646739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:75646739G>A	ENST00000307921.3	-	7	590	c.445C>T	c.(445-447)Ccg>Tcg	p.P149S		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	149	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						TCAAGCATCGGAATGATGGAG	0.488000													21	35					0	0	0.00121646	0	0
LAMA5	3911	broad.mit.edu	37	20	60892524	60892524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:60892524C>T	ENST00000252999.3	-	55	7454	c.7388G>A	c.(7387-7389)gGg>gAg	p.G2463E		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2463	Domain II and I.				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)	GGTCCGAGCCCCATCCAGGCT	0.682000													6	30					0	0	0.000157383	0	0
SETBP1	26040	broad.mit.edu	37	18	42532125	42532125	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:42532125G>A	ENST00000282030.5	+	4	3116	c.2820G>A	c.(2818-2820)agG>agA	p.R940R		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	940						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGCACAAGAGGAAACGGAAAA	0.527000									Schinzel-Giedion syndrome				22	62					0	0	0.00229938	0	0
MYH7	4625	broad.mit.edu	37	14	23887546	23887546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:23887546C>T	ENST00000355349.3	-	30	4204	c.4042G>A	c.(4042-4044)Gag>Aag	p.E1348K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1348					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTCTCCTCCTCGTACTGCTCC	0.667000													17	38					0	0	0.000422831	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20126823	20126823	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:20126823G>A	ENST00000334554.7	+	2	352	c.211G>A	c.(211-213)Ggt>Agt	p.G71S	ZDHHC8_ENST00000320602.7_Missense_Mutation_p.G71S|ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.G71S	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	71						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	p.G71C(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CATGGACCCTGGTGTTTTCCC	0.557000													49	149					0	0	0.000781405	0	0
CSMD2	114784	broad.mit.edu	37	1	34090665	34090665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:34090665G>A	ENST00000373381.4	-	34	5662	c.5486C>T	c.(5485-5487)gCg>gTg	p.A1829V	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.A702V	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1789	CUB 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACACGTGGGCGCTGAGACATT	0.642000													41	55					0	0	0.000680045	0	0
MDC1	9656	broad.mit.edu	37	6	30673675	30673675	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:30673675G>A	ENST00000376406.3	-	10	3932	c.3285C>T	c.(3283-3285)tcC>tcT	p.S1095S	MDC1_ENST00000376405.2_Silent_p.S831S|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1095	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CCAGCTCTGAGGACAAGGGAG	0.552000								Other conserved DNA damage response genes					73	157					0	0	0.000781405	0	0
RIN3	79890	broad.mit.edu	37	14	93154369	93154369	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:93154369G>A	ENST00000216487.7	+	10	2889	c.2730G>A	c.(2728-2730)gcG>gcA	p.A910A	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	910	Ras-associating.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CGCAGTGCGCGGAGAAGTTCG	0.721000													5	10					0	0	0.000602214	0	0
LRP2	4036	broad.mit.edu	37	2	170050321	170050321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:170050321C>T	ENST00000263816.3	-	47	9065	c.8780G>A	c.(8779-8781)gGt>gAt	p.G2927D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2927	LDL-receptor class A 21.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTCATTATCACCGTCACAGAT	0.473000													25	107					0	0	0.00278032	0	0
USH1C	10083	broad.mit.edu	37	11	17531327	17531327	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:17531327C>T	ENST00000005226.7	-	18	1588	c.1589G>A	c.(1588-1590)aGa>aAa	p.R530K	USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0	PDZ 3.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TGCGAAGCGTCTCAAGGGTGG	0.602000													19	33					0	0	0.00278032	0	0
ZNF385D	79750	broad.mit.edu	37	3	21552420	21552420	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:21552420C>T	ENST00000281523.2	-	4	890	c.372G>A	c.(370-372)aaG>aaA	p.K124K	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	124						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TTGCGCTGTCCTTGGCAGTTA	0.463000													25	77					0	0	0.00127121	0	0
KIAA0101	9768	broad.mit.edu	37	15	64669029	64669029	+	Missense_Mutation	SNP	A	A	T	rs11554309		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:64669029A>T	ENST00000300035.4	-	3	341	c.203T>A	c.(202-204)tTc>tAc	p.F68Y	KIAA0101_ENST00000559519.1_Missense_Mutation_p.F41Y|KIAA0101_ENST00000560234.1_Missense_Mutation_p.S69T|KIAA0101_ENST00000558008.1_Missense_Mutation_p.F68Y|KIAA0101_ENST00000380258.2_Intron	NM_014736.4	NP_055551.1	Q15004	PAF_HUMAN	KIAA0101	68						mitochondrion|nucleus				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						CAACCTAAAGAATTCTCCAAT	0.403000													7	32					0	0	0.000274275	0	0
WDR19	57728	broad.mit.edu	37	4	39247026	39247026	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:39247026C>T	ENST00000399820.3	+	24	2837	c.2683C>T	c.(2683-2685)Cct>Tct	p.P895S	WDR19_ENST00000288634.7_Missense_Mutation_p.P735S	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	895					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CGTTTCTTCTCCTAAGATCCA	0.408000													8	23					0	0	0.000673444	0	0
CALCRL	10203	broad.mit.edu	37	2	188245419	188245419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:188245419C>T	ENST00000409998.1	-	7	1061	c.280G>A	c.(280-282)Gac>Aac	p.D94N	AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.D94N|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.D94N			Q16602	CALRL_HUMAN	calcitonin receptor-like	94						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GGATCAAAGTCCTGAAAGTAA	0.398000													21	32					0	0	0.00047179	0	0
NCOA5	57727	broad.mit.edu	37	20	44691023	44691023	+	Silent	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:44691023A>C	ENST00000290231.6	-	8	1820	c.1656T>G	c.(1654-1656)ccT>ccG	p.P552P		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	552	Transcription activation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GGGAGAGAGCAGGGCCACTCT	0.527000													12	34					0	0	0.00185496	0	0
VAMP7	6845	broad.mit.edu	37	X	155171569	155171569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:155171569C>T	ENST00000286448.6	+	8	782	c.617C>T	c.(616-618)tCa>tTa	p.S206L	VAMP7_ENST00000460621.1_Missense_Mutation_p.S165L|VAMP7_ENST00000262640.6_Silent_p.F183F|VAMP7_ENST00000479687.1_3'UTR	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	206					calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	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)					ATCATTGTTTCACCTCTCTGT	0.353000													32	34					0	0	0.00148497	0	0
PADI4	23569	broad.mit.edu	37	1	17685896	17685896	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:17685896C>T	ENST00000375448.4	+	15	1777	c.1751C>T	c.(1750-1752)cCc>cTc	p.P584L		NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	584					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GCTTTTTTCCCCAACATGGTG	0.607000													23	91					0	0	0.00229938	0	0
TTC12	54970	broad.mit.edu	37	11	113210067	113210067	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:113210067G>C	ENST00000393020.1	+	10	1102	c.697G>C	c.(697-699)Gaa>Caa	p.E233Q	TTC12_ENST00000314756.3_Missense_Mutation_p.E233Q|TTC12_ENST00000529221.1_Missense_Mutation_p.E233Q|TTC12_ENST00000483239.2_Missense_Mutation_p.E239Q			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	233							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GGAAGCCCACGAACTGCTGGA	0.463000													22	37					0	0	0.00278032	0	0
NANOGP1	404635	broad.mit.edu	37	12	8048092	8048092	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:8048092C>T	ENST00000607111.1	+	0	20																				kidney(1)|lung(4)|prostate(1)	6						TTCCTTCCTCCATGGATCTGC	0.383000													21	67					0	0	0.00047179	0	0
RRP15	51018	broad.mit.edu	37	1	218480849	218480849	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:218480849T>G	ENST00000366932.3	+	4	610	c.580T>G	c.(580-582)Tct>Gct	p.S194A		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	194						mitochondrion|nucleolus	protein binding		ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		AGCTGGAAGTTCTATGAGAAA	0.368000													6	43					0	0	0.00116845	0	0
FAT3	120114	broad.mit.edu	37	11	92086899	92086899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:92086899G>A	ENST00000298047.6	+	1	1638	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	FAT3_ENST00000409404.2_Missense_Mutation_p.E541K|FAT3_ENST00000541502.1_Missense_Mutation_p.E541K|FAT3_ENST00000525166.1_Missense_Mutation_p.E391K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	541	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCCTCCCCAGAAATTTACAG	0.398000										TCGA Ovarian(4;0.039)			114	118					0	0	0.000781405	0	0
SMOX	54498	broad.mit.edu	37	20	4167936	4167936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:4167936C>T	ENST00000305958.4	+	7	1775	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	SMOX_ENST00000278795.3_Missense_Mutation_p.S494F|SMOX_ENST00000339123.6_Missense_Mutation_p.S464F|SMOX_ENST00000379460.2_Missense_Mutation_p.S517F|SMOX_ENST00000346595.2_Missense_Mutation_p.S152F	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	517					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GTGCTGTTTTCCGGTGAGGCC	0.647000													8	22					0	0	0.000978159	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891712	18891712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:18891712G>A	ENST00000317658.3	+	1	668	c.510G>A	c.(508-510)tgG>tgA	p.W170*		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	170					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ACGGACTTTGGAAATCTAAAT	0.388000													24	12					0	0	0.00047179	0	0
FAT3	120114	broad.mit.edu	37	11	92533807	92533807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:92533807G>A	ENST00000298047.6	+	9	7645	c.7628G>A	c.(7627-7629)cGa>cAa	p.R2543Q	FAT3_ENST00000409404.2_Missense_Mutation_p.R2543Q|FAT3_ENST00000525166.1_Missense_Mutation_p.R2393Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2543	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCCAAGGATCGATTCCTCATA	0.483000										TCGA Ovarian(4;0.039)			123	168					0	0	0.000781405	0	0
GPX6	257202	broad.mit.edu	37	6	28483479	28483479	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:28483479G>A	ENST00000361902.1	-	1	91	c.42C>T	c.(40-42)ttC>ttT	p.F14F	GPX6_ENST00000483058.1_Intron|GPX6_ENST00000474923.1_Silent_p.F14F	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	14					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	AGCCAACCAGGAAAAACAGGA	0.547000													11	27					0	0	0.00185496	0	0
SLC9B1	150159	broad.mit.edu	37	4	103870499	103870499	+	Silent	SNP	G	G	A	rs78972166		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:103870499G>A	ENST00000296422.7	-	4	438	c.297C>T	c.(295-297)ttC>ttT	p.F99F	SLC9B1_ENST00000394789.3_Silent_p.F99F	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	99						integral to membrane	solute:hydrogen antiporter activity										AAAAAATAATGAACAACCCAA	0.348000													22	52					0	0	0.00047179	0	0
PASK	23178	broad.mit.edu	37	2	242051780	242051780	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:242051780G>A	ENST00000405260.1	-	15	4106	c.3408C>T	c.(3406-3408)atC>atT	p.I1136I	PASK_ENST00000544142.1_Silent_p.I950I|PASK_ENST00000475666.1_5'UTR|PASK_ENST00000539818.1_Silent_p.I920I|PASK_ENST00000358649.4_Silent_p.I1143I|PASK_ENST00000234040.4_Silent_p.I1136I	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1136	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGTCCTCGGCGATCACGATGT	0.502000													24	32					0	0	0.00106085	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198498223	198498223	+	Silent	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:198498223T>C	ENST00000367381.1	-	4	294	c.189A>G	c.(187-189)ctA>ctG	p.L63L	ATP6V1G3_ENST00000489986.1_Silent_p.L63L|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000367382.1_Silent_p.L57L|ATP6V1G3_ENST00000281087.2_Silent_p.L57L			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	57					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						TAGATTGTTTTAGTCGAAACT	0.338000													7	38					0	0	0.00198382	0	0
SIRPD	128646	broad.mit.edu	37	20	1517841	1517841	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:1517841G>A	ENST00000381623.3	-	3	1726	c.537C>T	c.(535-537)ttC>ttT	p.F179F	SIRPD_ENST00000381621.1_Silent_p.F180F			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	179						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						AGGGTTGGACGAAATAGTTTG	0.617000													20	58					0	0	0.000958276	0	0
OR4M2	390538	broad.mit.edu	37	15	22369419	22369419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:22369419C>T	ENST00000332663.2	+	1	942	c.844C>T	c.(844-846)Cct>Tct	p.P282S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTTAATATTCCCTTTACGTAA	0.378000													5	23					0	0	0.00116845	0	0
MYH4	4622	broad.mit.edu	37	17	10364279	10364279	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:10364279G>A	ENST00000255381.2	-	12	1211	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	367	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTTTTGCTTGAATTTCATGT	0.478000													23	37					0	0	0.000586117	0	0
GSN	2934	broad.mit.edu	37	9	124074660	124074660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:124074660G>A	ENST00000373823.3	+	13	1462	c.557G>A	c.(556-558)aGa>aAa	p.R186K	GSN_ENST00000373818.4_Missense_Mutation_p.R237K|GSN_ENST00000436847.1_Missense_Mutation_p.R197K|GSN_ENST00000412819.1_Missense_Mutation_p.R186K|GSN_ENST00000341272.2_Missense_Mutation_p.R186K|GSN_ENST00000373807.1_5'UTR|GSN_ENST00000449733.1_Missense_Mutation_p.R186K|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000545652.1_Missense_Mutation_p.R194K|GSN_ENST00000373808.2_Missense_Mutation_p.R186K|GSN_ENST00000394353.2_Missense_Mutation_p.R197K			P06396	GELS_HUMAN	gelsolin	237					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	p.R237T(1)|p.R186T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CGGTATGAAAGACTGAAGGCC	0.617000													31	103					0	0	0.00058488	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656217	40656217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:40656217C>T	ENST00000406785.1	-	2	1393	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	SLC8A1_ENST00000403092.1_Missense_Mutation_p.E402K|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E402K|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E402K|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E402K|SLC8A1_ENST00000542756.1_Missense_Mutation_p.E402K|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E402K|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E402K|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E402K|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E402K			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	402	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGGTCATTTTCAGTCACTTCA	0.483000													13	27					0	0	0.000308642	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628299	173628299	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:173628299C>T	ENST00000333279.2	-	2	319	c.259G>A	c.(259-261)Gct>Act	p.A87T		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	103										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						CTTTGCCCAGCCATGCAAGCT	0.403000													32	134					0	0	0.0024448	0	0
NR2E3	10002	broad.mit.edu	37	15	72109979	72109979	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:72109979G>A	ENST00000563709.1	+	0	179																											AAGACCATAGGGAATACTCCA	0.468000													33	10					0	0	0.00209593	0	0
NF1	4763	broad.mit.edu	37	17	29654712	29654712	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:29654712C>T	ENST00000358273.4	+	38	5847	c.5464C>T	c.(5464-5466)Cag>Tag	p.Q1822*	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1801*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1822					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGCCATTGTCCAGTCTATCAT	0.522000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			48	57					0	0	0.000781405	0	0
NUP160	23279	broad.mit.edu	37	11	47862106	47862106	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:47862106C>T	ENST00000378460.2	-	3	395	c.349G>A	c.(349-351)Gag>Aag	p.E117K	NUP160_ENST00000530326.1_Missense_Mutation_p.E3K|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000526870.1_Missense_Mutation_p.E117K|NUP160_ENST00000528071.1_Missense_Mutation_p.E3K	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	117					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TCCAGTGACTCCTCCATCAGC	0.388000													29	29					0	0	0.00178596	0	0
FRMPD1	22844	broad.mit.edu	37	9	37729769	37729769	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:37729769C>T	ENST00000539465.1	+	8	1250	c.657C>T	c.(655-657)atC>atT	p.I219I	FRMPD1_ENST00000541302.1_Silent_p.I88I|FRMPD1_ENST00000377765.3_Silent_p.I219I|FRMPD1_ENST00000536622.1_Silent_p.I41I|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	219	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TCCGAAGTATCGAGTACTTTG	0.567000													26	74					0	0	0.000720815	0	0
RIPK3	11035	broad.mit.edu	37	14	24806336	24806336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:24806336G>A	ENST00000216274.5	-	8	1449	c.1231C>T	c.(1231-1233)Cct>Tct	p.P411S	RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.P85S	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	411					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		GTTGAGGTAGGGCTGGGCATC	0.537000													13	44					0	0	0.00244969	0	0
PSG7	5676	broad.mit.edu	37	19	43439693	43439693	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:43439693C>T	ENST00000406070.2	-	0	389				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TACTGTTTCTCATCCACTGTA	0.418000													146	188					0	0	0.000781405	0	0
WDR66	144406	broad.mit.edu	37	12	122359542	122359542	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:122359542G>A	ENST00000288912.4	+	2	1185	c.331G>A	c.(331-333)Gag>Aag	p.E111K	WDR66_ENST00000397454.2_Missense_Mutation_p.E111K	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	111							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GATCCGTTTGGAGACACAGAT	0.418000													20	47					0	0	0.00188189	0	0
STRBP	55342	broad.mit.edu	37	9	125901857	125901857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:125901857G>A	ENST00000447404.2	-	13	1752	c.1448C>T	c.(1447-1449)tCa>tTa	p.S483L	STRBP_ENST00000348403.5_Missense_Mutation_p.S483L|STRBP_ENST00000360998.3_Missense_Mutation_p.S469L			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	483					multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						ATTATTGCTTGAGTTTGAAGA	0.323000													27	32					0	0	0.000878237	0	0
KIAA1109	84162	broad.mit.edu	37	4	123207806	123207806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:123207806C>T	ENST00000264501.4	+	53	9521	c.9148C>T	c.(9148-9150)Ccc>Tcc	p.P3050S	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P3050S|KIAA1109_ENST00000455637.1_Missense_Mutation_p.P3050S			Q2LD37	K1109_HUMAN	KIAA1109	3050					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCTTAACCTTCCCCCTGTTAC	0.393000													27	81					0	0	0.00127121	0	0
LILRA5	353514	broad.mit.edu	37	19	54823363	54823363	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:54823363C>T	ENST00000301219.3	-	4	299	c.180G>A	c.(178-180)ggG>ggA	p.G60G	AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Silent_p.G48G|LILRA5_ENST00000346508.3_Silent_p.G48G|LILRA5_ENST00000432233.3_Silent_p.G60G	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	60	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACAGAGTTCCCCCGGCTGA	0.612000													19	54					0	0	0.00121646	0	0
FABP1	2168	broad.mit.edu	37	2	88425751	88425751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:88425751C>T	ENST00000393750.3	-	2	215	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Missense_Mutation_p.E62K			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	62					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						ACCGTGAATTCGTTTTGGATC	0.517000													111	151					0	0	0.000781405	0	0
KCNJ6	3763	broad.mit.edu	37	21	38997754	38997754	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:38997754T>G	ENST00000400482.3	-	4	1568	c.979A>C	c.(979-981)Acc>Ccc	p.T327P	KCNJ6_ENST00000288309.6_Missense_Mutation_p.T327P	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	327					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ATCTCACTGGTGATGTAGGAG	0.517000													10	42					0	0	0.000673444	0	0
NINJ2	4815	broad.mit.edu	37	12	675180	675180	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:675180C>T	ENST00000305108.4	-	2	616	c.336G>A	c.(334-336)ctG>ctA	p.L112L	NINJ2_ENST00000397265.3_Silent_p.L59L|NINJ2_ENST00000433832.2_Silent_p.L30L|NINJ2_ENST00000537416.1_Intron|NINJ2_ENST00000542920.1_Silent_p.L30L	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	66					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			TGAGGGTGACCAGGGTGGTGT	0.617000													14	51					0	0	0.000308642	0	0
BCOR	54880	broad.mit.edu	37	X	39933481	39933481	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:39933481G>A	ENST00000342274.4	-	4	1480	c.1118C>T	c.(1117-1119)tCa>tTa	p.S373L	BCOR_ENST00000378455.4_Missense_Mutation_p.S373L|BCOR_ENST00000378444.4_Missense_Mutation_p.S373L|BCOR_ENST00000397354.3_Missense_Mutation_p.S373L	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	373					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GTATGGCTTTGACAGGGCAAC	0.602000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						34	2					0	0	0.00058488	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325121	150325121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:150325121C>T	ENST00000328902.5	-	3	781	c.565G>A	c.(565-567)Gat>Aat	p.D189N	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	189							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGTCACATCCAGCCAGGCA	0.607000													38	210					0	0	0.00111076	0	0
ADHFE1	137872	broad.mit.edu	37	8	67364250	67364250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:67364250C>T	ENST00000396623.3	+	9	828	c.797C>T	c.(796-798)cCc>cTc	p.P266L	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.P218L|ADHFE1_ENST00000379385.4_Missense_Mutation_p.P266L	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	266					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CCTTCAAATCCCATCACACGG	0.537000													16	42					0	0	0.000422831	0	0
ZNF28	7576	broad.mit.edu	37	19	53303922	53303922	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:53303922G>A	ENST00000438150.2	-	2	1910	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	ZNF28_ENST00000414252.2_Silent_p.F339F|ZNF28_ENST00000360272.4_Silent_p.F339F|ZNF28_ENST00000457749.2_Silent_p.F392F			P17035	ZNF28_HUMAN	zinc finger protein 28	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATTTGCGACTGAAAACTTTTT	0.383000													52	75					0	0	0.000781405	0	0
LUC7L	55692	broad.mit.edu	37	16	256035	256035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:256035C>T	ENST00000337351.4	-	5	601	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	LUC7L_ENST00000397780.1_Missense_Mutation_p.E107K|LUC7L_ENST00000397783.1_Missense_Mutation_p.E160K|LUC7L_ENST00000293872.8_Missense_Mutation_p.E160K	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	160							metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CGAACTTTTTCCACTTCCATA	0.413000													34	106					0	0	0.00058488	0	0
SULT1C3	442038	broad.mit.edu	37	2	108872050	108872050	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:108872050C>T	ENST00000329106.2	+	4	422	c.422C>T	c.(421-423)cCc>cTc	p.P141L	SULT1C3_ENST00000376700.1_Missense_Mutation_p.P141L	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	141						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						GCCAGAAATCCCAAGGATTGC	0.423000													12	46					0	0	0.000422831	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80266638	80266638	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:80266638G>A	ENST00000450142.2	-	2	584	c.318C>T	c.(316-318)ggC>ggT	p.G106G	PPP1R12A_ENST00000550107.1_Silent_p.G106G|PPP1R12A_ENST00000261207.5_Silent_p.G106G|PPP1R12A_ENST00000437004.2_Silent_p.G106G|PPP1R12A_ENST00000546369.1_Silent_p.G19G	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	106						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GTGGTATCCAGCCTTCATTAT	0.368000													16	50					0	0	0.000422831	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768610	31768610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:31768610C>T	ENST00000355459.2	+	1	219	c.206C>T	c.(205-207)tCc>tTc	p.S69F		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	69	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCCAGACATCCTATGTGGAG	0.597000													41	19					0	0	0.00222228	0	0
KLHL26	55295	broad.mit.edu	37	19	18775173	18775173	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:18775173C>T	ENST00000300976.4	+	2	276	c.186C>T	c.(184-186)ctC>ctT	p.L62L	KLHL26_ENST00000599006.1_Silent_p.L62L|KLHL26_ENST00000596843.1_3'UTR|KLHL26_ENST00000595182.1_Silent_p.L62L	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	62										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGGGCCAGCTCCTCGATGTTG	0.637000													54	139					0	0	0.000781405	0	0
ITGA5	3678	broad.mit.edu	37	12	54799118	54799118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:54799118G>A	ENST00000293379.4	-	12	1318	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	353					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCAGGGGTCCGATCCATGAGC	0.657000													6	17					0	0	0.00198382	0	0
CACNA1F	778	broad.mit.edu	37	X	49061646	49061646	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:49061646A>T	ENST00000376265.2	-	48	5946	c.5885T>A	c.(5884-5886)tTc>tAc	p.F1962Y	CACNA1F_ENST00000323022.5_Missense_Mutation_p.F1951Y|CACNA1F_ENST00000376251.1_Missense_Mutation_p.F1897Y	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1962					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CTCCTCATCGAAGCGGGAGAG	0.602000													14	0					0	0	0.000566183	0	0
PTDSS1	9791	broad.mit.edu	37	8	97299284	97299284	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:97299284C>T	ENST00000517309.1	+	4	677	c.351C>T	c.(349-351)ttC>ttT	p.F117F	PTDSS1_ENST00000455950.2_Intron|PTDSS1_ENST00000518776.1_3'UTR	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	117					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TCCTGGTATTCCTACTCTTCC	0.408000													103	68					0	0	0.000781405	0	0
KIAA2018	205717	broad.mit.edu	37	3	113378866	113378866	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:113378866G>A	ENST00000316407.4	-	7	2073	c.1663C>T	c.(1663-1665)Ctt>Ttt	p.L555F	KIAA2018_ENST00000478658.1_Missense_Mutation_p.L555F|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	555					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGTGGCTGAAGAATTATAACA	0.433000													25	52					0	0	0.00106085	0	0
BRWD1	54014	broad.mit.edu	37	21	40571405	40571405	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:40571405A>G	ENST00000342449.3	-	40	5015	c.4937T>C	c.(4936-4938)gTa>gCa	p.V1646A	BRWD1_ENST00000380800.3_Missense_Mutation_p.V1646A|BRWD1_ENST00000333229.2_Missense_Mutation_p.V1646A	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATTCTCTTCTACATCACTCAT	0.408000											OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	20	71					0	0	0.00121646	0	0
CHMP4C	92421	broad.mit.edu	37	8	82670747	82670747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:82670747G>A	ENST00000297265.4	+	5	863	c.670G>A	c.(670-672)Gat>Aat	p.D224N		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	224	Intramolecular interaction with N- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						AGAGGATGATGATATCAAACA	0.318000													13	22					0	0	0.00244969	0	0
PTCD2	79810	broad.mit.edu	37	5	71627109	71627109	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:71627109C>T	ENST00000380639.5	+	4	391	c.375C>T	c.(373-375)ttC>ttT	p.F125F	PTCD2_ENST00000503868.1_Intron|PTCD2_ENST00000536805.1_Intron|PTCD2_ENST00000543322.1_Silent_p.F125F	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	125										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		ACAAAAATTTCACTTTGGGGG	0.428000													46	97					0	0	0.000781405	0	0
SLC38A8	146167	broad.mit.edu	37	16	84070371	84070371	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:84070371G>A	ENST00000299709.3	-	2	323	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	108					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGTTGAGGAGGAAGCAGGCCT	0.627000													6	24					0	0	0.00198382	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42439349	42439349	+	Silent	SNP	G	G	A	rs144722412		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:42439349G>A	ENST00000397272.3	-	13	1489	c.1398C>T	c.(1396-1398)ctC>ctT	p.L466L	PLA2G4F_ENST00000382396.4_Silent_p.L464L	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	464	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		ACTCAACAAGGAGGCCCCAGA	0.592000													5	16					0	0	0.00116845	0	0
IZUMO1	284359	broad.mit.edu	37	19	49244246	49244246	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:49244246G>A	ENST00000332955.2	-	10	1519	c.972C>T	c.(970-972)tcC>tcT	p.S324S		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	324					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CAAACAGTGAGGATTTGATGA	0.493000													14	73					0	0	0.000422831	0	0
GGT2	728441	broad.mit.edu	37	22	21563091	21563091	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:21563091G>A	ENST00000401924.1	-	13	1922	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	GGT2_ENST00000424627.1_Silent_p.I477I|GGT2_ENST00000405188.4_Silent_p.I467I					gamma-glutamyltransferase 2																		TGTCTGTGGTGATCTGCGTGC	0.647000													15	45					0	0	0.000566183	0	0
ZNF79	7633	broad.mit.edu	37	9	130207219	130207219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:130207219G>A	ENST00000342483.5	+	5	1646	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	ZNF79_ENST00000543471.1_Missense_Mutation_p.E390K	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CCACACCGGGGAGAAGCCATA	0.483000													43	51					0	0	0.00170553	0	0
ABHD13	84945	broad.mit.edu	37	13	108881849	108881849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:108881849G>A	ENST00000375898.3	+	2	584	c.283G>A	c.(283-285)Gat>Aat	p.D95N		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	95						integral to membrane	hydrolase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CAGAACCAAAGATGGAATACG	0.393000													13	32					0	0	0.00244969	0	0
BOD1L1	259282	broad.mit.edu	37	4	13606324	13606324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:13606324G>A	ENST00000040738.5	-	10	2335	c.2200C>T	c.(2200-2202)Cca>Tca	p.P734S		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	734	Lys-rich.						DNA binding										TCTTCCGATGGAGTTTTCTCT	0.363000													21	35					0	0	0.00121646	0	0
PHACTR3	116154	broad.mit.edu	37	20	58349480	58349480	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:58349480C>T	ENST00000371015.1	+	7	1576	c.1109C>T	c.(1108-1110)tCt>tTt	p.S370F	PHACTR3_ENST00000541461.1_Missense_Mutation_p.S329F|PHACTR3_ENST00000355648.4_Missense_Mutation_p.S329F|PHACTR3_ENST00000359926.3_Missense_Mutation_p.S367F|PHACTR3_ENST00000395636.2_Missense_Mutation_p.S329F|PHACTR3_ENST00000395639.4_Missense_Mutation_p.S259F|PHACTR3_ENST00000361300.4_Missense_Mutation_p.S259F	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	370						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			ATCATAAATTCTGAACTCAAA	0.493000													43	115					0	0	0.00285205	0	0
RBMS3	27303	broad.mit.edu	37	3	29476339	29476339	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:29476339A>G	ENST00000434693.2	+	2	878	c.178A>G	c.(178-180)Acc>Gcc	p.T60A	RBMS3_ENST00000445033.1_Missense_Mutation_p.T61A|RBMS3_ENST00000452462.1_Missense_Mutation_p.T61A|RBMS3_ENST00000273139.9_Missense_Mutation_p.T61A|RBMS3_ENST00000383766.2_Missense_Mutation_p.T60A|RBMS3_ENST00000396583.3_Missense_Mutation_p.T61A|RBMS3_ENST00000456853.1_Missense_Mutation_p.T61A|RBMS3_ENST00000383767.2_Missense_Mutation_p.T61A	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	61						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GTTGAGTAAAACCAACCTGTA	0.572000													34	29					0	0	0.00058488	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62374129	62374129	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:62374129C>T	ENST00000266077.2	+	7	1090	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	346						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCTCCAGGATCGGAGTCACCC	0.716000													5	8					0	0	0.000602214	0	0
TRIM25	7706	broad.mit.edu	37	17	54969163	54969163	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:54969163G>A	ENST00000316881.4	-	9	1840	c.1791C>T	c.(1789-1791)gtC>gtT	p.V597V	RP11-670E13.5_ENST00000574826.1_RNA|TRIM25_ENST00000537230.1_Silent_p.V597V	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	597	B30.2/SPRY.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					ACATCAGGTGGACCTTGTCGG	0.552000													11	26					0	0	0.000978159	0	0
DNAH8	1769	broad.mit.edu	37	6	38705606	38705606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:38705606G>A	ENST00000359357.3	+	5	577	c.323G>A	c.(322-324)gGa>gAa	p.G108E	DNAH8_ENST00000441566.1_Missense_Mutation_p.G108E|DNAH8_ENST00000449981.2_Missense_Mutation_p.G325E					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						AGTATTGAGGGAACAGTGAAG	0.264000													30	53					0	0	0.0024448	0	0
BAAT	570	broad.mit.edu	37	9	104125001	104125001	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:104125001G>A	ENST00000259407.2	-	4	1074	c.966C>T	c.(964-966)ttC>ttT	p.F322F	BAAT_ENST00000395051.3_Silent_p.F322F	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	322					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CTCCTACAATGAAGAGGAATT	0.468000													21	80					0	0	0.00278032	0	0
BCL7A	605	broad.mit.edu	37	12	122496996	122496996	+	Splice_Site	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:122496996A>G	ENST00000538010.1	+	6	3294		c.e6-1		BCL7A_ENST00000261822.4_Splice_Site	NM_020993.3	NP_066273.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A						negative regulation of transcription, DNA-dependent					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		CCTCTCCCCAAGGATTTGGAA	0.537000			T	MYC	BNHL								30	33					0	0	0.00058488	0	0
FAM188B	84182	broad.mit.edu	37	7	30911861	30911861	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:30911861C>T	ENST00000265299.6	+	14	1826	c.1749C>T	c.(1747-1749)atC>atT	p.I583I	AQP1_ENST00000434909.2_5'UTR|AQP1_ENST00000509504.1_Silent_p.I46I|INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	583										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTTCCAGCATCCGCCAGGACT	0.592000													5	32					0	0	0.00116845	0	0
SERPINB5	5268	broad.mit.edu	37	18	61170677	61170677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:61170677C>T	ENST00000382771.4	+	7	1142	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S		NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	284					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						GATGATTGATCCCAAGGCTTG	0.448000													60	50					0	0	0.000781405	0	0
RFPL2	10739	broad.mit.edu	37	22	32588960	32588960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:32588960G>A	ENST00000400236.3	-	4	1420	c.215C>T	c.(214-216)tCc>tTc	p.S72F	RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Missense_Mutation_p.S72F|RFPL2_ENST00000400237.1_Missense_Mutation_p.S162F|RFPL2_ENST00000248980.4_Missense_Mutation_p.S101F	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	162							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CTTGATGTGGGAAGCCAGCCT	0.532000													37	160					0	0	0.000953801	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121991717	121991717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:121991717C>T	ENST00000263707.5	-	12	1245	c.1148G>A	c.(1147-1149)cGa>cAa	p.R383Q		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	383					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CAGGGGCACTCGATTCTGCTC	0.562000													18	57					0	0	0.000958276	0	0
NCR3	259197	broad.mit.edu	37	6	31557900	31557900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:31557900G>A	ENST00000376073.4	-	2	310	c.47C>T	c.(46-48)tCc>tTc	p.S16F	NCR3_ENST00000340027.5_Missense_Mutation_p.S16F|NCR3_ENST00000376071.4_Missense_Mutation_p.S16F|NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000376072.3_Missense_Mutation_p.S16F	NM_001145466.1	NP_001138938.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3	16					cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity	p.S16F(1)		cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						GAGAGCACAGGATCCTGGGGG	0.562000													11	11					0	0	0.000673444	0	0
KIF21B	23046	broad.mit.edu	37	1	200946498	200946498	+	Silent	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:200946498C>A	ENST00000332129.2	-	30	4444	c.4128G>T	c.(4126-4128)tcG>tcT	p.S1376S	KIF21B_ENST00000360529.5_Silent_p.S1376S|KIF21B_ENST00000422435.2_Silent_p.S1389S|KIF21B_ENST00000461742.2_Silent_p.S1389S	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1389					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCACCTGGCCCGAGGACCTGC	0.562000													6	121					0.00198382	0.00723911	0.00198382	1	0
DSC1	1823	broad.mit.edu	37	18	28719849	28719849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:28719849G>A	ENST00000257197.3	-	11	1786	c.1525C>T	c.(1525-1527)Cag>Tag	p.Q509*	DSC1_ENST00000257198.5_Nonsense_Mutation_p.Q509*|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	509	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCTAACTTCTGATACCTAATT	0.294000													5	35					0	0	0.00116845	0	0
KCNIP4	80333	broad.mit.edu	37	4	20884328	20884328	+	Silent	SNP	G	G	A	rs147165653		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:20884328G>A	ENST00000382152.2	-	2	233	c.66C>T	c.(64-66)ttC>ttT	p.F22F	KCNIP4_ENST00000359001.5_Intron|KCNIP4_ENST00000447367.2_Intron|KCNIP4_ENST00000509207.1_Intron|KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000382149.4_Intron|KCNIP4_ENST00000382150.4_Intron	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	22	KIS (By similarity).					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				GAGCGTACAGGAAACCTAGAA	0.507000													7	23					0	0	0.00198382	0	0
SLC2A3	6515	broad.mit.edu	37	12	8082411	8082411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:8082411C>T	ENST00000075120.7	-	6	970	c.730G>A	c.(730-732)Gat>Aat	p.D244N		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	244					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GCACTCTCATCTTTCATCTCC	0.483000													6	88					0	0	0.000978159	0	0
KIAA1217	56243	broad.mit.edu	37	10	24831670	24831670	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:24831670G>A	ENST00000376451.2	+	13	2892	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K	KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.E1195K|KIAA1217_ENST00000376452.3_Missense_Mutation_p.E1159K|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000307544.6_Missense_Mutation_p.E878K			Q5T5P2	SKT_HUMAN	KIAA1217	1195					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TGTTGAATATGAAAATGGCCC	0.423000													21	19					0	0	0.00229938	0	0
SLC12A3	6559	broad.mit.edu	37	16	56947280	56947280	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:56947280G>A	ENST00000438926.2	+	26	3085	c.3056G>A	c.(3055-3057)gGa>gAa	p.G1019E	SLC12A3_ENST00000566786.1_Missense_Mutation_p.G1018E|SLC12A3_ENST00000262502.5_Missense_Mutation_p.G1009E|SLC12A3_ENST00000563352.1_3'UTR|SLC12A3_ENST00000563236.1_Missense_Mutation_p.G1010E	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	1010					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CTGATCCGAGGAAACCAGGAA	0.552000													39	82					0	0	0.00222228	0	0
NEFL	4747	broad.mit.edu	37	8	24813201	24813201	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:24813201C>T	ENST00000221169.5	-	0	1423							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AACCATTCCTCAGCGTTCTGC	0.652000													17	19					0	0	0.000566183	0	0
HIST1H2BA	255626	broad.mit.edu	37	6	25727414	25727414	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:25727414C>T	ENST00000274764.2	+	1	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	93					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)	2						ACCATTTCTTCCAGAGAGATT	0.517000													20	70					0	0	0.00152264	0	0
BCAM	4059	broad.mit.edu	37	19	45321855	45321855	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:45321855C>T	ENST00000391955.1	+	9	1199	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S	BCAM_ENST00000270233.6_Silent_p.S385S			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	385	Ig-like C2-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TGAACTGCTCCGTGCACGGCC	0.647000													42	51					0	0	0.00222228	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147679	100147679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:100147679C>T	ENST00000231461.5	-	5	1262	c.952G>A	c.(952-954)Gat>Aat	p.D318N		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	318					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TTTAAGTCATCATAATAATGA	0.353000													22	11					0	0	0.00152264	0	0
ARNTL	406	broad.mit.edu	37	11	13387075	13387075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:13387075G>A	ENST00000389708.3	+	10	843	c.488G>A	c.(487-489)gGa>gAa	p.G163E	ARNTL_ENST00000396441.3_Missense_Mutation_p.G163E|ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000403290.1_Missense_Mutation_p.G163E|ARNTL_ENST00000361003.4_Missense_Mutation_p.G163E|ARNTL_ENST00000403510.3_Missense_Mutation_p.G120E|ARNTL_ENST00000401424.1_Missense_Mutation_p.G120E|ARNTL_ENST00000389707.4_Missense_Mutation_p.G163E|ARNTL_ENST00000403482.3_Missense_Mutation_p.G161E			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	163	PAS 1.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TTTGTCGTAGGATGTGACCGA	0.418000													20	23					0	0	0.000720815	0	0
HECW1	23072	broad.mit.edu	37	7	43484569	43484569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:43484569C>T	ENST00000395891.1	+	11	2403	c.1798C>T	c.(1798-1800)Ctc>Ttc	p.L600F	HECW1_ENST00000453890.1_Missense_Mutation_p.L600F	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	600					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GAAGGATGGGCTCAGCGAGGT	0.701000													6	32					0	0	0.00198382	0	0
MUC16	94025	broad.mit.edu	37	19	9068704	9068704	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9068704G>A	ENST00000397910.4	-	3	18945	c.18742C>T	c.(18742-18744)Ctt>Ttt	p.L6248F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6250	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACAGAAACAAGAGAGGAGGTA	0.478000													39	35					0	0	0.00170553	0	0
BMP10	27302	broad.mit.edu	37	2	69093550	69093550	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:69093550C>T	ENST00000295379.1	-	2	646	c.488G>A	c.(487-489)cGg>cAg	p.R163Q		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	163					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						GGTAATTTTCCGGTCTACTCC	0.443000													8	43					0	0	0.000442599	0	0
PRDM9	56979	broad.mit.edu	37	5	23524458	23524458	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:23524458C>T	ENST00000296682.3	+	10	1148	c.966C>T	c.(964-966)gcC>gcT	p.A322A		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	322	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGAACTGTGCCCGGGATGATG	0.537000										HNSCC(3;0.000094)			11	36					0	0	0.00188189	0	0
LONP2	83752	broad.mit.edu	37	16	48337130	48337130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:48337130C>T	ENST00000285737.4	+	11	1802	c.1709C>T	c.(1708-1710)gCc>gTc	p.A570V	LONP2_ENST00000535754.1_Missense_Mutation_p.A526V	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	570					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAACTTGGGGCCATTTGCCGA	0.438000													24	54					0	0	0.000720815	0	0
KCNH4	23415	broad.mit.edu	37	17	40321672	40321672	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:40321672G>A	ENST00000264661.3	-	9	1745	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	KCNH4_ENST00000607371.1_Silent_p.F471F	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	471					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCACGTTCCCGAACACCACAG	0.657000													20	44					0	0	0.00047179	0	0
PEG3	5178	broad.mit.edu	37	19	57326440	57326440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:57326440C>T	ENST00000326441.9	-	10	3733	c.3370G>A	c.(3370-3372)Gac>Aac	p.D1124N	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.D998N|PEG3_ENST00000423103.2_Missense_Mutation_p.D1124N|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.D1000N|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1124					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)		TTCTGATGGTCTGTGAGGTCT	0.488000													52	89					0	0	0.000781405	0	0
GLG1	2734	broad.mit.edu	37	16	74516938	74516938	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:74516938G>A	ENST00000422840.2	-	10	1655	c.1656C>T	c.(1654-1656)ttC>ttT	p.F552F	GLG1_ENST00000447066.2_Silent_p.F541F|GLG1_ENST00000205061.5_Silent_p.F552F	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	552						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CCCGGGAGATGAAATACTGCA	0.393000													37	79					0	0	0.00128727	0	0
HNF4A	3172	broad.mit.edu	37	20	43058294	43058294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:43058294G>A	ENST00000316099.3	+	10	1503	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	HNF4A_ENST00000415691.1_Missense_Mutation_p.E462K|HNF4A_ENST00000457232.1_Missense_Mutation_p.E440K	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	472					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CACCAAGCAGGAAGTTATCTA	0.632000													77	213					0	0	0.000781405	0	0
HNF4A	3172	broad.mit.edu	37	20	43057087	43057087	+	Silent	SNP	C	C	T	rs141448616		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:43057087C>T	ENST00000316099.3	+	9	1331	c.1242C>T	c.(1240-1242)aaC>aaT	p.N414N	HNF4A_ENST00000415691.1_Silent_p.N414N|HNF4A_ENST00000457232.1_Silent_p.N392N	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	414					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ACCTCAGCAACGGACAGATGT	0.582000													65	239					0	0	0.000781405	0	0
SLFN11	91607	broad.mit.edu	37	17	33690150	33690150	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:33690150T>A	ENST00000394566.1	-	4	949	c.677A>T	c.(676-678)tAt>tTt	p.Y226F	SLFN11_ENST00000308377.4_Missense_Mutation_p.Y226F	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	226						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTTTTTACATATTCTTGGAA	0.383000													61	24					0	0	0.000781405	0	0
TENM2	57451	broad.mit.edu	37	5	167420183	167420183	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:167420183C>T	ENST00000519204.1	+	4	937	c.819C>T	c.(817-819)ttC>ttT	p.F273F	TENM2_ENST00000403607.2_Silent_p.F227F|TENM2_ENST00000545108.1_Silent_p.F394F|TENM2_ENST00000520394.1_Silent_p.F203F|TENM2_ENST00000518659.1_Silent_p.F394F					teneurin transmembrane protein 2																		TGGCGTATTTCATAGGTAAGT	0.532000													19	30					0	0	0.00121646	0	0
SPPL2C	162540	broad.mit.edu	37	17	43924178	43924178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:43924178C>T	ENST00000329196.5	+	1	1923	c.1906C>T	c.(1906-1908)Cca>Tca	p.P636S	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	636						integral to membrane	aspartic-type endopeptidase activity										CATGCTGATCCCACTCATGCC	0.662000													32	23					0	0	0.0024448	0	0
LYNX1	66004	broad.mit.edu	37	8	143857012	143857012	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:143857012G>A	ENST00000398906.1	-	3	537	c.154_splice	c.e3+1	p.T51_splice	LYNX1_ENST00000335822.5_Splice_Site_p.T51_splice|LYNX1_ENST00000523332.1_Splice_Site_p.T51_splice|LYNX1_ENST00000395192.2_Splice_Site_p.T51_splice|LYNX1_ENST00000345173.6_Splice_Site_p.T51_splice	NM_177477.2	NP_803430.1	Q86SR0	SLUR2_HUMAN	Ly6/neurotoxin 1	52	UPAR/Ly6.					extracellular region				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CAGACTCACAGGTGCGCGTGG	0.662000													8	5					0	0	0.000157383	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677298	37677298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:37677298G>A	ENST00000532828.2	-	5	1392	c.1141C>T	c.(1141-1143)Cct>Tct	p.P381S	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.P326S	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATTCATAAGGTTTCTCTCCA	0.413000													23	85					0	0	0.000878237	0	0
COL1A2	1278	broad.mit.edu	37	7	94058723	94058723	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:94058723T>C	ENST00000297268.6	+	51	4406	c.3935T>C	c.(3934-3936)gTt>gCt	p.V1312A		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1312	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ACTTACACTGTTCTTGTAGAT	0.478000										HNSCC(75;0.22)			53	3					0	0	0.000781405	0	0
NEURL1	9148	broad.mit.edu	37	10	105330650	105330650	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:105330650C>T	ENST00000369780.4	+	2	516	c.107C>T	c.(106-108)cCc>cTc	p.P36L	NEURL_ENST00000369777.2_Missense_Mutation_p.P19L	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		36					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GGCCCCTTCCCCGTCACTTCT	0.652000													44	56					0	0	0.000781405	0	0
PPARD	5467	broad.mit.edu	37	6	35392531	35392531	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:35392531C>T	ENST00000311565.4	+	8	1402	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	PPARD_ENST00000337400.2_Silent_p.F351F|PPARD_ENST00000360694.3_Silent_p.F351F|PPARD_ENST00000540939.1_Silent_p.F248F|PPARD_ENST00000448077.2_Silent_p.F312F|PPARD_ENST00000418635.2_Silent_p.F253F|PPARD_ENST00000444397.1_Silent_p.F351F	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	351	Ligand-binding.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	TGGCCCTATTCATTGCGGCCA	0.567000													17	12					0	0	0.00152264	0	0
LRRC30	339291	broad.mit.edu	37	18	7231221	7231221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:7231221C>T	ENST00000383467.2	+	1	99	c.85C>T	c.(85-87)Ccg>Tcg	p.P29S		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	29										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GAAGTTTTCTCCGTGGGACGA	0.607000													42	38					0	0	0.00170553	0	0
CDH9	1007	broad.mit.edu	37	5	26915833	26915833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:26915833G>A	ENST00000231021.4	-	3	600	c.428C>T	c.(427-429)tCg>tTg	p.S143L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	143	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GATAAATTCCGATTCCGGTTC	0.398000													67	32					0	0	0.000781405	0	0
IKZF2	22807	broad.mit.edu	37	2	213872633	213872633	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:213872633G>A	ENST00000457361.1	-	8	1200	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	IKZF2_ENST00000374327.4_Silent_p.I199I|IKZF2_ENST00000342002.2_Silent_p.I350I|IKZF2_ENST00000421754.2_Silent_p.I270I|IKZF2_ENST00000451136.2_Silent_p.I272I|IKZF2_ENST00000374319.4_Silent_p.I318I|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000434687.1_Silent_p.I344I	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CCACTTCAGCGATTGTGCTTG	0.478000													6	18					0	0	0.000157383	0	0
COL12A1	1303	broad.mit.edu	37	6	75828862	75828862	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:75828862C>T	ENST00000322507.8	-	46	7560	c.7251G>A	c.(7249-7251)tgG>tgA	p.W2417*	COL12A1_ENST00000483888.2_Nonsense_Mutation_p.W2417*|COL12A1_ENST00000345356.6_Nonsense_Mutation_p.W1253*|COL12A1_ENST00000416123.2_Nonsense_Mutation_p.W2417*	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2417	VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGCCGCTCTCCCAAGTCAAGA	0.498000													8	15					0	0	0.000157383	0	0
EPHA7	2045	broad.mit.edu	37	6	94120784	94120784	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:94120784C>T	ENST00000369303.4	-	3	451	c.267G>A	c.(265-267)tgG>tgA	p.W89*	EPHA7_ENST00000369297.1_Nonsense_Mutation_p.W89*	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	89						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTTTGGAAATCCAGTTAGTCC	0.438000													17	24					0	0	0.000422831	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067241	18067241	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:18067241G>A	ENST00000506618.2	-	1	245	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	55					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CACTCTGAACGATGTAGACAT	0.493000													195	302					0	0	0.000781405	0	0
GRIK3	2899	broad.mit.edu	37	1	37270690	37270690	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:37270690G>A	ENST00000373091.3	-	15	2479	c.2463C>T	c.(2461-2463)atC>atT	p.I821I	GRIK3_ENST00000373093.4_Silent_p.I821I	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	821					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AGATGCCCCCGATCTTCTGGA	0.597000													32	104					0	0	0.000692331	0	0
NUP210L	91181	broad.mit.edu	37	1	154101776	154101776	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:154101776T>C	ENST00000368559.3	-	8	1126	c.1055A>G	c.(1054-1056)tAt>tGt	p.Y352C	NUP210L_ENST00000271854.3_Missense_Mutation_p.Y352C	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	352						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTCTACAACATATATGGTGCA	0.363000													30	173					0	0	0.00058488	0	0
FAM46D	169966	broad.mit.edu	37	X	79698282	79698282	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:79698282G>A	ENST00000538312.1	+	5	578	c.244G>A	c.(244-246)Gat>Aat	p.D82N	FAM46D_ENST00000308293.5_Missense_Mutation_p.D82N	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	82										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						CAGCTATAAGGATCTGGACGT	0.383000													5	10					0	0	0.00116845	0	0
KIF21B	23046	broad.mit.edu	37	1	200957646	200957646	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:200957646C>T	ENST00000332129.2	-	23	3641	c.3325G>A	c.(3325-3327)Gag>Aag	p.E1109K	KIF21B_ENST00000360529.5_Missense_Mutation_p.E1109K|KIF21B_ENST00000422435.2_Missense_Mutation_p.E1109K|KIF21B_ENST00000461742.2_Missense_Mutation_p.E1109K	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1109					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCTGAGATCTCCTCATCTGTG	0.597000													4	15					0	0	0.000602214	0	0
FOXP2	93986	broad.mit.edu	37	7	114304412	114304412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:114304412C>T	ENST00000408937.3	+	17	2373	c.1999C>T	c.(1999-2001)Cac>Tac	p.H667Y	FOXP2_ENST00000393489.3_Missense_Mutation_p.H550Y|FOXP2_ENST00000393494.2_Missense_Mutation_p.H642Y|FOXP2_ENST00000350908.4_Missense_Mutation_p.H642Y|FOXP2_ENST00000393491.3_Missense_Mutation_p.H457Y|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393498.2_Missense_Mutation_p.H621Y|FOXP2_ENST00000403559.4_Missense_Mutation_p.H659Y	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	642					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	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(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GCAGGCCGTCCACGAAGACCT	0.488000													33	9					0	0	0.0024448	0	0
ITGAD	3681	broad.mit.edu	37	16	31429642	31429642	+	Silent	SNP	C	C	T	rs139262186		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:31429642C>T	ENST00000389202.2	+	22	2686	c.2637C>T	c.(2635-2637)ttC>ttT	p.F879F		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	879					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TAGTCACATTCGATGTCTCCT	0.562000													18	51					0	0	0.00278032	0	0
TNK2	10188	broad.mit.edu	37	3	195615303	195615303	+	Missense_Mutation	SNP	G	G	A	rs142416449		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:195615303G>A	ENST00000333602.6	-	2	774	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	TNK2_ENST00000381916.2_Missense_Mutation_p.R116W|TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000428187.1_Missense_Mutation_p.R85W|TNK2_ENST00000316664.3_Missense_Mutation_p.R53W|TNK2_ENST00000392400.1_Missense_Mutation_p.R53W	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	53	SAM-like domain.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CTACCAGGCCGACCCATGCCG	0.597000													17	43					0	0	0.00074312	0	0
GFRAL	389400	broad.mit.edu	37	6	55264058	55264058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:55264058C>T	ENST00000340465.2	+	7	1119	c.1033C>T	c.(1033-1035)Cat>Tat	p.H345Y		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	345						integral to membrane	receptor activity	p.H345Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AACTGGATTTCATTCCCCCTT	0.284000													9	9					0	0	0.000274275	0	0
SLC4A8	9498	broad.mit.edu	37	12	51863539	51863539	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:51863539G>A	ENST00000453097.2	+	12	1708	c.1491G>A	c.(1489-1491)ggG>ggA	p.G497G	SLC4A8_ENST00000358657.3_Silent_p.G524G|SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000394856.1_Silent_p.G444G|SLC4A8_ENST00000535225.2_Silent_p.G444G|SLC4A8_ENST00000514353.3_Silent_p.G444G	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	497					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCACCTTTGGGGGACTGCTTG	0.502000													29	78					0	0	0.0024448	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139395	142139395	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:142139395G>A	ENST00000390374.3	-	0	274																											GGGCAGCCCTGATTTGTCTTG	0.552000													69	38					0	0	0.000781405	0	0
CADPS2	93664	broad.mit.edu	37	7	122114448	122114448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:122114448G>A	ENST00000334010.7	-	12	2409	c.1988C>T	c.(1987-1989)tCc>tTc	p.S663F	CADPS2_ENST00000449022.2_Missense_Mutation_p.S662F|CADPS2_ENST00000313070.7_Missense_Mutation_p.S659F|CADPS2_ENST00000412584.2_Missense_Mutation_p.S659F	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	662					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GCAAGAATAGGAATCATTCAG	0.378000													19	65					0	0	0.00152264	0	0
MDC1	9656	broad.mit.edu	37	6	30680194	30680194	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:30680194G>A	ENST00000376406.3	-	5	2172	c.1525C>T	c.(1525-1527)Cac>Tac	p.H509Y	MDC1_ENST00000376405.2_Missense_Mutation_p.H509Y|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	509	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTCTCCAGGTGGATCCCAGGT	0.488000								Other conserved DNA damage response genes					34	76					0	0	0.000692331	0	0
KRT5	3852	broad.mit.edu	37	12	52913943	52913943	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:52913943G>A	ENST00000252242.4	-	1	528	c.138C>T	c.(136-138)ttC>ttT	p.F46F		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	46	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	p.F46F(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGACCCTGCCGAAGCCACCAC	0.652000													15	27					0	0	0.000308642	0	0
OR6T1	219874	broad.mit.edu	37	11	123813676	123813676	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:123813676G>A	ENST00000321252.2	-	1	904	c.870C>T	c.(868-870)ttC>ttT	p.F290F		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGCGGAGAGTGAAGATGAATG	0.512000													52	76					0	0	0.000781405	0	0
CLDN7	1366	broad.mit.edu	37	17	7164257	7164257	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:7164257C>T	ENST00000538261.3	-	2	1172	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000571881.2_Missense_Mutation_p.G82E|CLDN7_ENST00000397317.4_Missense_Mutation_p.G91S|CLDN7_ENST00000360325.7_Missense_Mutation_p.G91S	NM_001185023.1	NP_001171952.1	O95471	CLD7_HUMAN	claudin 7	91					calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						GCCAGGAAGCCCAGCACCAGG	0.632000													20	2					0	0	0.00121646	0	0
ELMO1	9844	broad.mit.edu	37	7	37354483	37354483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:37354483C>T	ENST00000310758.4	-	4	810	c.163G>A	c.(163-165)Gat>Aat	p.D55N	ELMO1_ENST00000448602.1_Missense_Mutation_p.D55N|ELMO1_ENST00000442504.1_Missense_Mutation_p.D55N	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	55					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTTGAACTATCGGCATGCTGG	0.323000													23	32					0	0	0.001512	0	0
WFS1	7466	broad.mit.edu	37	4	6279305	6279305	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:6279305C>T	ENST00000226760.1	+	2	293	c.123C>T	c.(121-123)ccC>ccT	p.P41P	WFS1_ENST00000503569.1_Silent_p.P41P	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	41					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GCGAAAGGCCCCGAGCACCCG	0.711000													38	72					0	0	0.00128727	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870663	51870663	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:51870663G>A	ENST00000371497.5	+	2	1553	c.666G>A	c.(664-666)gcG>gcA	p.A222A	TSHZ2_ENST00000329613.6_Silent_p.A219A|TSHZ2_ENST00000603338.2_Silent_p.A219A	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	222					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGTGCAGCGCGGCCTATGACA	0.557000													13	46					0	0	0.00185496	0	0
SLC4A10	57282	broad.mit.edu	37	2	162719394	162719394	+	Silent	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:162719394T>A	ENST00000375514.5	+	7	908	c.621T>A	c.(619-621)ctT>ctA	p.L207L	SLC4A10_ENST00000272716.5_Silent_p.L196L|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000535165.1_Silent_p.L196L|SLC4A10_ENST00000415876.2_Silent_p.L196L|SLC4A10_ENST00000446997.1_Silent_p.L196L|SLC4A10_ENST00000421911.1_Silent_p.L196L	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	196					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATATGGTTCTTGACCAACAAG	0.458000													8	14					0	0	0.000442599	0	0
KLF17	128209	broad.mit.edu	37	1	44595390	44595390	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:44595390G>A	ENST00000372299.3	+	2	505	c.447G>A	c.(445-447)ggG>ggA	p.G149G	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	149					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CCTTCGGTGGGAATCTAAGGA	0.567000													19	20					0	0	0.00074312	0	0
PRRC2A	7916	broad.mit.edu	37	6	31594925	31594925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:31594925C>T	ENST00000376033.2	+	11	1474	c.1240C>T	c.(1240-1242)Cca>Tca	p.P414S	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P414S	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	414	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCCCCTACCCCCACCTCACCG	0.657000													7	10					0	0	0.000157383	0	0
FMO2	2327	broad.mit.edu	37	1	171168578	171168578	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:171168578G>A	ENST00000441535.1	+	5	695	c.578G>A	c.(577-579)gGa>gAa	p.G193E	FMO2_ENST00000529935.1_Intron|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.G193E|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	193					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTGGAATGGGAAACTCAGGC	0.493000													14	100					0	0	0.000958276	0	0
ASCC2	84164	broad.mit.edu	37	22	30200727	30200727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:30200727G>A	ENST00000397771.2	-	14	1430	c.1253C>T	c.(1252-1254)tCg>tTg	p.S418L	ASCC2_ENST00000542393.1_Missense_Mutation_p.S342L|ASCC2_ENST00000307790.3_Missense_Mutation_p.S418L			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CTCAATCACCGATGGGTCTTT	0.582000													83	589					0	0	0.000781405	0	0
PRR16	51334	broad.mit.edu	37	5	120022262	120022262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:120022262C>T	ENST00000379551.2	+	3	1061	c.704C>T	c.(703-705)cCt>cTt	p.P235L	PRR16_ENST00000505123.1_Missense_Mutation_p.P188L|PRR16_ENST00000407149.2_Missense_Mutation_p.P258L|PRR16_ENST00000446965.1_Missense_Mutation_p.P188L	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	258	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CCCCATCTCCCTCCTTTCCCA	0.537000													9	7					0	0	0.000442599	0	0
GPR149	344758	broad.mit.edu	37	3	154147234	154147234	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:154147234G>A	ENST00000389740.2	-	1	270	c.171C>T	c.(169-171)tcC>tcT	p.S57S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	57						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTTCAGCAGGGAAATTAGTG	0.443000													21	53					0	0	0.00152264	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895554	42895554	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:42895554G>A	ENST00000399770.2	+	1	271	c.271G>A	c.(271-273)Ggt>Agt	p.G91S		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	91			G -> V.		cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CAGTGAGAAGGGTTTTGGTAC	0.453000													23	18					0	0	0.00047179	0	0
CASR	846	broad.mit.edu	37	3	121981042	121981042	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:121981042G>A	ENST00000498619.1	+	4	1598	c.1160G>A	c.(1159-1161)aGc>aAc	p.S387N	CASR_ENST00000490131.1_Missense_Mutation_p.S387N|CASR_ENST00000296154.5_Missense_Mutation_p.S387N	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	387					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TTTAGCAACAGCTCGACAGCC	0.488000													15	49					0	0	0.00244969	0	0
F8	2157	broad.mit.edu	37	X	154175986	154175986	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:154175986C>T	ENST00000360256.4	-	13	2300	c.2100G>A	c.(2098-2100)tcG>tcA	p.S700S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	700	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGTTTTCCATCGACATGAAGA	0.413000													40	52					0	0	0.000781405	0	0
GJA4	2701	broad.mit.edu	37	1	35260362	35260362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:35260362C>T	ENST00000342280.4	+	2	636	c.548C>T	c.(547-549)cCc>cTc	p.P183L		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	183					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ACCATGGAGCCCGTGTTTGTG	0.587000													17	60					0	0	0.000566183	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6882234	6882234	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:6882234C>T	ENST00000419673.2	+	10	1129	c.912C>T	c.(910-912)ttC>ttT	p.F304F	ARHGAP28_ENST00000418986.1_Silent_p.F304F|ARHGAP28_ENST00000400091.2_Silent_p.F463F|ARHGAP28_ENST00000383472.4_Silent_p.F463F|ARHGAP28_ENST00000262227.3_Silent_p.F411F|ARHGAP28_ENST00000532996.1_Silent_p.F286F|ARHGAP28_ENST00000314319.3_Silent_p.F304F|ARHGAP28_ENST00000531294.1_Silent_p.F299F	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	286					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AAGCGTTTTTCAGAGAACTAC	0.393000													18	68					0	0	0.00152264	0	0
DNAH17	8632	broad.mit.edu	37	17	76471856	76471856	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:76471856C>T	ENST00000389840.5	-	53	8296	c.8172G>A	c.(8170-8172)ggG>ggA	p.G2724G	DNAH17_ENST00000585328.1_Silent_p.G2733G|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATCGCCAATCCCTTGAGCAA	0.438000													26	40					0	0	0.001512	0	0
PTPRB	5787	broad.mit.edu	37	12	70954661	70954661	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:70954661G>A	ENST00000334414.6	-	17	4266	c.4222C>T	c.(4222-4224)Ctt>Ttt	p.L1408F	PTPRB_ENST00000538708.1_Missense_Mutation_p.L1100F|PTPRB_ENST00000451516.2_Missense_Mutation_p.L1100F|PTPRB_ENST00000261266.5_Missense_Mutation_p.L1190F|PTPRB_ENST00000551525.1_Missense_Mutation_p.L1407F|PTPRB_ENST00000550857.1_Missense_Mutation_p.L1100F|PTPRB_ENST00000550358.1_Missense_Mutation_p.L1320F	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1190	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTGAACCAAAGGCTGTCTGTC	0.448000													27	55					0	0	0.00106085	0	0
ANKS6	203286	broad.mit.edu	37	9	101530400	101530400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:101530400G>A	ENST00000353234.4	-	11	2152	c.2105C>T	c.(2104-2106)cCa>cTa	p.P702L	ANKS6_ENST00000375018.1_Missense_Mutation_p.P702L|ANKS6_ENST00000375019.2_Missense_Mutation_p.P401L|ANKS6_ENST00000540940.1_Missense_Mutation_p.P507L			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	702	Ser-rich.									endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				AGGGGAGGCTGGAAGCTCAGA	0.587000													15	16					0	0	0.00244969	0	0
KIAA1024	23251	broad.mit.edu	37	15	79760660	79760660	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:79760660G>A	ENST00000305428.3	+	4	2760	c.2685G>A	c.(2683-2685)ctG>ctA	p.L895L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	895						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TAGCTGCTCTGATCGCTGCTG	0.453000													9	26					0	0	0.000274275	0	0
GTPBP1	9567	broad.mit.edu	37	22	39122340	39122340	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:39122340C>T	ENST00000216044.5	+	8	1529	c.1296C>T	c.(1294-1296)gaC>gaT	p.D432D	GTPBP1_ENST00000460605.1_3'UTR	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	432					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					TGGGCCCAGACCCCTTGGGTA	0.592000													56	41					0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13776775	13776775	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:13776775T>A	ENST00000265104.4	-	55	9250	c.9146A>T	c.(9145-9147)aAt>aTt	p.N3049I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3049	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGGTCGCTATTAATTTCATC	0.408000									Kartagener syndrome				22	34					0	0	0.00188189	0	0
FBXL13	222235	broad.mit.edu	37	7	102495290	102495290	+	Silent	SNP	G	G	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:102495290G>T	ENST00000379308.3	-	17	2079	c.1653C>A	c.(1651-1653)tcC>tcA	p.S551S	FBXL13_ENST00000455112.2_Silent_p.S551S|FBXL13_ENST00000436908.1_Silent_p.S551S|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Silent_p.S551S|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000393772.2_Intron			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	551										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TTTTATGTCTGGAAAGCACAT	0.264000													15	4					1.49906e-05	5.50843e-05	0.00244969	1	0
ADAMTS19	171019	broad.mit.edu	37	5	129037128	129037128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:129037128G>A	ENST00000274487.4	+	20	3129	c.2984G>A	c.(2983-2985)gGa>gAa	p.G995E	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	995	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGTGGAAAAGGAATGCAGAGC	0.488000													17	55					0	0	0.00121646	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90534241	90534241	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:90534241G>A	ENST00000602681.1	+	0	987																											CCAGAGGCAGGATGAAAAACC	0.542000													20	126					0	0	0.000878237	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786072	19786072	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:19786072C>T	ENST00000341998.2	-	1	854	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	SLC24A2_ENST00000286344.3_Missense_Mutation_p.E265K	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	265					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)		AGCAAGCTTTCCCACCACATG	0.383000													14	3					0	0	0.00244969	0	0
UNC5A	90249	broad.mit.edu	37	5	176295932	176295932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:176295932C>T	ENST00000329542.4	+	5	962	c.688C>T	c.(688-690)Cgc>Tgc	p.R230C	UNC5A_ENST00000261961.3_Missense_Mutation_p.R190C	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	230	Ig-like C2-type.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGTGGCACGTCGCCGCAGCGC	0.657000													16	18					0	0	0.00121646	0	0
TAT	6898	broad.mit.edu	37	16	71602167	71602167	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:71602167G>A	ENST00000355962.4	-	12	1378	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	415					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CCACTCGGATGAAATTCGGGT	0.522000													17	37					0	0	0.000566183	0	0
TXLNG	55787	broad.mit.edu	37	X	16847824	16847824	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:16847824C>T	ENST00000380122.5	+	5	856	c.795C>T	c.(793-795)ctC>ctT	p.L265L	TXLNG_ENST00000398155.4_Silent_p.L133L	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	265					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						ACGCCAAACTCCGACAGGAAA	0.453000													9	23					0	0	0.000442599	0	0
CD22	933	broad.mit.edu	37	19	35823503	35823503	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:35823503G>A	ENST00000085219.5	+	3	154	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	CD22_ENST00000544992.2_Missense_Mutation_p.E30K|CD22_ENST00000595419.1_3'UTR|CD22_ENST00000341773.6_Missense_Mutation_p.E30K|CD22_ENST00000594250.1_Missense_Mutation_p.E30K|CD22_ENST00000270311.6_5'UTR|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000536635.2_Missense_Mutation_p.E30K	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	30	Ig-like V-type.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TGAGCACCCTGAAACCCTCTA	0.512000													23	80					0	0	0.00188189	0	0
ESPNL	339768	broad.mit.edu	37	2	239025582	239025582	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:239025582C>T	ENST00000343063.3	+	5	1157	c.894C>T	c.(892-894)tcC>tcT	p.S298S	ESPNL_ENST00000409169.1_Intron	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	298										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGGACCCCTCCCTGCGGGATG	0.652000													16	35					0	0	0.000422831	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512659	70512659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:70512659C>T	ENST00000503640.1	-	1	759	c.704G>A	c.(703-705)aGt>aAt	p.S235N	UGT2A1_ENST00000512704.1_Missense_Mutation_p.S235N|UGT2A1_ENST00000286604.4_Missense_Mutation_p.S235N|UGT2A1_ENST00000514019.1_Missense_Mutation_p.S235N	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	235					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TAAAGCTTTACTATAGTATGA	0.323000													9	19					0	0	0.000274275	0	0
NHSL2	340527	broad.mit.edu	37	X	71359742	71359742	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:71359742G>A	ENST00000373677.1	+	2	2508	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N	NHSL2_ENST00000510661.1_Missense_Mutation_p.D551N|NHSL2_ENST00000535692.1_Missense_Mutation_p.D416N|NHSL2_ENST00000540800.1_Missense_Mutation_p.D782N			F5H593	F5H593_HUMAN	NHS-like 2	782										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					ACCCAACCTGGATCTGTCTGG	0.498000													13	3					0	0	0.000308642	0	0
KRT16P3	644945	broad.mit.edu	37	17	20407403	20407403	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:20407403C>T	ENST00000580113.1	-	0	252																											CACCAGAAGCCCATCAccacc	0.627000													15	11					0	0	0.000958276	0	0
TTN	7273	broad.mit.edu	37	2	179640734	179640734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179640734C>T	ENST00000589042.1	-	28	6081	c.5857G>A	c.(5857-5859)Gaa>Aaa	p.E1953K	TTN_ENST00000360870.5_Missense_Mutation_p.E1953K|TTN_ENST00000591111.1_Missense_Mutation_p.E1953K|TTN_ENST00000359218.5_Missense_Mutation_p.E1907K|TTN_ENST00000342175.6_Missense_Mutation_p.E1907K|TTN_ENST00000342992.6_Missense_Mutation_p.E1953K|TTN_ENST00000460472.2_Missense_Mutation_p.E1907K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1690							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)			TTTCCTGGTTCATGTACGTGA	0.418000													52	81					0	0	0.000781405	0	0
CRB1	23418	broad.mit.edu	37	1	197297974	197297974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:197297974G>A	ENST00000367400.3	+	2	628	c.493G>A	c.(493-495)Gat>Aat	p.D165N	CRB1_ENST00000535699.1_Missense_Mutation_p.D96N|CRB1_ENST00000367399.2_Missense_Mutation_p.D165N|CRB1_ENST00000538660.1_Missense_Mutation_p.D165N	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	165	EGF-like 4; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CGTGTGCCAGGATGGAATTGA	0.512000													6	36					0	0	0.00116845	0	0
ADK	132	broad.mit.edu	37	10	76154057	76154057	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:76154057C>T	ENST00000372734.3	+	5	568	c.381C>T	c.(379-381)atC>atT	p.I127I	ADK_ENST00000286621.2_Silent_p.I144I|ADK_ENST00000541550.1_Silent_p.I109I|ADK_ENST00000539909.1_Silent_p.I144I	NM_001123.3|NM_001202449.1	NP_001114.2|NP_001189378.1	P55263	ADK_HUMAN	adenosine kinase	144					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	CTGCATGCATCACTGGTGACA	0.413000													22	36					0	0	0.00047179	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110497314	110497314	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:110497314C>T	ENST00000378402.5	+	58	9722	c.9618C>T	c.(9616-9618)ttC>ttT	p.F3206F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3206					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCTACGATTTCCACCAGACAG	0.323000										HNSCC(38;0.096)			9	23					0	0	0.000442599	0	0
MAP7	9053	broad.mit.edu	37	6	136698940	136698940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:136698940G>A	ENST00000354570.3	-	7	1114	c.704C>T	c.(703-705)tCg>tTg	p.S235L	MAP7_ENST00000432797.2_Missense_Mutation_p.S89L|MAP7_ENST00000544465.1_Missense_Mutation_p.S220L|MAP7_ENST00000438100.2_Missense_Mutation_p.S220L|MAP7_ENST00000454590.1_Missense_Mutation_p.S257L	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	235					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GGCCAGGAACGAATGTGTGGG	0.527000													26	46					0	0	0.00127121	0	0
CSMD1	64478	broad.mit.edu	37	8	3076893	3076893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:3076893C>T	ENST00000520002.1	-	30	5114	c.4559G>A	c.(4558-4560)gGg>gAg	p.G1520E	CSMD1_ENST00000542608.1_Missense_Mutation_p.G1519E|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1519E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1519E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1520E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1520E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1520E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1520	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGGTAACTCCCAATGAGGGG	0.478000													15	7					0	0	0.000566183	0	0
PRDM16	63976	broad.mit.edu	37	1	3328303	3328303	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:3328303C>T	ENST00000378398.3	+	10	1627	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	PRDM16_ENST00000442529.2_Silent_p.F514F|PRDM16_ENST00000441472.2_Silent_p.F514F|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Silent_p.F514F|PRDM16_ENST00000270722.5_Silent_p.F514F|PRDM16_ENST00000514189.1_Silent_p.F515F|PRDM16_ENST00000511072.1_Silent_p.F515F			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	514	Pro-rich.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCCCCGGCTTCCCGGGCATCT	0.682000			T	EVI1	"""MDS, AML"""								28	125					0	0	0.00058488	0	0
GUCA1C	9626	broad.mit.edu	37	3	108626884	108626884	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:108626884C>T	ENST00000261047.3	-	4	747	c.615G>A	c.(613-615)aaG>aaA	p.K205K	GUCA1C_ENST00000393963.3_3'UTR	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	205					signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TCATTTTCACCTTCCCTAGAC	0.453000													8	21					0	0	0.000274275	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045040	55045040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:55045040C>T	ENST00000335056.3	+	3	198	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W															p.R54W(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TTCCCATCTTCGGTTTGTCAT	0.537000													16	42					0	0	0.00074312	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606249	84606249	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:84606249C>T	ENST00000344803.2	+	4	911	c.864C>T	c.(862-864)ccC>ccT	p.P288P		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CCATGAATCCCATTGATTCTT	0.483000													87	311					0	0	0.000781405	0	0
SLC6A4	6532	broad.mit.edu	37	17	28536188	28536188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:28536188C>T	ENST00000401766.2	-	11	2034	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	SLC6A4_ENST00000261707.3_Missense_Mutation_p.E508K			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	508					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GCGACTGCTTCGATCAGCGCG	0.597000													23	61					0	0	0.00278032	0	0
ERCC6	2074	broad.mit.edu	37	10	50690901	50690901	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:50690901G>A	ENST00000355832.5	-	10	2079	c.2001C>T	c.(1999-2001)acC>acT	p.T667T	ERCC6_ENST00000542458.1_Silent_p.T37T	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	667	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						TCCGATGAGGGGTGCGAAACT	0.448000								Direct reversal of damage;Nucleotide excision repair (NER)					34	42					0	0	0.00283554	0	0
CHRNB3	1142	broad.mit.edu	37	8	42586888	42586888	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:42586888C>T	ENST00000289957.2	+	5	566	c.438C>T	c.(436-438)ccC>ccT	p.P146P		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	146					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGACCCCTCCCGCCAGCTACA	0.532000													18	17					0	0	0.00121646	0	0
LIN28A	79727	broad.mit.edu	37	1	26751877	26751877	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:26751877G>A	ENST00000326279.6	+	3	426	c.312G>A	c.(310-312)ctG>ctA	p.L104L	LIN28A_ENST00000254231.4_Silent_p.L104L	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	104	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						CCAAGGGTCTGGAATCCATCC	0.527000													40	145					0	0	0.00148497	0	0
CCKAR	886	broad.mit.edu	37	4	26483310	26483310	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:26483310G>A	ENST00000295589.3	-	5	1431	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	413					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AACCTGGACAGAGAGGCTCCT	0.657000													35	71					0	0	0.000692331	0	0
HNRNPK	3190	broad.mit.edu	37	9	86586822	86586822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:86586822G>A	ENST00000376263.3	-	11	1151	c.928C>T	c.(928-930)Cct>Tct	p.P310S	HNRNPK_ENST00000360384.5_Missense_Mutation_p.P310S|HNRNPK_ENST00000351839.3_Missense_Mutation_p.P310S|HNRNPK_ENST00000376264.2_Missense_Mutation_p.P310S|HNRNPK_ENST00000376281.4_Missense_Mutation_p.P310S	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	310	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Poly-Pro.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GGTGGTGGAGGAAGAGGAAGA	0.512000													28	114					0	0	0.00058488	0	0
VPS13A	23230	broad.mit.edu	37	9	79853039	79853039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:79853039C>T	ENST00000360280.3	+	18	1977	c.1717C>T	c.(1717-1719)Cca>Tca	p.P573S	VPS13A_ENST00000376634.4_Missense_Mutation_p.P573S|VPS13A_ENST00000376636.3_Missense_Mutation_p.P573S|VPS13A_ENST00000357409.5_Missense_Mutation_p.P573S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	573					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGAGATAAATCCATTAGATGA	0.318000													60	94					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179470335	179470335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179470335C>T	ENST00000589042.1	-	279	53911	c.53687G>A	c.(53686-53688)gGa>gAa	p.G17896E	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G16255E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G8956E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G9023E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15328E|TTN_ENST00000460472.2_Missense_Mutation_p.G8831E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16255	Fibronectin type-III 29.						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)			AATGATATATCCTTGGATGGG	0.448000													11	41					0	0	0.000673444	0	0
FMN2	56776	broad.mit.edu	37	1	240255747	240255747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:240255747C>T	ENST00000319653.9	+	1	568	c.338C>T	c.(337-339)tCc>tTc	p.S113F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	113					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCGCTCACTCCCTGCTCACC	0.647000													5	23					0	0	0.000602214	0	0
CCNE2	9134	broad.mit.edu	37	8	95906253	95906253	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:95906253G>T	ENST00000520509.1	-	3	361	c.109C>A	c.(109-111)Cag>Aag	p.Q37K	CCNE2_ENST00000396133.3_Missense_Mutation_p.Q37K|CCNE2_ENST00000308108.4_Missense_Mutation_p.Q37K			O96020	CCNE2_HUMAN	cyclin E2	37					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TAAATCACCTGGGTAGTTTTC	0.468000													13	567					0.000308642	0.00113176	0.000308642	1	0
SORL1	6653	broad.mit.edu	37	11	121391410	121391410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:121391410G>A	ENST00000260197.7	+	9	1385	c.1256G>A	c.(1255-1257)gGa>gAa	p.G419E	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	419					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CGAGTGGAAGGATTGCAAGGA	0.393000													16	17					0	0	0.000566183	0	0
DAG1	1605	broad.mit.edu	37	3	49570616	49570616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:49570616C>T	ENST00000545947.1	+	6	3394	c.2672C>T	c.(2671-2673)cCc>cTc	p.P891L	DAG1_ENST00000538711.1_Missense_Mutation_p.P891L|DAG1_ENST00000539901.1_Missense_Mutation_p.P891L|DAG1_ENST00000541308.1_Missense_Mutation_p.P891L|DAG1_ENST00000515359.2_Missense_Mutation_p.P891L|DAG1_ENST00000308775.2_Missense_Mutation_p.P891L	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	891	Pro-rich.|Required for binding DMD and UTRN.|Required for interaction with CAV3.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCACCTCCTCCCTATGTCCCA	0.652000													9	25					0	0	0.000442599	0	0
ANKLE1	126549	broad.mit.edu	37	19	17396343	17396343	+	Missense_Mutation	SNP	C	C	T	rs149727291		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:17396343C>T	ENST00000394458.3	+	7	1756	c.1480C>T	c.(1480-1482)Cgg>Tgg	p.R494W	ANKLE1_ENST00000594072.1_Missense_Mutation_p.R457W|ANKLE1_ENST00000598347.1_Missense_Mutation_p.R468W|ANKLE1_ENST00000404085.1_Missense_Mutation_p.R490W|ANKLE1_ENST00000433424.2_3'UTR	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	494						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GACGAGGGCCCGGCCATATGT	0.617000													39	112					0	0	0.00128727	0	0
MUC16	94025	broad.mit.edu	37	19	9067341	9067341	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9067341G>A	ENST00000397910.4	-	3	20308	c.20105C>T	c.(20104-20106)cCa>cTa	p.P6702L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6704	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCAGGGCCTGGAATGGATGT	0.478000													37	154					0	0	0.00111076	0	0
TMEM214	54867	broad.mit.edu	37	2	27258879	27258879	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:27258879C>T	ENST00000238788.9	+	5	741	c.679C>T	c.(679-681)Ctg>Ttg	p.L227L	TMEM214_ENST00000404032.3_Silent_p.L182L	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	227						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCAGGCCATCCTGCAAGACAA	0.522000													16	41					0	0	0.00074312	0	0
HAPLN4	404037	broad.mit.edu	37	19	19368843	19368843	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:19368843G>A	ENST00000291481.7	-	5	1055	c.992C>T	c.(991-993)cCc>cTc	p.P331L	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	331	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			GTTCACGATGGGGTAGCGCGC	0.721000													3	3					0	0	6.4e-05	0	0
ABCC3	8714	broad.mit.edu	37	17	48745355	48745355	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:48745355C>T	ENST00000285238.8	+	13	1847	c.1767C>T	c.(1765-1767)atC>atT	p.I589I		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	589	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCCAGTTAATCAGCAACCTGA	0.522000													16	30					0	0	0.000308642	0	0
TEP1	7011	broad.mit.edu	37	14	20871883	20871883	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:20871883G>A	ENST00000262715.5	-	6	1233	c.1194_splice	c.e6+1	p.P398_splice	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	398	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTGACTGACTGGAGAGCGGGG	0.617000													23	52					0	0	0.000586117	0	0
ZNF627	199692	broad.mit.edu	37	19	11725377	11725377	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:11725377C>T	ENST00000361113.5	+	2	247	c.39C>T	c.(37-39)ttC>ttT	p.F13F	ZNF627_ENST00000588174.1_Silent_p.F13F	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						CTGTGAACTTCACCCTGGAGG	0.532000													27	90					0	0	0.00127121	0	0
FABP6	2172	broad.mit.edu	37	5	159661850	159661850	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:159661850G>A	ENST00000393980.4	+	6	560	c.414G>A	c.(412-414)ggG>ggA	p.G138G	FABP6_ENST00000402432.3_Silent_p.G89G|FABP6_ENST00000393982.1_Silent_p.G138G	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	89					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAGGGCGGGAAGCTGGTGG	0.547000													9	29					0	0	0.000673444	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33958864	33958864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:33958864C>T	ENST00000361328.3	+	7	1675	c.1522C>T	c.(1522-1524)Cgt>Tgt	p.R508C		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	508					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGAAAAGCTTCGTACCTGTCA	0.562000													30	28					0	0	0.00178596	0	0
GLP2R	9340	broad.mit.edu	37	17	9757905	9757905	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:9757905C>T	ENST00000262441.5	+	5	1111	c.598C>T	c.(598-600)Ctc>Ttc	p.L200F	GLP2R_ENST00000574745.1_Missense_Mutation_p.L20F	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	200					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TCTCACCCTCCTCTTGTTTCT	0.498000													50	49					0	0	0.000781405	0	0
NLRP4	147945	broad.mit.edu	37	19	56370415	56370415	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:56370415G>A	ENST00000301295.6	+	3	2078	c.1656G>A	c.(1654-1656)gcG>gcA	p.A552A	NLRP4_ENST00000587891.1_Silent_p.A477A|NLRP4_ENST00000346986.5_Silent_p.A552A	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	552							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATTCCTTGGCGATATTTTACT	0.473000													46	36					0	0	0.00222228	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755310	140755310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140755310G>A	ENST00000517434.1	+	1	1660	c.1660G>A	c.(1660-1662)Gac>Aac	p.D554N	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTGTGCTGGACCAGAATGA	0.637000													30	96					0	0	0.00283554	0	0
CYP2C18	1562	broad.mit.edu	37	10	96447642	96447642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:96447642C>T	ENST00000285979.6	+	2	483	c.284C>T	c.(283-285)tCt>tTt	p.S95F	CYP2C18_ENST00000339022.5_Missense_Mutation_p.S95F	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		GAGGAGTTTTCTGGAAGAGGA	0.458000													26	27					0	0	0.001512	0	0
EPN1	29924	broad.mit.edu	37	19	56203253	56203253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:56203253C>T	ENST00000411543.2	+	7	1701	c.1154C>T	c.(1153-1155)cCc>cTc	p.P385L	EPN1_ENST00000270460.6_Missense_Mutation_p.P299L|EPN1_ENST00000085079.7_Missense_Mutation_p.P274L	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	299	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		TGGGGCGGCCCCCCTGTCCCT	0.756000													6	24					0	0	0.00116845	0	0
SLC4A8	9498	broad.mit.edu	37	12	51863538	51863538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:51863538G>A	ENST00000453097.2	+	12	1707	c.1490G>A	c.(1489-1491)gGg>gAg	p.G497E	SLC4A8_ENST00000358657.3_Missense_Mutation_p.G524E|SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000394856.1_Missense_Mutation_p.G444E|SLC4A8_ENST00000535225.2_Missense_Mutation_p.G444E|SLC4A8_ENST00000514353.3_Missense_Mutation_p.G444E	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	497					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		ATCACCTTTGGGGGACTGCTT	0.502000													29	75					0	0	0.0024448	0	0
TTN	7273	broad.mit.edu	37	2	179600731	179600731	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179600731G>A	ENST00000589042.1	-	50	14666	c.14442C>T	c.(14440-14442)ttC>ttT	p.F4814F	TTN_ENST00000591111.1_Silent_p.F4497F|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.F3570F|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4497	Ig-like 28.						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)			CTGTGCAGATGAACTTGGCTG	0.458000													23	50					0	0	0.000586117	0	0
SLC22A25	387601	broad.mit.edu	37	11	62932071	62932071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:62932071C>T	ENST00000306494.6	-	8	1320	c.1321G>A	c.(1321-1323)Ggt>Agt	p.G441S	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	441					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GCTCCCACACCCAGGGTTGCC	0.478000													10	16					0	0	0.000673444	0	0
WDR78	79819	broad.mit.edu	37	1	67340619	67340619	+	Splice_Site	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:67340619A>T	ENST00000371026.3	-	5	700	c.643_splice	c.e5-1	p.D215_splice	WDR78_ENST00000371023.3_Splice_Site_p.D215_splice|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371022.3_Splice_Site_p.D215_splice	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	215										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TAACTTGCAAATCTAAAATAC	0.294000													11	18					0	0	0.00244969	0	0
KATNAL2	83473	broad.mit.edu	37	18	44627357	44627357	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:44627357G>A	ENST00000245121.5	+	15	1576	c.1382G>A	c.(1381-1383)aGa>aAa	p.R461K	KATNAL2_ENST00000356157.7_Missense_Mutation_p.R533K	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	533						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GACTGGCAAAGAGAGTTCGAG	0.468000											OREG0024959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	30					0	0	0.00188189	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558876	113558876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:113558876G>A	ENST00000284601.3	-	1	244	c.176C>T	c.(175-177)tCa>tTa	p.S59L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	59					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCTAGTACCTGAAGATGGGGT	0.403000													29	20					0	0	0.000878237	0	0
ALPK2	115701	broad.mit.edu	37	18	56205220	56205220	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:56205220G>A	ENST00000361673.3	-	5	2412	c.2199C>T	c.(2197-2199)ttC>ttT	p.F733F	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	733							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGTCTTCCCTGAAATTGTCAG	0.468000													79	135					0	0	0.000781405	0	0
ZNF423	23090	broad.mit.edu	37	16	49671905	49671905	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:49671905G>A	ENST00000561648.1	-	4	1211	c.1158C>T	c.(1156-1158)tcC>tcT	p.S386S	ZNF423_ENST00000262383.2_Silent_p.S386S|ZNF423_ENST00000567169.1_Silent_p.S269S|ZNF423_ENST00000562871.1_Silent_p.S326S|ZNF423_ENST00000563137.2_Silent_p.S326S|ZNF423_ENST00000535559.1_Silent_p.S269S|ZNF423_ENST00000562520.1_Silent_p.S326S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	386					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCTTCAAGGTGGAGTCCGGGG	0.637000													8	32					0	0	0.000274275	0	0
FAT2	2196	broad.mit.edu	37	5	150945775	150945775	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:150945775G>A	ENST00000261800.5	-	1	2730	c.2718C>T	c.(2716-2718)ttC>ttT	p.F906F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	906	Cadherin 7.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTGACAGAGAAGAGCTGGT	0.552000													8	28					0	0	0.000274275	0	0
C8A	731	broad.mit.edu	37	1	57347252	57347252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:57347252G>A	ENST00000361249.3	+	5	695	c.599G>A	c.(598-600)gGa>gAa	p.G200E		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	200	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTCTACTATGGAGATGATGAG	0.483000													5	31					0	0	0.00116845	0	0
DSP	1832	broad.mit.edu	37	6	7580358	7580358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:7580358C>T	ENST00000379802.3	+	23	4276	c.3935C>T	c.(3934-3936)tCc>tTc	p.S1312F	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1312	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CACAAGCAGTCCCTGGAGGAG	0.532000													97	42					0	0	0.000781405	0	0
PKHD1	5314	broad.mit.edu	37	6	51944766	51944766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:51944766C>T	ENST00000371117.3	-	5	597	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	PKHD1_ENST00000340994.4_Missense_Mutation_p.E108K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	108	IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAGTATGCTTCCAGGAAGTAC	0.468000													24	47					0	0	0.000720815	0	0
ATXN7	6314	broad.mit.edu	37	3	63973944	63973944	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:63973944C>T	ENST00000398590.3	+	9	1858	c.1305C>T	c.(1303-1305)tcC>tcT	p.S435S	ATXN7_ENST00000538065.1_Silent_p.S435S|ATXN7_ENST00000487717.1_Silent_p.S435S|ATXN7_ENST00000484332.1_Silent_p.S290S|ATXN7_ENST00000295900.6_Silent_p.S435S	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	435	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	p.S435S(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TGATTCCTTCCGAATCAAAGC	0.562000													51	106					0	0	0.000781405	0	0
DARC	2532	broad.mit.edu	37	1	159176102	159176102	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:159176102C>T	ENST00000537147.1	+	3	1716	c.873C>T	c.(871-873)gcC>gcT	p.A291A	DARC_ENST00000368122.2_Silent_p.A291A|DARC_ENST00000368121.2_Silent_p.A293A			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	291					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TGGCAGAAGCCCTGGCAATTT	0.597000													165	136					0	0	0.000781405	0	0
C16orf89	146556	broad.mit.edu	37	16	5110350	5110350	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:5110350C>T	ENST00000315997.5	-	3	647	c.446G>A	c.(445-447)gGg>gAg	p.G149E	C16orf89_ENST00000474471.3_Missense_Mutation_p.G149E|C16orf89_ENST00000422873.1_Missense_Mutation_p.G187E|C16orf89_ENST00000472572.3_Missense_Mutation_p.G149E|C16orf89_ENST00000350219.4_Missense_Mutation_p.G187E|ALG1_ENST00000588623.1_Intron	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	149						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GTCCTGGGGCCCGAACGTGGG	0.602000													13	20					0	0	0.00185496	0	0
PNPLA7	375775	broad.mit.edu	37	9	140400467	140400467	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:140400467C>T	ENST00000406427.1	-	13	1630	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N	PNPLA7_ENST00000277531.4_Missense_Mutation_p.D407N|PNPLA7_ENST00000371457.1_Missense_Mutation_p.D13N	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	407				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509).	lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	p.D407N(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGGTGCTCGTCCGAGTGCAGG	0.652000													14	19					0	0	0.00074312	0	0
GCA	25801	broad.mit.edu	37	2	163204219	163204219	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:163204219C>T	ENST00000437150.2	+	2	320	c.159C>T	c.(157-159)tcC>tcT	p.S53S	GCA_ENST00000233612.4_Silent_p.S34S|GCA_ENST00000473240.1_3'UTR|GCA_ENST00000429691.2_Silent_p.S34S	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	53	EF-hand 1.				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						CTGGTGACTCCGTGTATACTT	0.423000													11	35					0	0	0.00136819	0	0
SLC6A14	11254	broad.mit.edu	37	X	115588792	115588792	+	Silent	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:115588792A>G	ENST00000371900.4	+	13	1720	c.1632A>G	c.(1630-1632)tcA>tcG	p.S544S	SLC6A14_ENST00000463626.1_Intron	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	544					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TTATCTGGTCATTGGTGCAAT	0.368000													59	4					0	0	0.000781405	0	0
ITGB3BP	23421	broad.mit.edu	37	1	63955797	63955797	+	Silent	SNP	G	G	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:63955797G>T	ENST00000371092.3	-	4	318	c.258C>A	c.(256-258)ccC>ccA	p.P86P	ITGB3BP_ENST00000271002.10_Silent_p.P47P|ITGB3BP_ENST00000283568.8_Silent_p.P47P	NM_001206739.1	NP_001193668.1	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	47					apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						CAGAACTTGTGGGAGAAGCAA	0.338000													5	60					0.000602214	0.00220518	0.000602214	1	0
BRSK1	84446	broad.mit.edu	37	19	55816264	55816264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:55816264C>T	ENST00000309383.1	+	14	1970	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	BRSK1_ENST00000588584.1_3'UTR|BRSK1_ENST00000326848.7_Missense_Mutation_p.R260C|BRSK1_ENST00000590333.1_Missense_Mutation_p.R581C	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	565					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GGGCTCCCCTCGCTTTCACCG	0.647000													8	41					0	0	0.000442599	0	0
DNAJC25	548645	broad.mit.edu	37	9	114411979	114411979	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:114411979C>T	ENST00000313525.3	+	3	792	c.736C>T	c.(736-738)Ctg>Ttg	p.L246L	DNAJC25_ENST00000556107.1_Intron|DNAJC25-GNG10_ENST00000374294.3_Intron	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	246					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						TGATCTTCTCCTGTTTCAAAT	0.343000													17	54					0	0	0.000422831	0	0
BRDT	676	broad.mit.edu	37	1	92441903	92441903	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:92441903G>A	ENST00000370389.2	+	5	1231	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	BRDT_ENST00000399546.2_Missense_Mutation_p.E176K|BRDT_ENST00000362005.3_Missense_Mutation_p.E176K|BRDT_ENST00000402388.1_Missense_Mutation_p.E176K|BRDT_ENST00000394530.3_Missense_Mutation_p.E130K	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	176	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.E176*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TAAGCAGCAAGAAATTCCTTC	0.413000													21	41					0	0	0.00188189	0	0
KCNK5	8645	broad.mit.edu	37	6	39158950	39158950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:39158950C>T	ENST00000359534.3	-	5	1554	c.1216G>A	c.(1216-1218)Gac>Aac	p.D406N		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	406					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TCCTGGGCGTCCCATGGCTCG	0.627000													16	41					0	0	0.00074312	0	0
CNGB3	54714	broad.mit.edu	37	8	87738832	87738832	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:87738832G>A	ENST00000320005.5	-	3	312	c.265C>T	c.(265-267)Caa>Taa	p.Q89*	RP11-386D6.1_ENST00000519041.1_RNA|CNGB3_ENST00000519777.1_5'UTR	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	89					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GCTGCATTTTGAGGGTCAGGG	0.413000													58	166					0	0	0.000781405	0	0
GCSAML	148823	broad.mit.edu	37	1	247712456	247712456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:247712456G>A	ENST00000366490.3	+	4	483	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366488.4_5'UTR|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000536561.1_5'UTR|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000463359.1_Intron					germinal center-associated, signaling and motility-like																		CAAGTGGAGTGAAACTCAGGA	0.512000													36	26					0	0	0.00111076	0	0
SHANK2	22941	broad.mit.edu	37	11	70506017	70506017	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:70506017G>A	ENST00000338508.4	-	23	1979	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	SHANK2_ENST00000409530.1_Silent_p.F70F|SHANK2_ENST00000357171.3_Silent_p.F71F|SHANK2_ENST00000423696.2_Silent_p.F280F|SHANK2_ENST00000409161.1_Silent_p.F70F|SHANK2_ENST00000449833.2_Silent_p.F71F|SHANK2_ENST00000449116.2_Silent_p.F71F			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	280					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTAGGGCTGGGAAAGCCGGTG	0.552000													18	15					0	0	0.000958276	0	0
SYT1	6857	broad.mit.edu	37	12	79693175	79693175	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:79693175G>A	ENST00000261205.4	+	8	1311	c.654G>A	c.(652-654)tcG>tcA	p.S218S	SYT1_ENST00000393240.3_Silent_p.S218S|SYT1_ENST00000552744.1_Silent_p.S218S|SYT1_ENST00000457153.2_Silent_p.S215S	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	218	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TACCATACTCGGAATTGGGTG	0.348000													20	45					0	0	0.00278032	0	0
IGHM	3507	broad.mit.edu	37	14	106320691	106320691	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:106320691G>A	ENST00000390559.2	-	0	1118																											ACTTCTCCGGGGACAAGGGCT	0.647000													6	23					0	0	0.00116845	0	0
OR52E2	119678	broad.mit.edu	37	11	5080082	5080082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:5080082G>A	ENST00000321522.2	-	1	775	c.776C>T	c.(775-777)tCc>tTc	p.S259F		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGTCATAAAGGAAAAGAGGGC	0.473000													24	21					0	0	0.00047179	0	0
TLN1	7094	broad.mit.edu	37	9	35719223	35719223	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:35719223A>G	ENST00000314888.9	-	16	2097	c.1744T>C	c.(1744-1746)Tcc>Ccc	p.S582P	TLN1_ENST00000540444.1_Missense_Mutation_p.S582P	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	582					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTCAGGTTGGAGGAGATTGTG	0.607000													18	11					0	0	0.00152264	0	0
GABRG3	2567	broad.mit.edu	37	15	27271920	27271920	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:27271920C>G	ENST00000333743.6	+	3	476	c.222C>G	c.(220-222)gaC>gaG	p.D74E	GABRG3_ENST00000555083.1_Missense_Mutation_p.D74E	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	74					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)		CCGTAATTGACGTTGACATTT	0.393000													9	32					0	0	0.000442599	0	0
SCAND3	114821	broad.mit.edu	37	6	28540556	28540556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:28540556C>T	ENST00000452236.2	-	4	3727	c.3110G>A	c.(3109-3111)aGa>aAa	p.R1037K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1037					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						agagaataatcttgaattcaa	0.303000													11	18					0	0	0.000978159	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840728	1840728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:1840728G>A	ENST00000331238.5	-	2	406	c.388C>T	c.(388-390)Ctc>Ttc	p.L130F		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	130					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TAGAGGTAGAGGGCGTGAAGC	0.652000													18	32					0	0	0.000958276	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746589	77746589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:77746589G>A	ENST00000409088.3	-	3	820	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	LRRTM4_ENST00000409282.1_Missense_Mutation_p.R137C|LRRTM4_ENST00000409911.1_Missense_Mutation_p.R137C|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R136C|LRRTM4_ENST00000409093.1_Missense_Mutation_p.R136C	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	136						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TCCAGATTGCGGAGATTGGGA	0.383000													9	35					0	0	0.000978159	0	0
KCNK16	83795	broad.mit.edu	37	6	39284208	39284208	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:39284208G>A	ENST00000373229.5	-	5	685	c.672C>T	c.(670-672)ccC>ccT	p.P224P	KCNK16_ENST00000425054.2_Intron|KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000373227.4_Intron|KCNK16_ENST00000437525.2_Silent_p.P224P	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	224						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						AATGCTTGCTGGGGTCTGTGC	0.617000													4	13					0	0	0.00024832	0	0
PCDHA11	56138	broad.mit.edu	37	5	140248820	140248820	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140248820C>T	ENST00000398640.2	+	1	132	c.132C>T	c.(130-132)ttC>ttT	p.F44F	PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCACCTTCGTGGGCCGCA	0.652000													40	70					0	0	0.00195071	0	0
KIAA2026	158358	broad.mit.edu	37	9	5924691	5924691	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:5924691G>A	ENST00000399933.3	-	7	2652	c.2653C>T	c.(2653-2655)Ctg>Ttg	p.L885L	KIAA2026_ENST00000381461.2_Silent_p.L855L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	885										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AGGATATCCAGAGGTTCTGTT	0.368000													34	7					0	0	0.000814825	0	0
LRTM1	57408	broad.mit.edu	37	3	54958920	54958920	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:54958920G>A	ENST00000273286.5	-	2	492	c.330C>T	c.(328-330)ctC>ctT	p.L110L	LRTM1_ENST00000493075.1_Silent_p.L34L|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	110						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CCAGGGAAAGGAGTGAATTCT	0.468000													39	13					0	0	0.00148497	0	0
CSF2RB	1439	broad.mit.edu	37	22	37333557	37333557	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:37333557C>T	ENST00000262825.5	+	14	1942	c.1725C>T	c.(1723-1725)ccC>ccT	p.P575P	CSF2RB_ENST00000403662.3_Silent_p.P569P|CSF2RB_ENST00000406230.1_Silent_p.P575P|CSF2RB_ENST00000536485.1_Silent_p.P516P	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	569					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCCCCAGCCCCCAGCCAGGCC	0.642000													17	52					0	0	0.00229938	0	0
DLG2	1740	broad.mit.edu	37	11	83344302	83344302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:83344302G>A	ENST00000398309.2	-	14	2047	c.1577C>T	c.(1576-1578)tCc>tTc	p.S526F	DLG2_ENST00000537455.1_Missense_Mutation_p.S280F|DLG2_ENST00000531015.1_Missense_Mutation_p.S493F|DLG2_ENST00000426717.2_Missense_Mutation_p.S8F|DLG2_ENST00000398304.1_Missense_Mutation_p.S8F|DLG2_ENST00000524982.1_Missense_Mutation_p.S526F|DLG2_ENST00000404783.3_Missense_Mutation_p.S8F|DLG2_ENST00000376106.3_Missense_Mutation_p.S8F|DLG2_ENST00000530800.1_Missense_Mutation_p.S35F|DLG2_ENST00000543673.1_Missense_Mutation_p.S631F|DLG2_ENST00000418306.2_Missense_Mutation_p.S423F|DLG2_ENST00000532653.1_Missense_Mutation_p.S526F|DLG2_ENST00000280241.8_Missense_Mutation_p.S565F|DLG2_ENST00000376104.2_Missense_Mutation_p.S631F|DLG2_ENST00000330014.6_Missense_Mutation_p.S465F	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	526						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCCGGACCCGGAGCTCATGCT	0.473000													7	13					0	0	0.000442599	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136320464	136320464	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:136320464C>T	ENST00000371929.3	+	25	3751	c.3307C>T	c.(3307-3309)Cag>Tag	p.Q1103*	ADAMTS13_ENST00000356589.2_Nonsense_Mutation_p.Q1072*|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Nonsense_Mutation_p.Q1103*|ADAMTS13_ENST00000485925.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1103	TSP type-1 8.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCTCGGACCCCAGGCCCAGGC	0.667000													41	148					0	0	0.00285205	0	0
PTPRH	5794	broad.mit.edu	37	19	55708578	55708578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:55708578C>T	ENST00000376350.3	-	9	1919	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	PTPRH_ENST00000263434.5_Missense_Mutation_p.E455K|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	633	Fibronectin type-III 7.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TCCAGGGCCTCCACTTTGTAC	0.587000													19	63					0	0	0.000958276	0	0
KHDC3L	154288	broad.mit.edu	37	6	74073307	74073307	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:74073307C>T	ENST00000370367.3	+	3	431	c.378C>T	c.(376-378)gtC>gtT	p.V126V		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member																		CCCAGGATGTCGCCACTCAGA	0.617000													17	16					0	0	0.00074312	0	0
ADNP2	22850	broad.mit.edu	37	18	77895177	77895177	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:77895177C>T	ENST00000262198.4	+	4	2336	c.1881C>T	c.(1879-1881)ccC>ccT	p.P627P		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	627					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TGCCGGTTCCCCCTGGAGGCC	0.617000													12	48					0	0	0.00136819	0	0
GTF2E1	2960	broad.mit.edu	37	3	120495420	120495420	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:120495420C>T	ENST00000283875.5	+	4	894	c.801C>T	c.(799-801)gcC>gcT	p.A267A		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	267					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		TTCATCGAGCCTCACTGGAAG	0.453000													15	45					0	0	0.000308642	0	0
ATP13A1	57130	broad.mit.edu	37	19	19757947	19757947	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:19757947G>A	ENST00000357324.6	-	22	3122	c.3096C>T	c.(3094-3096)tcC>tcT	p.S1032S	ATP13A1_ENST00000291503.5_Silent_p.S914S	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	1032					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCTTGGAACGGGAGATGAAGA	0.612000													14	62					0	0	0.000308642	0	0
CAPN6	827	broad.mit.edu	37	X	110494210	110494210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:110494210C>T	ENST00000324068.1	-	8	1260	c.1093G>A	c.(1093-1095)Gat>Aat	p.D365N	CAPN6_ENST00000541758.1_Missense_Mutation_p.D110N	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	365	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ATCAGGGGATCATCATCCACA	0.473000													86	92					0	0	0.000781405	0	0
KRT6A	3853	broad.mit.edu	37	12	52881884	52881884	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:52881884C>T	ENST00000330722.6	-	8	1496	c.1428G>A	c.(1426-1428)ctG>ctA	p.L476L		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	476	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTTCGCCATTCAGCCTGTGGA	0.582000													17	35					0	0	0.00188189	0	0
CACNA1S	779	broad.mit.edu	37	1	201043666	201043666	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:201043666C>T	ENST00000362061.3	-	14	2257	c.2031G>A	c.(2029-2031)aaG>aaA	p.K677K	CACNA1S_ENST00000367338.3_Silent_p.K677K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	677					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCTCCTCAGCCTTGGCCTTCT	0.572000													8	39					0	0	0.000157383	0	0
MAP3K11	4296	broad.mit.edu	37	11	65367011	65367011	+	Missense_Mutation	SNP	G	G	A	rs113014372		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:65367011G>A	ENST00000309100.3	-	9	2545	c.2060C>T	c.(2059-2061)cCg>cTg	p.P687L	MAP3K11_ENST00000530153.1_Missense_Mutation_p.P430L|MAP3K11_ENST00000532507.1_Missense_Mutation_p.P103L|MAP3K11_ENST00000534432.1_5'UTR	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	687	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CGGCTCGGTCGGGCAGGGCGC	0.736000													23	19					0	0	0.000878237	0	0
ABCA13	154664	broad.mit.edu	37	7	48314904	48314904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:48314904G>A	ENST00000435803.1	+	17	5665	c.5641G>A	c.(5641-5643)Gaa>Aaa	p.E1881K		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1881					transport	integral to membrane	ATP binding|ATPase activity	p.E1826Q(1)|p.E1881Q(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTCCCGAATGGAAATAACTAG	0.403000													11	94					0	0	0.000978159	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221000	140221000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140221000C>T	ENST00000531613.1	+	1	94	c.94C>T	c.(94-96)Cac>Tac	p.H32Y	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.H32Y|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCCAGCTCCACTACTCCGT	0.642000													18	43					0	0	0.000566183	0	0
BPIFB3	359710	broad.mit.edu	37	20	31660574	31660574	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:31660574C>T	ENST00000375494.3	+	14	1376	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	459					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										ATCAATTTTTCCAATTCAGTT	0.463000													19	69					0	0	0.00047179	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74636998	74636998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:74636998C>T	ENST00000541184.1	-	9	1341	c.864G>A	c.(862-864)atG>atA	p.M288I	ZDHHC15_ENST00000373367.3_Missense_Mutation_p.M297I|ZDHHC15_ENST00000373361.3_3'UTR	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	297						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						TCATAGACCTCATAGGGAAGG	0.443000													40	35					0	0	0.00148497	0	0
GABRA6	2559	broad.mit.edu	37	5	161113235	161113235	+	Splice_Site	SNP	G	G	A	rs140035570		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:161113235G>A	ENST00000523217.1	+	2	280		c.e2-1		GABRA6_ENST00000274545.5_Splice_Site|GABRA6_ENST00000522269.1_Splice_Site	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6						gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTACACACAGGCTAGAAAAT	0.448000										TCGA Ovarian(5;0.080)			16	29					0	0	0.000566183	0	0
HEATR2	54919	broad.mit.edu	37	7	813754	813754	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:813754G>A	ENST00000297440.6	+	10	2021	c.2001G>A	c.(1999-2001)ggG>ggA	p.G667G	HEATR2_ENST00000313147.5_Silent_p.G667G|HEATR2_ENST00000403952.3_Silent_p.G92G	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	667							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GGCATGCGGGGAGGACAGCCG	0.667000													43	61					0	0	0.000680045	0	0
DSE	29940	broad.mit.edu	37	6	116757959	116757959	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:116757959C>T	ENST00000331677.3	+	7	2772	c.2328C>T	c.(2326-2328)cgC>cgT	p.R776R	DSE_ENST00000359564.2_Silent_p.R776R|DSE_ENST00000452085.3_Silent_p.R776R|DSE_ENST00000537543.1_Silent_p.R795R			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	776					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	p.R776R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CTGCTGAACGCCTGCTGAGAT	0.463000													5	23					0	0	0.000602214	0	0
DPPA4	55211	broad.mit.edu	37	3	109050814	109050814	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:109050814G>A	ENST00000335658.6	-	3	297	c.243C>T	c.(241-243)atC>atT	p.I81I	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	81						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GTAATGGAGGGATTGGTATCT	0.478000													31	69					0	0	0.00283554	0	0
MACF1	23499	broad.mit.edu	37	1	39549961	39549961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:39549961G>A	ENST00000567887.1	+	1	228	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	MACF1_ENST00000545844.1_Missense_Mutation_p.R24Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R24Q|MACF1_ENST00000372915.3_Missense_Mutation_p.R24Q|MACF1_ENST00000602421.1_Missense_Mutation_p.R24Q|MACF1_ENST00000539005.1_Missense_Mutation_p.R24Q|MACF1_ENST00000484793.1_Missense_Mutation_p.R24Q|MACF1_ENST00000361689.2_Missense_Mutation_p.R24Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	24	Actin-binding.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CGGAGTGAGCGATCTTACAGG	0.627000													20	73					0	0	0.00229938	0	0
COL17A1	1308	broad.mit.edu	37	10	105800155	105800155	+	Silent	SNP	G	G	A	rs139467442	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:105800155G>A	ENST00000353479.5	-	40	3005	c.2715C>T	c.(2713-2715)tcC>tcT	p.S905S	COL17A1_ENST00000369733.3_Silent_p.S905S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	905	Triple-helical region.			S -> F (in Ref. 1; AAA35605 and 2; AAB51499).	cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CTGGGGGGCCGGAGAGGAAGG	0.532000													40	49					0	0	0.0025221	0	0
OR5L1	219437	broad.mit.edu	37	11	55579002	55579002	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:55579002C>T	ENST00000333973.2	+	1	149	c.60C>T	c.(58-60)gtC>gtT	p.V20V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TATCAGATGTCCCTGAGTTGA	0.458000													53	54					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9085456	9085456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9085456G>A	ENST00000397910.4	-	1	6562	c.6359C>T	c.(6358-6360)aCt>aTt	p.T2120I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2120	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTGTTCAAAGTACTCGCGGC	0.488000													83	72					0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13769624	13769624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:13769624C>T	ENST00000265104.4	-	57	9810	c.9706G>A	c.(9706-9708)Gat>Aat	p.D3236N	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3236	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGGCTTTATCGTTGGCCACT	0.418000									Kartagener syndrome				20	48					0	0	0.00278032	0	0
SCRN2	90507	broad.mit.edu	37	17	45915985	45915985	+	Missense_Mutation	SNP	G	G	A	rs142383711	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:45915985G>A	ENST00000407215.3	-	6	931	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	SCRN2_ENST00000290216.9_Missense_Mutation_p.R284C|SCRN2_ENST00000584123.1_Missense_Mutation_p.R292C			Q96FV2	SCRN2_HUMAN	secernin 2	284					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GCCGTGGTGCGAAAGCCTCCC	0.607000													17	44					0	0	0.00121646	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834414	101834414	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:101834414C>T	ENST00000506729.1	-	1	306	c.135G>A	c.(133-135)ggG>ggA	p.G45G	SLCO6A1_ENST00000379807.3_Silent_p.G45G|SLCO6A1_ENST00000513675.1_Silent_p.G45G|SLCO6A1_ENST00000389019.3_Silent_p.G45G|SLCO6A1_ENST00000379810.1_Silent_p.G45G			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	45						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GGTGTTTTTTCCCGGGCTTCG	0.572000													72	137					0	0	0.000781405	0	0
DENND1B	163486	broad.mit.edu	37	1	197704718	197704718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:197704718G>A	ENST00000235453.4	-	3	327	c.50C>T	c.(49-51)tCg>tTg	p.S17L	DENND1B_ENST00000400967.2_Missense_Mutation_p.S17L|DENND1B_ENST00000367396.3_Intron			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	0						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						GGTATTACTCGAAAATACAGG	0.433000													8	55					0	0	0.000442599	0	0
TNXB	7148	broad.mit.edu	37	6	32038147	32038147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:32038147C>T	ENST00000375244.3	-	14	5236	c.5035G>A	c.(5035-5037)Gag>Aag	p.E1679K	TNXB_ENST00000375247.2_Missense_Mutation_p.E1679K			P22105	TENX_HUMAN	tenascin XB	1761	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACCCACAGCTCCCCAAGGCGG	0.582000													47	50					0	0	0.000781405	0	0
UNC45A	55898	broad.mit.edu	37	15	91491904	91491904	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:91491904C>T	ENST00000394275.2	+	16	2548	c.1713C>T	c.(1711-1713)ctC>ctT	p.L571L	UNC45A_ENST00000418476.2_Silent_p.L586L	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	586					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGTCAGTGCTCTTTGCGGTGG	0.597000													150	117					0	0	0.000781405	0	0
KMT2D	8085	broad.mit.edu	37	12	49432453	49432453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:49432453G>A	ENST00000301067.7	-	34	8685	c.8686C>T	c.(8686-8688)Cct>Tct	p.P2896S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCCTGACCAGGAAACGGAGTG	0.622000													10	16					0	0	0.000442599	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698552	96698552	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:96698552T>C	ENST00000260682.6	+	1	125	c.113T>C	c.(112-114)gTg>gCg	p.V38A	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	38					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CCTCTCCCAGTGATTGGAAAT	0.463000													26	27					0	0	0.000878237	0	0
TAGAP	117289	broad.mit.edu	37	6	159459245	159459245	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:159459245C>T	ENST00000367066.3	-	9	1130	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.E89K	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	267	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ATGAGGAATTCCACCAGTGTC	0.403000													26	29					0	0	0.000878237	0	0
RXFP1	59350	broad.mit.edu	37	4	159529150	159529150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:159529150C>T	ENST00000307765.5	+	6	742	c.491C>T	c.(490-492)tCc>tTc	p.S164F	RXFP1_ENST00000470033.1_Missense_Mutation_p.S131F|RXFP1_ENST00000343542.5_Missense_Mutation_p.S164F|RXFP1_ENST00000448688.2_Missense_Mutation_p.S83F|RXFP1_ENST00000460056.2_Missense_Mutation_p.S83F|RXFP1_ENST00000423548.1_Missense_Mutation_p.S164F	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	164						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AAGATTACATCCATCTCCATC	0.353000													34	26					0	0	0.000814825	0	0
CLC	1178	broad.mit.edu	37	19	40228602	40228602	+	Translation_Start_Site	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:40228602C>A	ENST00000221804.4	-	0	66					NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin						lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		TTGTTGTCTCCTTCTGGGTGG	0.463000													37	158					1.76056e-25	6.52865e-25	0.00285205	1	0
NFATC4	4776	broad.mit.edu	37	14	24839499	24839499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:24839499C>T	ENST00000413692.2	+	3	1228	c.1084C>T	c.(1084-1086)Cca>Tca	p.P362S	NFATC4_ENST00000553879.1_Missense_Mutation_p.P229S|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000553469.1_Missense_Mutation_p.P331S|NFATC4_ENST00000539237.2_Missense_Mutation_p.P331S|NFATC4_ENST00000554050.1_Missense_Mutation_p.P299S|NFATC4_ENST00000553708.1_Missense_Mutation_p.P299S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P312S|NFATC4_ENST00000554966.1_Missense_Mutation_p.P312S|NFATC4_ENST00000424781.2_Missense_Mutation_p.P312S|NFATC4_ENST00000554591.1_Missense_Mutation_p.P362S|NFATC4_ENST00000557451.1_Missense_Mutation_p.P229S|NFATC4_ENST00000555453.1_Missense_Mutation_p.P287S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P331S|NFATC4_ENST00000554344.1_Missense_Mutation_p.P229S|NFATC4_ENST00000422617.3_Missense_Mutation_p.P287S|NFATC4_ENST00000250373.4_Missense_Mutation_p.P299S|NFATC4_ENST00000554661.1_Missense_Mutation_p.P229S|NFATC4_ENST00000556169.1_Missense_Mutation_p.P287S	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	299					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TGAGCCACCTCCACCACCCCC	0.672000													16	7					0	0	0.000422831	0	0
CYP4F12	66002	broad.mit.edu	37	19	15784509	15784509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:15784509G>A	ENST00000550308.1	+	2	550	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	CYP4F12_ENST00000324632.9_Missense_Mutation_p.R57Q	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCCCCAAAACGGAACTGGTTT	0.587000													31	77					0	0	0.00178596	0	0
BHLHE22	27319	broad.mit.edu	37	8	65493401	65493401	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:65493401C>T	ENST00000321870.1	+	1	588	c.54C>T	c.(52-54)ttC>ttT	p.F18F	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						ACGACCTCTTCCTGCACAAGA	0.771000													9	6					0	0	0.000673444	0	0
ASAP2	8853	broad.mit.edu	37	2	9474912	9474912	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:9474912C>T	ENST00000281419.3	+	8	1072	c.732C>T	c.(730-732)tcC>tcT	p.S244S	ASAP2_ENST00000315273.4_Silent_p.S244S	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	244					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TCAAACCTTCCATTGAAACGC	0.393000													26	80					0	0	0.00209593	0	0
PRDM10	56980	broad.mit.edu	37	11	129814708	129814708	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:129814708G>A	ENST00000358825.5	-	6	951	c.720C>T	c.(718-720)ctC>ctT	p.L240L	PRDM10_ENST00000423662.2_Silent_p.L154L|PRDM10_ENST00000360871.3_Silent_p.L240L|PRDM10_ENST00000528746.1_Silent_p.L214L|PRDM10_ENST00000304538.6_Silent_p.L154L|PRDM10_ENST00000526082.1_Silent_p.L154L	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	240	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		AGCCCCTGACGAGAGGCCCCT	0.562000													23	40					0	0	0.00047179	0	0
OSBP2	23762	broad.mit.edu	37	22	31286918	31286918	+	Silent	SNP	G	G	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:31286918G>C	ENST00000332585.6	+	8	1931	c.1827G>C	c.(1825-1827)ctG>ctC	p.L609L	OSBP2_ENST00000437268.2_Silent_p.L351L|OSBP2_ENST00000401475.1_Silent_p.L242L|OSBP2_ENST00000407373.1_Silent_p.L436L|OSBP2_ENST00000446658.2_Silent_p.L608L|OSBP2_ENST00000403222.3_Silent_p.L443L|OSBP2_ENST00000535268.1_Silent_p.L153L|OSBP2_ENST00000382310.3_Silent_p.L560L	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	609					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CCTTCGAGCTGGACCGCCTCG	0.657000											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	120					0	0	0.000673444	0	0
ZBP1	81030	broad.mit.edu	37	20	56189956	56189956	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:56189956C>T	ENST00000340462.4	-	3	700	c.420G>A	c.(418-420)acG>acA	p.T140T	ZBP1_ENST00000343535.4_Silent_p.T163T|ZBP1_ENST00000395822.3_Silent_p.T88T|ZBP1_ENST00000541799.1_Silent_p.T163T|ZBP1_ENST00000371173.3_Silent_p.T163T			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	163						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GGCGGTAAATCGTCCATGCTT	0.552000													111	46					0	0	0.000781405	0	0
SLC5A11	115584	broad.mit.edu	37	16	24909297	24909297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:24909297G>A	ENST00000449109.2	+	9	759	c.475G>A	c.(475-477)Gat>Aat	p.D159N	SLC5A11_ENST00000347898.3_Silent_p.V291V|SLC5A11_ENST00000567758.1_Silent_p.V256V|SLC5A11_ENST00000424767.2_Silent_p.V256V|SLC5A11_ENST00000565769.1_Silent_p.V227V|SLC5A11_ENST00000568579.1_Silent_p.V221V|SLC5A11_ENST00000539472.1_Silent_p.V227V|SLC5A11_ENST00000545376.1_Silent_p.V221V|SLC5A11_ENST00000569071.1_Missense_Mutation_p.D159N	NM_001258414.1	NP_001245343.1	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	336					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TTTTCCAGGTGATTGTCCAGC	0.502000													50	132					0	0	0.000781405	0	0
FBRS	64319	broad.mit.edu	37	16	30680789	30680789	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:30680789C>T	ENST00000356166.6	+	18	3854	c.2766C>T	c.(2764-2766)caC>caT	p.H922H	FBRS_ENST00000395073.2_Silent_p.H314H|FBRS_ENST00000287468.5_Silent_p.H402H|FBRS_ENST00000568722.1_Silent_p.H314H			Q9HAH7	FBRS_HUMAN	fibrosin	402										ovary(1)	1			Colorectal(24;0.103)			AACCTGCTCACCCCTTGCTCT	0.687000													35	119					0	0	0.00128727	0	0
GPR35	2859	broad.mit.edu	37	2	241569594	241569594	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:241569594C>T	ENST00000319838.5	+	6	1167	c.225C>T	c.(223-225)ttC>ttT	p.F75F	GPR35_ENST00000438013.2_Silent_p.F106F|GPR35_ENST00000430267.1_Silent_p.F75F|GPR35_ENST00000407714.1_Silent_p.F75F|GPR35_ENST00000403859.1_Silent_p.F75F	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	75						integral to plasma membrane	G-protein coupled receptor activity	p.F75F(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CCTTGCCCTTCGTGCTGCACT	0.627000													32	41					0	0	0.000692331	0	0
XPO6	23214	broad.mit.edu	37	16	28167786	28167786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:28167786G>A	ENST00000304658.5	-	7	1206	c.706C>T	c.(706-708)Ccc>Tcc	p.P236S	XPO6_ENST00000565698.1_Missense_Mutation_p.P222S	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	236					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TCAAGGATGGGAATTGGCTGA	0.473000													29	62					0	0	0.0024448	0	0
SYNJ1	8867	broad.mit.edu	37	21	34053931	34053931	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:34053931C>T	ENST00000382499.2	-	11	1344	c.1345G>A	c.(1345-1347)Ggt>Agt	p.G449S	SYNJ1_ENST00000322229.7_Missense_Mutation_p.G410S|SYNJ1_ENST00000433931.2_Missense_Mutation_p.G449S|SYNJ1_ENST00000382491.3_Missense_Mutation_p.G410S|SYNJ1_ENST00000357345.3_Missense_Mutation_p.G410S	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	410							inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TCAGCTAAACCAAGAGCTTCC	0.343000													15	52					0	0	0.000308642	0	0
COL3A1	1281	broad.mit.edu	37	2	189859048	189859048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:189859048G>A	ENST00000304636.3	+	18	1453	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q	COL3A1_ENST00000317840.5_Missense_Mutation_p.R428Q	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	428	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCTGGACTGCGAGGTGGTGCA	0.488000													19	67					0	0	0.00121646	0	0
TYK2	7297	broad.mit.edu	37	19	10467345	10467345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:10467345G>A	ENST00000525621.1	-	18	2997	c.2516C>T	c.(2515-2517)cCa>cTa	p.P839L	TYK2_ENST00000524462.1_Missense_Mutation_p.P654L|TYK2_ENST00000264818.6_Missense_Mutation_p.P839L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	839	Protein kinase 1.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GGCCAGCTGTGGGCAGGAGGG	0.637000													4	15					0	0	0.000602214	0	0
APOB	338	broad.mit.edu	37	2	21233907	21233907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:21233907C>T	ENST00000233242.1	-	26	5960	c.5833G>A	c.(5833-5835)Gat>Aat	p.D1945N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1945					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCTTTGTAATCATGAGAGAAA	0.468000													134	363					0	0	0.000781405	0	0
IGSF21	84966	broad.mit.edu	37	1	18692034	18692034	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:18692034C>T	ENST00000251296.1	+	6	1241	c.858C>T	c.(856-858)ttC>ttT	p.F286F		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	286						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CCACCTACTTCCTGCGCCACA	0.622000													55	87					0	0	0.000781405	0	0
XKR7	343702	broad.mit.edu	37	20	30585110	30585110	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:30585110G>A	ENST00000217299.3	+	3	1764	c.1590G>A	c.(1588-1590)aaG>aaA	p.K530K		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	530						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGCCTCGCAAGAAGTACCCGG	0.637000													84	29					0	0	0.000781405	0	0
LAMA1	284217	broad.mit.edu	37	18	7009357	7009357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:7009357C>T	ENST00000389658.3	-	27	3975	c.3882G>A	c.(3880-3882)tgG>tgA	p.W1294*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1294	Laminin IV type A 2.				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			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)	TAAAATATTTCCAAAAATTCT	0.343000													23	59					0	0	0.00188189	0	0
SOHLH1	402381	broad.mit.edu	37	9	138590849	138590849	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:138590849C>T	ENST00000298466.5	-	2	249	c.189G>A	c.(187-189)agG>agA	p.R63R	SOHLH1_ENST00000425225.1_Silent_p.R63R	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	63					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		ACCTGCGCTCCCTCTCGCTGA	0.697000													32	43					0	0	0.00058488	0	0
PGK2	5232	broad.mit.edu	37	6	49753833	49753833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:49753833C>T	ENST00000304801.3	-	1	1220	c.1068G>A	c.(1066-1068)atG>atA	p.M356I		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	356					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CAATTTCATCCATGAGGGCTT	0.463000													18	25					0	0	0.00121646	0	0
DSC2	1824	broad.mit.edu	37	18	28671000	28671000	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:28671000G>A	ENST00000280904.6	-	4	908	c.465C>T	c.(463-465)ttC>ttT	p.F155F	DSC2_ENST00000251081.6_Silent_p.F155F	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	155	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CCTGTTGAAGGAAAAGTGGAA	0.398000													10	26					0	0	0.000442599	0	0
FANCI	55215	broad.mit.edu	37	15	89811691	89811691	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:89811691C>T	ENST00000310775.7	+	10	903	c.817C>T	c.(817-819)Cta>Tta	p.L273L	FANCI_ENST00000300027.8_Silent_p.L273L	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	273					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CACCATTATTCTACACATTGT	0.408000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				27	83					0	0	0.001512	0	0
LONP2	83752	broad.mit.edu	37	16	48290548	48290548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:48290548C>T	ENST00000285737.4	+	3	589	c.496C>T	c.(496-498)Cct>Tct	p.P166S	LONP2_ENST00000535754.1_Intron	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	166	Lon.				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TATGTCTGTCCCTGCAGTTGC	0.348000													24	76					0	0	0.00047179	0	0
SLIT3	6586	broad.mit.edu	37	5	168620526	168620526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:168620526G>A	ENST00000519560.1	-	4	789	c.370C>T	c.(370-372)Ctt>Ttt	p.L124F	SLIT3_ENST00000521130.1_5'UTR|SLIT3_ENST00000404867.3_Missense_Mutation_p.L124F|SLIT3_ENST00000332966.8_Missense_Mutation_p.L124F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	124					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATTCTGGAAGGACTTGCAGC	0.473000													49	38					0	0	0.000781405	0	0
CNDP1	84735	broad.mit.edu	37	18	72228244	72228244	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:72228244G>A	ENST00000582365.1	+	3	394	c.328G>A	c.(328-330)Gag>Aag	p.E110K	CNDP1_ENST00000358821.3_Missense_Mutation_p.E153K|CNDP1_ENST00000585136.1_Intron			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	153					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGTGCTGACGGAGGTAGACGG	0.622000													19	64					0	0	0.00152264	0	0
MMRN1	22915	broad.mit.edu	37	4	90849068	90849068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:90849068G>A	ENST00000394980.1	+	6	1397	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	MMRN1_ENST00000508372.1_Missense_Mutation_p.E102K|MMRN1_ENST00000264790.2_Missense_Mutation_p.E360K|MMRN1_ENST00000394981.1_Missense_Mutation_p.E326K			Q13201	MMRN1_HUMAN	multimerin 1	360					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTCCTCCCTAGAAGGAAAAGT	0.338000													26	64					0	0	0.000878237	0	0
LILRB5	10990	broad.mit.edu	37	19	54759232	54759232	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:54759232C>T	ENST00000450632.1	-	5	919	c.842G>A	c.(841-843)gGg>gAg	p.G281E	LILRB5_ENST00000345866.6_Missense_Mutation_p.G190E|LILRB5_ENST00000449561.2_Missense_Mutation_p.G290E|LILRB5_ENST00000316219.5_Missense_Mutation_p.G290E			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	290	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTACTGGCCCCCGTGGGAGCG	0.682000													29	40					0	0	0.00127121	0	0
RGPD4	285190	broad.mit.edu	37	2	108477284	108477284	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:108477284G>A	ENST00000408999.3	+	13	1898	c.1821G>A	c.(1819-1821)tgG>tgA	p.W607*	RGPD4_ENST00000354986.4_Nonsense_Mutation_p.W607*	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	607					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTCATTATTGGAAGAAAGTTT	0.323000													74	81					0	0	0.000781405	0	0
PAPPA	5069	broad.mit.edu	37	9	118949875	118949875	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:118949875C>T	ENST00000328252.3	+	2	1227	c.858C>T	c.(856-858)ctC>ctT	p.L286L		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	286	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGCTCCTCCTCCAGGAGAACT	0.572000													14	71					0	0	0.00185496	0	0
TKTL2	84076	broad.mit.edu	37	4	164394221	164394221	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:164394221C>T	ENST00000280605.3	-	1	826	c.666G>A	c.(664-666)gtG>gtA	p.V222V		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	222						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACAAGGCCTCCACATCATGGC	0.483000													35	68					0	0	0.00111076	0	0
FAM161A	84140	broad.mit.edu	37	2	62067001	62067001	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:62067001G>A	ENST00000404929.1	-	3	1149	c.1138C>T	c.(1138-1140)Cga>Tga	p.R380*	FAM161A_ENST00000405894.3_Nonsense_Mutation_p.R380*	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	380					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTAAGGTTTCGATAGAGCTCT	0.433000													44	48					0	0	0.00285205	0	0
CBLC	23624	broad.mit.edu	37	19	45281500	45281500	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:45281500G>T	ENST00000270279.3	+	1	375	c.312G>T	c.(310-312)agG>agT	p.R104S	CBLC_ENST00000341505.4_Missense_Mutation_p.R104S	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	104	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GGGGCCGAAGGAGTGCCAACG	0.672000			M		AML								64	118					2.6465e-34	9.82439e-34	0.000781405	1	0
OR2M5	127059	broad.mit.edu	37	1	248309366	248309366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:248309366G>A	ENST00000366476.1	+	1	917	c.917G>A	c.(916-918)gGa>gAa	p.G306E		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			AAAGTGTTAGGAAAGGGCAAG	0.438000													6	36					0	0	0.00116845	0	0
ACMSD	130013	broad.mit.edu	37	2	135621140	135621140	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:135621140A>T	ENST00000356140.5	+	5	561	c.425A>T	c.(424-426)cAa>cTa	p.Q142L	ACMSD_ENST00000392928.1_Missense_Mutation_p.Q84L|ACMSD_ENST00000283054.4_Missense_Mutation_p.Q84L|AC016725.4_ENST00000392929.2_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	142					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		CCCGGGGTCCAAATTGGCACC	0.637000													19	26					0	0	0.00188189	0	0
NT5DC3	51559	broad.mit.edu	37	12	104171831	104171831	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:104171831G>T	ENST00000392876.3	-	14	1463	c.1423C>A	c.(1423-1425)Cag>Aag	p.Q475K		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	475							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CTTCCAAACTGGGCATTGAAG	0.453000													13	37					0.00244969	0.00893603	0.00244969	1	0
ATXN7	6314	broad.mit.edu	37	3	63973943	63973943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:63973943C>T	ENST00000398590.3	+	9	1857	c.1304C>T	c.(1303-1305)tCc>tTc	p.S435F	ATXN7_ENST00000538065.1_Missense_Mutation_p.S435F|ATXN7_ENST00000487717.1_Missense_Mutation_p.S435F|ATXN7_ENST00000484332.1_Missense_Mutation_p.S290F|ATXN7_ENST00000295900.6_Missense_Mutation_p.S435F	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	435	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GTGATTCCTTCCGAATCAAAG	0.562000													50	110					0	0	0.000781405	0	0
DAPK1	1612	broad.mit.edu	37	9	90219967	90219967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:90219967G>A	ENST00000469640.2	+	3	536	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	DAPK1_ENST00000472284.1_Missense_Mutation_p.R54Q|DAPK1_ENST00000358077.5_Missense_Mutation_p.R54Q|DAPK1_ENST00000408954.3_Missense_Mutation_p.R54Q|DAPK1_ENST00000491893.1_Missense_Mutation_p.R54Q			P53355	DAPK1_HUMAN	death-associated protein kinase 1	54	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TCCAGCCGGCGGGGTGTGAGC	0.557000									Chronic Lymphocytic Leukemia, Familial Clustering of				34	27					0	0	0.0024448	0	0
ATP7B	540	broad.mit.edu	37	13	52548313	52548313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:52548313G>A	ENST00000242839.4	-	2	1199	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F	ATP7B_ENST00000448424.2_Missense_Mutation_p.S348F|ATP7B_ENST00000344297.5_Missense_Mutation_p.S348F|ATP7B_ENST00000542656.1_Missense_Mutation_p.S316F|ATP7B_ENST00000418097.2_Missense_Mutation_p.S348F|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000400370.3_Missense_Mutation_p.S348F|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	348					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TCTCGGTGGGGAGCCAGGGGA	0.532000									Wilson disease				31	33					0	0	0.0024448	0	0
ABCC11	85320	broad.mit.edu	37	16	48250034	48250034	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:48250034G>A	ENST00000394747.1	-	6	1291	c.942C>T	c.(940-942)ttC>ttT	p.F314F	ABCC11_ENST00000537808.1_Silent_p.F314F|ABCC11_ENST00000394748.1_Silent_p.F314F|ABCC11_ENST00000356608.2_Silent_p.F314F|ABCC11_ENST00000353782.5_Silent_p.F314F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	314	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CCGCCAGTGGGAAAACCAGGA	0.473000													24	83					0	0	0.000586117	0	0
TEK	7010	broad.mit.edu	37	9	27172711	27172711	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:27172711C>T	ENST00000380036.4	+	5	1168	c.726C>T	c.(724-726)tgC>tgT	p.C242C	TEK_ENST00000519097.1_Silent_p.C138C|TEK_ENST00000406359.4_Silent_p.C242C	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	242	EGF-like 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AATGCATTTGCCCTCCTGGGT	0.443000													12	10					0	0	0.00136819	0	0
FBXO36	130888	broad.mit.edu	37	2	230861576	230861576	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:230861576C>T	ENST00000373652.3	+	4	643	c.222C>T	c.(220-222)atC>atT	p.I74I	FBXO36_ENST00000409992.1_Silent_p.I85I|FBXO36_ENST00000283946.3_Silent_p.I105I			Q8NEA4	FBX36_HUMAN	F-box protein 36	105										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCCTGACTATCATTTCTTATC	0.348000													99	96					0	0	0.000781405	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717390	13717390	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:13717390C>T	ENST00000279593.3	-	13	2991	c.2782G>A	c.(2782-2784)Gag>Aag	p.E928K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	928					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACGGATGACTCCCGTCGGATG	0.572000													102	58					0	0	0.000781405	0	0
PACSIN3	29763	broad.mit.edu	37	11	47203992	47203992	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:47203992G>A	ENST00000539589.1	-	4	515	c.173C>T	c.(172-174)gCt>gTt	p.A58V	PACSIN3_ENST00000298838.6_Missense_Mutation_p.A58V	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	58	FCH.				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						GGCCCAGTCAGCCAACTGCTG	0.682000													15	19					0	0	0.000308642	0	0
CD5	921	broad.mit.edu	37	11	60889213	60889213	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:60889213G>A	ENST00000347785.3	+	6	1102	c.936G>A	c.(934-936)tgG>tgA	p.W312*		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	312	SRCR 3.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CGCTGCGGTGGGAGGAGGTGT	0.657000													11	17					0	0	0.000978159	0	0
MECP2	4204	broad.mit.edu	37	X	153296707	153296707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:153296707G>A	ENST00000303391.6	-	4	821	c.572C>T	c.(571-573)cCc>cTc	p.P191L	MECP2_ENST00000407218.1_Missense_Mutation_p.P155S|MECP2_ENST00000453960.2_Missense_Mutation_p.P203L	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	191					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCCTTTGGGGCGTCCCCG	0.612000													86	2					0	0	0.000781405	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370431	35370431	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:35370431T>G	ENST00000373347.1	-	3	822	c.554A>C	c.(553-555)cAc>cCc	p.H185P	DLGAP3_ENST00000235180.4_Missense_Mutation_p.H185P			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	185					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CTCCAGAGAGTGGGACTTGGC	0.667000													12	51					0	0	0.00244969	0	0
CPA3	1359	broad.mit.edu	37	3	148586804	148586804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:148586804G>A	ENST00000296046.3	+	3	299	c.247G>A	c.(247-249)Gat>Aat	p.D83N	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	83					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GTCTGCCTTGGATCAAAATAA	0.413000													17	30					0	0	0.00152264	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453565	84453565	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:84453565G>A	ENST00000377084.2	-	1	2963	c.2078C>T	c.(2077-2079)tCg>tTg	p.S693L		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	693						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTCTGAGAGCGAGTGAGAGCC	0.587000													11	22					0	0	0.000978159	0	0
LDLRAD1	388633	broad.mit.edu	37	1	54474787	54474787	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:54474787G>A	ENST00000371360.1	-	6	503	c.486C>T	c.(484-486)ccC>ccT	p.P162P	LDLRAD1_ENST00000545928.1_Silent_p.P119P|LDLRAD1_ENST00000420619.1_Silent_p.P123P|LDLRAD1_ENST00000371362.3_Silent_p.P73P	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	162	LDL-receptor class A 3; atypical.					integral to membrane	receptor activity			large_intestine(3)|prostate(1)|skin(3)	7						CAGGGCCGCAGGGTGGGCACA	0.582000													38	136					0	0	0.00170553	0	0
SLC38A7	55238	broad.mit.edu	37	16	58701364	58701364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:58701364G>A	ENST00000564100.1	-	8	1778	c.911C>T	c.(910-912)tCc>tTc	p.S304F	SLC38A7_ENST00000564010.1_Silent_p.V349V|SLC38A7_ENST00000570101.1_Silent_p.V438V|SLC38A7_ENST00000566953.1_5'UTR|SLC38A7_ENST00000219320.4_Silent_p.V438V			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	0					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TGACCAAGAGGACTCCGTAGC	0.532000													11	39					0	0	0.00136819	0	0
PBX1	5087	broad.mit.edu	37	1	164761828	164761828	+	Silent	SNP	G	G	A	rs147201088		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:164761828G>A	ENST00000420696.2	+	3	551	c.363G>A	c.(361-363)gaG>gaA	p.E121E	PBX1_ENST00000367897.1_Silent_p.E121E|PBX1_ENST00000560641.1_Silent_p.E16E|PBX1_ENST00000559240.1_Silent_p.E121E|PBX1_ENST00000540246.1_Silent_p.E16E|PBX1_ENST00000401534.1_Silent_p.E121E|PBX1_ENST00000540236.1_Silent_p.E121E	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	121					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CGGGGCCTGAGAAGGGCGGAG	0.627000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								54	32					0	0	0.000781405	0	0
XIRP2	129446	broad.mit.edu	37	2	168074748	168074748	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:168074748A>T	ENST00000409195.1	+	5	885	c.796A>T	c.(796-798)Att>Ttt	p.I266F	XIRP2_ENST00000409756.2_Missense_Mutation_p.I266F|XIRP2_ENST00000409605.1_Missense_Mutation_p.I44F|XIRP2_ENST00000420519.1_Missense_Mutation_p.I299F|XIRP2_ENST00000409273.1_Missense_Mutation_p.I44F|XIRP2_ENST00000295237.9_Missense_Mutation_p.I266F|XIRP2_ENST00000409728.1_Missense_Mutation_p.I299F|XIRP2_ENST00000409043.1_Missense_Mutation_p.I266F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	91					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						TGAGGACGAAATTACTTCTTC	0.398000													27	40					0	0	0.00127121	0	0
SPTA1	6708	broad.mit.edu	37	1	158648241	158648241	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:158648241G>A	ENST00000368148.3	-	6	942	c.762C>T	c.(760-762)ctC>ctT	p.L254L	SPTA1_ENST00000368147.3_Silent_p.L254L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	254					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTGTCTCTGGAGAGCCAAAC	0.428000													24	17					0	0	0.000878237	0	0
DDC	1644	broad.mit.edu	37	7	50607688	50607688	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:50607688G>A	ENST00000444124.2	-	3	440	c.240C>T	c.(238-240)ttC>ttT	p.F80F	DDC_ENST00000357936.5_Silent_p.F80F|DDC_ENST00000426377.1_Intron|DDC_ENST00000380984.4_Silent_p.F80F|DDC_ENST00000431062.1_Silent_p.F80F|DDC_ENST00000489162.1_5'UTR|AC018705.5_ENST00000454521.1_RNA	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	80	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TGGCAGTGGGGAAGTAGGCGA	0.642000													9	25					0	0	0.000442599	0	0
BHLHE40	8553	broad.mit.edu	37	3	5024875	5024875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:5024875G>A	ENST00000256495.3	+	5	1340	c.737G>A	c.(736-738)gGa>gAa	p.G246E		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	246						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						AGTGGCTATGGAGGAGAATCG	0.582000													25	48					0	0	0.000878237	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173591	207173591	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:207173591T>G	ENST00000374423.3	+	5	4725	c.4339T>G	c.(4339-4341)Tgt>Ggt	p.C1447G		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1447							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAATAAGAACTGTGAAGTCTG	0.358000													4	30					0	0	0.00024832	0	0
DNAH9	1770	broad.mit.edu	37	17	11872753	11872753	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:11872753G>A	ENST00000262442.3	+	69	13438	c.13370G>A	c.(13369-13371)gGa>gAa	p.G4457E	DNAH9_ENST00000396001.2_Missense_Mutation_p.G769E|DNAH9_ENST00000454412.2_Missense_Mutation_p.G4381E|RP11-1096G20.5_ENST00000580270.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4457					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGTCAGCGGGGACCCACCTAC	0.517000													33	0					0	0	0.0024448	0	0
CRYZ	1429	broad.mit.edu	37	1	75188903	75188903	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:75188903G>A	ENST00000417775.1	-	4	667	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C	CRYZ_ENST00000370872.3_5'UTR|CRYZ_ENST00000370871.3_Missense_Mutation_p.R55C|CRYZ_ENST00000340866.5_Missense_Mutation_p.R55C	NM_001130042.1	NP_001123514.1	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	55					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	GTACCAGAGCGAATGTATGTC	0.423000													48	49					0	0	0.000781405	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745570	135745570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:135745570G>A	ENST00000375845.3	-	7	902	c.872C>T	c.(871-873)tCt>tTt	p.S291F	MAP3K19_ENST00000358371.4_Missense_Mutation_p.S178F|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.S308F	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		CTTAGGAAAAGAGCACATGTT	0.443000													25	108					0	0	0.00106085	0	0
KRT33B	3884	broad.mit.edu	37	17	39521250	39521250	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:39521250C>T	ENST00000251646.3	-	6	927	c.876_splice	c.e6-1	p.R293_splice		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	293	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity	p.R293Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CAGAGAGTATCGCTGTGGTGG	0.552000													14	25					0	0	0.00185496	0	0
ZNF318	24149	broad.mit.edu	37	6	43325230	43325230	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:43325230G>A	ENST00000361428.2	-	3	899	c.822C>T	c.(820-822)ccC>ccT	p.P274P	ZNF318_ENST00000318149.3_Silent_p.P274P	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	274					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CATCATAACGGGGTCTTTTGG	0.488000													35	27					0	0	0.000814825	0	0
GPR128	84873	broad.mit.edu	37	3	100378648	100378648	+	Missense_Mutation	SNP	C	C	T	rs144717099		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:100378648C>T	ENST00000273352.3	+	14	2208	c.1940C>T	c.(1939-1941)tCg>tTg	p.S647L	GPR128_ENST00000475887.1_Missense_Mutation_p.S352L|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	647					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATTACAATCTCGATCAAAGTG	0.438000													12	39					0	0	0.00136819	0	0
TTN	7273	broad.mit.edu	37	2	179647604	179647604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179647604C>T	ENST00000589042.1	-	18	3253	c.3029G>A	c.(3028-3030)aGc>aAc	p.S1010N	TTN_ENST00000360870.5_Missense_Mutation_p.S1010N|TTN_ENST00000591111.1_Missense_Mutation_p.S1010N|TTN_ENST00000359218.5_Missense_Mutation_p.S964N|TTN_ENST00000342175.6_Missense_Mutation_p.S964N|TTN_ENST00000342992.6_Missense_Mutation_p.S1010N|TTN_ENST00000460472.2_Missense_Mutation_p.S964N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1010	Ig-like 3.						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)			AAATCGCCCGCTGTCTTCCGC	0.498000													22	25					0	0	0.00188189	0	0
OR8J1	219477	broad.mit.edu	37	11	56128572	56128572	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:56128572C>T	ENST00000303039.3	+	1	882	c.850C>T	c.(850-852)Cct>Tct	p.P284S		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GTTGGTAATTCCTATGCTGAA	0.393000													14	22					0	0	0.00244969	0	0
NOD2	64127	broad.mit.edu	37	16	50745455	50745455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:50745455C>T	ENST00000300589.2	+	4	1738	c.1633C>T	c.(1633-1635)Ccc>Tcc	p.P545S		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	545	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GGGCCGCCTCCCCACCCTCCT	0.622000													22	15					0	0	0.000586117	0	0
DAXX	1616	broad.mit.edu	37	6	33289089	33289089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:33289089G>A	ENST00000374542.5	-	3	667	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S	DAXX_ENST00000266000.6_Missense_Mutation_p.P155S|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Missense_Mutation_p.P80S	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	155	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TTCCCAGAGGGCTCATTGGAG	0.557000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								25	37					0	0	0.000720815	0	0
CSF1	1435	broad.mit.edu	37	1	110465890	110465890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:110465890C>T	ENST00000329608.6	+	6	1038	c.647C>T	c.(646-648)gCc>gTc	p.A216V	CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369801.1_Missense_Mutation_p.A216V|CSF1_ENST00000369802.3_Missense_Mutation_p.A216V|CSF1_ENST00000344188.5_Missense_Mutation_p.A216V	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	216					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCCTCCATGGCCCCTGTGGCT	0.642000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	70	43					0	0	0.000781405	0	0
CCR3	1232	broad.mit.edu	37	3	46307076	46307076	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:46307076C>T	ENST00000357422.2	+	4	970	c.427C>T	c.(427-429)Cga>Tga	p.R143*	CCR3_ENST00000395942.2_Nonsense_Mutation_p.R143*|CCR3_ENST00000545097.1_Nonsense_Mutation_p.R164*|CCR3_ENST00000395940.2_Nonsense_Mutation_p.R143*|CCR3_ENST00000541018.1_Nonsense_Mutation_p.R143*			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	143					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GTTTGCCCTTCGAGCCCGGAC	0.498000													22	63					0	0	0.00229938	0	0
KIF26B	55083	broad.mit.edu	37	1	245530267	245530267	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:245530267C>T	ENST00000407071.2	+	3	1037	c.597C>T	c.(595-597)atC>atT	p.I199I	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	199					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGGAGGCCATCCAGATGGTGC	0.632000													14	27					0	0	0.000308642	0	0
CUZD1	50624	broad.mit.edu	37	10	124593228	124593228	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:124593228G>A	ENST00000368904.1	-	10	2560	c.1611C>T	c.(1609-1611)ccC>ccT	p.P537P	CUZD1_ENST00000392790.1_Silent_p.P537P|CUZD1_ENST00000545804.1_Silent_p.P537P			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	537					cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TCAGACGAATGGGTCCTATGA	0.418000													31	118					0	0	0.00209593	0	0
COL27A1	85301	broad.mit.edu	37	9	116931714	116931714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:116931714C>T	ENST00000356083.3	+	3	2270	c.1879C>T	c.(1879-1881)Ccg>Tcg	p.P627S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	627	Collagen-like 1.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GATGGGGCCTCCGGGACCCAA	0.632000													17	66					0	0	0.00152264	0	0
POTEG	404785	broad.mit.edu	37	14	19553578	19553578	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:19553578G>A	ENST00000409832.3	+	1	214	c.162G>A	c.(160-162)atG>atA	p.M54I		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	54								p.M54I(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						ATTCTGCTATGAAGACACTCA	0.617000													27	577					0	0	0.00128727	0	0
CATSPERB	79820	broad.mit.edu	37	14	92088079	92088079	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:92088079C>T	ENST00000256343.3	-	19	2289	c.2133G>A	c.(2131-2133)tgG>tgA	p.W711*		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	711					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AATATATTTTCCATGTTCGTC	0.368000													23	85					0	0	0.00278032	0	0
MYH3	4621	broad.mit.edu	37	17	10538243	10538243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:10538243C>T	ENST00000583535.1	-	31	4357	c.4270G>A	c.(4270-4272)Gga>Aga	p.G1424R	MYH3_ENST00000226209.7_Missense_Mutation_p.G1424R	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1424					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCCACCTCTCCTTGCAGCCTC	0.512000													45	57					0	0	0.000781405	0	0
CDK18	5129	broad.mit.edu	37	1	205499810	205499810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:205499810G>A	ENST00000360066.2	+	15	1668	c.1367G>A	c.(1366-1368)cGa>cAa	p.R456Q	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Missense_Mutation_p.R456Q|CDK18_ENST00000506784.1_Missense_Mutation_p.R486Q	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	454							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CCAGGCTACCGAGGCTTGGCC	0.632000													7	34					0	0	0.000442599	0	0
CNGA2	1260	broad.mit.edu	37	X	150912180	150912180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:150912180G>A	ENST00000329903.4	+	6	1238	c.1205G>A	c.(1204-1206)aGc>aAc	p.S402N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	402					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CGAAAGGTCAGCAAGGGGATG	0.498000													29	34					0	0	0.00178596	0	0
SCN10A	6336	broad.mit.edu	37	3	38753783	38753783	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:38753783G>A	ENST00000449082.2	-	22	3957	c.3958C>T	c.(3958-3960)Ctt>Ttt	p.L1320F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1320					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AAAGGTACAAGGGAAAACTCT	0.448000													29	100					0	0	0.0024448	0	0
GLRA1	2741	broad.mit.edu	37	5	151304061	151304061	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:151304061A>G	ENST00000274576.4	-	1	342	c.50T>C	c.(49-51)tTc>tCc	p.F17S	GLRA1_ENST00000545569.1_5'UTR|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Missense_Mutation_p.F17S	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	17					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATACCTGAAGAATACAATGGT	0.458000													19	46					0	0	0.00047179	0	0
ARAP2	116984	broad.mit.edu	37	4	36069745	36069745	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:36069745G>A	ENST00000303965.4	-	33	5388	c.4899C>T	c.(4897-4899)ttC>ttT	p.F1633F		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1633					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CCAGGCAGTTGAAACTCCGAT	0.517000													24	51					0	0	0.00047179	0	0
ASAP3	55616	broad.mit.edu	37	1	23768717	23768717	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:23768717G>A	ENST00000336689.3	-	7	677	c.633C>T	c.(631-633)ttC>ttT	p.F211F	ASAP3_ENST00000437606.2_Silent_p.F202F	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	211					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GGCTCTGAAGGAAGTCAGGAC	0.557000													4	27					0	0	0.000602214	0	0
ZNF699	374879	broad.mit.edu	37	19	9406533	9406533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9406533G>A	ENST00000591998.1	-	6	1775	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F	ZNF699_ENST00000308650.3_Missense_Mutation_p.S516F			Q32M78	ZN699_HUMAN	zinc finger protein 699	516					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGTAAGGTGGGAGGAACTAAT	0.443000													10	33					0	0	0.000978159	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939698	12939698	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:12939698T>G	ENST00000235349.5	-	4	1174	c.1104A>C	c.(1102-1104)caA>caC	p.Q368H		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	368										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCGTTGACTTGGGAGTCTA	0.507000													131	510					0	0	0.000781405	0	0
IK	3550	broad.mit.edu	37	5	140041216	140041216	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140041216G>A	ENST00000417647.2	+	17	1564	c.1425G>A	c.(1423-1425)aaG>aaA	p.K475K		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	475					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAACAAGAAGGGGCCCTTAG	0.493000													11	6					0	0	0.00185496	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701948	96701948	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:96701948G>A	ENST00000260682.6	+	3	343		c.e3-1		CYP2C9_ENST00000461906.1_Splice_Site	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9						exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CTTCCTGTTAGGAATTGTTTT	0.532000													14	12					0	0	0.00185496	0	0
EPS8L3	79574	broad.mit.edu	37	1	110301041	110301041	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:110301041G>A	ENST00000369805.3	-	8	846	c.617C>T	c.(616-618)tCc>tTc	p.S206F	EPS8L3_ENST00000361852.4_Missense_Mutation_p.S205F|EPS8L3_ENST00000361965.4_Missense_Mutation_p.S205F|EPS8L3_ENST00000494151.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	205	Pro-rich.					cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GGGCCTTGGGGATGGTGGGAG	0.597000													39	199					0	0	0.00195071	0	0
CAPN5	726	broad.mit.edu	37	11	76823639	76823639	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:76823639T>A	ENST00000278559.3	+	4	491	c.302T>A	c.(301-303)aTc>aAc	p.I101N	CAPN5_ENST00000456580.2_Missense_Mutation_p.I141N|CAPN5_ENST00000529629.1_Missense_Mutation_p.I101N|CAPN5_ENST00000531028.1_Intron	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	101	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						ACCCAGGTCATCCCAGACTGG	0.612000													7	16					0	0	0.000673444	0	0
NSUN2	54888	broad.mit.edu	37	5	6625745	6625745	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:6625745G>C	ENST00000264670.6	-	4	708	c.397C>G	c.(397-399)Cga>Gga	p.R133G	NSUN2_ENST00000539938.1_5'UTR|NSUN2_ENST00000506139.1_Missense_Mutation_p.R98G|NSUN2_ENST00000505264.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	133						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						AAGATTTTTCGACTTAAATTT	0.343000													21	16					0	0	0.00047179	0	0
CD163L1	283316	broad.mit.edu	37	12	7531888	7531888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:7531888G>A	ENST00000313599.3	-	9	2114	c.2057C>T	c.(2056-2058)tCg>tTg	p.S686L	CD163L1_ENST00000416109.2_Missense_Mutation_p.S696L|CD163L1_ENST00000396630.1_Missense_Mutation_p.S686L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	686						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.S686L(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTCCATATCCGATGCATCTGA	0.463000													12	10					0	0	0.00136819	0	0
MATN4	8785	broad.mit.edu	37	20	43929849	43929849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:43929849C>T	ENST00000537548.1	-	6	1026	c.782G>A	c.(781-783)aGc>aAc	p.S261N	MATN4_ENST00000372754.1_Missense_Mutation_p.S302N|MATN4_ENST00000342716.4_Missense_Mutation_p.S261N|MATN4_ENST00000372753.1_Missense_Mutation_p.S112N|MATN4_ENST00000360607.5_Missense_Mutation_p.S220N|MATN4_ENST00000372751.4_Missense_Mutation_p.S112N|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000372756.1_Missense_Mutation_p.S261N			O95460	MATN4_HUMAN	matrilin 4	302	EGF-like 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GTTCCCAAAGCTGCAGTAGTC	0.602000											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	81					0	0	0.00128727	0	0
ACSM5	54988	broad.mit.edu	37	16	20442382	20442382	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:20442382C>T	ENST00000331849.4	+	9	1340	c.1193C>T	c.(1192-1194)cCc>cTc	p.P398L		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	398					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						GCGTCCCCACCCTACGATGTG	0.567000													42	98					0	0	0.00285205	0	0
KIF12	113220	broad.mit.edu	37	9	116857321	116857321	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:116857321G>A	ENST00000374118.3	-	8	924	c.687C>T	c.(685-687)acC>acT	p.T229T	KIF12_ENST00000473174.1_5'UTR	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	362	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						CCTGTGGTCGGGTGGTGACCC	0.637000													8	40					0	0	0.000274275	0	0
KCNH1	3756	broad.mit.edu	37	1	211192539	211192539	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:211192539G>A	ENST00000367007.4	-	6	787	c.618C>T	c.(616-618)ccC>ccT	p.P206P	KCNH1_ENST00000271751.4_Silent_p.P206P	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	206					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)		TGATGTGAGGGGGAGTCTTTG	0.438000													69	49					0	0	0.000781405	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882168	228882168	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:228882168C>T	ENST00000392056.3	-	7	3448	c.3402G>A	c.(3400-3402)gtG>gtA	p.V1134V	SPHKAP_ENST00000344657.5_Silent_p.V1134V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1134						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCATCTGGTTCACCATGAACC	0.527000													10	55					0	0	0.00136819	0	0
STAB1	23166	broad.mit.edu	37	3	52557298	52557298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:52557298G>A	ENST00000321725.6	+	64	7157	c.7081G>A	c.(7081-7083)Gat>Aat	p.D2361N		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2361	FAS1 7.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTTCCTGGATGATGAGCTCAC	0.552000													26	88					0	0	0.000720815	0	0
ZNF236	7776	broad.mit.edu	37	18	74563788	74563788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:74563788C>T	ENST00000253159.8	+	3	448	c.250C>T	c.(250-252)Cat>Tat	p.H84Y	ZNF236_ENST00000320610.9_Missense_Mutation_p.H86Y|ZNF236_ENST00000583095.1_3'UTR	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	84					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCTGACACTTCATAAATGCAC	0.428000													19	41					0	0	0.00152264	0	0
CYP2B6	1555	broad.mit.edu	37	19	41515295	41515295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:41515295G>A	ENST00000324071.4	+	5	824	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	273					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GCTCCACATGGAAAAAGTGGG	0.567000													20	93					0	0	0.00188189	0	0
ALOX5	240	broad.mit.edu	37	10	45920485	45920485	+	Missense_Mutation	SNP	C	C	G	rs146711717		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:45920485C>G	ENST00000374391.2	+	6	792	c.739C>G	c.(739-741)Cgg>Ggg	p.R247G	ALOX5_ENST00000542434.1_Missense_Mutation_p.R247G	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	247	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	TGTGTTGATCCGGCGCTGCAC	0.602000													20	69					0	0	0.00188189	0	0
OR10K1	391109	broad.mit.edu	37	1	158435611	158435611	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:158435611C>T	ENST00000289451.2	+	1	340	c.260C>T	c.(259-261)tCc>tTc	p.S87F		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	87					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)					GACCTGCTGTCCCAGAAGAAG	0.488000													27	139					0	0	0.00127121	0	0
ANO4	121601	broad.mit.edu	37	12	101295595	101295595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:101295595G>A	ENST00000392979.3	+	2	393	c.32G>A	c.(31-33)gGa>gAa	p.G11E	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_Missense_Mutation_p.G177E|ANO4_ENST00000392977.3_Missense_Mutation_p.G11E	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	11						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ATCACTAATGGAAAAACCAAA	0.493000										HNSCC(74;0.22)			60	26					0	0	0.000781405	0	0
GLI2	2736	broad.mit.edu	37	2	121740331	121740331	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:121740331C>T	ENST00000452319.1	+	11	1618	c.1558C>T	c.(1558-1560)Ctg>Ttg	p.L520L	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Silent_p.L192L|GLI2_ENST00000361492.4_Silent_p.L520L			P10070	GLI2_HUMAN	GLI family zinc finger 2	520					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTGGAGAACCTGAAGACACA	0.632000													16	37					0	0	0.00074312	0	0
ASB1	51665	broad.mit.edu	37	2	239342322	239342322	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:239342322G>A	ENST00000264607.4	+	2	424	c.177G>A	c.(175-177)gaG>gaA	p.E59E	ASB1_ENST00000469885.1_3'UTR|ASB1_ENST00000409297.1_Silent_p.E59E	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	59					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		TATTGCAAGAGGAGAGCTACC	0.602000													13	80					0	0	0.000422831	0	0
UNC5B	219699	broad.mit.edu	37	10	73055663	73055663	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:73055663C>T	ENST00000335350.6	+	14	2687	c.2271C>T	c.(2269-2271)tcC>tcT	p.S757S	UNC5B_ENST00000373192.4_Silent_p.S746S	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	757					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TGCGCCTCTCCCTCCATGACC	0.607000													13	19					0	0	0.00074312	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321591	79321591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:79321591G>A	ENST00000428286.1	-	8	5722	c.4522C>T	c.(4522-4524)Ccc>Tcc	p.P1508S	PRUNE2_ENST00000376718.3_Missense_Mutation_p.P1867S			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1867					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACTCCCCAGGGACTGGCATTT	0.463000													21	10					0	0	0.00152264	0	0
FSHB	2488	broad.mit.edu	37	11	30255173	30255173	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:30255173G>A	ENST00000417547.1	+	3	255	c.216G>A	c.(214-216)aaG>aaA	p.K72K	FSHB_ENST00000533718.1_Silent_p.K72K|FSHB_ENST00000254122.3_Silent_p.K72K	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	72					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	GTACCTTCAAGGAACTGGTAT	0.483000													19	14					0	0	0.00152264	0	0
EEF2K	29904	broad.mit.edu	37	16	22255972	22255972	+	Nonsense_Mutation	SNP	C	C	T	rs137985480		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:22255972C>T	ENST00000263026.5	+	3	742	c.268C>T	c.(268-270)Cag>Tag	p.Q90*		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	90					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GCACGCAATCCAGAAGGCCAA	0.597000													20	20					0	0	0.00229938	0	0
KRT18P55	284085	broad.mit.edu	37	17	26604046	26604046	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:26604046C>T	ENST00000577198.1	-	0	915					NR_028334.1																						TCTCCAGCTTCCAGTTCTTGG	0.542000													69	44					0	0	0.000781405	0	0
RASGRF1	5923	broad.mit.edu	37	15	79324609	79324609	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:79324609G>A	ENST00000419573.3	-	7	1282	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	RASGRF1_ENST00000558480.2_Silent_p.F336F|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	336	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGTTGCGGACGAACTCTTGGT	0.587000													18	28					0	0	0.00188189	0	0
CXorf22	170063	broad.mit.edu	37	X	35985768	35985768	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:35985768A>C	ENST00000297866.5	+	10	1699	c.1633A>C	c.(1633-1635)Aag>Cag	p.K545Q		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	545										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TCCCACGGGAAAGTTTGTGGT	0.363000													15	0					0	0	0.000422831	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642939	1642939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:1642939C>T	ENST00000399682.1	-	1	429	c.385G>A	c.(385-387)Gga>Aga	p.G129R		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	129	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCACAGCCTCCTTTGGAGCCC	0.652000													30	33					0	0	0.000953801	0	0
MYOM3	127294	broad.mit.edu	37	1	24408641	24408641	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:24408641G>A	ENST00000330966.7	-	18	2295	c.2133C>T	c.(2131-2133)aaC>aaT	p.N711N	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Silent_p.N710N|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000329601.7_Silent_p.N710N|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	710	Fibronectin type-III 4.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCTTCCCGCAGTTCAGGAGGG	0.592000													8	26					0	0	0.000274275	0	0
HCFC1	3054	broad.mit.edu	37	X	153223333	153223333	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:153223333G>A	ENST00000310441.7	-	12	2999	c.2033C>T	c.(2032-2034)tCc>tTc	p.S678F	HCFC1_ENST00000354233.3_Missense_Mutation_p.S609F|HCFC1_ENST00000369984.4_Missense_Mutation_p.S678F	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	678	Interaction with SIN3A.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCCAGATTGGAAATCTAAAA	0.557000													50	2					0	0	0.000781405	0	0
NR5A2	2494	broad.mit.edu	37	1	200143153	200143153	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:200143153C>T	ENST00000367362.3	+	8	1687	c.1441C>T	c.(1441-1443)Ctg>Ttg	p.L481L	NR5A2_ENST00000544748.1_Silent_p.L409L|NR5A2_ENST00000236914.3_Silent_p.L435L	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	481					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CAATGCCGCCCTGCTGGACTA	0.433000													7	21					0	0	0.00198382	0	0
ZNF12	7559	broad.mit.edu	37	7	6731743	6731743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:6731743G>A	ENST00000405858.1	-	5	1371	c.830C>T	c.(829-831)tCc>tTc	p.S277F	ZNF12_ENST00000404360.1_Missense_Mutation_p.S203F|ZNF12_ENST00000342651.5_Missense_Mutation_p.S239F|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	277					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TTTACAGAAGGATTTCCCACA	0.408000													71	20					0	0	0.000781405	0	0
CELA2B	51032	broad.mit.edu	37	1	15808762	15808762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:15808762C>T	ENST00000375910.3	+	4	255	c.230C>T	c.(229-231)tCc>tTc	p.S77F	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	77	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						TCTCCCAGCTCCTCCGGGATC	0.577000													23	54					0	0	0.000586117	0	0
LRPPRC	10128	broad.mit.edu	37	2	44171034	44171034	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:44171034C>T	ENST00000260665.7	-	23	2354		c.e23-1			NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing						mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTAATAGCATCTACAATGAAG	0.368000													75	223					0	0	0.000781405	0	0
GRWD1	83743	broad.mit.edu	37	19	48955988	48955988	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:48955988C>T	ENST00000253237.5	+	7	1280	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	349						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		TGGCCACCTTCAAGCAGCACG	0.647000													32	37					0	0	0.00128727	0	0
RIF1	55183	broad.mit.edu	37	2	152300066	152300066	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:152300066T>C	ENST00000243326.4	+	17	2312	c.1829T>C	c.(1828-1830)cTt>cCt	p.L610P	RIF1_ENST00000444746.2_Missense_Mutation_p.L610P|RIF1_ENST00000453091.2_Missense_Mutation_p.L610P|RIF1_ENST00000428287.2_Missense_Mutation_p.L610P|RIF1_ENST00000430328.2_Missense_Mutation_p.L610P			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	610					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTGGAATCACTTGTAGGCTGT	0.303000													75	110					0	0	0.000781405	0	0
APOBEC3G	60489	broad.mit.edu	37	22	39477044	39477044	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:39477044C>T	ENST00000407997.3	+	3	635	c.278C>T	c.(277-279)tCc>tTc	p.S93F	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.S93F|APOBEC3G_ENST00000461827.1_3'UTR	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G											central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					TGGTACATATCCTGGAGCCCC	0.532000													16	146					0	0	0.00074312	0	0
MUC16	94025	broad.mit.edu	37	19	9048344	9048344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9048344C>T	ENST00000397910.4	-	5	33490	c.33287G>A	c.(33286-33288)gGa>gAa	p.G11096E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11098	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTCACCACTCCTGATACCCC	0.507000													24	29					0	0	0.00278032	0	0
DNAH10	196385	broad.mit.edu	37	12	124333331	124333331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:124333331G>A	ENST00000409039.3	+	33	5675	c.5650G>A	c.(5650-5652)Gat>Aat	p.D1884N		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1884	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGGCTGCTTTGATGAGTTTAA	0.498000													9	21					0	0	0.000274275	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217444	150217444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:150217444G>A	ENST00000313543.4	+	2	539	c.382G>A	c.(382-384)Gtc>Atc	p.V128I		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	128							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAGCACATGGTCATCTTGTT	0.512000													16	58					0	0	0.00121646	0	0
TPR	7175	broad.mit.edu	37	1	186294972	186294972	+	Silent	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:186294972A>G	ENST00000367478.3	-	42	6332	c.6036T>C	c.(6034-6036)acT>acC	p.T2012T		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2012					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TACCTGGATCAGTCCCATCAC	0.363000			T	NTRK1	papillary thyroid								34	27					0	0	0.00058488	0	0
TTN	7273	broad.mit.edu	37	2	179611642	179611642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179611642C>T	ENST00000360870.5	-	46	15707	c.15485G>A	c.(15484-15486)tGg>tAg	p.W5162*	TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	7079	Ig-like 32.						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)			ATCGGAACGCCATATTTCATA	0.388000													21	15					0	0	0.00121646	0	0
CCDC108	255101	broad.mit.edu	37	2	219887933	219887933	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:219887933C>T	ENST00000341552.5	-	16	2899	c.2816G>A	c.(2815-2817)aGa>aAa	p.R939K	CCDC108_ENST00000441968.1_Missense_Mutation_p.R939K|CCDC108_ENST00000453220.1_Missense_Mutation_p.R939K	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	939	MSP.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTCACAAGTCTCTCGTTGGG	0.597000													11	44					0	0	0.000673444	0	0
ACE	1636	broad.mit.edu	37	17	61557763	61557763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:61557763G>A	ENST00000290866.4	+	5	745	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	ACE_ENST00000428043.1_Missense_Mutation_p.E241K|ACE_ENST00000538928.1_Missense_Mutation_p.E241K|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	241	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGACGATCTGGAACACCTCTA	0.612000													58	19					0	0	0.000781405	0	0
ENTHD2	146705	broad.mit.edu	37	17	79202985	79202985	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:79202985T>G	ENST00000374769.2	-	13	1546	c.1069A>C	c.(1069-1071)Agc>Cgc	p.S357R	ENTHD2_ENST00000300714.3_Missense_Mutation_p.S441R|AC027601.1_ENST00000575922.1_RNA					ENTH domain containing 2																		CACCGCCTGCTTTCTGCCAGT	0.677000													5	24					0	0	0.00198382	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72054795	72054795	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:72054795C>T	ENST00000555818.1	+	2	554	c.206C>T	c.(205-207)cCc>cTc	p.P69L	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P69L|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P69L	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	69					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACCTCAACCCCCGGAGTCCCA	0.507000													32	86					0	0	0.00209593	0	0
CILP	8483	broad.mit.edu	37	15	65490746	65490746	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:65490746G>A	ENST00000261883.4	-	9	2044	c.1878C>T	c.(1876-1878)ttC>ttT	p.F626F		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	626					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GGGGATCCAGGAAGGTCACAC	0.522000													54	22					0	0	0.000781405	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014995	75014995	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:75014995G>A	ENST00000379727.3	-	2	642	c.444C>T	c.(442-444)gcC>gcT	p.A148A	CYP1A1_ENST00000395048.2_Silent_p.A148A|CYP1A1_ENST00000567032.1_Silent_p.A148A|CYP1A1_ENST00000395049.4_Silent_p.A148A|CYP1A1_ENST00000564596.1_Intron			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	148					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	CTGGGTCAGAGGCAATGGAGA	0.592000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				68	41					0	0	0.000781405	0	0
DNAH7	56171	broad.mit.edu	37	2	196837012	196837012	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:196837012C>T	ENST00000312428.6	-	16	2112	c.2012G>A	c.(2011-2013)aGg>aAg	p.R671K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	671	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATGATTTTCCTGTGTTCTTC	0.328000													15	90					0	0	0.000566183	0	0
ZNF253	56242	broad.mit.edu	37	19	20002848	20002848	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:20002848C>T	ENST00000589717.1	+	4	884	c.792C>T	c.(790-792)gcC>gcT	p.A264A	ZNF253_ENST00000355650.4_Silent_p.A188A	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	264				Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTGGCAAAGCCTTCAACCGAT	0.413000													10	28					0	0	0.000442599	0	0
EPG5	57724	broad.mit.edu	37	18	43524016	43524016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:43524016G>A	ENST00000282041.5	-	8	1781	c.1747C>T	c.(1747-1749)Ccc>Tcc	p.P583S		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	583					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCATGAAAGGGGAACTGTGCT	0.388000													12	89					0	0	0.00244969	0	0
NEIL3	55247	broad.mit.edu	37	4	178256880	178256880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:178256880C>T	ENST00000264596.3	+	3	435	c.317C>T	c.(316-318)cCa>cTa	p.P106L		NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	106					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		ATGATTAATCCACTTGAGTAT	0.338000								Base excision repair (BER), DNA glycosylases					27	57					0	0	0.00106085	0	0
MUC16	94025	broad.mit.edu	37	19	9072482	9072482	+	Silent	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9072482A>T	ENST00000397910.4	-	3	15167	c.14964T>A	c.(14962-14964)acT>acA	p.T4988T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4990	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCATGGTAAAAGTATCCTGTG	0.468000													23	40					0	0	0.000720815	0	0
ROR2	4920	broad.mit.edu	37	9	94486368	94486368	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:94486368G>A	ENST00000375708.3	-	9	2606	c.2408C>T	c.(2407-2409)cCc>cTc	p.P803L	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	803	Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCCCTTCATGGGGATGAACTG	0.672000													48	36					0	0	0.000781405	0	0
DSC3	1825	broad.mit.edu	37	18	28602348	28602348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:28602348G>A	ENST00000434452.1	-	7	1050	c.896C>T	c.(895-897)cCc>cTc	p.P299L	DSC3_ENST00000360428.4_Missense_Mutation_p.P299L	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	299	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GCCTGTGCTGGGATGCACAGA	0.493000													14	63					0	0	0.000308642	0	0
ATP2A3	489	broad.mit.edu	37	17	3856645	3856645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:3856645G>A	ENST00000309890.7	-	3	365	c.215C>T	c.(214-216)tCc>tTc	p.S72F	ATP2A3_ENST00000359983.3_Missense_Mutation_p.S72F|ATP2A3_ENST00000397035.3_Missense_Mutation_p.S72F|ATP2A3_ENST00000352011.3_Missense_Mutation_p.S72F|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Missense_Mutation_p.S72F|ATP2A3_ENST00000397043.3_Missense_Mutation_p.S72F	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	72					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		ACTTACAAAGGAGACAAGGGC	0.637000													18	31					0	0	0.00188189	0	0
ZNF391	346157	broad.mit.edu	37	6	27369044	27369044	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:27369044C>T	ENST00000244576.4	+	3	1440	c.895C>T	c.(895-897)Cac>Tac	p.H299Y		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						TCAGAGAATCCACAGTGGAGA	0.483000													17	41					0	0	0.000958276	0	0
CD163L1	283316	broad.mit.edu	37	12	7559178	7559178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:7559178G>A	ENST00000313599.3	-	5	1094	c.1037C>T	c.(1036-1038)aCc>aTc	p.T346I	CD163L1_ENST00000416109.2_Missense_Mutation_p.T356I|CD163L1_ENST00000396630.1_Missense_Mutation_p.T346I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	346	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AAAATTGACGGTTCCGGAATG	0.428000													9	40					0	0	0.000978159	0	0
MROH2B	133558	broad.mit.edu	37	5	41033178	41033178	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:41033178A>T	ENST00000399564.4	-	23	2776	c.2326T>A	c.(2326-2328)Ttt>Att	p.F776I	MROH2B_ENST00000506092.2_Missense_Mutation_p.F331I	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TTGTAGGAAAACTGGAACCCC	0.453000													15	8					0	0	0.00121646	0	0
PRDM13	59336	broad.mit.edu	37	6	100056687	100056687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:100056687G>A	ENST00000369214.1	+	2	506	c.245G>A	c.(244-246)cGg>cAg	p.R82Q	PRDM13_ENST00000369215.4_Missense_Mutation_p.R72Q	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	72	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GGGTTAATCCGGGCAGCCAGA	0.622000													9	13					0	0	0.000442599	0	0
DDB1	1642	broad.mit.edu	37	11	61070583	61070583	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:61070583G>A	ENST00000301764.7	-	23	3274	c.2877C>T	c.(2875-2877)atC>atT	p.I959I	DDB1_ENST00000450997.2_Silent_p.I270I|DDB1_ENST00000538470.1_Silent_p.I6I	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	959	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CATCATCCAAGATTTCCACAG	0.448000								Nucleotide excision repair (NER)					34	43					0	0	0.00128727	0	0
TTC13	79573	broad.mit.edu	37	1	231060654	231060654	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:231060654G>A	ENST00000366661.4	-	14	1661	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*	TTC13_ENST00000366662.4_Nonsense_Mutation_p.R499*|TTC13_ENST00000414259.1_Nonsense_Mutation_p.R499*	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	552							binding	p.R552*(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CCATTCATTCGAACTTTCGAG	0.438000													44	151					0	0	0.000781405	0	0
RYR3	6263	broad.mit.edu	37	15	33916059	33916059	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:33916059C>T	ENST00000389232.4	+	20	2479	c.2409C>T	c.(2407-2409)ccC>ccT	p.P803P	RYR3_ENST00000415757.3_Silent_p.P803P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	803					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCTGCCTCCCTCTGGCTATG	0.423000													21	69					0	0	0.00278032	0	0
TRBV6-1	28606	broad.mit.edu	37	7	142028343	142028343	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:142028343C>T	ENST00000390353.2	+	0	134																											GTCACTCAGACCCCAAAATTC	0.522000													6	110					0	0	0.00185496	0	0
TTN	7273	broad.mit.edu	37	2	179613718	179613718	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179613718T>A	ENST00000360870.5	-	46	13631	c.13409A>T	c.(13408-13410)aAa>aTa	p.K4470I	TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	600	Ig-like 24.						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)			TAGAACTCCTTTTTCTACATG	0.348000													10	25					0	0	0.000442599	0	0
MMP19	4327	broad.mit.edu	37	12	56233442	56233442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:56233442G>A	ENST00000322569.4	-	5	695	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C	MMP19_ENST00000548629.1_Missense_Mutation_p.R179C|MMP19_ENST00000409200.3_Intron	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	202					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						TTCACCCCACGGTAGGTCCCC	0.612000													4	16					0	0	0.000602214	0	0
XKR9	389668	broad.mit.edu	37	8	71646610	71646610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:71646610G>A	ENST00000408926.3	+	5	1607	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.G358E	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	358						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GAAATTGATGGAAAACCAGTT	0.279000													11	22					0	0	0.000308642	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369205	20369205	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:20369205C>T	ENST00000593655.1	-	0	199																											AATCAAGGATCTTATGGTTGG	0.398000													23	65					0	0	0.000586117	0	0
PLXND1	23129	broad.mit.edu	37	3	129279270	129279270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:129279270G>A	ENST00000393239.1	-	31	5214	c.5036C>T	c.(5035-5037)cCt>cTt	p.P1679L	PLXND1_ENST00000324093.4_Missense_Mutation_p.P1679L			Q9Y4D7	PLXD1_HUMAN	plexin D1	1679					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CTCGTCCGTAGGCAGCACCTG	0.647000													4	6					0	0	0.000602214	0	0
PRDM9	56979	broad.mit.edu	37	5	23524459	23524459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:23524459C>T	ENST00000296682.3	+	10	1149	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	323	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R323W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAACTGTGCCCGGGATGATGA	0.542000										HNSCC(3;0.000094)			13	35					0	0	0.00229938	0	0
ZNF607	84775	broad.mit.edu	37	19	38190771	38190771	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:38190771G>A	ENST00000355202.4	-	5	856	c.261C>T	c.(259-261)atC>atT	p.I87I	CTD-2528L19.4_ENST00000586606.2_Silent_p.I87I|ZNF607_ENST00000395835.3_Silent_p.I86I	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TCCCATCGCTGATTATTTCAC	0.318000													17	66					0	0	0.00074312	0	0
SHANK2	22941	broad.mit.edu	37	11	70348903	70348903	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:70348903T>A	ENST00000338508.4	-	24	2197	c.2198A>T	c.(2197-2199)aAa>aTa	p.K733I	SHANK2_ENST00000409530.1_Missense_Mutation_p.K143I|SHANK2_ENST00000357171.3_Missense_Mutation_p.K144I|SHANK2_ENST00000423696.2_Missense_Mutation_p.K353I|SHANK2_ENST00000409161.1_Missense_Mutation_p.K143I|SHANK2_ENST00000449833.2_Missense_Mutation_p.K144I|SHANK2_ENST00000449116.2_Missense_Mutation_p.K144I			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	353					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCATGTACCTTTCTTCCTGGC	0.667000													8	9					0	0	0.000442599	0	0
KANK4	163782	broad.mit.edu	37	1	62739788	62739788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:62739788C>T	ENST00000371153.4	-	3	1366	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	330										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCCAGGCTTTCCTCAGTTACC	0.572000													19	88					0	0	0.00121646	0	0
TPTEP1	387590	broad.mit.edu	37	22	17119484	17119484	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:17119484C>T	ENST00000426585.1	+	0	296																											TTGGAGTTTTCCTGGTCTTAC	0.333000													19	102					0	0	0.00121646	0	0
C11orf82	220042	broad.mit.edu	37	11	82625887	82625887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:82625887C>T	ENST00000533655.1	+	3	319	c.107C>T	c.(106-108)tCc>tTc	p.S36F	C11orf82_ENST00000430323.2_Missense_Mutation_p.S36F|C11orf82_ENST00000525361.1_Missense_Mutation_p.S36F|C11orf82_ENST00000525388.1_Missense_Mutation_p.S36F|C11orf82_ENST00000524921.1_Missense_Mutation_p.S36F|C11orf82_ENST00000329143.3_5'UTR|C11orf82_ENST00000528759.1_Missense_Mutation_p.S36F	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	36					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ATCCTGGTCTCCAAAAGGTAA	0.388000													8	13					0	0	0.000274275	0	0
CSMD1	64478	broad.mit.edu	37	8	3216769	3216769	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:3216769G>A	ENST00000520002.1	-	22	3767	c.3212C>T	c.(3211-3213)tCc>tTc	p.S1071F	CSMD1_ENST00000542608.1_Missense_Mutation_p.S1070F|CSMD1_ENST00000539096.1_Missense_Mutation_p.S1070F|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1070F|CSMD1_ENST00000602723.1_Missense_Mutation_p.S1071F|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1071F|CSMD1_ENST00000602557.1_Missense_Mutation_p.S1071F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1071	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGGAAGCAGGAAAACGTCAG	0.557000													35	107					0	0	0.000692331	0	0
VAX2	25806	broad.mit.edu	37	2	71160080	71160080	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:71160080C>T	ENST00000234392.2	+	3	651	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	207					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						GACCCCTAGCCTGCCAGGCCT	0.697000													12	35					0	0	0.00185496	0	0
NPSR1	387129	broad.mit.edu	37	7	34851472	34851472	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:34851472G>A	ENST00000360581.1	+	4	603	c.475G>A	c.(475-477)Gga>Aga	p.G159R	NPSR1_ENST00000359791.1_Missense_Mutation_p.G159R|NPSR1_ENST00000381539.3_Missense_Mutation_p.G159R|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000531252.1_Missense_Mutation_p.G148R	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	159						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GTTCCTTCAAGGAGGTGAGCT	0.448000													26	116					0	0	0.001512	0	0
TMEM150C	441027	broad.mit.edu	37	4	83411342	83411342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:83411342C>T	ENST00000449862.2	-	7	731	c.413G>A	c.(412-414)gGa>gAa	p.G138E	TMEM150C_ENST00000508701.1_3'UTR|TMEM150C_ENST00000515780.1_Missense_Mutation_p.G138E	NM_001080506.1	NP_001073975.1	B9EJG8	T150C_HUMAN	transmembrane protein 150C	138						integral to membrane				ovary(1)	1						TGTGCCAAATCCAAAGGTCAA	0.463000													111	70					0	0	0.000781405	0	0
PTPRB	5787	broad.mit.edu	37	12	71029509	71029509	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:71029509C>T	ENST00000334414.6	-	2	437	c.393G>A	c.(391-393)atG>atA	p.M131I	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.M130I|PTPRB_ENST00000550358.1_Missense_Mutation_p.M131I	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CATCTATTTTCATCCAGCTAT	0.438000													11	29					0	0	0.000978159	0	0
SEL1L3	23231	broad.mit.edu	37	4	25783914	25783914	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:25783914C>T	ENST00000399878.3	-	15	2529	c.2407G>A	c.(2407-2409)Gga>Aga	p.G803R	SEL1L3_ENST00000502949.1_Missense_Mutation_p.G650R|SEL1L3_ENST00000264868.5_Missense_Mutation_p.G768R	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	803						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TGCAGGACTCCAAGATTGTAT	0.448000													21	74					0	0	0.000586117	0	0
WDR96	80217	broad.mit.edu	37	10	105926468	105926468	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:105926468C>T	ENST00000357060.3	-	23	2932	c.2817G>A	c.(2815-2817)aaG>aaA	p.K939K	WDR96_ENST00000428666.1_Silent_p.K940K	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	939										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTACAATTTCCTTCCGTAGCT	0.348000													46	52					0	0	0.000781405	0	0
SGPP2	130367	broad.mit.edu	37	2	223423285	223423285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:223423285G>A	ENST00000321276.7	+	5	954	c.868G>A	c.(868-870)Gga>Aga	p.G290R		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	290					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		AGTGACCATAGGATTCTGGAT	0.502000													20	71					0	0	0.00229938	0	0
GOLGB1	2804	broad.mit.edu	37	3	121417610	121417610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:121417610C>T	ENST00000393667.3	-	13	1870	c.1760G>A	c.(1759-1761)gGa>gAa	p.G587E	GOLGB1_ENST00000340645.5_Missense_Mutation_p.G582E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	582					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGCCCTTTTTCCCTGGAGCTG	0.358000													12	39					0	0	0.00136819	0	0
OPN1MW	2652	broad.mit.edu	37	X	153458976	153458976	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:153458976C>T	ENST00000369935.5	+	5	882	c.822C>T	c.(820-822)gtC>gtT	p.V274V	OPN1MW_ENST00000468495.1_3'UTR	NM_000513.2	NP_000504.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive	274					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|lung(1)	2	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGTGATGGTCCTGGCATTCT	0.577000													50	115					0	0	0.000781405	0	0
PCSK1	5122	broad.mit.edu	37	5	95728839	95728839	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:95728839G>A	ENST00000311106.3	-	14	2365	c.2128C>T	c.(2128-2130)Cct>Tct	p.P710S	PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.P663S|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	710					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGCTGGGAAGGTTTGTTCAGC	0.418000													42	93					0	0	0.000781405	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52115563	52115563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:52115563G>A	ENST00000222107.4	-	9	1715	c.1577C>T	c.(1576-1578)tCt>tTt	p.S526F	SIGLEC5_ENST00000534261.2_Missense_Mutation_p.S526F|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.S526F|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.S526F|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.S526F			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	526					cell adhesion	integral to membrane	sugar binding	p.S526Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTCATCTCAGAAAAACTAAG	0.552000													36	106					0	0	0.000953801	0	0
AMPH	273	broad.mit.edu	37	7	38431535	38431535	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:38431535C>T	ENST00000356264.2	-	19	1907	c.1692G>A	c.(1690-1692)gaG>gaA	p.E564E	AMPH_ENST00000325590.5_Silent_p.E522E|AMPH_ENST00000428293.2_Silent_p.E522E	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	564					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TCTCCTTGGGCTCTGCACCTA	0.592000													12	62					0	0	0.000978159	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884964	24884964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:24884964C>T	ENST00000382554.3	+	9	4327	c.4009C>T	c.(4009-4011)Ccc>Tcc	p.P1337S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1337					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCCCACCAGCCCCCCTGTCTC	0.612000													37	95					0	0	0.000692331	0	0
TACR2	6865	broad.mit.edu	37	10	71166976	71166976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:71166976G>A	ENST00000373306.4	-	4	1345	c.802C>T	c.(802-804)Ctc>Ttc	p.L268F	TACR2_ENST00000373307.1_Missense_Mutation_p.L56F	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	268					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	ATGAAGTAGAGGTGGTAGGGC	0.537000													11	8					0	0	0.000978159	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961290	51961290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:51961290C>T	ENST00000321424.3	-	1	418	c.352G>A	c.(352-354)Gat>Aat	p.D118N	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.D118N|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.D118N	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	118	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GACCCCTTATCCCTCTTCCTG	0.488000													78	90					0	0	0.000781405	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516270	138516270	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:138516270G>A	ENST00000371763.1	-	5	757	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	168					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TGCTGAAGAGGAAGTCCACCT	0.597000													28	31					0	0	0.001512	0	0
TRAV4	28689	broad.mit.edu	37	14	22205169	22205169	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:22205169C>T	ENST00000390426.2	+	0	300																											GAAGTGGCCTCCCTGTTTATC	0.498000													9	20					0	0	0.000442599	0	0
BDKRB2	624	broad.mit.edu	37	14	96707157	96707157	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:96707157C>T	ENST00000542454.2	+	3	3499	c.411C>T	c.(409-411)tcC>tcT	p.S137S	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Silent_p.S164S|BDKRB2_ENST00000539359.1_Silent_p.S137S|BDKRB2_ENST00000554311.1_Silent_p.S164S			P30411	BKRB2_HUMAN	bradykinin receptor B2	164					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		AAACCATGTCCATGGGCCGGA	0.592000													36	115					0	0	0.000953801	0	0
TCF21	6943	broad.mit.edu	37	6	134210763	134210763	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:134210763G>A	ENST00000367882.4	+	1	488	c.228G>A	c.(226-228)ggG>ggA	p.G76G	TCF21_ENST00000237316.3_Silent_p.G76G|RP3-323P13.2_ENST00000607573.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	76					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		GCCAGGAGGGGAAGCAGGTCC	0.692000													10	18					0	0	0.000978159	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264294	61264294	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:61264294G>A	ENST00000344731.5	+	8	975	c.873G>A	c.(871-873)gaG>gaA	p.E291E	SERPINB13_ENST00000269489.5_Silent_p.E239E	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	291					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTGAGGTGGAGGACGGTTACG	0.522000													26	158					0	0	0.00106085	0	0
DSP	1832	broad.mit.edu	37	6	7584062	7584062	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:7584062G>A	ENST00000379802.3	+	24	6908	c.6567G>A	c.(6565-6567)cgG>cgA	p.R2189R	DSP_ENST00000418664.2_Silent_p.R1590R	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2189	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGAAGGAACGGTGCAGAATCG	0.468000													23	84					0	0	0.00278032	0	0
CIC	23152	broad.mit.edu	37	19	42794425	42794425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:42794425C>T	ENST00000572681.2	+	11	4300	c.4232C>T	c.(4231-4233)tCc>tTc	p.S1411F	CIC_ENST00000575354.2_Missense_Mutation_p.S502F|CIC_ENST00000160740.3_Missense_Mutation_p.S502F			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ATCCGTTCCTCCTTTACCCAC	0.617000			"""Mis, F, S"""		oligodendroglioma								24	71					0	0	0.00278032	0	0
PKD2	5311	broad.mit.edu	37	4	88973229	88973229	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:88973229C>T	ENST00000237596.2	+	7	1701	c.1635C>T	c.(1633-1635)ttC>ttT	p.F545F	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_5'UTR	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	545						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		AAAATACTTTCCCCAACTTTG	0.353000													47	24					0	0	0.000781405	0	0
SNHG14	104472715	broad.mit.edu	37	15	25287125	25287125	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:25287125C>T	ENST00000552781.1	+	0	328				SNORD109A_ENST00000459128.1_RNA																							TTGTTTGGATCGATGATGAGA	0.428000													35	25					0	0	0.00222228	0	0
SLIT3	6586	broad.mit.edu	37	5	168199797	168199797	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:168199797A>G	ENST00000519560.1	-	14	1867	c.1448T>C	c.(1447-1449)tTc>tCc	p.F483S	SLIT3_ENST00000404867.3_Missense_Mutation_p.F483S|SLIT3_ENST00000332966.8_Missense_Mutation_p.F483S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	483	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAGCAGCGGAACTTCTTGCT	0.607000													14	37					0	0	0.000566183	0	0
COL4A5	1287	broad.mit.edu	37	X	107938566	107938566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:107938566C>T	ENST00000328300.6	+	52	5135	c.4891C>T	c.(4891-4893)Cgt>Tgt	p.R1631C	COL4A5_ENST00000361603.2_Missense_Mutation_p.R1625C	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1625	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGAAGAGTTTCGTTCAGCTCC	0.493000									Alport syndrome with Diffuse Leiomyomatosis				23	33					0	0	0.00127121	0	0
BBS12	166379	broad.mit.edu	37	4	123663614	123663614	+	Silent	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:123663614T>G	ENST00000542236.1	+	3	948	c.567T>G	c.(565-567)ctT>ctG	p.L189L	BBS12_ENST00000314218.3_Silent_p.L189L	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	189					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TTTCCAACCTTTCTGGGAGAC	0.403000									Bardet-Biedl syndrome				22	49					0	0	0.00229938	0	0
PTCHD2	57540	broad.mit.edu	37	1	11579867	11579867	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:11579867C>T	ENST00000294484.6	+	9	2268	c.2130C>T	c.(2128-2130)atC>atT	p.I710I	PTCHD2_ENST00000389575.3_Silent_p.I710I	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	710					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCCATCTCATCGTGCAGCTGC	0.672000													29	108					0	0	0.001512	0	0
TRPV6	55503	broad.mit.edu	37	7	142575033	142575033	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:142575033C>T	ENST00000359396.3	-	4	595		c.e4-1		RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6						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)					GCAGTCTGACCTGGCCCAGAG	0.627000													16	67					0	0	0.00074312	0	0
GGT5	2687	broad.mit.edu	37	22	24616028	24616028	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:24616028G>A	ENST00000327365.4	-	12	2087	c.1671C>T	c.(1669-1671)ttC>ttT	p.F557F	GGT5_ENST00000398292.3_Silent_p.F558F|GGT5_ENST00000263112.7_Silent_p.F525F|GGT5_ENST00000418439.2_Silent_p.F481F	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	557					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCACGTTCAGGAAGAAGGGCC	0.632000													44	11					0	0	0.000781405	0	0
ASIC4	55515	broad.mit.edu	37	2	220397091	220397091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:220397091G>A	ENST00000358078.4	+	4	1305	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K	ASIC4_ENST00000347842.3_Missense_Mutation_p.E431K|ASIC4_ENST00000473709.1_3'UTR			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	431						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										TGAGCTCAGGGAGCCTGAGCT	0.642000													30	27					0	0	0.00127121	0	0
MLXIPL	51085	broad.mit.edu	37	7	73010233	73010233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:73010233C>T	ENST00000313375.3	-	14	2172	c.2125G>A	c.(2125-2127)Ggc>Agc	p.G709S	MLXIPL_ENST00000395189.1_Missense_Mutation_p.G616S|MLXIPL_ENST00000354613.1_Missense_Mutation_p.G688S|MLXIPL_ENST00000414749.2_Missense_Mutation_p.G707S|MLXIPL_ENST00000429400.2_Missense_Mutation_p.G690S|MLXIPL_ENST00000434326.1_Missense_Mutation_p.G615S	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	709	Leucine-zipper.				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCCTGCAAGCCCGCACGCTCC	0.632000													30	0					0	0	0.00178596	0	0
C1orf65	164127	broad.mit.edu	37	1	223568257	223568257	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:223568257G>A	ENST00000366875.3	+	1	1543	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	480										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AGGCCCAGAAGGAGGAAGAGC	0.592000													29	34					0	0	0.00178596	0	0
COL8A2	1296	broad.mit.edu	37	1	36564630	36564630	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:36564630C>T	ENST00000397799.1	-	4	876	c.652G>A	c.(652-654)Gcc>Acc	p.A218T	COL8A2_ENST00000303143.4_Missense_Mutation_p.A218T|COL8A2_ENST00000481785.1_Missense_Mutation_p.A153T			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	218	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCCCTGGGGCCCCAGGCAGC	0.716000													7	21					0	0	0.00198382	0	0
KCNA5	3741	broad.mit.edu	37	12	5154166	5154166	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:5154166C>G	ENST00000252321.3	+	1	1082	c.853C>G	c.(853-855)Cct>Gct	p.P285A		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	285						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GCTCCGCCACCCTCCGGCGCC	0.682000													28	46					0	0	0.000878237	0	0
SENP7	57337	broad.mit.edu	37	3	101062652	101062652	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:101062652G>A	ENST00000394095.2	-	14	2037	c.1984C>T	c.(1984-1986)Cct>Tct	p.P662S	SENP7_ENST00000348610.3_Missense_Mutation_p.P629S|SENP7_ENST00000358203.3_Missense_Mutation_p.P498S|SENP7_ENST00000394094.2_Missense_Mutation_p.P597S|SENP7_ENST00000394091.1_Missense_Mutation_p.P498S|SENP7_ENST00000314261.7_Missense_Mutation_p.P596S	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	662					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGAAACAAAGGAAATGCCTGA	0.358000													23	22					0	0	0.00229938	0	0
THSD7B	80731	broad.mit.edu	37	2	137928430	137928430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:137928430G>A	ENST00000409968.1	+	7	1823	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.E549K|THSD7B_ENST00000413152.2_Missense_Mutation_p.E518K					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCTGGCATCAGAAGGGATCTG	0.537000													10	28					0	0	0.000673444	0	0
ATP2B2	491	broad.mit.edu	37	3	10430007	10430007	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:10430007G>A	ENST00000397077.1	-	8	1436	c.861C>T	c.(859-861)acC>acT	p.T287T	ATP2B2_ENST00000343816.4_Silent_p.T287T|ATP2B2_ENST00000352432.4_Silent_p.T287T|ATP2B2_ENST00000383800.4_Silent_p.T287T|ATP2B2_ENST00000360273.2_Silent_p.T287T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	287					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCCCCAGGAGGGTAAAGATGA	0.522000													53	164					0	0	0.000781405	0	0
C12orf66	144577	broad.mit.edu	37	12	64609701	64609701	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:64609701A>T	ENST00000311915.8	-	2	305	c.278T>A	c.(277-279)aTc>aAc	p.I93N	C12orf66_ENST00000398055.3_Missense_Mutation_p.I93N|C12orf66_ENST00000544871.1_Missense_Mutation_p.I40N			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	93										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						TGAAGTATAGATGGTGCGGAT	0.507000													11	27					0	0	0.000978159	0	0
GABRB2	2561	broad.mit.edu	37	5	160721205	160721205	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:160721205C>T	ENST00000274547.2	-	11	1639	c.1422G>A	c.(1420-1422)ctG>ctA	p.L474L	GABRB2_ENST00000517547.1_Silent_p.L276L|GABRB2_ENST00000520240.1_Silent_p.L436L|GABRB2_ENST00000353437.6_Silent_p.L436L|GABRB2_ENST00000517901.1_Silent_p.L373L|GABRB2_ENST00000393959.1_Silent_p.L474L	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	474					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGGTGATTTTCAGTTGGGAGG	0.502000													5	21					0	0	0.000602214	0	0
PPIA	5478	broad.mit.edu	37	7	44838999	44838999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:44838999C>T	ENST00000468812.1	+	3	154	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C	PPIA_ENST00000355968.6_5'UTR|PPIA_ENST00000480603.1_3'UTR|PPIA_ENST00000489459.1_5'UTR|PPIA_ENST00000451562.1_Missense_Mutation_p.R37C	NM_021130.3	NP_066953.1	P62937	PPIA_HUMAN	peptidylprolyl isomerase A (cyclophilin A)	37	PPIase cyclophilin-type.				entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|RNA-dependent DNA replication|uncoating of virus	cytosol|extracellular region|nucleus	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	AGAAAATTTTCGTGCTCTGAG	0.313000													31	142					0	0	0.00209593	0	0
AXIN1	8312	broad.mit.edu	37	16	347774	347774	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:347774A>G	ENST00000262320.3	-	6	2103	c.1732T>C	c.(1732-1734)Tac>Cac	p.Y578H	AXIN1_ENST00000354866.3_Missense_Mutation_p.Y578H	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	578	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CTCTCTGAGTAGCCTCGGGAC	0.692000													19	9					0	0	0.00188189	0	0
GAA	2548	broad.mit.edu	37	17	78092138	78092138	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:78092138C>T	ENST00000302262.3	+	18	2847	c.2628C>T	c.(2626-2628)gtC>gtT	p.V876V	GAA_ENST00000390015.3_Silent_p.V876V	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	876					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	ACACACAGGTCATCTTCCTGG	0.672000													25	81					0	0	0.000720815	0	0
USH1C	10083	broad.mit.edu	37	11	17531344	17531344	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:17531344G>A	ENST00000005226.7	-	18	1571	c.1572C>T	c.(1570-1572)ccC>ccT	p.P524P	USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0	PDZ 3.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GTGGGGCCAGGGGAGACACAG	0.587000													30	25					0	0	0.000692331	0	0
TTN	7273	broad.mit.edu	37	2	179641514	179641514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179641514C>T	ENST00000589042.1	-	28	5301	c.5077G>A	c.(5077-5079)Gat>Aat	p.D1693N	TTN_ENST00000360870.5_Missense_Mutation_p.D1693N|TTN_ENST00000591111.1_Missense_Mutation_p.D1693N|TTN_ENST00000359218.5_Missense_Mutation_p.D1647N|TTN_ENST00000342175.6_Missense_Mutation_p.D1647N|TTN_ENST00000342992.6_Missense_Mutation_p.D1693N|TTN_ENST00000460472.2_Missense_Mutation_p.D1647N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1447							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)			TCATAGAGATCACCTTCTTCC	0.463000													12	28					0	0	0.00185496	0	0
SP140	11262	broad.mit.edu	37	2	231152662	231152662	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:231152662G>A	ENST00000392045.3	+	18	1815	c.1701G>A	c.(1699-1701)caG>caA	p.Q567Q	SP140_ENST00000343805.6_Silent_p.Q507Q|SP140_ENST00000417495.3_Silent_p.Q453Q|SP140_ENST00000350136.5_Silent_p.Q436Q|SP140_ENST00000486687.2_Silent_p.Q491Q|SP140_ENST00000420434.3_Silent_p.Q540Q	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	567					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAGCTGCACAGAAAAGAGTCC	0.393000													6	23					0	0	0.000157383	0	0
NLRP4	147945	broad.mit.edu	37	19	56382317	56382317	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:56382317C>T	ENST00000301295.6	+	7	2901	c.2479C>T	c.(2479-2481)Ctc>Ttc	p.L827F	NLRP4_ENST00000587891.1_Missense_Mutation_p.L752F|NLRP4_ENST00000346986.5_Missense_Mutation_p.L771F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	827							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ACTGAAAACTCTCTGCGAGGC	0.502000													27	67					0	0	0.00127121	0	0
ATP13A5	344905	broad.mit.edu	37	3	193068932	193068932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:193068932C>T	ENST00000342358.4	-	7	782	c.665G>A	c.(664-666)gGt>gAt	p.G222D		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	222					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTCTATGTAACCTTGAGACAG	0.418000													10	35					0	0	0.000673444	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42285016	42285016	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:42285016G>A	ENST00000399518.3	-	13	1875	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L	PLA2G4E_ENST00000413860.2_Silent_p.L434L|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	451	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TGCGCTGCCGGAGCTCCTCCT	0.582000													17	28					0	0	0.000566183	0	0
CORO1C	23603	broad.mit.edu	37	12	109051152	109051152	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:109051152G>A	ENST00000261401.3	-	6	850	c.678C>T	c.(676-678)ttC>ttT	p.F226F	CORO1C_ENST00000541050.1_Silent_p.F226F|CORO1C_ENST00000421578.2_Silent_p.F121F|CORO1C_ENST00000420959.2_Silent_p.F279F|CORO1C_ENST00000549772.1_Silent_p.F232F|CORO1C_ENST00000549384.1_Intron	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	226					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						CATCGGCCAGGAAGATGGCTC	0.552000													18	45					0	0	0.00074312	0	0
CCDC170	80129	broad.mit.edu	37	6	151869468	151869468	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:151869468C>T	ENST00000367290.5	+	5	707	c.618C>T	c.(616-618)ttC>ttT	p.F206F	CCDC170_ENST00000239374.7_Silent_p.F206F			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	206																	AAAATGAATTCGTGAAAGGAC	0.368000													8	22					0	0	0.000274275	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37962599	37962599	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:37962599C>T	ENST00000249014.4	+	2	663	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	81					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCCGCAGCTTCCTGGCCAAGA	0.706000													14	32					0	0	0.00244969	0	0
MYL4	4635	broad.mit.edu	37	17	45299208	45299208	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:45299208C>T	ENST00000354968.1	+	5	602	c.474C>T	c.(472-474)gtC>gtT	p.V158V	MYL4_ENST00000572316.1_Silent_p.V158V|MYL4_ENST00000393450.1_Silent_p.V158V	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	158	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						TTCGGCACGTCCTTGCCACCC	0.602000													13	33					0	0	0.00244969	0	0
SHANK1	50944	broad.mit.edu	37	19	51217121	51217121	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:51217121G>A	ENST00000293441.1	-	5	744	c.726C>T	c.(724-726)ttC>ttT	p.F242F	SHANK1_ENST00000359082.3_Silent_p.F242F|SHANK1_ENST00000391814.1_Silent_p.F242F	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	242					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCCGGGCCCGGAAGTCAATGT	0.667000													13	44					0	0	0.00136819	0	0
FCRL3	115352	broad.mit.edu	37	1	157665383	157665383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:157665383G>A	ENST00000368184.3	-	8	1438	c.1147C>T	c.(1147-1149)Cct>Tct	p.P383S	FCRL3_ENST00000368186.5_Missense_Mutation_p.P383S|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	383	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GTGAGGACAGGGTGAGATACC	0.572000													14	53					0	0	0.000422831	0	0
CDYL2	124359	broad.mit.edu	37	16	80667001	80667001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:80667001C>T	ENST00000299564.8	-	3	904	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	CDYL2_ENST00000562812.1_Missense_Mutation_p.R251Q|CDYL2_ENST00000566173.1_Missense_Mutation_p.R251Q|CDYL2_ENST00000563890.1_Missense_Mutation_p.R251Q	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	250						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						AACGATGTCTCGAAACCGACA	0.537000													22	74					0	0	0.000586117	0	0
SLC6A14	11254	broad.mit.edu	37	X	115590032	115590032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:115590032C>T	ENST00000371900.4	+	14	1928	c.1840C>T	c.(1840-1842)Cgt>Tgt	p.R614C	SLC6A14_ENST00000463626.1_3'UTR	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	614					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	GGAACAACATCGTGGGGAAAG	0.408000													45	5					0	0	0.000781405	0	0
SYNPO2	171024	broad.mit.edu	37	4	119979005	119979005	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:119979005C>T	ENST00000307142.4	+	5	3898	c.3702C>T	c.(3700-3702)tcC>tcT	p.S1234S	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAATCATGTCCATGGAAACCA	0.433000													24	37					0	0	0.00278032	0	0
LIN28B	389421	broad.mit.edu	37	6	105526471	105526471	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:105526471C>T	ENST00000345080.4	+	4	769	c.566C>T	c.(565-567)tCa>tTa	p.S189L		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	189					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CCATGCACTTCAACTCTCCCT	0.557000													16	22					0	0	0.000422831	0	0
SEPT3	55964	broad.mit.edu	37	22	42383211	42383211	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:42383211G>A	ENST00000396425.3	+	4	464	c.331_splice	c.e4-1	p.V111_splice	SEPT3_ENST00000406029.1_Splice_Site_p.V47_splice|SEPT3_ENST00000396426.3_Splice_Site_p.V111_splice|SEPT3_ENST00000291236.11_Splice_Site_p.V47_splice|SEPT3_ENST00000328414.8_Intron	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	111					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CACCCCCAGTGATAGAGGAAG	0.522000													8	92					0	0	0.000274275	0	0
ZNF606	80095	broad.mit.edu	37	19	58490821	58490821	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:58490821G>A	ENST00000341164.4	-	7	1847	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	ZNF606_ENST00000536132.1_Silent_p.F319F	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AGCTCCAGATGAAAGACGTCC	0.393000													28	57					0	0	0.000878237	0	0
BPTF	2186	broad.mit.edu	37	17	65914840	65914840	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:65914840C>T	ENST00000321892.4	+	14	5753	c.5692C>T	c.(5692-5694)Cag>Tag	p.Q1898*	BPTF_ENST00000335221.5_Nonsense_Mutation_p.Q1898*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.Q1759*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.Q1772*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1898					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTATAGACTTCAGACAGTAAA	0.423000													43	143					0	0	0.000781405	0	0
AC096579.13	0	broad.mit.edu	37	2	89156784	89156784	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:89156784G>A	ENST00000452230.1	-	0	39				IGKC_ENST00000390237.2_RNA|AC096579.7_ENST00000430694.1_RNA																							ACCGCAATAGGGGTAGGTCCC	0.522000													6	5					0	0	0.00116845	0	0
ENPP3	5169	broad.mit.edu	37	6	131997883	131997883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:131997883C>T	ENST00000414305.1	+	11	1208	c.880C>T	c.(880-882)Cca>Tca	p.P294S	ENPP3_ENST00000358229.5_Missense_Mutation_p.P294S|ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.P294S			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	294	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CAGAAGTGTCCCATTTGAAGA	0.348000													7	18					0	0	0.000274275	0	0
LRIG1	26018	broad.mit.edu	37	3	66457825	66457825	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:66457825G>A	ENST00000383703.3	-	8	1629	c.1026C>T	c.(1024-1026)tcC>tcT	p.S342S	LRIG1_ENST00000273261.3_Silent_p.S342S			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	342						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TGTGGCTGATGGAATTGTGGC	0.592000													12	34					0	0	0.00244969	0	0
GGTLC1	92086	broad.mit.edu	37	20	23965943	23965943	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:23965943G>A	ENST00000335694.4	-	6	792	c.588C>T	c.(586-588)ttC>ttT	p.F196F	GGTLC1_ENST00000286890.4_Silent_p.F196F|GGTLC1_ENST00000278765.4_Silent_p.F196F	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	196							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CCACAGCAATGAAGGTGGACG	0.632000													36	87					0	0	0.00128727	0	0
CYP26C1	340665	broad.mit.edu	37	10	94822677	94822677	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:94822677G>A	ENST00000285949.5	+	3	630	c.630G>A	c.(628-630)ctG>ctA	p.L210L		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	210					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				GCGCCACGCTGGCCCGGACCT	0.677000													12	21					0	0	0.000566183	0	0
LRRC7	57554	broad.mit.edu	37	1	70488833	70488833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:70488833G>A	ENST00000310961.5	+	18	1889	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Missense_Mutation_p.E486K|RP11-181B18.1_ENST00000414132.1_RNA			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	486						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGCCCCCTGGGAAAGGGGCCA	0.517000													16	28					0	0	0.00074312	0	0
EHMT1	79813	broad.mit.edu	37	9	140728941	140728941	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:140728941C>T	ENST00000460843.1	+	26	3708	c.3681C>T	c.(3679-3681)ttC>ttT	p.F1227F		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1227	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TCGCCTTCTTCAGCACCCGCC	0.697000													7	39					0	0	0.000274275	0	0
OR10A6	390093	broad.mit.edu	37	11	7950003	7950003	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:7950003C>T	ENST00000309838.2	-	1	206	c.207G>A	c.(205-207)gtG>gtA	p.V69V		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AACTCAGGTCCACCACAGATA	0.443000													19	25					0	0	0.00152264	0	0
PTPRK	5796	broad.mit.edu	37	6	128298072	128298072	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:128298072G>A	ENST00000368227.3	-	27	4256	c.3890C>T	c.(3889-3891)tCc>tTc	p.S1297F	PTPRK_ENST00000368213.5_Missense_Mutation_p.S1286F|PTPRK_ENST00000368215.3_Missense_Mutation_p.S1279F|PTPRK_ENST00000368207.3_Missense_Mutation_p.S1312F|PTPRK_ENST00000368210.3_Missense_Mutation_p.S1298F|PTPRK_ENST00000368226.4_Missense_Mutation_p.S1280F|PTPRK_ENST00000532331.1_Missense_Mutation_p.S1302F			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1279	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATTAACCTGGGACAAGTCGAC	0.358000													7	13					0	0	0.000274275	0	0
TNXB	7148	broad.mit.edu	37	6	32036660	32036660	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:32036660C>T	ENST00000375244.3	-	16	6042	c.5841G>A	c.(5839-5841)gtG>gtA	p.V1947V	TNXB_ENST00000375247.2_Silent_p.V1947V			P22105	TENX_HUMAN	tenascin XB	2029					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CATACAGGGTCACCAGGTATC	0.542000													124	147					0	0	0.000781405	0	0
DPY19L4	286148	broad.mit.edu	37	8	95800237	95800237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:95800237G>A	ENST00000414645.2	+	18	2063	c.1964G>A	c.(1963-1965)aGa>aAa	p.R655K		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	655						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					GGACCCATGAGAGGCTGTAGG	0.323000													130	296					0	0	0.000781405	0	0
ARID1B	57492	broad.mit.edu	37	6	157488186	157488186	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:157488186C>A	ENST00000346085.5	+	10	2893	c.2892C>A	c.(2890-2892)ttC>ttA	p.F964L	ARID1B_ENST00000275248.4_Missense_Mutation_p.F893L|ARID1B_ENST00000350026.5_Missense_Mutation_p.F951L|ARID1B_ENST00000367148.1_Missense_Mutation_p.F951L|ARID1B_ENST00000478761.1_3'UTR	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	951					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AAGGCAGTTTCCCCGGCATGA	0.522000													69	96					1.42954e-44	5.31239e-44	0.000781405	1	0
C3orf84	646498	broad.mit.edu	37	3	49215944	49215944	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:49215944T>C	ENST00000545770.2	-	3	255	c.169A>G	c.(169-171)Aag>Gag	p.K57E	C3orf84_ENST00000432035.2_Missense_Mutation_p.K57E|C3orf84_ENST00000443990.1_5'UTR	NM_001080528.2	NP_001073997.2			chromosome 3 open reading frame 84																		TTGTCGTGCTTGGAGAAGAAG	0.517000													12	41					0	0	0.000422831	0	0
CCT6A	908	broad.mit.edu	37	7	56126106	56126106	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:56126106C>T	ENST00000275603.4	+	7	996	c.777C>T	c.(775-777)ctC>ctT	p.L259L	CCT6A_ENST00000335503.3_Silent_p.L214L|CCT6A_ENST00000540286.1_Silent_p.L228L	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	259					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGAAAAACTCGTGAAAGCTG	0.313000													13	70					0	0	0.00244969	0	0
BRD4	23476	broad.mit.edu	37	19	15350470	15350470	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:15350470G>A	ENST00000263377.2	-	16	3666	c.3445_splice	c.e16+1	p.R1149_splice		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1149					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GAGCACTCACGCTGGGGCAGG	0.701000			T	C15orf55	lethal midline carcinoma of young people								40	40					0	0	0.00195071	0	0
LGR5	8549	broad.mit.edu	37	12	71946912	71946912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:71946912C>T	ENST00000266674.5	+	5	799	c.488C>T	c.(487-489)tCc>tTc	p.S163F	LGR5_ENST00000540815.2_Missense_Mutation_p.S163F|LGR5_ENST00000536515.1_Intron			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	163						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GGCCTGCATTCCCTGAGGCAC	0.507000													93	228					0	0	0.000781405	0	0
OR4M1	441670	broad.mit.edu	37	14	20249337	20249337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:20249337C>T	ENST00000315957.4	+	1	937	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTACTTAATCCCATTATTTA	0.368000													10	35					0	0	0.000442599	0	0
PKD1L2	114780	broad.mit.edu	37	16	81151065	81151065	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:81151065G>A	ENST00000534142.1	-	0	1071				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGCTGGCCAGGATGATGGCCA	0.612000													27	66					0	0	0.00209593	0	0
PPP6R3	55291	broad.mit.edu	37	11	68341637	68341637	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:68341637C>T	ENST00000393799.2	+	13	1671	c.1404C>T	c.(1402-1404)atC>atT	p.I468I	PPP6R3_ENST00000529710.1_Silent_p.I417I|PPP6R3_ENST00000527403.2_Silent_p.I468I|PPP6R3_ENST00000524904.1_Silent_p.I468I|PPP6R3_ENST00000524845.1_Silent_p.I468I|PPP6R3_ENST00000393800.2_Silent_p.I468I|PPP6R3_ENST00000393801.3_Silent_p.I468I|PPP6R3_ENST00000534534.1_Silent_p.I236I|PPP6R3_ENST00000265636.5_Silent_p.I417I|PPP6R3_ENST00000265637.4_Silent_p.I468I			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	468					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						CTAACTGTATCGTGCACAGCA	0.448000													18	22					0	0	0.000958276	0	0
USP6	9098	broad.mit.edu	37	17	5066201	5066201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:5066201G>A	ENST00000574788.1	+	33	5168	c.2938G>A	c.(2938-2940)Gat>Aat	p.D980N	USP6_ENST00000250066.6_Missense_Mutation_p.D980N|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.D663N			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	980					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTGTAAAATTGATTGTGGGGA	0.393000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								115	7					0	0	0.000781405	0	0
CREBRF	153222	broad.mit.edu	37	5	172517681	172517681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:172517681C>T	ENST00000540014.1	+	4	818	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S	CREBRF_ENST00000296953.2_Missense_Mutation_p.P167S|CREBRF_ENST00000522692.1_Missense_Mutation_p.P167S|CREBRF_ENST00000520420.1_Missense_Mutation_p.P167S			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	167							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										CAAACAAAATCCCTTACCCTC	0.433000													17	24					0	0	0.000566183	0	0
OR8B3	390271	broad.mit.edu	37	11	124267101	124267101	+	Silent	SNP	G	G	A	rs140121900	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:124267101G>A	ENST00000354597.3	-	1	163	c.147C>T	c.(145-147)ttC>ttT	p.F49F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AATTTAGACCGAAAAGAATGA	0.418000													12	13					0	0	0.00185496	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141207	143141207	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:143141207G>A	ENST00000332690.1	+	1	662	c.662G>A	c.(661-663)gGa>gAa	p.G221E	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	221					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					ACATCTCTGGGAAGACACAGG	0.458000													47	74					0	0	0.000781405	0	0
ZNF560	147741	broad.mit.edu	37	19	9577548	9577548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9577548G>A	ENST00000301480.4	-	10	2288	c.2075C>T	c.(2074-2076)tCc>tTc	p.S692F		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ATTTCGAAAGGAATTTCCACA	0.378000													35	117					0	0	0.00111076	0	0
ZNF883	169834	broad.mit.edu	37	9	115760208	115760208	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:115760208G>A	ENST00000427548.1	-	0	1605							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										ATTTCTAAGGGATGACCTATG	0.383000													16	49					0	0	0.000308642	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375518	93375518	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:93375518T>G	ENST00000375765.3	-	2	980	c.592A>C	c.(592-594)Atc>Ctc	p.I198L		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	198					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						CTTCACATGATCACGCACTTG	0.562000													20	87					0	0	0.00188189	0	0
CHIA	27159	broad.mit.edu	37	1	111862931	111862931	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:111862931G>A	ENST00000369740.1	+	12	1377	c.1274G>A	c.(1273-1275)gGa>gAa	p.G425E	CHIA_ENST00000451398.2_Missense_Mutation_p.G264E|CHIA_ENST00000343320.6_Missense_Mutation_p.G425E|CHIA_ENST00000483391.1_Missense_Mutation_p.G264E|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000430615.1_Missense_Mutation_p.G317E|CHIA_ENST00000353665.6_Missense_Mutation_p.G264E	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	425					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GGCAGCTCGGGAGGCAGTGGA	0.597000													8	64					0	0	0.000442599	0	0
DNM3	26052	broad.mit.edu	37	1	172277953	172277953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:172277953G>A	ENST00000358155.4	+	16	2031	c.1855G>A	c.(1855-1857)Gct>Act	p.A619T	DNM3_ENST00000520906.1_Missense_Mutation_p.A619T|DNM3_ENST00000355305.5_Missense_Mutation_p.A629T|DNM3_ENST00000367731.1_Missense_Mutation_p.A619T	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	629	PH.				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCTACTAAGAGCTGGGGTCTA	0.368000													8	49					0	0	0.000157383	0	0
BEND3	57673	broad.mit.edu	37	6	107390646	107390646	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:107390646G>A	ENST00000429433.2	-	5	2398	c.1749C>T	c.(1747-1749)ccC>ccT	p.P583P	BEND3_ENST00000369042.1_Silent_p.P583P	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	583	BEN 3.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						TGAAGAGCTCGGGGAACAGGT	0.632000													25	32					0	0	0.00106085	0	0
CP	1356	broad.mit.edu	37	3	148928053	148928053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:148928053C>T	ENST00000264613.6	-	3	770	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	170	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTGCCATCTCCTTCCCCAGGA	0.408000													28	63					0	0	0.000878237	0	0
CSHL1	1444	broad.mit.edu	37	17	61987521	61987521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:61987521C>T	ENST00000450719.3	-	3	427	c.190G>A	c.(190-192)Gtg>Atg	p.V64M	CSHL1_ENST00000309894.5_Splice_Site|CSHL1_ENST00000259003.10_Splice_Site|CSHL1_ENST00000561003.1_Missense_Mutation_p.V75M|CSHL1_ENST00000346606.6_Splice_Site|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000438387.2_Splice_Site|CSHL1_ENST00000392824.4_3'UTR			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						GCCACCCTCACCCCCATCAGC	0.577000													18	80					0	0	0.000958276	0	0
NAV1	89796	broad.mit.edu	37	1	201786325	201786325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:201786325C>T	ENST00000367296.4	+	29	5870	c.5450C>T	c.(5449-5451)cCc>cTc	p.P1817L	NAV1_ENST00000367302.1_Missense_Mutation_p.P1770L|NAV1_ENST00000367295.1_Missense_Mutation_p.P1423L|IPO9-AS1_ENST00000421449.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.P1757L|NAV1_ENST00000295624.6_Missense_Mutation_p.P1814L|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.P1809L	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1817					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CTGCCCCCACCCACCGTGGGC	0.582000													11	57					0	0	0.000673444	0	0
OBSCN	84033	broad.mit.edu	37	1	228456260	228456260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:228456260C>T	ENST00000570156.2	+	19	5517	c.5443C>T	c.(5443-5445)Cca>Tca	p.P1815S	OBSCN_ENST00000359599.6_Missense_Mutation_p.P287S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.P1631S|OBSCN_ENST00000284548.11_Missense_Mutation_p.P1631S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	802	Ig-like 18.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAAGGAGCAGCCAGCACACAG	0.627000													22	25					0	0	0.0024448	0	0
BEND3	57673	broad.mit.edu	37	6	107391958	107391958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:107391958G>A	ENST00000429433.2	-	5	1086	c.437C>T	c.(436-438)tCg>tTg	p.S146L	BEND3_ENST00000369042.1_Missense_Mutation_p.S146L	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	146								p.S146L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CAGGTCCCCCGAGGGAGGATT	0.572000													37	52					0	0	0.00195071	0	0
CAMK1	8536	broad.mit.edu	37	3	9804897	9804897	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:9804897C>T	ENST00000256460.3	-	4	393	c.215_splice	c.e4-1	p.K72_splice	OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302008.8_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	72	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GGTGCTTGATCCTGAAAGGAG	0.562000													27	93					0	0	0.00283554	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332244	100332244	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:100332244C>T	ENST00000341853.1	-	0	1947					NR_003260.1																						GCAGCGGTCCCAGCCCCAGTG	0.647000													5	17					0	0	0.000602214	0	0
ACACB	32	broad.mit.edu	37	12	109694020	109694020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:109694020C>T	ENST00000338432.7	+	45	6361	c.6242C>T	c.(6241-6243)aCc>aTc	p.T2081I	ACACB_ENST00000377854.5_Missense_Mutation_p.T2011I|ACACB_ENST00000377848.3_Missense_Mutation_p.T2081I|ACACB_ENST00000543201.1_Missense_Mutation_p.T747I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2081	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGGGCGCAGACCGTGGTGACA	0.597000													6	38					0	0	0.00198382	0	0
LCE2C	353140	broad.mit.edu	37	1	152648570	152648570	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:152648570A>G	ENST00000368783.1	+	2	134	c.79A>G	c.(79-81)Aag>Gag	p.K27E	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	27	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			atgtccacctaagtgtccccc	0.582000													36	76					0	0	0.000814825	0	0
ADSSL1	122622	broad.mit.edu	37	14	105207213	105207213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:105207213C>T	ENST00000332972.5	+	7	910	c.751C>T	c.(751-753)Ccc>Tcc	p.P251S	ADSSL1_ENST00000330877.2_Missense_Mutation_p.P208S	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	208					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GTCGATGTTCCCCACCCTGGA	0.597000													53	155					0	0	0.000781405	0	0
CELA3B	23436	broad.mit.edu	37	1	22310198	22310198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:22310198C>T	ENST00000337107.6	+	5	393	c.374C>T	c.(373-375)gCc>gTc	p.A125V		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	125	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						AATGACATCGCCCTCATCAAG	0.647000													17	70					0	0	0.00188189	0	0
DGKI	9162	broad.mit.edu	37	7	137531208	137531208	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:137531208C>T	ENST00000424189.2	-	1	630	c.401_splice	c.e1+1	p.R134_splice	DGKI_ENST00000453654.1_5'UTR|DGKI_ENST00000288490.5_Splice_Site_p.R134_splice|DGKI_ENST00000446122.1_Splice_Site_p.R134_splice			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	134					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCGCACCTACCTGTACGAGAC	0.672000													7	42					0	0	0.000274275	0	0
SIK1	150094	broad.mit.edu	37	21	44837465	44837465	+	Missense_Mutation	SNP	C	C	T	rs34614061		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:44837465C>T	ENST00000270162.6	-	13	2066	c.1934G>A	c.(1933-1935)cGg>cAg	p.R645Q		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	645					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CCAGCCCTCCCGGCTGCCGGC	0.751000													7	22					0	0	0.00198382	0	0
KCNH4	23415	broad.mit.edu	37	17	40321537	40321537	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:40321537G>A	ENST00000264661.3	-	9	1880	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	KCNH4_ENST00000607371.1_Silent_p.F516F	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	516					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACGTGGTCTGGAAGTATTCGA	0.657000													19	55					0	0	0.00278032	0	0
CLEC4D	338339	broad.mit.edu	37	12	8671697	8671697	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:8671697G>A	ENST00000299665.2	+	4	518	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	109	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GGCTGAGAGTGAAAGGAACTG	0.512000													17	18					0	0	0.000566183	0	0
WNK3	65267	broad.mit.edu	37	X	54259292	54259292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:54259292C>T	ENST00000354646.2	-	21	5228	c.4790G>A	c.(4789-4791)cGa>cAa	p.R1597Q	WNK3_ENST00000375159.2_Missense_Mutation_p.R1597Q|WNK3_ENST00000375169.3_Missense_Mutation_p.R1550Q	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1550					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGGGCGGCTTCGAAGTTTGCT	0.418000													45	50					0	0	0.000781405	0	0
FBN1	2200	broad.mit.edu	37	15	48704789	48704789	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:48704789C>T	ENST00000316623.5	-	65	8658	c.8203G>A	c.(8203-8205)Gaa>Aaa	p.E2735K	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2735					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCATCAGTTTCGTTTGTGCTT	0.498000													43	21					0	0	0.00222228	0	0
EFCAB12	90288	broad.mit.edu	37	3	129140478	129140478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:129140478G>A	ENST00000505956.1	-	2	380	c.218C>T	c.(217-219)cCt>cTt	p.P73L	EFCAB12_ENST00000326085.3_Missense_Mutation_p.P73L	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		TTGGGATGCAGGATTAAGGGG	0.572000													12	30					0	0	0.00185496	0	0
HMCN1	83872	broad.mit.edu	37	1	186014931	186014931	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:186014931A>G	ENST00000271588.4	+	41	6645	c.6416A>G	c.(6415-6417)aAa>aGa	p.K2139R	HMCN1_ENST00000367492.2_Missense_Mutation_p.K2139R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2139	Ig-like C2-type 19.				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						ACTTGGTTAAAAGACGGCCAC	0.393000													34	28					0	0	0.0024448	0	0
PDCD11	22984	broad.mit.edu	37	10	105174058	105174058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:105174058C>T	ENST00000369797.3	+	11	1436	c.1342C>T	c.(1342-1344)Cat>Tat	p.H448Y		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	448					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCTTAGATATCATGACATCGA	0.438000													8	15					0	0	0.000442599	0	0
PPM1H	57460	broad.mit.edu	37	12	63225927	63225927	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:63225927G>A	ENST00000228705.6	-	2	678	c.378C>T	c.(376-378)ccC>ccT	p.P126P		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	126							phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CTTCCCCATTGGGAAGGGAGG	0.552000													23	10					0	0	0.00106085	0	0
TEC	7006	broad.mit.edu	37	4	48147207	48147207	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:48147207G>A	ENST00000381501.3	-	14	1516	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	453	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TCTGTCGGAGGAAATTCAGAA	0.473000													29	64					0	0	0.00127121	0	0
SYCP2L	221711	broad.mit.edu	37	6	10894142	10894142	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:10894142C>T	ENST00000283141.6	+	3	417	c.121C>T	c.(121-123)Cag>Tag	p.Q41*	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_5'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	41						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TAAAGGATTTCAGAAAATAAA	0.308000													30	8					0	0	0.00178596	0	0
XIRP2	129446	broad.mit.edu	37	2	168105146	168105146	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:168105146A>T	ENST00000409195.1	+	9	7333	c.7244A>T	c.(7243-7245)aAa>aTa	p.K2415I	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K2193I|XIRP2_ENST00000295237.9_Missense_Mutation_p.K2415I|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2240					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						ATAACAGGAAAAACCGGTGTG	0.438000													12	55					0	0	0.00136819	0	0
CSMD2	114784	broad.mit.edu	37	1	34180194	34180194	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:34180194C>T	ENST00000373381.4	-	21	3575	c.3399G>A	c.(3397-3399)agG>agA	p.R1133R		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1093	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TACCAACACACCTTGGCAGAG	0.597000													124	163					0	0	0.000781405	0	0
ALKBH2	121642	broad.mit.edu	37	12	109527987	109527987	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:109527987G>A	ENST00000429722.2	-	3	669	c.306C>T	c.(304-306)ttC>ttT	p.F102F	ALKBH2_ENST00000440112.2_Intron|ALKBH2_ENST00000343075.3_Silent_p.F102F	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	102	Substrate binding.				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	GCCACTTCCCGAATACCTGGA	0.582000								Direct reversal of damage					30	20					0	0	0.0024448	0	0
FADS3	3995	broad.mit.edu	37	11	61645658	61645658	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:61645658G>A	ENST00000540820.1	-	6	849	c.777C>T	c.(775-777)ccC>ccT	p.P259P	FADS3_ENST00000527697.1_Silent_p.P135P|FADS3_ENST00000278829.2_Silent_p.P259P|FADS3_ENST00000525588.1_Silent_p.P231P			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	259					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCTGGTTGTAGGGTAGGTATC	0.612000													24	28					0	0	0.00127121	0	0
LAMA1	284217	broad.mit.edu	37	18	7050746	7050746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:7050746C>T	ENST00000389658.3	-	4	628	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	179	Laminin N-terminal.				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			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)	CAGATCACTTCATCATCAGCC	0.507000													13	65					0	0	0.00136819	0	0
DYSF	8291	broad.mit.edu	37	2	71894640	71894640	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:71894640G>A	ENST00000258104.3	+	47	5612	c.5335G>A	c.(5335-5337)Gag>Aag	p.E1779K	DYSF_ENST00000413539.2_Missense_Mutation_p.E1810K|DYSF_ENST00000409582.3_Missense_Mutation_p.E1817K|DYSF_ENST00000410020.3_Missense_Mutation_p.E1818K|DYSF_ENST00000410041.1_Missense_Mutation_p.E1797K|DYSF_ENST00000409744.1_Missense_Mutation_p.E1787K|DYSF_ENST00000409762.1_Missense_Mutation_p.E1796K|DYSF_ENST00000409651.1_Missense_Mutation_p.E1811K|DYSF_ENST00000429174.2_Missense_Mutation_p.E1800K|DYSF_ENST00000409366.1_Missense_Mutation_p.E1801K|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Missense_Mutation_p.E1780K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1779						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCCAGACATCGAGCAGGTAGG	0.632000													9	30					0	0	0.000274275	0	0
NGEF	25791	broad.mit.edu	37	2	233835021	233835021	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:233835021T>A	ENST00000264051.3	-	3	564	c.286A>T	c.(286-288)Aaa>Taa	p.K96*		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	96	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TTTACAGATTTTCCATTGTCC	0.463000													28	66					0	0	0.00178596	0	0
SSH3	54961	broad.mit.edu	37	11	67077398	67077398	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:67077398C>T	ENST00000308127.4	+	12	1546	c.1368C>T	c.(1366-1368)ttC>ttT	p.F456F	SSH3_ENST00000376757.5_Silent_p.F456F|SSH3_ENST00000308298.7_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	456	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			ACCCTGGCTTCCTGCGCCAGC	0.662000													18	21					0	0	0.000566183	0	0
OR6B1	135946	broad.mit.edu	37	7	143701136	143701136	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:143701136G>A	ENST00000408922.2	+	1	115	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					ATTCTGGTGGGATTCCCTGGG	0.478000													15	37					0	0	0.000308642	0	0
EFCAB3	146779	broad.mit.edu	37	17	60493450	60493450	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:60493450G>A	ENST00000450662.2	+	12	1304	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G	EFCAB3_ENST00000305286.3_Silent_p.G359G	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	359							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AGATCCGAGGGGATTTGATTG	0.423000													29	101					0	0	0.00106085	0	0
INPP5A	3632	broad.mit.edu	37	10	134463968	134463968	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:134463968G>T	ENST00000368594.3	+	4	542	c.265G>T	c.(265-267)Gtc>Ttc	p.V89F	INPP5A_ENST00000368593.3_Missense_Mutation_p.V89F	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	89					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CAGGGCTCGAGTCTACCTGGA	0.532000													56	186					1.72039e-30	6.38421e-30	0.000781405	1	0
MIOS	54468	broad.mit.edu	37	7	7645580	7645580	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:7645580C>T	ENST00000340080.4	+	12	2830	c.2409C>T	c.(2407-2409)acC>acT	p.T803T	MIOS_ENST00000405785.1_Silent_p.T803T	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	803										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TAGGAGGAACCAAATCAGATG	0.318000													22	7					0	0	0.00152264	0	0
CCL5	6352	broad.mit.edu	37	17	34199381	34199381	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:34199381C>T	ENST00000293272.3	-	3	478	c.276G>A	c.(274-276)taG>taA	p.*92*	AC015849.2_ENST00000413928.1_RNA|CCL5_ENST00000366113.3_Silent_p.*92*	NM_002985.2	NP_002976.2	P13501	CCL5_HUMAN	chemokine (C-C motif) ligand 5	0					activation of phospholipase D activity|cell-cell signaling|cellular protein complex assembly|chemokine-mediated signaling pathway|dendritic cell chemotaxis|eosinophil chemotaxis|immune response|leukocyte cell-cell adhesion|macrophage chemotaxis|negative regulation of T cell apoptosis|negative regulation of viral genome replication|neutrophil activation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of homotypic cell-cell adhesion|positive regulation of innate immune response|positive regulation of macrophage chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of T cell apoptosis|positive regulation of T cell chemotaxis|positive regulation of T cell proliferation|positive regulation of translational initiation|positive regulation of tyrosine phosphorylation of STAT protein|positive regulation of viral genome replication|protein tetramerization|regulation of chronic inflammatory response|response to virus	extracellular space	CCR1 chemokine receptor binding|CCR4 chemokine receptor binding|CCR5 chemokine receptor binding|chemoattractant activity|chemokine activity|chemokine receptor antagonist activity|protein homodimerization activity|protein self-association|receptor signaling protein tyrosine kinase activator activity			breast(1)|kidney(1)|lung(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0183)		ACTCTCCATCCTAGCTCATCT	0.517000													46	33					0	0	0.000781405	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913437	77913437	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:77913437G>A	ENST00000321110.1	-	2	776	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	161	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						ATATTTGGGGGATCCTGGGGT	0.567000													31	1					0	0	0.00283554	0	0
LGR6	59352	broad.mit.edu	37	1	202287144	202287144	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:202287144C>T	ENST00000367278.3	+	18	1802	c.1713C>T	c.(1711-1713)atC>atT	p.I571I	LGR6_ENST00000439764.2_Silent_p.I432I|LGR6_ENST00000255432.7_Silent_p.I519I	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	571						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGTGGGCCATCGTGTTGCTCT	0.612000													25	132					0	0	0.000586117	0	0
ABCG1	9619	broad.mit.edu	37	21	43702436	43702436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:43702436C>T	ENST00000398437.1	+	7	1227	c.1079C>T	c.(1078-1080)aCc>aTc	p.T360I	ABCG1_ENST00000398457.2_Missense_Mutation_p.T216I|ABCG1_ENST00000343687.3_Missense_Mutation_p.T225I|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000340588.4_Missense_Mutation_p.T322I|ABCG1_ENST00000361802.2_Missense_Mutation_p.T214I|ABCG1_ENST00000347800.2_Missense_Mutation_p.T211I|ABCG1_ENST00000398449.3_Missense_Mutation_p.T214I			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	214					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	AACACGCGGACCGGGAGCCTG	0.612000													42	3					0	0	0.000680045	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192188	125192188	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:125192188C>T	ENST00000431078.1	+	5	1021	c.657C>T	c.(655-657)ttC>ttT	p.F219F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	219	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGGTCCTGTTCCATGGAGAAG	0.502000													20	17					0	0	0.00121646	0	0
DNMT3B	1789	broad.mit.edu	37	20	31394046	31394046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:31394046C>T	ENST00000328111.2	+	22	2654	c.2333C>T	c.(2332-2334)tCg>tTg	p.S778L	DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000201963.3_Missense_Mutation_p.S770L|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000353855.2_Missense_Mutation_p.S758L|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000344505.4_Intron	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	778					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACCACCAAGTCGAACTCGATC	0.448000													13	47					0	0	0.00185496	0	0
GPD1	2819	broad.mit.edu	37	12	50500608	50500608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:50500608G>A	ENST00000301149.3	+	5	752	c.520G>A	c.(520-522)Gga>Aga	p.G174R	GPD1_ENST00000548814.1_Missense_Mutation_p.G151R|GPD1_ENST00000547190.1_3'UTR	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	174					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	CCCGGCCCAGGGACAACTCCT	0.483000													16	38					0	0	0.00121646	0	0
SRCAP	10847	broad.mit.edu	37	16	30736199	30736199	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:30736199C>T	ENST00000262518.4	+	25	5839	c.5454C>T	c.(5452-5454)tcC>tcT	p.S1818S	SRCAP_ENST00000344771.4_Silent_p.S1660S|SRCAP_ENST00000395059.2_Silent_p.S1756S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1818	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ccccagcTTCCCAGGCATCTT	0.632000													13	31					0	0	0.00136819	0	0
NOC2L	26155	broad.mit.edu	37	1	888564	888564	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:888564G>A	ENST00000327044.6	-	9	1042	c.993C>T	c.(991-993)ccC>ccT	p.P331P		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	331						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCTTGAGGACGGGGCCAAGGA	0.607000													7	24					0	0	0.000157383	0	0
SZT2	23334	broad.mit.edu	37	1	43908610	43908610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:43908610C>T	ENST00000562955.1	+	58	8101	c.8101C>T	c.(8101-8103)Ccc>Tcc	p.P2701S	SZT2_ENST00000372442.1_Missense_Mutation_p.P1859S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2758						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGGTCCTCTTCCCCTGGACAC	0.642000													33	31					0	0	0.0024448	0	0
ELN	2006	broad.mit.edu	37	7	73483003	73483003	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:73483003G>A	ENST00000252034.7	+	33	2547	c.2148G>A	c.(2146-2148)ggG>ggA	p.G716G	ELN_ENST00000357036.5_Silent_p.G703G|ELN_ENST00000414324.1_Silent_p.G692G|ELN_ENST00000380584.4_Silent_p.G650G|ELN_ENST00000380575.4_Silent_p.G669G|ELN_ENST00000380576.5_Silent_p.G697G|ELN_ENST00000358929.4_Silent_p.G784G|ELN_ENST00000380562.4_Silent_p.G722G|ELN_ENST00000380553.4_Silent_p.G562G|ELN_ENST00000320399.6_Silent_p.G749G|ELN_ENST00000320492.7_Silent_p.G635G|ELN_ENST00000429192.1_Silent_p.G684G|ELN_ENST00000458204.1_Silent_p.G706G|ELN_ENST00000445912.1_Silent_p.G698G	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	778	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CCTGCCTGGGGAAAGCTTGTG	0.577000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						19	68					0	0	0.00188189	0	0
PLXNA4	91584	broad.mit.edu	37	7	131831286	131831286	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:131831286G>A	ENST00000359827.3	-	28	6000	c.5038C>T	c.(5038-5040)Cga>Tga	p.R1680*	PLXNA4_ENST00000321063.4_Nonsense_Mutation_p.R1680*			Q9HCM2	PLXA4_HUMAN	plexin A4	1680						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCCAGGAGTCGGGTCAGGTAG	0.567000													84	238					0	0	0.000781405	0	0
RNMT	8731	broad.mit.edu	37	18	13742548	13742548	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:13742548C>T	ENST00000383314.2	+	8	1276	c.1036C>T	c.(1036-1038)Cag>Tag	p.Q346*	RNMT_ENST00000589866.1_Nonsense_Mutation_p.Q346*|RNMT_ENST00000262173.3_Nonsense_Mutation_p.Q346*|RNMT_ENST00000543302.2_Nonsense_Mutation_p.Q346*|RNMT_ENST00000592764.1_Nonsense_Mutation_p.Q346*|RNMT_ENST00000535051.1_Nonsense_Mutation_p.Q104*			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	346					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						TGTGAAATTTCAGAAGAAAGG	0.338000													28	116					0	0	0.000720815	0	0
OBSCN	84033	broad.mit.edu	37	1	228402506	228402506	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:228402506C>T	ENST00000570156.2	+	5	1609	c.1535C>T	c.(1534-1536)cCc>cTc	p.P512L	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.P512L|OBSCN_ENST00000284548.11_Missense_Mutation_p.P512L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	512	Fibronectin type-III 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGAAGCCTCCCCTGCAACCC	0.612000													4	20					0	0	0.000602214	0	0
CHSY1	22856	broad.mit.edu	37	15	101718740	101718740	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:101718740T>C	ENST00000254190.3	-	3	1737	c.1262A>G	c.(1261-1263)aAg>aGg	p.K421R	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	421					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCTCTGGTCTTGGCGTTGGC	0.572000													28	42					0	0	0.00209593	0	0
GRIK4	2900	broad.mit.edu	37	11	120833374	120833374	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:120833374G>A	ENST00000527524.2	+	18	2537	c.2250G>A	c.(2248-2250)ggG>ggA	p.G750G	GRIK4_ENST00000438375.2_Silent_p.G750G			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	750					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	AGGGCTATGGGATTGGCATGC	0.537000													14	31					0	0	0.00152264	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393508	145393508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:145393508C>T	ENST00000511217.1	+	4	995	c.943C>T	c.(943-945)Cct>Tct	p.P315S	SH3RF2_ENST00000359120.4_Missense_Mutation_p.P315S			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	315							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTCCATTCTCCTTCAGGGCG	0.577000													43	30					0	0	0.000781405	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138844	126138844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:126138844C>T	ENST00000299308.3	+	9	2833	c.2825C>T	c.(2824-2826)tCc>tTc	p.S942F	TMEM132B_ENST00000535886.1_Missense_Mutation_p.S454F	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	942						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ATCCCCCATTCCCACGACTGG	0.512000													23	58					0	0	0.000586117	0	0
ACSM4	341392	broad.mit.edu	37	12	7459334	7459334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:7459334G>A	ENST00000399422.4	+	2	455	c.407G>A	c.(406-408)cGa>cAa	p.R136Q		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	136					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GCTTGCATACGAACAGGTCAG	0.463000													5	10					0	0	0.00116845	0	0
CRLF1	9244	broad.mit.edu	37	19	18707711	18707711	+	Silent	SNP	C	C	T	rs137853928		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:18707711C>T	ENST00000392386.3	-	5	1039	c.846G>A	c.(844-846)gtG>gtA	p.V282V		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	282	Fibronectin type-III 2.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CCTTCCAGTCCACACTGTCCT	0.637000													13	53					0	0	0.00136819	0	0
SLC6A11	6538	broad.mit.edu	37	3	10953791	10953791	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:10953791G>A	ENST00000254488.2	+	7	974	c.908G>A	c.(907-909)gGa>gAa	p.G303E		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	303					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GTAGATGCTGGAACGCAGATC	0.488000													69	160					0	0	0.000781405	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652699	121652699	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:121652699C>T	ENST00000393386.2	+	12	4010	c.3599C>T	c.(3598-3600)cCa>cTa	p.P1200L	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1200					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTGTTCTTCCAGCTGTGCCC	0.378000													108	82					0	0	0.000781405	0	0
MYH4	4622	broad.mit.edu	37	17	10358326	10358326	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:10358326G>A	ENST00000255381.2	-	21	2477	c.2367C>T	c.(2365-2367)atC>atT	p.I789I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	789	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GAGTGCGCGTGATGAGTTGAG	0.458000													22	29					0	0	0.00229938	0	0
SRD5A1	6715	broad.mit.edu	37	5	6633926	6633926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:6633926C>T	ENST00000537411.1	+	1	387	c.263C>T	c.(262-264)tCc>tTc	p.S88F	SRD5A1_ENST00000504286.1_3'UTR|SRD5A1_ENST00000538824.1_Missense_Mutation_p.S88F|SRD5A1_ENST00000274192.5_Silent_p.L79L			P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	0					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity	p.L79L(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	CCCCGCGTCTCCGCAGCGCGC	0.736000													7	37					0	0	0.000274275	0	0
CFH	3075	broad.mit.edu	37	1	196642210	196642210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:196642210C>T	ENST00000367429.4	+	2	401	c.161C>T	c.(160-162)cCt>cTt	p.P54L	CFH_ENST00000439155.2_Missense_Mutation_p.P54L|CFH_ENST00000359637.2_Missense_Mutation_p.P54L|CFH_ENST00000496761.1_3'UTR	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	54	Sushi 1.			RP -> IL (in Ref. 5; CAB41739).	complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAATGCCGCCCTGGATATAGA	0.403000													18	74					0	0	0.00074312	0	0
ITGA4	3676	broad.mit.edu	37	2	182376453	182376453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:182376453G>A	ENST00000397033.2	+	17	2303	c.1873G>A	c.(1873-1875)Gaa>Aaa	p.E625K		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	625					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TTGTGCCCATGAAAATTGTTC	0.299000													25	42					0	0	0.00127121	0	0
TBX5	6910	broad.mit.edu	37	12	114793644	114793644	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:114793644G>A	ENST00000310346.4	-	9	1916	c.1250C>T	c.(1249-1251)cCc>cTc	p.P417L	TBX5_ENST00000349716.5_Missense_Mutation_p.P367L|TBX5_ENST00000405440.2_Missense_Mutation_p.P417L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	417					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCTGTCCATGGGCTGCACGGT	0.662000													19	33					0	0	0.00074312	0	0
PSME2	5721	broad.mit.edu	37	14	24613200	24613200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:24613200G>A	ENST00000216802.5	-	9	1175	c.536C>T	c.(535-537)tCc>tTc	p.S179F	PSME2_ENST00000560410.1_Missense_Mutation_p.S168F|PSME2_ENST00000471700.2_Intron	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	179					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		AGTCTCCTTGGAGGCCTTGGC	0.537000													45	101					0	0	0.000781405	0	0
CASKIN2	57513	broad.mit.edu	37	17	73503700	73503700	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:73503700T>A	ENST00000321617.3	-	4	795	c.209A>T	c.(208-210)gAg>gTg	p.E70V	CASKIN2_ENST00000433559.2_5'UTR|CASKIN2_ENST00000581870.1_Missense_Mutation_p.E70V	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	70						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCCTGAGCCTCTAGCAGCAA	0.622000													41	13					0	0	0.000781405	0	0
IL1F10	84639	broad.mit.edu	37	2	113831960	113831960	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:113831960G>A	ENST00000393197.2	+	2	508	c.87G>A	c.(85-87)gtG>gtA	p.V29V	IL1F10_ENST00000337569.3_Intron|IL1F10_ENST00000341010.2_Silent_p.V29V	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	29						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						AGCTGCTGGTGGGAGATCCTG	0.522000													8	44					0	0	0.000442599	0	0
DPYSL4	10570	broad.mit.edu	37	10	134014413	134014413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:134014413G>A	ENST00000338492.4	+	10	1200	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	DPYSL4_ENST00000368629.1_Missense_Mutation_p.D246N|DPYSL4_ENST00000368627.1_Missense_Mutation_p.D246N	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	346					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TGTGGGCAAGGACAACTTCGC	0.647000													15	41					0	0	0.000308642	0	0
RGS7BP	401190	broad.mit.edu	37	5	63890555	63890555	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:63890555G>A	ENST00000334025.2	+	4	808	c.482G>A	c.(481-483)gGa>gAa	p.G161E		NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	161					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CCTGGCGGGGGAACCAAGAGT	0.478000													12	34					0	0	0.000422831	0	0
DDI1	414301	broad.mit.edu	37	11	103908105	103908105	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:103908105G>A	ENST00000302259.3	+	1	798	c.555G>A	c.(553-555)gaG>gaA	p.E185E	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	185					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TGCTGATGGAGCAGCAAAGGG	0.567000													21	30					0	0	0.00152264	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255455	15255455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:15255455G>A	ENST00000378116.4	-	8	2138	c.2132C>T	c.(2131-2133)tCc>tTc	p.S711F		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	711						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCCATCCAAGGAGACGAACCA	0.552000													29	36					0	0	0.00178596	0	0
ZC3H18	124245	broad.mit.edu	37	16	88689680	88689680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:88689680C>T	ENST00000301011.5	+	10	1921	c.1721C>T	c.(1720-1722)tCc>tTc	p.S574F	ZC3H18_ENST00000452588.2_Missense_Mutation_p.S598F	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	574	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CGGTCGCGATCCCGGTCTTCA	0.662000													8	27					0	0	0.000442599	0	0
FGFR1	2260	broad.mit.edu	37	8	38287320	38287320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:38287320G>A	ENST00000447712.2	-	3	1179	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	FGFR1_ENST00000532791.1_Missense_Mutation_p.R80C|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000397108.4_Missense_Mutation_p.R80C|FGFR1_ENST00000335922.5_Missense_Mutation_p.R72C|FGFR1_ENST00000356207.5_Intron|FGFR1_ENST00000397091.5_Missense_Mutation_p.R80C|FGFR1_ENST00000397113.2_Missense_Mutation_p.R80C|FGFR1_ENST00000425967.3_Missense_Mutation_p.R113C|FGFR1_ENST00000341462.5_Missense_Mutation_p.R80C|FGFR1_ENST00000326324.6_Intron	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	80	Ig-like C2-type 1.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CCTGTGATGCGGGTGCGGTTG	0.667000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						5	10					0	0	0.00116845	0	0
DNAH5	1767	broad.mit.edu	37	5	13811764	13811764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:13811764G>A	ENST00000265104.4	-	44	7503	c.7399C>T	c.(7399-7401)Cct>Tct	p.P2467S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2467					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCTTCAGAGGAATCAGGCCT	0.403000									Kartagener syndrome				42	20					0	0	0.000781405	0	0
TTLL4	9654	broad.mit.edu	37	2	219602691	219602691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:219602691G>A	ENST00000392102.1	+	3	632	c.292G>A	c.(292-294)Ggc>Agc	p.G98S	TTLL4_ENST00000442769.1_Missense_Mutation_p.G98S|TTLL4_ENST00000457313.1_5'UTR|TTLL4_ENST00000258398.4_Missense_Mutation_p.G98S	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	98					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TGTCATTGCAGGCCACAGCAG	0.567000													33	89					0	0	0.0024448	0	0
CD5	921	broad.mit.edu	37	11	60889214	60889214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:60889214G>A	ENST00000347785.3	+	6	1103	c.937G>A	c.(937-939)Gag>Aag	p.E313K		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	313	SRCR 3.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		GCTGCGGTGGGAGGAGGTGTG	0.657000													11	17					0	0	0.000978159	0	0
LRFN2	57497	broad.mit.edu	37	6	40399839	40399839	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:40399839G>A	ENST00000338305.6	-	2	1556	c.1014C>T	c.(1012-1014)gtC>gtT	p.V338V		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	338	Ig-like.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CATTGTCATAGACAGCGGTCC	0.602000													15	20					0	0	0.00244969	0	0
FAIM2	23017	broad.mit.edu	37	12	50291358	50291358	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:50291358G>A	ENST00000320634.3	-	4	418	c.324C>T	c.(322-324)acC>acT	p.T108T	FAIM2_ENST00000550890.1_Silent_p.T62T	NM_012306.3	NP_036438.2	Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2	108					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						TCAGCAGGATGGTGTAGACCT	0.592000													8	28					0	0	0.000442599	0	0
DLG5	9231	broad.mit.edu	37	10	79603373	79603373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:79603373G>A	ENST00000372391.2	-	6	961	c.956C>T	c.(955-957)gCc>gTc	p.A319V	DLG5_ENST00000372388.2_Missense_Mutation_p.A319V	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	319					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTTCCGAAGGGCGTCATAGTC	0.552000													34	42					0	0	0.000953801	0	0
DEFB132	400830	broad.mit.edu	37	20	238422	238422	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:238422G>A	ENST00000382376.3	+	1	46	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_207469.2	NP_997352.1	Q7Z7B7	DB132_HUMAN	defensin, beta 132	1					defense response to bacterium	extracellular region				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						CTTCAGCCATGAAGTTCCTGC	0.522000													6	13					0	0	0.000157383	0	0
BAI1	575	broad.mit.edu	37	8	143569868	143569868	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:143569868G>A	ENST00000517894.1	+	14	3346	c.2452_splice	c.e14+1	p.E818_splice	BAI1_ENST00000323289.5_Splice_Site_p.E818_splice			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	818					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGGGCTGACAGGTGAGGGGCC	0.652000													7	38					0	0	0.000442599	0	0
HOXD10	3236	broad.mit.edu	37	2	176982051	176982051	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:176982051C>A	ENST00000249501.4	+	1	745	c.490C>A	c.(490-492)Caa>Aaa	p.Q164K	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	164						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CGGGAAAACCCAAGAGTACAA	0.587000													6	143					0.00116845	0.00427116	0.00116845	1	0
MMP19	4327	broad.mit.edu	37	12	56233443	56233443	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:56233443G>A	ENST00000322569.4	-	5	694	c.603C>T	c.(601-603)taC>taT	p.Y201Y	MMP19_ENST00000548629.1_Silent_p.Y178Y|MMP19_ENST00000409200.3_Intron	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	201					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						TCACCCCACGGTAGGTCCCCT	0.612000													4	16					0	0	0.000602214	0	0
CENPE	1062	broad.mit.edu	37	4	104067125	104067125	+	Missense_Mutation	SNP	C	C	T	rs113334734	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:104067125C>T	ENST00000265148.3	-	30	4363	c.4274G>A	c.(4273-4275)gGa>gAa	p.G1425E	CENPE_ENST00000380026.3_Missense_Mutation_p.G1400E	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1425					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTGGACAATCCGAGCATTTC	0.368000													32	99					0	0	0.0024448	0	0
RASAL1	8437	broad.mit.edu	37	12	113543663	113543663	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:113543663G>A	ENST00000546530.1	-	17	1974	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Silent_p.F561F|RASAL1_ENST00000548055.1_Silent_p.F562F|RASAL1_ENST00000261729.5_Silent_p.F561F	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	561					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CCGAGGGCGGGAACAGGGCCC	0.622000													22	60					0	0	0.00047179	0	0
SLC1A7	6512	broad.mit.edu	37	1	53553855	53553855	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:53553855G>A	ENST00000371494.4	-	11	1636	c.1509C>T	c.(1507-1509)atC>atT	p.I503I	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	503						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GGGCTGCCACGATCTCCTGGA	0.612000													8	21					0	0	0.000157383	0	0
SLC22A9	114571	broad.mit.edu	37	11	63149660	63149660	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:63149660G>A	ENST00000279178.3	+	6	1233	c.984G>A	c.(982-984)ctG>ctA	p.L328L	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	328					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AAAAAGAACTGGAGGCAGCAC	0.408000													18	28					0	0	0.000958276	0	0
LRRC36	55282	broad.mit.edu	37	16	67381445	67381445	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:67381445T>A	ENST00000329956.6	+	4	458	c.439T>A	c.(439-441)Ttt>Att	p.F147I	LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000563303.1_3'UTR|LRRC36_ENST00000563189.1_Missense_Mutation_p.F26I|LRRC36_ENST00000435835.3_Missense_Mutation_p.F26I|LRRC36_ENST00000290940.7_5'UTR	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	147										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CAAGCTGCATTTTAGTCAGTT	0.378000													29	52					0	0	0.00178596	0	0
NUCB1	4924	broad.mit.edu	37	19	49416799	49416799	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:49416799C>T	ENST00000405315.4	+	7	1069	c.735C>T	c.(733-735)ccC>ccT	p.P245P	NUCB1_ENST00000263273.5_Silent_p.P245P|NUCB1_ENST00000485798.1_Intron|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000407032.1_Silent_p.P245P	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	245	Binds to GNAI2 and GNAI3 (By similarity).|EF-hand 1.					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GGTTTAACCCCAAGACCTTCT	0.562000													35	33					0	0	0.000953801	0	0
WDR96	80217	broad.mit.edu	37	10	105938810	105938810	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:105938810C>T	ENST00000357060.3	-	19	2552	c.2437G>A	c.(2437-2439)Gga>Aga	p.G813R	WDR96_ENST00000428666.1_Missense_Mutation_p.G814R|WDR96_ENST00000278064.2_Missense_Mutation_p.G744R	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	813										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GATTTGATTCCTTGTTTTATC	0.303000													14	17					0	0	0.000308642	0	0
A2ML1	144568	broad.mit.edu	37	12	8976394	8976394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:8976394G>A	ENST00000299698.7	+	3	505	c.325G>A	c.(325-327)Gag>Aag	p.E109K	A2ML1-AS1_ENST00000537288.1_RNA	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	0						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CAGCTTTGAGGAGAAGAAAAA	0.502000													30	69					0	0	0.00209593	0	0
BCAS3	54828	broad.mit.edu	37	17	59161840	59161840	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:59161840C>T	ENST00000589222.1	+	22	2408	c.2340C>T	c.(2338-2340)gtC>gtT	p.V780V	BCAS3_ENST00000588874.1_Silent_p.V551V|BCAS3_ENST00000408905.3_Silent_p.V780V|BCAS3_ENST00000588462.1_Silent_p.V795V|BCAS3_ENST00000390652.5_Silent_p.V795V|BCAS3_ENST00000407086.3_Silent_p.V780V|BCAS3_ENST00000585744.1_Silent_p.V566V			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	795						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TCCAGCCAGTCCGCTCTGACC	0.478000													13	54					0	0	0.00244969	0	0
HECW2	57520	broad.mit.edu	37	2	197183280	197183280	+	Silent	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:197183280A>T	ENST00000260983.2	-	9	2516	c.2334T>A	c.(2332-2334)acT>acA	p.T778T	HECW2_ENST00000409111.1_Silent_p.T422T	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	778	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCCTACCTCCAGTAGCGCCCT	0.582000													28	49					0	0	0.00178596	0	0
DOK6	220164	broad.mit.edu	37	18	67344984	67344984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:67344984G>A	ENST00000382713.5	+	4	494	c.304G>A	c.(304-306)Gag>Aag	p.E102K	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	102	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GGAGGCCGAGGAGTGGTGCAA	0.532000													21	119					0	0	0.00152264	0	0
ACTG2	72	broad.mit.edu	37	2	74129555	74129555	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:74129555C>T	ENST00000409624.1	+	4	838	c.195C>T	c.(193-195)atC>atT	p.I65I	ACTG2_ENST00000409918.1_Silent_p.I65I|ACTG2_ENST00000409731.3_Intron|ACTG2_ENST00000345517.3_Silent_p.I65I			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	65					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						AGCGAGGGATCCTAACTCTCA	0.468000													9	46					0	0	0.000274275	0	0
OTOGL	283310	broad.mit.edu	37	12	80746107	80746107	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:80746107G>A	ENST00000458043.2	+	44	5277	c.5271G>A	c.(5269-5271)tgG>tgA	p.W1757*	OTOGL_ENST00000547103.1_Nonsense_Mutation_p.W1745*	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AAAAGATGTGGATCAATTATA	0.358000													6	23					0	0	0.00198382	0	0
NAA16	79612	broad.mit.edu	37	13	41949637	41949637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:41949637C>T	ENST00000379406.3	+	20	2818	c.2494C>T	c.(2494-2496)Cct>Tct	p.P832S	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	832					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TAACCTGCTTCCTTTTACATC	0.408000													29	32					0	0	0.00209593	0	0
ASZ1	136991	broad.mit.edu	37	7	117060321	117060321	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:117060321T>A	ENST00000284629.2	-	4	398	c.336A>T	c.(334-336)caA>caT	p.Q112H		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	112					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TCAAAATACTTTGCTTATCTA	0.358000													15	69					0	0	0.000422831	0	0
NME8	51314	broad.mit.edu	37	7	37916489	37916489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:37916489G>A	ENST00000199447.4	+	12	1246	c.874G>A	c.(874-876)Gat>Aat	p.D292N	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.D292N	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	292					cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	p.D292N(1)									CATTGAAGAGGATGCAGCTAA	0.323000													10	56					0	0	0.000673444	0	0
IPO8	10526	broad.mit.edu	37	12	30787023	30787023	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:30787023G>A	ENST00000256079.4	-	23	3231	c.2893C>T	c.(2893-2895)Ctg>Ttg	p.L965L	IPO8_ENST00000544829.1_Silent_p.L760L	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	965					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ATACTTATCAGAGCTTGTGTA	0.378000													6	23					0	0	0.00198382	0	0
ZBTB43	23099	broad.mit.edu	37	9	129594917	129594917	+	Silent	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:129594917T>A	ENST00000373464.4	+	3	393	c.129T>A	c.(127-129)atT>atA	p.I43I	ZBTB43_ENST00000373457.1_Silent_p.I43I|ZBTB43_ENST00000449886.1_Silent_p.I43I	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	43	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AAGGCCACATTTTCCGGGCAC	0.463000													14	53					0	0	0.00185496	0	0
SFTPD	6441	broad.mit.edu	37	10	81701718	81701718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:81701718C>T	ENST00000372292.3	-	5	582	c.542G>A	c.(541-543)gGg>gAg	p.G181E		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	181	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			ACCTGCTGCCCCTGTGTTTCC	0.652000													17	22					0	0	0.00188189	0	0
ANK3	288	broad.mit.edu	37	10	62023647	62023647	+	Silent	SNP	C	C	T	rs145034480	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:62023647C>T	ENST00000280772.1	-	6	836	c.645G>A	c.(643-645)acG>acA	p.T215T	ANK3_ENST00000503366.1_Silent_p.T198T|ANK3_ENST00000373827.2_Silent_p.T209T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	215					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CGGCGGCTTTCGTGTCGTCTT	0.542000													14	20					0	0	0.00244969	0	0
PSMA8	143471	broad.mit.edu	37	18	23713929	23713929	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:23713929G>A	ENST00000308268.6	+	0	89				PSMA8_ENST00000343848.6_De_novo_Start_InFrame|PSMA8_ENST00000415576.2_De_novo_Start_InFrame	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			AGTCCTGTGCGATGGCGTCTC	0.602000													23	98					0	0	0.000878237	0	0
KANSL1	284058	broad.mit.edu	37	17	44109612	44109612	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:44109612G>A	ENST00000262419.6	-	14	3361	c.2891C>T	c.(2890-2892)cCc>cTc	p.P964L	KANSL1_ENST00000575318.1_Missense_Mutation_p.P900L|KANSL1_ENST00000432791.1_Missense_Mutation_p.P964L|KANSL1_ENST00000393476.3_Missense_Mutation_p.P258L|KANSL1_ENST00000574590.1_Missense_Mutation_p.P964L|KANSL1_ENST00000572904.1_Missense_Mutation_p.P964L	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	964						MLL1 complex	protein binding										GGGGGTGGAGGGGTTGGCACT	0.582000													65	49					0	0	0.000781405	0	0
SMARCA2	6595	broad.mit.edu	37	9	2081880	2081880	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:2081880G>A	ENST00000382203.1	+	15	2442	c.2233G>A	c.(2233-2235)Gga>Aga	p.G745R	SMARCA2_ENST00000349721.2_Missense_Mutation_p.G745R|SMARCA2_ENST00000382194.1_Missense_Mutation_p.G745R|SMARCA2_ENST00000357248.2_Missense_Mutation_p.G745R			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	745	Helicase ATP-binding.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CAACTTGAACGGAATCTTAGC	0.423000													15	3					0	0	0.000566183	0	0
COLGALT2	23127	broad.mit.edu	37	1	183938538	183938538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:183938538G>A	ENST00000361927.4	-	5	1068	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S	COLGALT2_ENST00000546159.1_Missense_Mutation_p.P233S	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		TGGACCATGGGGACGGGGAAG	0.522000													22	102					0	0	0.00047179	0	0
RYR2	6262	broad.mit.edu	37	1	237969439	237969439	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:237969439C>T	ENST00000366574.2	+	99	14471	c.14154C>T	c.(14152-14154)tcC>tcT	p.S4718S	RYR2_ENST00000542537.1_Silent_p.S4702S|RYR2_ENST00000360064.6_Silent_p.S4724S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4718					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)			CTTAATAGTCCTTCCTCTACC	0.398000													7	64					0	0	0.000157383	0	0
USP6	9098	broad.mit.edu	37	17	5074166	5074166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:5074166G>A	ENST00000574788.1	+	36	6140	c.3910G>A	c.(3910-3912)Gaa>Aaa	p.E1304K	USP6_ENST00000250066.6_Missense_Mutation_p.E1304K|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.E987K			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1304					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGACCAAAGAGAAGACACTCA	0.408000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								21	16					0	0	0.00278032	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435377	104435377	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:104435377G>A	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							GGTCAGGAGTGATTCTGAAGC	0.413000													15	29					0	0	0.000422831	0	0
MYH9	4627	broad.mit.edu	37	22	36688254	36688254	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:36688254C>T	ENST00000216181.5	-	31	4352	c.4122G>A	c.(4120-4122)gaG>gaA	p.E1374E		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1374					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCACACTGTCCTCCATCTTCT	0.627000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				86	187					0	0	0.000781405	0	0
PRKAG1	5571	broad.mit.edu	37	12	49397341	49397341	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:49397341G>A	ENST00000548065.1	-	10	1197	c.741_splice	c.e10+1	p.I247_splice	RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000316299.5_Splice_Site_p.I256_splice|PRKAG1_ENST00000547306.1_Splice_Site_p.I196_splice|PRKAG1_ENST00000395170.3_Splice_Site_p.I163_splice|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000552212.1_Splice_Site_p.I215_splice			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	247	CBS 3.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						AATCACTCACGATAACATCAA	0.532000													7	32					0	0	0.000157383	0	0
ZNF512B	57473	broad.mit.edu	37	20	62599259	62599259	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:62599259G>A	ENST00000450537.1	-	2	105	c.45C>T	c.(43-45)tcC>tcT	p.S15S	ZNF512B_ENST00000217130.3_Silent_p.S15S|ZNF512B_ENST00000369888.1_Silent_p.S15S			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	15					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)					CACTCTTGCTGGACCCCGGGA	0.597000													47	45					0	0	0.000781405	0	0
WNT10B	7480	broad.mit.edu	37	12	49360220	49360220	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:49360220C>T	ENST00000301061.4	-	5	1176	c.828G>A	c.(826-828)agG>agA	p.R276R	WNT10B_ENST00000403957.1_3'UTR|WNT10B_ENST00000407467.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	276					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CCAGCCGCTCCCTCAACGCCG	0.632000													37	25					0	0	0.00128727	0	0
NPY1R	4886	broad.mit.edu	37	4	164246629	164246629	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:164246629G>A	ENST00000296533.2	-	3	1512	c.981C>T	c.(979-981)ttC>ttT	p.F327F	NPY1R_ENST00000509586.1_Silent_p.F84F	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	327					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.F327F(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AGTCTCTCTGGAAGTTTTTGT	0.433000													14	49					0	0	0.000422831	0	0
C1orf94	84970	broad.mit.edu	37	1	34667830	34667830	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:34667830C>T	ENST00000488417.1	+	4	1536	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	C1orf94_ENST00000373374.3_Silent_p.F282F	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	282							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CACCAGTGTTCACGAATCACT	0.547000													29	93					0	0	0.00058488	0	0
CCDC180	100499483	broad.mit.edu	37	9	100090419	100090419	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:100090419C>T	ENST00000375202.2	+	30	3263	c.1911C>T	c.(1909-1911)atC>atT	p.I637I	CCDC180_ENST00000529487.1_Silent_p.I637I|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Silent_p.I634I|CCDC180_ENST00000357054.1_Silent_p.I776I|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_3'UTR					coiled-coil domain containing 180																		TGCGTGAAATCTTTGAACAGG	0.478000													26	61					0	0	0.000878237	0	0
GPR123	84435	broad.mit.edu	37	10	134893869	134893869	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:134893869C>T	ENST00000607359.1	+	4	814	c.814C>T	c.(814-816)Cga>Tga	p.R272*				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	324						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GGCTGACCCTCGAAGATGCTC	0.692000													5	6					0	0	0.00116845	0	0
NLRC5	84166	broad.mit.edu	37	16	57059746	57059746	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:57059746G>A	ENST00000436936.1	+	6	1116	c.891G>A	c.(889-891)aaG>aaA	p.K297K	NLRC5_ENST00000308149.7_Silent_p.K297K|NLRC5_ENST00000262510.6_Silent_p.K297K|NLRC5_ENST00000539144.1_Silent_p.K297K			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	297	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ACCTGGAGAAGAACGCTGACC	0.552000													27	67					0	0	0.00178596	0	0
KLRF1	51348	broad.mit.edu	37	12	9997066	9997066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:9997066G>A	ENST00000279544.3	+	6	704	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	KLRF1_ENST00000537723.1_3'UTR|KLRF1_ENST00000354855.3_3'UTR|KLRF1_ENST00000324214.4_Missense_Mutation_p.E164K	NM_016523.1	NP_057607.1	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	214	C-type lectin.				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						TGCCATTAAGGAAAGCAAAAT	0.353000													11	2					0	0	0.00185496	0	0
FMO3	2328	broad.mit.edu	37	1	171083175	171083175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:171083175G>A	ENST00000367755.4	+	7	967	c.856G>A	c.(856-858)Gat>Aat	p.D286N	FMO3_ENST00000392085.2_Missense_Mutation_p.D286N|FMO3_ENST00000542847.1_Missense_Mutation_p.D266N|FMO3_ENST00000538429.1_Missense_Mutation_p.D223N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	286					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGTATTTAACGATGAGCTCCC	0.408000													6	43					0	0	0.00198382	0	0
SOGA3	387104	broad.mit.edu	37	6	127837547	127837547	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:127837547C>T	ENST00000556132.1	-	2	1077	c.213G>A	c.(211-213)cgG>cgA	p.R71R	SOGA3_ENST00000465909.2_Silent_p.R71R|SOGA3_ENST00000368268.2_Silent_p.R71R|SOGA3_ENST00000525778.1_Silent_p.R71R|SOGA3_ENST00000481848.2_Silent_p.R71R	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	71						integral to membrane											gctgctgctgcCGAACAGAAT	0.672000													18	14					0	0	0.00152264	0	0
OR6C3	254786	broad.mit.edu	37	12	55725853	55725853	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:55725853C>T	ENST00000379667.1	+	1	369	c.369C>T	c.(367-369)atC>atT	p.I123I		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ATGTTGCCATCTGCAAGCCCC	0.458000													69	39					0	0	0.000781405	0	0
KCNK10	54207	broad.mit.edu	37	14	88652155	88652155	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:88652155G>A	ENST00000340700.5	-	7	1792	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	KCNK10_ENST00000319231.5_Silent_p.F452F|KCNK10_ENST00000312350.5_Silent_p.F452F	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	447					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGGTGGACCCGAACTTGTTGA	0.542000													31	122					0	0	0.0024448	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190707	209190707	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:209190707C>T	ENST00000264380.4	+	20	3330	c.3172C>T	c.(3172-3174)Cca>Tca	p.P1058S		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1058					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CTGTATCTCCCCAGTAATCAC	0.408000													42	54					0	0	0.00222228	0	0
TRIM29	23650	broad.mit.edu	37	11	119986080	119986080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:119986080G>A	ENST00000341846.5	-	8	2091	c.1670C>T	c.(1669-1671)cCc>cTc	p.P557L	TRIM29_ENST00000524816.3_Missense_Mutation_p.P123L|TRIM29_ENST00000541857.1_Missense_Mutation_p.P290L|TRIM29_ENST00000529044.1_Missense_Mutation_p.P296L|TRIM29_ENST00000528870.1_Missense_Mutation_p.P90L|TRIM29_ENST00000525887.1_5'UTR	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	557					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CCAAGTCTGGGGCTGGGCCTT	0.627000													17	30					0	0	0.00278032	0	0
EFCAB6	64800	broad.mit.edu	37	22	44074038	44074038	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:44074038G>A	ENST00000358439.4	-	9	901	c.719C>T	c.(718-720)cCg>cTg	p.P240L	EFCAB6_ENST00000396231.2_Silent_p.P267P|EFCAB6_ENST00000262726.7_Silent_p.P419P			Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCGGTCCATCGGGTTTCTGAG	0.318000													21	71					0	0	0.00152264	0	0
SALL3	27164	broad.mit.edu	37	18	76755226	76755226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:76755226C>T	ENST00000536229.3	+	2	3329	c.2620C>T	c.(2620-2622)Ccg>Tcg	p.P874S	SALL3_ENST00000575389.2_Missense_Mutation_p.P1007S|SALL3_ENST00000537592.2_Missense_Mutation_p.P1079S			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1079					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGAGGGTCCCCCGCTGCCCGC	0.711000													8	30					0	0	0.000157383	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140723606	140723606	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:140723606C>T	ENST00000253812.6	+	1	6	c.6C>T	c.(4-6)acC>acT	p.T2T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAAATGACCAATTGCCTGA	0.517000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	135					0	0	0.000781405	0	0
ARMC4	55130	broad.mit.edu	37	10	28151526	28151526	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:28151526A>T	ENST00000305242.5	-	18	2728	c.2636T>A	c.(2635-2637)tTt>tAt	p.F879Y	ARMC4_ENST00000537576.1_Missense_Mutation_p.F571Y|ARMC4_ENST00000545014.1_Missense_Mutation_p.F404Y	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	879							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACCACCAACAAAGGAACGAAC	0.348000													9	10					0	0	0.000442599	0	0
NACC1	112939	broad.mit.edu	37	19	13246315	13246315	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:13246315C>T	ENST00000292431.4	+	2	420	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	98					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GCGACCAGTTCCTGCTCATGT	0.627000													14	23					0	0	0.00244969	0	0
C3orf62	375341	broad.mit.edu	37	3	49314265	49314265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:49314265G>A	ENST00000343010.3	-	1	1077	c.41C>T	c.(40-42)tCt>tTt	p.S14F		NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	14										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TAGTTTTTCAGACATTTCTCC	0.448000													10	52					0	0	0.000978159	0	0
ALS2	57679	broad.mit.edu	37	2	202568857	202568857	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:202568857G>A	ENST00000264276.6	-	33	5295	c.4923C>T	c.(4921-4923)ttC>ttT	p.F1641F	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1641	VPS9.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TCAAGGTGGTGAACATTATAC	0.368000													13	42					0	0	0.00185496	0	0
PCSK5	5125	broad.mit.edu	37	9	78601055	78601055	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:78601055G>A	ENST00000545128.1	+	3	843	c.305G>A	c.(304-306)tGg>tAg	p.W102*	PCSK5_ENST00000376752.4_Nonsense_Mutation_p.W102*|PCSK5_ENST00000376767.3_Nonsense_Mutation_p.W102*	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	102					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						CAGGTGGAATGGATCCAACAG	0.448000													18	65					0	0	0.000958276	0	0
ASTL	431705	broad.mit.edu	37	2	96789615	96789615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:96789615G>A	ENST00000342380.2	-	9	1269	c.1270C>T	c.(1270-1272)Cat>Tat	p.H424Y		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	424					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCCTTGAAATGATTTCTAGGT	0.577000													27	51					0	0	0.00178596	0	0
DDX41	51428	broad.mit.edu	37	5	176941768	176941768	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:176941768G>A	ENST00000507955.1	-	9	1392	c.869C>T	c.(868-870)cCa>cTa	p.P290L		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	290	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)|Epithelial(233;0.191)			GCGCAGGAGTGGTGAGCTGTC	0.657000													41	68					0	0	0.00222228	0	0
CXorf22	170063	broad.mit.edu	37	X	35971789	35971789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:35971789G>A	ENST00000297866.5	+	7	1193	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	376										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GAGTCCGTAGGAAGTAAAGAT	0.323000													34	1					0	0	0.00058488	0	0
CYP2A13	1553	broad.mit.edu	37	19	41600253	41600253	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:41600253C>T	ENST00000330436.3	+	7	1077	c.1077C>T	c.(1075-1077)atC>atT	p.I359I		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	359					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TCCACGAGATCCAAAGATTTG	0.552000													21	61					0	0	0.00229938	0	0
OR4X2	119764	broad.mit.edu	37	11	48266932	48266932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:48266932C>T	ENST00000302329.3	+	1	325	c.277C>T	c.(277-279)Ctt>Ttt	p.L93F		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CATGGCACAGCTTTTCTTCTT	0.517000													19	38					0	0	0.00188189	0	0
DLL4	54567	broad.mit.edu	37	15	41228589	41228589	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:41228589C>T	ENST00000249749.5	+	9	1680	c.1404C>T	c.(1402-1404)gcC>gcT	p.A468A		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	468	EGF-like 7.				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCTGCCCTGCCGGCTTCTCTG	0.627000													15	2					0	0	0.000422831	0	0
SAA2	6289	broad.mit.edu	37	11	18269491	18269491	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:18269491G>A	ENST00000414546.2	-	2	112	c.68C>T	c.(67-69)tCg>tTg	p.S23L	SAA2_ENST00000530400.1_Missense_Mutation_p.S23L|SAA2_ENST00000526900.1_Missense_Mutation_p.S23L|SAA2_ENST00000256733.4_Missense_Mutation_p.S23L|SAA2_ENST00000529528.1_Missense_Mutation_p.S23L|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000528349.1_Missense_Mutation_p.S23L	NM_001127380.2	NP_001120852.1			serum amyloid A2											central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						GCCAAGGAACGAAAAGAAGCT	0.498000													19	23					0	0	0.00047179	0	0
RYR3	6263	broad.mit.edu	37	15	33855043	33855043	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:33855043C>T	ENST00000389232.4	+	11	1048	c.978C>T	c.(976-978)ctC>ctT	p.L326L	RYR3_ENST00000415757.3_Silent_p.L326L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	326	MIR 4.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L326L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATTAGGAACTCAAGGAGAAAT	0.388000													8	9					0	0	0.000157383	0	0
CCDC147	159686	broad.mit.edu	37	10	106163596	106163596	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:106163596G>A	ENST00000369704.3	+	14	2283	c.2149G>A	c.(2149-2151)Gag>Aag	p.E717K		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	717										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAGGAAGCTCGAGGTAACATC	0.507000													3	4					0	0	6.4e-05	0	0
POLR2B	5431	broad.mit.edu	37	4	57860960	57860960	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:57860960T>A	ENST00000381227.1	+	6	917	c.504T>A	c.(502-504)gaT>gaA	p.D168E	POLR2B_ENST00000314595.5_Missense_Mutation_p.D168E|POLR2B_ENST00000431623.2_Missense_Mutation_p.D93E|POLR2B_ENST00000441246.2_Missense_Mutation_p.D161E			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	168					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GCTTGACAGATCGTGATCTTT	0.338000													32	35					0	0	0.00111076	0	0
C6	729	broad.mit.edu	37	5	41201788	41201788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:41201788C>T	ENST00000263413.3	-	3	436	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	C6_ENST00000337836.5_Missense_Mutation_p.E58K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	58	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CAAAAGTTTTCCTGGTAGTAC	0.408000													8	39					0	0	0.000274275	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957327	35957327	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:35957327C>T	ENST00000274278.3	-	5	1395	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Silent_p.V346V|UGT3A1_ENST00000507113.1_Silent_p.V312V	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	346						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACAATTTTCACATTTGTGG	0.488000													12	28					0	0	0.00244969	0	0
NANOGP1	404635	broad.mit.edu	37	12	8048091	8048091	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:8048091C>T	ENST00000607111.1	+	0	19																				kidney(1)|lung(4)|prostate(1)	6						CTTCCTTCCTCCATGGATCTG	0.378000													20	68					0	0	0.00229938	0	0
TRIO	7204	broad.mit.edu	37	5	14387901	14387901	+	Silent	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:14387901C>A	ENST00000344204.4	+	23	3850	c.3826C>A	c.(3826-3828)Cga>Aga	p.R1276R	TRIO_ENST00000537187.1_Silent_p.R1276R|TRIO_ENST00000509967.2_Silent_p.R1227R	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1276					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GGTGAAACTTCGAGATGCTGC	0.433000													28	31					5.91797e-21	2.18838e-20	0.0024448	1	0
EDA	1896	broad.mit.edu	37	X	69255270	69255270	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:69255270C>T	ENST00000374552.4	+	8	1229	c.987C>T	c.(985-987)ttC>ttT	p.F329F	EDA_ENST00000374553.2_Silent_p.F327F|EDA_ENST00000524573.1_Silent_p.F324F	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	329					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						AGAAGCCCTTCCTGCAGTGCA	0.547000													9	12					0	0	0.000442599	0	0
FCAMR	83953	broad.mit.edu	37	1	207133109	207133109	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:207133109G>A	ENST00000400962.3	-	7	1102	c.686C>T	c.(685-687)cCc>cTc	p.P229L	FCAMR_ENST00000324852.4_Silent_p.T496T|FCAMR_ENST00000450945.2_Missense_Mutation_p.P229L|FCAMR_ENST00000486178.1_5'UTR	NM_001122979.2|NM_032029.4	NP_001116451.1|NP_114418.2	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	370						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						CAGGAGCCAGGGTCCGAGAGC	0.517000													43	190					0	0	0.000781405	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959969	157959969	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:157959969G>A	ENST00000389413.3	-	6	667	c.564C>T	c.(562-564)ttC>ttT	p.F188F	PTPRN2_ENST00000389418.4_Silent_p.F188F|PTPRN2_ENST00000389416.4_Silent_p.F171F|PTPRN2_ENST00000404321.2_Silent_p.F211F|PTPRN2_ENST00000409483.1_Silent_p.F150F	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	188						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGCTCTCGGAGAAGCGGTCAT	0.607000													25	86					0	0	0.00209593	0	0
CDH6	1004	broad.mit.edu	37	5	31322980	31322980	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:31322980C>T	ENST00000265071.2	+	12	2203	c.1938C>T	c.(1936-1938)atC>atT	p.I646I		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	646					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGCCTTTGATCATTTCCAAAG	0.463000													22	47					0	0	0.00047179	0	0
CAD	790	broad.mit.edu	37	2	27465189	27465189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:27465189G>A	ENST00000264705.4	+	40	6278	c.6116G>A	c.(6115-6117)cGg>cAg	p.R2039Q	CAD_ENST00000403525.1_Missense_Mutation_p.R1976Q	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	2039	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AAGCACTGCCGGAGGCCAGTG	0.617000													18	40					0	0	0.000958276	0	0
KIAA0586	9786	broad.mit.edu	37	14	58949281	58949281	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:58949281C>T	ENST00000423743.3	+	22	3121	c.2863C>T	c.(2863-2865)Cct>Tct	p.P955S	KIAA0586_ENST00000556134.1_Missense_Mutation_p.P984S|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.P1052S|KIAA0586_ENST00000261244.5_Missense_Mutation_p.P923S	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	923										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGCTGGTGTTCCTGTGAACTC	0.423000													9	46					0	0	0.000274275	0	0
LRP8	7804	broad.mit.edu	37	1	53726184	53726184	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:53726184T>C	ENST00000306052.6	-	13	2109	c.2008A>G	c.(2008-2010)Aac>Gac	p.N670D	LRP8_ENST00000347547.2_Missense_Mutation_p.N500D|LRP8_ENST00000371454.2_Missense_Mutation_p.N670D|LRP8_ENST00000465675.1_Missense_Mutation_p.N223D|LRP8_ENST00000354412.3_Missense_Mutation_p.N541D|LRP8_ENST00000460214.1_5'UTR	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	670					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TGTGGGTTGTTGAGGTTCTCA	0.537000													59	57					0	0	0.000781405	0	0
IWS1	55677	broad.mit.edu	37	2	128262941	128262941	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:128262941G>A	ENST00000295321.4	-	3	797	c.538C>T	c.(538-540)Cct>Tct	p.P180S	IWS1_ENST00000486662.1_5'UTR|IWS1_ENST00000455721.2_Missense_Mutation_p.P187S|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	180	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTGATTTGAGGTTTTAGAGCA	0.488000													76	106					0	0	0.000781405	0	0
APOL5	80831	broad.mit.edu	37	22	36122392	36122392	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:36122392G>A	ENST00000249044.2	+	3	277	c.277G>A	c.(277-279)Gga>Aga	p.G93R		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	93					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CATGCCAGATGGAAATCTGTC	0.413000													37	125					0	0	0.000953801	0	0
MROH2B	133558	broad.mit.edu	37	5	41018473	41018473	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:41018473G>A	ENST00000399564.4	-	27	3183	c.2733C>T	c.(2731-2733)atC>atT	p.I911I	MROH2B_ENST00000506092.2_Silent_p.I466I	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CTTTCGCAGTGATCTGGAAGG	0.393000													5	27					0	0	0.000602214	0	0
SF3B1	23451	broad.mit.edu	37	2	198270043	198270043	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:198270043G>A	ENST00000335508.5	-	10	1484	c.1393C>T	c.(1393-1395)Cca>Tca	p.P465S		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	465	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTTAAAAATGGAAGATTTCCA	0.338000			Mis		myelodysplastic syndrome								9	56					0	0	0.000442599	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													6	59					0	0	0.00198382	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77317962	77317962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:77317962G>A	ENST00000282849.5	-	23	3975	c.3557C>T	c.(3556-3558)cCa>cTa	p.P1186L	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1186	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TACGCAGGATGGATCCTCTAA	0.393000													14	54					0	0	0.000308642	0	0
VCAM1	7412	broad.mit.edu	37	1	101186048	101186048	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:101186048C>T	ENST00000294728.2	+	2	182	c.81C>T	c.(79-81)atC>atT	p.I27I	VCAM1_ENST00000347652.2_Silent_p.I27I|VCAM1_ENST00000370115.1_Silent_p.I27I|VCAM1_ENST00000370119.4_Silent_p.I27I	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	27	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.I27M(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTTTTAAAATCGAGACCACCC	0.408000													9	65					0	0	0.000673444	0	0
USP7	7874	broad.mit.edu	37	16	8988680	8988680	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:8988680G>A	ENST00000344836.4	-	29	3270	c.3072C>T	c.(3070-3072)atC>atT	p.I1024I	USP7_ENST00000535863.1_Silent_p.I925I|USP7_ENST00000381886.4_Silent_p.I1008I	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	1024					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GCAGGCTCTGGATTCGCTTCA	0.592000													31	90					0	0	0.0024448	0	0
SVEP1	79987	broad.mit.edu	37	9	113169812	113169812	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:113169812C>T	ENST00000401783.2	-	38	8404	c.8068G>A	c.(8068-8070)Gaa>Aaa	p.E2690K	SVEP1_ENST00000297826.5_Missense_Mutation_p.E616K|SVEP1_ENST00000374469.1_Missense_Mutation_p.E2667K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2690	Sushi 21.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCCAGAAGTTCATATCCTGGA	0.453000													49	160					0	0	0.000781405	0	0
PPRC1	23082	broad.mit.edu	37	10	103899845	103899845	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:103899845C>T	ENST00000278070.2	+	5	1619	c.1580C>T	c.(1579-1581)gCc>gTc	p.A527V	PPRC1_ENST00000413464.2_Missense_Mutation_p.A527V	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGGGCTCGGGCCTGGGCAGCT	0.542000													24	39					0	0	0.000878237	0	0
THADA	63892	broad.mit.edu	37	2	43625187	43625187	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:43625187G>A	ENST00000405006.4	-	29	4501	c.4150C>T	c.(4150-4152)Cga>Tga	p.R1384*	THADA_ENST00000330266.7_Intron|THADA_ENST00000485353.1_5'UTR|THADA_ENST00000415080.2_Nonsense_Mutation_p.R1065*|THADA_ENST00000405975.2_Nonsense_Mutation_p.R1384*	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1384							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AACAGAGTTCGAATGGTATTA	0.493000													325	376					0	0	0.000781405	0	0
ABCC8	6833	broad.mit.edu	37	11	17418804	17418804	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:17418804C>T	ENST00000302539.4	-	32	4052	c.3927G>A	c.(3925-3927)ctG>ctA	p.L1309L	ABCC8_ENST00000389817.3_Silent_p.L1308L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1308					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TCACAGCCCCCAGCTGGAGCT	0.612000													43	57					0	0	0.0025221	0	0
NOTCH4	4855	broad.mit.edu	37	6	32189026	32189026	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:32189026G>A	ENST00000375023.3	-	4	666	c.528C>T	c.(526-528)ccC>ccT	p.P176P		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	176	EGF-like 4.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ACTGGATCTGGGGGTATGTGG	0.612000													150	174					0	0	0.000781405	0	0
MYH1	4619	broad.mit.edu	37	17	10395868	10395868	+	Silent	SNP	G	G	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:10395868G>C	ENST00000226207.5	-	40	5779	c.5685C>G	c.(5683-5685)gtC>gtG	p.V1895V	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1895						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGAGAGGTTGACGTTGGATT	0.473000													23	30					0	0	0.00278032	0	0
FAM188A	80013	broad.mit.edu	37	10	15838110	15838110	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:15838110T>A	ENST00000378036.1	-	2	1235	c.59A>T	c.(58-60)tAc>tTc	p.Y20F	FAM188A_ENST00000477891.1_5'UTR|FAM188A_ENST00000277632.3_Missense_Mutation_p.Y315F			Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	315					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TTCTGGGTCGTAGGTTTGAAA	0.358000													16	32					0	0	0.000422831	0	0
TBC1D15	64786	broad.mit.edu	37	12	72316796	72316796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:72316796C>T	ENST00000550746.1	+	18	1952	c.1888C>T	c.(1888-1890)Ctt>Ttt	p.L630F	TBC1D15_ENST00000485960.2_Missense_Mutation_p.L613F|TBC1D15_ENST00000393309.3_Missense_Mutation_p.L384F|TBC1D15_ENST00000319106.8_Missense_Mutation_p.L621F	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	630							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATCCTTGGGCTTCAAGGCAG	0.398000													22	47					0	0	0.00229938	0	0
AGO1	26523	broad.mit.edu	37	1	36359751	36359751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:36359751C>T	ENST00000373204.4	+	6	976	c.763C>T	c.(763-765)Cgc>Tgc	p.R255C	AGO1_ENST00000373206.1_Missense_Mutation_p.R180C	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		TCAGCGCGTTCGCTTCACCAA	0.547000													29	32					0	0	0.000878237	0	0
CAPN10	11132	broad.mit.edu	37	2	241528788	241528788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:241528788C>T	ENST00000391984.2	+	2	366	c.170C>T	c.(169-171)cCa>cTa	p.P57L	CAPN10_ENST00000270364.7_Missense_Mutation_p.P57L|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Missense_Mutation_p.P57L|CAPN10_ENST00000404753.3_Missense_Mutation_p.P57L|CAPN10_ENST00000391982.2_Missense_Mutation_p.P57L	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	57	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		CGGCTGTTTCCAGATGACCCA	0.577000													37	166					0	0	0.00148497	0	0
CALR3	125972	broad.mit.edu	37	19	16590049	16590049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:16590049C>T	ENST00000269881.3	-	9	1110	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	350	C-domain.|Glu/Lys-rich.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						TTCATTTCCTCCTTGGCCTGT	0.498000													32	132					0	0	0.0024448	0	0
CA8	767	broad.mit.edu	37	8	61135273	61135273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:61135273G>A	ENST00000317995.4	-	7	937	c.673C>T	c.(673-675)Cca>Tca	p.P225S	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	225					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				CTGCAAGGTGGGATGGTGAGA	0.458000													41	26					0	0	0.0025221	0	0
VAT1L	57687	broad.mit.edu	37	16	77859274	77859274	+	Silent	SNP	C	C	T	rs149678482	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:77859274C>T	ENST00000302536.2	+	3	648	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	165							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CCATGAACTTCGTCACAGCCT	0.552000													15	4					0	0	0.00244969	0	0
FAM13B	51306	broad.mit.edu	37	5	137289982	137289982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:137289982G>A	ENST00000033079.3	-	14	1976	c.1525C>T	c.(1525-1527)Cat>Tat	p.H509Y	FAM13B_ENST00000420893.2_Missense_Mutation_p.H509Y|FAM13B_ENST00000425075.2_Missense_Mutation_p.H413Y	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	509					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						AAGGGGTGATGATTCATTCTT	0.448000													14	42					0	0	0.00244969	0	0
VOPP1	81552	broad.mit.edu	37	7	55560099	55560099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:55560099C>T	ENST00000285279.5	-	4	404	c.204G>A	c.(202-204)atG>atA	p.M68I	VOPP1_ENST00000545390.1_Missense_Mutation_p.M65I|VOPP1_ENST00000428648.1_Start_Codon_SNP_p.M1I|VOPP1_ENST00000428097.1_Start_Codon_SNP_p.M1I|VOPP1_ENST00000433959.1_Missense_Mutation_p.M59I|VOPP1_ENST00000454227.1_Missense_Mutation_p.M5I|VOPP1_ENST00000427700.1_Missense_Mutation_p.M66I|VOPP1_ENST00000453256.1_Start_Codon_SNP_p.M1I|VOPP1_ENST00000418904.1_Missense_Mutation_p.M51I	NM_030796.3	NP_110423.3	Q96AW1	VOPP1_HUMAN	vesicular, overexpressed in cancer, prosurvival protein 1	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity			endometrium(1)|lung(4)	5						GCACGCCCATCATCAGAAGGA	0.617000													4	19					0	0	0.000602214	0	0
SUPT5H	6829	broad.mit.edu	37	19	39957154	39957154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:39957154C>T	ENST00000599117.1	+	13	1278	c.911C>T	c.(910-912)tCc>tTc	p.S304F	SUPT5H_ENST00000432763.2_Missense_Mutation_p.S304F|SUPT5H_ENST00000359191.6_Missense_Mutation_p.S300F|SUPT5H_ENST00000402194.2_Missense_Mutation_p.S300F|SUPT5H_ENST00000598725.1_Missense_Mutation_p.S304F			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	304	KOW 1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AACACCATCTCCCTGAAGATG	0.617000													26	46					0	0	0.000878237	0	0
STARD6	147323	broad.mit.edu	37	18	51851088	51851088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:51851088C>T	ENST00000581310.1	-	9	1010	c.637G>A	c.(637-639)Gga>Aga	p.G213R	STARD6_ENST00000580990.2_Missense_Mutation_p.G89R|STARD6_ENST00000307844.3_Missense_Mutation_p.G213R			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	213					lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TGATGAAATCCACGTCTTGAT	0.358000													19	82					0	0	0.00278032	0	0
NTMT1	28989	broad.mit.edu	37	9	132397675	132397675	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:132397675C>T	ENST00000372486.1	+	4	953	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	NTMT1_ENST00000372481.3_3'UTR|NTMT1_ENST00000372483.4_Silent_p.L202L|NTMT1_ENST00000482347.1_Silent_p.L114L|NTMT1_ENST00000372480.1_Silent_p.L202L					N-terminal Xaa-Pro-Lys N-methyltransferase 1																		CCTCAGCCTCCTGGCCGAGGA	0.617000													53	73					0	0	0.000781405	0	0
CELA1	1990	broad.mit.edu	37	12	51733658	51733658	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:51733658G>A	ENST00000293636.1	-	6	635	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	199	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CATCCAGAGCGAACTCCATCT	0.602000													9	33					0	0	0.000442599	0	0
SON	6651	broad.mit.edu	37	21	34927484	34927484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:34927484C>T	ENST00000356577.4	+	3	6422	c.5947C>T	c.(5947-5949)Cgc>Tgc	p.R1983C	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.R1983C|SON_ENST00000290239.6_Missense_Mutation_p.R1983C|SON_ENST00000300278.4_Missense_Mutation_p.R1983C	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1983	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS].				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						cacccccagccgccggagccg	0.711000													11	21					0	0	0.000673444	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318927	21318927	+	Silent	SNP	C	C	T	rs142326096		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:21318927C>T	ENST00000583088.1	+	3	1168	c.273C>T	c.(271-273)ttC>ttT	p.F91F	KCNJ12_ENST00000331718.5_Silent_p.F91F	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CGCTGGCCTTCCTTGCCTCCT	0.622000										Prostate(3;0.18)			6	34					0	0	0.00116845	0	0
ATP1A2	477	broad.mit.edu	37	1	160105280	160105280	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:160105280G>A	ENST00000361216.3	+	16	2261	c.2172G>A	c.(2170-2172)aaG>aaA	p.K724K	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.K724K	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	724					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CATTGAAGAAGGCTGACATTG	0.582000													17	96					0	0	0.000958276	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967326	142967326	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:142967326G>A	ENST00000370494.1	+	1	154	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	42							acid-amino acid ligase activity	p.E42K(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CATTGCTGGGGAATCAAAGGA	0.473000													43	37					0	0	0.00285205	0	0
CCDC157	550631	broad.mit.edu	37	22	30770064	30770064	+	Silent	SNP	C	C	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:30770064C>G	ENST00000405659.1	+	9	2365	c.1656C>G	c.(1654-1656)acC>acG	p.T552T	CCDC157_ENST00000338306.3_Silent_p.T552T			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	552										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						ACAGGCCCACCGAGACCCAGA	0.667000													18	8					0	0	0.000566183	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033225	52033225	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:52033225G>A	ENST00000346477.3	-	4	785	c.717C>T	c.(715-717)atC>atT	p.I239I	SIGLEC6_ENST00000391797.3_Silent_p.I244I|SIGLEC6_ENST00000425629.3_Silent_p.I255I|SIGLEC6_ENST00000436458.1_Silent_p.I203I|SIGLEC6_ENST00000343300.4_Silent_p.I255I|SIGLEC6_ENST00000359982.4_Silent_p.I266I	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	255	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGTTTTGCAGGATTTTGAAGG	0.592000													22	102					0	0	0.00047179	0	0
CACNA1B	774	broad.mit.edu	37	9	141010018	141010018	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:141010018C>T	ENST00000277549.5	+	42	5815	c.3246C>T	c.(3244-3246)tcC>tcT	p.S1082S	CACNA1B_ENST00000371355.4_Silent_p.S1889S|CACNA1B_ENST00000371357.1_Silent_p.S1887S|CACNA1B_ENST00000371363.1_Silent_p.S1886S|CACNA1B_ENST00000371372.1_Silent_p.S1888S|CACNA1B_ENST00000277551.2_Silent_p.S1888S			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1888					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GTCCTGTGTCCCTGTTCCACC	0.602000													58	84					0	0	0.000781405	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30881844	30881844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:30881844G>A	ENST00000251071.5	-	8	2270	c.1520C>T	c.(1519-1521)cCa>cTa	p.P507L	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P174L|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.P507L|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.P507L|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.P507L	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	507					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTGCTTCTTTGGATCTTGTTC	0.453000													47	30					0	0	0.0025221	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54933883	54933883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:54933883C>T	ENST00000474759.1	+	27	2485	c.2437C>T	c.(2437-2439)Cct>Tct	p.P813S	CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.P719S|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.P813S|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.P813S	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	813						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ACGGAAATCTCCTGTGGTGGC	0.453000													5	9					0	0	0.00116845	0	0
DNM1	1759	broad.mit.edu	37	9	130982548	130982548	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:130982548C>T	ENST00000341179.7	+	6	869	c.777C>T	c.(775-777)ttC>ttT	p.F259F	DNM1_ENST00000486160.1_Silent_p.F259F|DNM1_ENST00000475805.1_Silent_p.F259F|DNM1_ENST00000393594.3_Silent_p.F259F|DNM1_ENST00000372923.3_Silent_p.F259F	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	259					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GAAAGTTCTTCCTCTCCCATC	0.557000													32	120					0	0	0.00058488	0	0
WWC1	23286	broad.mit.edu	37	5	167868776	167868776	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:167868776G>A	ENST00000265293.4	+	16	2872	c.2370G>A	c.(2368-2370)aaG>aaA	p.K790K	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Silent_p.K790K	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	790					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AATACTTGAAGAAACAGAGCA	0.622000													12	28					0	0	0.00136819	0	0
GPHN	10243	broad.mit.edu	37	14	67525457	67525457	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:67525457C>T	ENST00000478722.1	+	11	2219	c.1098C>T	c.(1096-1098)gtC>gtT	p.V366V	GPHN_ENST00000315266.5_Silent_p.V333V|GPHN_ENST00000305960.9_Silent_p.V302V|GPHN_ENST00000543237.1_Silent_p.V379V|GPHN_ENST00000459628.1_Silent_p.V348V|GPHN_ENST00000544752.2_3'UTR	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	333	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TTATCACAGTCCTGGAGATGA	0.418000			T	MLL	AL								39	127					0	0	0.00128727	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94879550	94879550	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:94879550C>T	ENST00000289495.5	+	8	2529	c.2313C>T	c.(2311-2313)atC>atT	p.I771I	PPP1R9A_ENST00000433881.1_Silent_p.I771I|PPP1R9A_ENST00000433360.1_Silent_p.I793I|PPP1R9A_ENST00000456331.2_Silent_p.I771I|PPP1R9A_ENST00000424654.1_Silent_p.I771I|PPP1R9A_ENST00000340694.4_Silent_p.I771I	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	771	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGAAGTTGATCAAGGATTTTC	0.353000										HNSCC(28;0.073)			34	14					0	0	0.000814825	0	0
PCSK5	5125	broad.mit.edu	37	9	78638698	78638698	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:78638698C>T	ENST00000545128.1	+	4	994	c.456C>T	c.(454-456)atC>atT	p.I152I	PCSK5_ENST00000376752.4_Silent_p.I152I|PCSK5_ENST00000376767.3_Silent_p.I152I	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	152	Catalytic.				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						ACATGAATATCGAAGGAGCCT	0.448000													25	43					0	0	0.00047179	0	0
KMT2A	4297	broad.mit.edu	37	11	118365450	118365450	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:118365450C>T	ENST00000534358.1	+	18	5354	c.5331C>T	c.(5329-5331)tcC>tcT	p.S1777S	KMT2A_ENST00000354520.4_Silent_p.S1736S|KMT2A_ENST00000389506.5_Silent_p.S1774S	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TCAAAAAGTCCAGGTTTTGGG	0.328000													17	31					0	0	0.00152264	0	0
MYO18B	84700	broad.mit.edu	37	22	26422532	26422532	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:26422532C>T	ENST00000335473.7	+	43	6842	c.6592C>T	c.(6592-6594)Cgc>Tgc	p.R2198C	MYO18B_ENST00000407587.2_Missense_Mutation_p.R2199C|MYO18B_ENST00000536101.1_Missense_Mutation_p.R2198C	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2198						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCACTTTGTCCGCCGGCAAAA	0.567000													17	135					0	0	0.000958276	0	0
ELTD1	64123	broad.mit.edu	37	1	79387305	79387305	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:79387305G>A	ENST00000370742.3	-	9	1313	c.1250C>T	c.(1249-1251)cCt>cTt	p.P417L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	417	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TACAATGGAAGGACCAGAGGA	0.358000													7	15					0	0	0.000157383	0	0
EPHB1	2047	broad.mit.edu	37	3	134851795	134851795	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:134851795C>T	ENST00000398015.3	+	5	1571	c.1201C>T	c.(1201-1203)Ccc>Tcc	p.P401S	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	401	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCCCACACCCCCTACACCTT	0.607000													12	20					0	0	0.000978159	0	0
FKBP15	23307	broad.mit.edu	37	9	115946644	115946644	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:115946644G>A	ENST00000238256.3	-	17	1761	c.1644C>T	c.(1642-1644)tcC>tcT	p.S548S		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	548					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GAATAAGCATGGAATTGCCAG	0.373000													9	12					0	0	0.000274275	0	0
FBLN5	10516	broad.mit.edu	37	14	92343867	92343867	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:92343867G>A	ENST00000267620.10	-	11	1441	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	FBLN5_ENST00000342058.4_Silent_p.I383I|FBLN5_ENST00000556154.1_Silent_p.I388I			Q9UBX5	FBLN5_HUMAN	fibulin 5	383					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TCCCAGATTTGATCTGGAAAA	0.552000													18	56					0	0	0.000958276	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50413430	50413430	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:50413430G>A	ENST00000435965.1	-	19	1910	c.1737C>T	c.(1735-1737)ttC>ttT	p.F579F	CACNA2D2_ENST00000360963.3_Silent_p.F510F|CACNA2D2_ENST00000266039.3_Silent_p.F579F|CACNA2D2_ENST00000423994.2_Silent_p.F579F|CACNA2D2_ENST00000424201.2_Silent_p.F579F|CACNA2D2_ENST00000395083.1_Silent_p.F579F|CACNA2D2_ENST00000479441.1_Silent_p.F579F|CACNA2D2_ENST00000429770.1_Silent_p.F579F			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	579					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CCGCATCCAGGAAGTCCAGAG	0.597000													23	82					0	0	0.00278032	0	0
KRT83	3889	broad.mit.edu	37	12	52714916	52714916	+	Silent	SNP	G	G	A	rs148290789		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:52714916G>A	ENST00000293670.3	-	1	266	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	68	Head.				epidermis development	keratin filament	structural molecule activity	p.F68F(1)		NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCGGTAGCCGAAGCTGCGTC	0.711000													20	34					0	0	0.00152264	0	0
SULT1C3	442038	broad.mit.edu	37	2	108872051	108872051	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:108872051C>T	ENST00000329106.2	+	4	423	c.423C>T	c.(421-423)ccC>ccT	p.P141P	SULT1C3_ENST00000376700.1_Silent_p.P141P	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	141						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCAGAAATCCCAAGGATTGCC	0.418000													12	47					0	0	0.000422831	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72137929	72137929	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:72137929C>T	ENST00000555818.1	+	8	2697	c.2349C>T	c.(2347-2349)ttC>ttT	p.F783F	SIPA1L1_ENST00000537413.1_Silent_p.F258F|SIPA1L1_ENST00000381232.3_Silent_p.F783F|SIPA1L1_ENST00000358550.2_Silent_p.F783F	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	783	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCAGGGACTTCCTTTTGGCGA	0.498000													97	89					0	0	0.000781405	0	0
EBF1	1879	broad.mit.edu	37	5	158141181	158141181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:158141181G>A	ENST00000313708.6	-	12	1417	c.1135C>T	c.(1135-1137)Ctc>Ttc	p.L379F	EBF1_ENST00000517373.1_Missense_Mutation_p.L371F|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.L348F	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	379					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCCTTTTGAGTATTACTTCC	0.488000			T	HMGA2	lipoma								68	124					0	0	0.000781405	0	0
ERLEC1	27248	broad.mit.edu	37	2	54028624	54028624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:54028624C>T	ENST00000185150.4	+	7	747	c.616C>T	c.(616-618)Ccc>Tcc	p.P206S	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000405123.3_Missense_Mutation_p.P206S|ERLEC1_ENST00000378239.5_Missense_Mutation_p.P206S|ASB3_ENST00000498475.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	206					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						ACAGAACCGGCCCAGATCAAG	0.368000													47	50					0	0	0.000781405	0	0
RNF152	220441	broad.mit.edu	37	18	59483414	59483414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:59483414G>A	ENST00000312828.3	-	2	1382	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	95					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CCATTGCTGGGAAGTTTGATG	0.647000													13	53					0	0	0.00185496	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209935880	209935880	+	Silent	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:209935880A>G	ENST00000367024.1	+	4	882	c.366A>G	c.(364-366)gaA>gaG	p.E122E	TRAF3IP3_ENST00000400959.3_Silent_p.E102E|TRAF3IP3_ENST00000367025.3_Silent_p.E122E|TRAF3IP3_ENST00000367026.3_Silent_p.E102E|TRAF3IP3_ENST00000010338.4_Silent_p.E102E			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	122						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CCAGCTCTGAAGTCTTTCCAG	0.567000													14	74					0	0	0.00244969	0	0
RNF17	56163	broad.mit.edu	37	13	25439062	25439062	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:25439062G>A	ENST00000255324.5	+	29	4079	c.4027G>A	c.(4027-4029)Gga>Aga	p.G1343R	RNF17_ENST00000339524.3_Intron|RNF17_ENST00000381921.1_Intron	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1343					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTATTTTGATGGAATGTCACT	0.289000													40	34					0	0	0.00170553	0	0
COL6A3	1293	broad.mit.edu	37	2	238272037	238272037	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:238272037G>A	ENST00000295550.4	-	14	6374	c.5922C>T	c.(5920-5922)gtC>gtT	p.V1974V	COL6A3_ENST00000353578.4_Silent_p.V1768V|COL6A3_ENST00000472056.1_Silent_p.V1367V|COL6A3_ENST00000346358.4_Silent_p.V1774V|COL6A3_ENST00000347401.3_Silent_p.V1773V|COL6A3_ENST00000409809.1_Silent_p.V1768V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1974	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCAAGGCACGGACTCCTGCAA	0.468000													24	45					0	0	0.00278032	0	0
FRMD7	90167	broad.mit.edu	37	X	131214289	131214289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:131214289C>T	ENST00000298542.4	-	10	1086	c.911G>A	c.(910-912)cGa>cAa	p.R304Q	FRMD7_ENST00000370879.1_Missense_Mutation_p.R184Q|FRMD7_ENST00000464296.1_Missense_Mutation_p.R289Q	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	304					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CCTTTGGGTTCGTCCACTATC	0.368000													22	1					0	0	0.00278032	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173883525	173883525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:173883525G>A	ENST00000264111.6	+	22	2334	c.2147G>A	c.(2146-2148)gGa>gAa	p.G716E	RAPGEF4_ENST00000409036.1_Missense_Mutation_p.G717E|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.G546E|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.G717E|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.G573E|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.G564E|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.G497E|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.G564E			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	717					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			ATGAGTTCCGGAGGAGGTAAC	0.502000													60	66					0	0	0.000781405	0	0
ASPHD2	57168	broad.mit.edu	37	22	26830175	26830175	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:26830175C>T	ENST00000215906.5	+	2	1032	c.594C>T	c.(592-594)atC>atT	p.I198I		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	198					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TCCAGACCATCCTGTGTGAGT	0.552000													22	62					0	0	0.000586117	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68935687	68935687	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:68935687G>A	ENST00000356291.2	-	6	612	c.553_splice	c.e6+1	p.R185_splice	RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	185					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TGGAACTTACGACTGTTGAGA	0.318000													107	75					0	0	0.000781405	0	0
CYP2C8	1558	broad.mit.edu	37	10	96824695	96824695	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:96824695G>A	ENST00000371270.3	-	4	598	c.504C>T	c.(502-504)ttC>ttT	p.F168F	CYP2C8_ENST00000539050.1_Silent_p.F82F|CYP2C8_ENST00000535898.1_Silent_p.F66F	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	168					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	AGCCCAGGATGAAAGTGGGAT	0.313000													12	33					0	0	0.00185496	0	0
SF3A1	10291	broad.mit.edu	37	22	30733846	30733846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:30733846G>A	ENST00000439242.1	-	12	1720	c.1589C>T	c.(1588-1590)cCc>cTc	p.P530L	SF3A1_ENST00000215793.7_Missense_Mutation_p.P595L	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	595					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GGGCATGACGGGTACTGCGGA	0.597000													56	52					0	0	0.000781405	0	0
HOOK1	51361	broad.mit.edu	37	1	60302572	60302572	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:60302572C>T	ENST00000371208.3	+	7	759	c.502C>T	c.(502-504)Cct>Tct	p.P168S	HOOK1_ENST00000395561.2_Missense_Mutation_p.P126S|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	168	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					ATTGAGCTCTCCTCCAAATGA	0.299000													17	52					0	0	0.000958276	0	0
NTRK3	4916	broad.mit.edu	37	15	88524488	88524488	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:88524488C>T	ENST00000317501.3	-	14	1850	c.1689G>A	c.(1687-1689)caG>caA	p.Q563Q	NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000540489.2_Silent_p.Q563Q|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000394480.1_Intron	NM_001007156.2	NP_001007157.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	0	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			cttccccactctggacctcag	0.408000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			10	3					0	0	0.000442599	0	0
LPHN3	23284	broad.mit.edu	37	4	62813848	62813848	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:62813848T>A	ENST00000512091.1	+	16	3202	c.2455T>A	c.(2455-2457)Tca>Aca	p.S819T	LPHN3_ENST00000506746.1_Missense_Mutation_p.S887T|LPHN3_ENST00000545650.1_Missense_Mutation_p.S819T|LPHN3_ENST00000504896.1_Missense_Mutation_p.S819T|LPHN3_ENST00000514996.1_Missense_Mutation_p.S819T|LPHN3_ENST00000514157.1_Missense_Mutation_p.S819T|LPHN3_ENST00000506700.1_Missense_Mutation_p.S819T|LPHN3_ENST00000508946.1_Missense_Mutation_p.S819T|LPHN3_ENST00000507164.1_Missense_Mutation_p.S887T|LPHN3_ENST00000514591.1_Missense_Mutation_p.S819T|LPHN3_ENST00000508693.1_Missense_Mutation_p.S887T|LPHN3_ENST00000506720.1_Missense_Mutation_p.S887T|LPHN3_ENST00000509896.1_Missense_Mutation_p.S887T|LPHN3_ENST00000507625.1_Missense_Mutation_p.S887T|LPHN3_ENST00000511324.1_Missense_Mutation_p.S887T			Q9HAR2	LPHN3_HUMAN	latrophilin 3	806	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCCTAACTGTTCATTTTGGAG	0.378000													6	19					0	0	0.00116845	0	0
IL17RA	23765	broad.mit.edu	37	22	17583051	17583051	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:17583051C>T	ENST00000319363.6	+	7	754	c.621C>T	c.(619-621)atC>atT	p.I207I		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	207					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		ACCCCAACATCACCGTGGAGA	0.577000													17	123					0	0	0.00074312	0	0
MGAM	8972	broad.mit.edu	37	7	141765395	141765395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:141765395G>A	ENST00000475668.2	+	39	4680	c.4626G>A	c.(4624-4626)atG>atA	p.M1542I	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1542	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGGCATGATGGAGTTCAGCC	0.532000													22	81					0	0	0.000878237	0	0
APOL5	80831	broad.mit.edu	37	22	36122920	36122920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:36122920C>T	ENST00000249044.2	+	3	805	c.805C>T	c.(805-807)Cct>Tct	p.P269S		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	269					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GAGACACATCCCTTTCTGGAC	0.542000													98	354					0	0	0.000781405	0	0
PTGS1	5742	broad.mit.edu	37	9	125140280	125140280	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:125140280C>T	ENST00000362012.2	+	3	202	c.197C>T	c.(196-198)cCc>cTc	p.P66L	PTGS1_ENST00000540753.1_Missense_Mutation_p.P41L|PTGS1_ENST00000373698.5_5'UTR|PTGS1_ENST00000223423.4_Missense_Mutation_p.P66L	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	66	EGF-like.				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TATTCCGGCCCCAACTGCACC	0.607000													13	67					0	0	0.00244969	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55052318	55052318	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:55052318G>A	ENST00000474759.1	+	35	3009	c.2961G>A	c.(2959-2961)ggG>ggA	p.G987G	CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Silent_p.G893G|CACNA2D3_ENST00000415676.2_Silent_p.G987G|CACNA2D3_ENST00000288197.5_Silent_p.G987G	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	987						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.G987>?(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGACTACAGGGAATATTGCTT	0.507000													11	10					0	0	0.00185496	0	0
PARP8	79668	broad.mit.edu	37	5	50056193	50056193	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:50056193G>A	ENST00000281631.5	+	5	500	c.342G>A	c.(340-342)ggG>ggA	p.G114G	PARP8_ENST00000511363.2_Intron|PARP8_ENST00000505554.1_Silent_p.G93G|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000505697.2_Silent_p.G114G|PARP8_ENST00000503750.2_Silent_p.G114G|PARP8_ENST00000514067.2_Silent_p.G114G	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	114						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AGGAAAATGGGGAGGTATGTA	0.229000													7	12					0	0	0.000157383	0	0
PCDH18	54510	broad.mit.edu	37	4	138453134	138453134	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:138453134C>T	ENST00000344876.4	-	1	495	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	PCDH18_ENST00000412923.2_Missense_Mutation_p.E37K|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	37	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACCCTCTGTTCCTCATAAATC	0.383000													22	49					0	0	0.00188189	0	0
FSHR	2492	broad.mit.edu	37	2	49244651	49244651	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:49244651C>T	ENST00000406846.2	-	4	470	c.351G>A	c.(349-351)caG>caA	p.Q117Q	FSHR_ENST00000346173.3_Silent_p.Q117Q|FSHR_ENST00000304421.4_Silent_p.Q117Q	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	117					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGGGAAGGTTCTGGAAGGCCT	0.393000									Gonadal Dysgenesis, 46 XX				11	15					0	0	0.00136819	0	0
CHAF1B	8208	broad.mit.edu	37	21	37785496	37785496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:37785496C>T	ENST00000314103.4	+	12	1527	c.1376C>T	c.(1375-1377)cCc>cTc	p.P459L		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	459					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GTCAAAAGCCCCTTGCCGGGG	0.637000													10	28					0	0	0.000442599	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99025842	99025842	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:99025842G>A	ENST00000453547.2	-	2	96	c.97C>T	c.(97-99)Ctt>Ttt	p.L33F	ARHGAP19_ENST00000371027.1_Missense_Mutation_p.L24F|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.L24F|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.L33F|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.L33F|ARHGAP19_ENST00000358531.4_Missense_Mutation_p.L33F																							TGACCTCGAAGGGAAGAATCA	0.398000													18	28					0	0	0.00121646	0	0
ADCK4	79934	broad.mit.edu	37	19	41208507	41208507	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:41208507G>A	ENST00000324464.3	-	10	1192	c.891C>T	c.(889-891)ttC>ttT	p.F297F	ADCK4_ENST00000243583.6_Silent_p.F256F|ADCK4_ENST00000450541.1_Silent_p.F256F	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	297	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CAGCTCACCTGAAATTCTGGG	0.642000													24	83					0	0	0.000878237	0	0
FAM171B	165215	broad.mit.edu	37	2	187626229	187626229	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:187626229A>T	ENST00000304698.5	+	8	1363	c.1160A>T	c.(1159-1161)aAa>aTa	p.K387I		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	387						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						ACTCCACAGAAAAGAGAAAGA	0.333000													21	75					0	0	0.00278032	0	0
C1orf173	127254	broad.mit.edu	37	1	75037352	75037352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:75037352C>T	ENST00000326665.5	-	14	4260	c.4042G>A	c.(4042-4044)Gaa>Aaa	p.E1348K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1348	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTGCCGTTTCACCACCTCCG	0.532000													59	72					0	0	0.000781405	0	0
OR4X1	390113	broad.mit.edu	37	11	48285953	48285953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:48285953C>T	ENST00000320048.1	+	1	541	c.541C>T	c.(541-543)Cca>Tca	p.P181S		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TGATGTCCACCCAGTGCTGGA	0.567000													8	15					0	0	0.000673444	0	0
MYH1	4619	broad.mit.edu	37	17	10416015	10416015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:10416015C>T	ENST00000226207.5	-	11	1085	c.991G>A	c.(991-993)Gag>Aag	p.E331K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	331	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCCATCAACTCTTCTTGGTCA	0.403000													37	37					0	0	0.00128727	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275995	130275995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:130275995G>A	ENST00000257359.6	-	9	2834	c.2128C>T	c.(2128-2130)Cca>Tca	p.P710S		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	710	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCACCAGCTGGGATGGTGACA	0.552000													23	28					0	0	0.00278032	0	0
ATG2A	23130	broad.mit.edu	37	11	64681835	64681835	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:64681835G>A	ENST00000421419.2	-	2	423	c.309C>T	c.(307-309)ctC>ctT	p.L103L	ATG2A_ENST00000377264.3_Silent_p.L103L			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	103							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GCTGCAAGGTGAGCTGGAGGC	0.711000													6	5					0	0	0.00198382	0	0
CDR1	1038	broad.mit.edu	37	X	139866342	139866342	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:139866342G>A	ENST00000370532.2	-	1	381	c.190C>T	c.(190-192)Ctg>Ttg	p.L64L		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	64	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				AGGTCTTCCAGGAAATCCGTG	0.443000													55	5					0	0	0.000781405	0	0
EP300	2033	broad.mit.edu	37	22	41523662	41523662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:41523662G>A	ENST00000263253.7	+	4	2297	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	360					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGCCAATGGGGAAGTGAGGCA	0.537000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				56	221					0	0	0.000781405	0	0
GRHL3	57822	broad.mit.edu	37	1	24663622	24663622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:24663622G>A	ENST00000361548.4	+	5	897	c.667G>A	c.(667-669)Gac>Aac	p.D223N	GRHL3_ENST00000342072.4_Missense_Mutation_p.D130N|GRHL3_ENST00000356046.2_Missense_Mutation_p.D177N|GRHL3_ENST00000236255.4_Missense_Mutation_p.D228N|GRHL3_ENST00000350501.5_Missense_Mutation_p.D223N	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	223					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		ATGTCCAGAGGACTACCCCAG	0.567000													10	32					0	0	0.000978159	0	0
DYX1C1	161582	broad.mit.edu	37	15	55789929	55789929	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:55789929C>T	ENST00000321149.3	-	3	619	c.252G>A	c.(250-252)gaG>gaA	p.E84E	DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000457155.2_Silent_p.E84E|DYX1C1_ENST00000348518.3_Silent_p.E84E|DYX1C1_ENST00000380679.1_Silent_p.E84E|DYX1C1_ENST00000448430.2_Silent_p.E84E	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	84	CS.|Mediates interaction with ESR1 and STUB1.				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		CAGAAAGGGTCTCCCACATGG	0.393000													25	71					0	0	0.00127121	0	0
OR8D1	283159	broad.mit.edu	37	11	124180576	124180576	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:124180576G>A	ENST00000357821.2	-	1	157	c.87C>T	c.(85-87)ctC>ctT	p.L29L		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CCAGGAACAGGAGGAAGAGGG	0.478000													14	28					0	0	0.00244969	0	0
CACNA1E	777	broad.mit.edu	37	1	181767716	181767716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:181767716G>A	ENST00000526775.1	+	46	6667	c.6502G>A	c.(6502-6504)Gag>Aag	p.E2168K	CACNA1E_ENST00000357570.5_Missense_Mutation_p.E2181K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E2187K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E2211K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E2230K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E2119K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1794K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2230					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						CTACATCTCCGAGCCCTACTT	0.612000													11	20					0	0	0.000978159	0	0
PARP8	79668	broad.mit.edu	37	5	50091143	50091143	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:50091143C>T	ENST00000281631.5	+	12	1478	c.1320C>T	c.(1318-1320)tcC>tcT	p.S440S	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Silent_p.S419S|PARP8_ENST00000514342.2_Silent_p.S193S|PARP8_ENST00000505697.2_Silent_p.S440S|PARP8_ENST00000503750.2_Silent_p.S440S|PARP8_ENST00000514067.2_Silent_p.S440S	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	440						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CCAAGTCATCCAAAACTGAGC	0.438000													27	19					0	0	0.00127121	0	0
IGHJ2	28481	broad.mit.edu	37	14	106331449	106331449	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:106331449G>A	ENST00000390564.2	-	0	11																											CCCAGAGATCGAAGTACCAGT	0.612000													4	17					0	0	0.00024832	0	0
DNAH9	1770	broad.mit.edu	37	17	11726309	11726309	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:11726309G>A	ENST00000262442.3	+	48	9272	c.9204G>A	c.(9202-9204)cgG>cgA	p.R3068R	DNAH9_ENST00000454412.2_Silent_p.R3068R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3068	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGACAGAGCGGTTGGAGAACG	0.552000													21	0					0	0	0.00152264	0	0
MYOM2	9172	broad.mit.edu	37	8	2056620	2056620	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:2056620C>T	ENST00000262113.4	+	24	3183	c.3043_splice	c.e24+1	p.P1014_splice	MYOM2_ENST00000523438.1_Splice_Site_p.P439_splice	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1014					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TAAAGAACCCCAGTAAGTAAG	0.468000													53	48					0	0	0.000781405	0	0
SIRPG	55423	broad.mit.edu	37	20	1617025	1617025	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:1617025C>T	ENST00000381580.1	-	3	637	c.458G>A	c.(457-459)gGg>gAg	p.G153E	SIRPG_ENST00000381583.2_Missense_Mutation_p.G186E|SIRPG_ENST00000344103.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000303415.3_Missense_Mutation_p.G186E|SIRPG_ENST00000216927.4_Missense_Mutation_p.G186E			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	186	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GAGCTCATTCCCATTTTTGAA	0.577000													26	59					0	0	0.00106085	0	0
ELTD1	64123	broad.mit.edu	37	1	79470843	79470843	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:79470843G>A	ENST00000370742.3	-	2	147	c.84C>T	c.(82-84)ctC>ctT	p.L28L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	28	EGF-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTGCATTTGGGAGACAAGGTG	0.343000													55	43					0	0	0.000781405	0	0
THEMIS	387357	broad.mit.edu	37	6	128134491	128134491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:128134491C>T	ENST00000368250.1	-	5	1556	c.1058G>A	c.(1057-1059)gGa>gAa	p.G353E	THEMIS_ENST00000537166.1_Missense_Mutation_p.G397E|THEMIS_ENST00000368248.2_Missense_Mutation_p.G432E|THEMIS_ENST00000543064.1_Missense_Mutation_p.G432E			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	432	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TACAAAACCTCCTTCCATGTA	0.443000													18	22					0	0	0.000958276	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146818223	146818223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:146818223G>A	ENST00000361727.3	+	6	1423	c.907G>A	c.(907-909)Gga>Aga	p.G303R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	303	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCGTACCAATGGAGAGTTTGA	0.473000										HNSCC(39;0.1)			15	71					0	0	0.000566183	0	0
ENPEP	2028	broad.mit.edu	37	4	111397858	111397858	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:111397858C>T	ENST00000265162.5	+	1	630	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	96					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.F96F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TGCCGGACTTCGTCAACCCAG	0.627000													25	62					0	0	0.000586117	0	0
BCL11A	53335	broad.mit.edu	37	2	60689025	60689025	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:60689025C>T	ENST00000335712.6	-	4	1249	c.1022G>A	c.(1021-1023)aGg>aAg	p.R341K	BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.R341K|BCL11A_ENST00000538214.1_Missense_Mutation_p.R307K|BCL11A_ENST00000358510.4_Missense_Mutation_p.R307K	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	341	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TTGCAGTAACCTTTGCATAGG	0.652000			T	IGH@	B-CLL								133	408					0	0	0.000781405	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42285015	42285015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:42285015G>A	ENST00000399518.3	-	13	1876	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.R435W|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	452	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CTGCGCTGCCGGAGCTCCTCC	0.582000													17	27					0	0	0.000566183	0	0
KCNH1	3756	broad.mit.edu	37	1	210970967	210970967	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:210970967C>T	ENST00000367007.4	-	9	1886	c.1717G>A	c.(1717-1719)Gtg>Atg	p.V573M	KCNH1_ENST00000271751.4_Missense_Mutation_p.V600M	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	600					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)		GCACAGTGCACCGTCTGGAAC	0.607000													15	78					0	0	0.00244969	0	0
YJEFN3	374887	broad.mit.edu	37	19	19646234	19646234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:19646234C>T	ENST00000555938.1	+	6	527	c.515C>T	c.(514-516)cCc>cTc	p.P172L	YJEFN3_ENST00000436027.4_Missense_Mutation_p.P123L|YJEFN3_ENST00000514277.3_Missense_Mutation_p.P173L																							ATGGACATCCCCTTCCTGAGC	0.642000													14	14					0	0	0.00244969	0	0
VENTX	27287	broad.mit.edu	37	10	135053291	135053291	+	Missense_Mutation	SNP	C	C	T	rs139243086		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:135053291C>T	ENST00000325980.9	+	2	864	c.353C>T	c.(352-354)cCt>cTt	p.P118L		NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	118					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		TACCTGAGCCCTCTGGAGCGG	0.677000													12	52					0	0	0.000308642	0	0
UPF2	26019	broad.mit.edu	37	10	12046533	12046533	+	Silent	SNP	G	G	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:12046533G>T	ENST00000356352.2	-	4	1973	c.1500C>A	c.(1498-1500)acC>acA	p.T500T	UPF2_ENST00000397053.2_Silent_p.T500T|UPF2_ENST00000357604.5_Silent_p.T500T			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	500					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ATTTACCTTTGGTATCATCTT	0.269000													9	191					0.000274275	0.00100609	0.000274275	1	0
GABRA3	2556	broad.mit.edu	37	X	151424268	151424268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:151424268G>A	ENST00000370314.4	-	5	771	c.533C>T	c.(532-534)aCc>aTc	p.T178I	GABRA3_ENST00000370311.1_Missense_Mutation_p.T178I|GABRA3_ENST00000535043.1_Missense_Mutation_p.T178I	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	178					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATAGAGGAGGGTTCCGTTGTC	0.478000													19	36					0	0	0.00152264	0	0
ADCY9	115	broad.mit.edu	37	16	4164539	4164539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:4164539G>A	ENST00000294016.3	-	2	1443	c.905C>T	c.(904-906)tCc>tTc	p.S302F		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	302					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCTCACCTGGGACATGACGAA	0.617000													47	19					0	0	0.000781405	0	0
ZNF419	79744	broad.mit.edu	37	19	58004510	58004510	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:58004510C>T	ENST00000424930.2	+	5	817	c.588C>T	c.(586-588)gcC>gcT	p.A196A	ZNF419_ENST00000442920.2_Silent_p.A182A|ZNF419_ENST00000415379.2_Silent_p.A149A|ZNF419_ENST00000354197.4_Silent_p.A183A|ZNF419_ENST00000347466.6_Silent_p.A163A|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000426954.2_Silent_p.A183A|ZNF419_ENST00000221735.7_Silent_p.A195A	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		GTAGGGAGGCCTTTCATGCTG	0.483000													12	26					0	0	0.000978159	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478427	14478427	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:14478427C>T	ENST00000581457.1	-	0	1481					NR_024076.1																						GGCGGCACATCTTCCCTGATA	0.458000													4	7					0	0	0.000602214	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51650079	51650079	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:51650079T>C	ENST00000317643.6	+	5	1165	c.1096T>C	c.(1096-1098)Ttc>Ctc	p.F366L	SIGLEC7_ENST00000305628.7_Missense_Mutation_p.F273L|SIGLEC7_ENST00000600577.1_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	366					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		AGCCCTGGTCTTCCTCTCCTT	0.587000													50	63					0	0	0.000781405	0	0
NT5E	4907	broad.mit.edu	37	6	86181079	86181079	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:86181079C>T	ENST00000257770.3	+	3	736	c.687C>T	c.(685-687)atC>atT	p.I229I	NT5E_ENST00000369651.3_Silent_p.I229I|NT5E_ENST00000369646.3_Silent_p.I229I	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	229					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	p.I229I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	ATAAACTCATCGCTCAGAAAG	0.408000													15	39					0	0	0.00121646	0	0
NPY4R	5540	broad.mit.edu	37	10	47086912	47086912	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:47086912C>T	ENST00000374312.1	+	3	548	c.129C>T	c.(127-129)ttC>ttT	p.F43F	NPY4R_ENST00000395716.1_Silent_p.F43F	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		TGATGGTCTTCATCGTCACTT	0.522000													52	117					0	0	0.000781405	0	0
CNTN5	53942	broad.mit.edu	37	11	100211914	100211914	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:100211914G>A	ENST00000524871.1	+	23	3297	c.3007G>A	c.(3007-3009)Gaa>Aaa	p.E1003K	CNTN5_ENST00000279463.3_Missense_Mutation_p.E1003K|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.E1003K|CNTN5_ENST00000418526.2_Missense_Mutation_p.E929K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1003	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATTAGCCAACGAATCTGAAGT	0.433000													22	41					0	0	0.00278032	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55002514	55002514	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:55002514G>A	ENST00000474759.1	+	28	2535	c.2487G>A	c.(2485-2487)agG>agA	p.R829R	CACNA2D3_ENST00000490478.1_Silent_p.R735R|CACNA2D3_ENST00000415676.2_Silent_p.R829R|CACNA2D3_ENST00000288197.5_Silent_p.R829R	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	829						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTTTCCAAAGGAAGTTCTGGA	0.378000													5	17					0	0	0.00198382	0	0
ADCY8	114	broad.mit.edu	37	8	131859744	131859744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:131859744C>T	ENST00000286355.5	-	11	4520	c.2428G>A	c.(2428-2430)Gac>Aac	p.D810N	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	810					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATCGACTTGTCAAAATCACAC	0.393000										HNSCC(32;0.087)			10	39					0	0	0.000978159	0	0
SAMD12	401474	broad.mit.edu	37	8	119391684	119391684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:119391684G>A	ENST00000314727.4	-	4	714	c.578C>T	c.(577-579)tCc>tTc	p.S193F	SAMD12_ENST00000409003.4_Intron|SAMD12_ENST00000527515.1_Intron|AC023590.1_ENST00000430457.1_Intron	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	193										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TTCTATGATGGAAATTCTGTG	0.378000													9	20					0	0	0.000978159	0	0
SLIT2	9353	broad.mit.edu	37	4	20525790	20525790	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:20525790C>T	ENST00000504154.1	+	14	1680	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	SLIT2_ENST00000273739.5_Silent_p.F480F|SLIT2_ENST00000503837.1_Silent_p.F480F|SLIT2_ENST00000503823.1_Silent_p.F476F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	476	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCAAGAAATTCCGTTGTTCAG	0.473000													22	68					0	0	0.00152264	0	0
IFNA5	3442	broad.mit.edu	37	9	21305016	21305016	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:21305016G>A	ENST00000259555.4	-	1	296	c.240C>T	c.(238-240)ctC>ctT	p.L80L		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	80					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCATCTCATGGAGGACAGAGA	0.468000													27	7					0	0	0.000720815	0	0
NLRP12	91662	broad.mit.edu	37	19	54313058	54313058	+	Missense_Mutation	SNP	C	C	T	rs139082917		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:54313058C>T	ENST00000324134.6	-	3	2023	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	NLRP12_ENST00000351894.4_Missense_Mutation_p.E619K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E619K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E619K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E619K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E619K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E619K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E619K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	619					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCTGGATCTCGTACAAGCAG	0.557000													32	89					0	0	0.00058488	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18574073	18574073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:18574073G>A	ENST00000380548.4	+	4	622	c.283G>A	c.(283-285)Gct>Act	p.A95T	ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.A95T|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.A95T|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.A95T|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.A95T|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.A95T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	95						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCAATGCTCAGCTCATAATGA	0.473000													35	7					0	0	0.00111076	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189571	58189571	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:58189571G>A	ENST00000318203.5	+	5	1297	c.600G>A	c.(598-600)tcG>tcA	p.S200S		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	200					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACAGTTCTTCGAAAACTACTC	0.403000													20	36					0	0	0.00152264	0	0
KCNT2	343450	broad.mit.edu	37	1	196205198	196205198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:196205198C>T	ENST00000367433.5	-	26	3243	c.3142G>A	c.(3142-3144)Gaa>Aaa	p.E1048K	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.E1006K|KCNT2_ENST00000294725.8_Missense_Mutation_p.E1072K|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1072						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCATTCATTTCATCTAGAAGA	0.333000													50	96					0	0	0.000781405	0	0
COL22A1	169044	broad.mit.edu	37	8	139712353	139712353	+	Splice_Site	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:139712353A>C	ENST00000303045.6	-	32	3039		c.e32+1		COL22A1_ENST00000435777.1_Splice_Site|COL22A1_ENST00000341807.4_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCTACTACTTACGGGCATCCG	0.557000										HNSCC(7;0.00092)			5	22					0	0	0.000157383	0	0
PRR16	51334	broad.mit.edu	37	5	120021865	120021865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:120021865C>T	ENST00000379551.2	+	3	664	c.307C>T	c.(307-309)Cct>Tct	p.P103S	PRR16_ENST00000505123.1_Missense_Mutation_p.P56S|PRR16_ENST00000407149.2_Missense_Mutation_p.P126S|PRR16_ENST00000446965.1_Missense_Mutation_p.P56S	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	126	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TCCACCACCTCCTCCAAGGTT	0.512000													26	16					0	0	0.00127121	0	0
C5orf51	285636	broad.mit.edu	37	5	41909989	41909989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:41909989C>T	ENST00000381647.2	+	3	368	c.349C>T	c.(349-351)Cca>Tca	p.P117S	C5orf51_ENST00000505931.2_3'UTR	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	117										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TAATATGCATCCAAAAGTAAG	0.308000													5	24					0	0	0.000602214	0	0
DDX1	1653	broad.mit.edu	37	2	15763586	15763586	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:15763586C>T	ENST00000381341.2	+	20	1863	c.1474C>T	c.(1474-1476)Ctg>Ttg	p.L492L	DDX1_ENST00000233084.3_Silent_p.L492L			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	492	Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TATTAAAATCCTGAAAGGGGA	0.353000													17	36					0	0	0.000958276	0	0
ADAM28	10863	broad.mit.edu	37	8	24201093	24201093	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:24201093C>T	ENST00000265769.4	+	18	2096	c.1986C>T	c.(1984-1986)gtC>gtT	p.V662V	ADAM28_ENST00000397649.3_Silent_p.V409V|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	662					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCTCAGTGGTCTTCCGTAGGT	0.448000													7	11					0	0	0.00198382	0	0
GRAMD3	65983	broad.mit.edu	37	5	125809035	125809035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:125809035C>T	ENST00000285689.3	+	5	922	c.461C>T	c.(460-462)tCc>tTc	p.S154F	GRAMD3_ENST00000511134.1_Missense_Mutation_p.S138F|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000543198.1_Missense_Mutation_p.S131F|GRAMD3_ENST00000502348.1_Missense_Mutation_p.S45F|GRAMD3_ENST00000542322.1_Missense_Mutation_p.S162F|GRAMD3_ENST00000544396.1_Missense_Mutation_p.S50F|GRAMD3_ENST00000515200.1_Missense_Mutation_p.S131F|GRAMD3_ENST00000513040.1_Missense_Mutation_p.S169F	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	154	GRAM.									breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		TGTTTTCATTCCAAAGTCTTT	0.299000													16	51					0	0	0.00074312	0	0
PTPN1	5770	broad.mit.edu	37	20	49195842	49195842	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:49195842C>T	ENST00000371621.3	+	7	1014	c.840C>T	c.(838-840)ttC>ttT	p.F280F	PTPN1_ENST00000541713.1_Silent_p.F207F	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	280					blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	GTGCCAAATTCATCATGGGGG	0.483000													62	206					0	0	0.000781405	0	0
BAX	581	broad.mit.edu	37	19	49459484	49459484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:49459484C>T	ENST00000293288.8	+	4	263	c.263C>T	c.(262-264)cCc>cTc	p.P88L	BAX_ENST00000345358.7_Missense_Mutation_p.P88L|BAX_ENST00000539787.1_Missense_Mutation_p.P88L|BAX_ENST00000391871.3_3'UTR|BAX_ENST00000415969.2_Missense_Mutation_p.P88L|BAX_ENST00000354470.3_Missense_Mutation_p.P39L	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	88					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		ACAGACTCCCCCCGAGAGGTC	0.577000													20	100					0	0	0.000586117	0	0
ITGA1	3672	broad.mit.edu	37	5	52189578	52189578	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:52189578G>A	ENST00000282588.6	+	9	1455	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	333	VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AATTGCAAGTGAACCCACTGA	0.373000													14	55					0	0	0.00244969	0	0
PLCL2	23228	broad.mit.edu	37	3	17053427	17053427	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:17053427C>T	ENST00000418129.2	+	2	2676	c.2211C>T	c.(2209-2211)tcC>tcT	p.S737S	PLCL2_ENST00000396755.2_Silent_p.S737S|PLCL2_ENST00000432376.1_Silent_p.S737S	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	863					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CCCTGCAGTCCTTAACTGGAG	0.483000													29	96					0	0	0.000814825	0	0
FLAD1	80308	broad.mit.edu	37	1	154960578	154960578	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:154960578C>T	ENST00000368431.3	+	3	893	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	FLAD1_ENST00000315144.10_Intron|FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000487371.1_Intron|FLAD1_ENST00000405236.2_Nonsense_Mutation_p.Q25*|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000368433.1_Intron|FLAD1_ENST00000292180.3_Intron	NM_001184892.1	NP_001171821.1	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	124					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTTCAACCCCCAGGGACACAC	0.557000													112	77					0	0	0.000781405	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611407	84611407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:84611407G>A	ENST00000286744.5	+	18	2401	c.2177G>A	c.(2176-2178)cGa>cAa	p.R726Q	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R726Q	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	726	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATTCAGACCCGAGATGTGTAC	0.537000													10	41					0	0	0.000978159	0	0
PXDN	7837	broad.mit.edu	37	2	1652631	1652631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:1652631C>T	ENST00000252804.4	-	17	2971	c.2921G>A	c.(2920-2922)gGg>gAg	p.G974E		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	974					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCGGTGGTCCCCGGCCAGGAA	0.697000													12	4					0	0	0.00185496	0	0
MEGF8	1954	broad.mit.edu	37	19	42863316	42863316	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:42863316T>A	ENST00000334370.4	+	30	5844	c.5209T>A	c.(5209-5211)Tcg>Acg	p.S1737T	MEGF8_ENST00000251268.6_Missense_Mutation_p.S1804T	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1804						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGGGGGGCGCTCGGACCCTGA	0.652000													6	7					0	0	0.000157383	0	0
IL17A	3605	broad.mit.edu	37	6	52054084	52054084	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:52054084G>A	ENST00000340057.1	+	3	507	c.462G>A	c.(460-462)gtG>gtA	p.V154V		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	154					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					TCCACCATGTGGCCTAAGAGC	0.597000													11	12					0	0	0.000978159	0	0
PTPRT	11122	broad.mit.edu	37	20	40739032	40739032	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:40739032G>A	ENST00000373198.3	-	24	3496	c.3261C>T	c.(3259-3261)ttC>ttT	p.F1087F	PTPRT_ENST00000373184.1_Silent_p.F1075F|PTPRT_ENST00000356100.2_Silent_p.F1074F|PTPRT_ENST00000373187.1_Silent_p.F1065F|PTPRT_ENST00000373190.1_Silent_p.F1064F|PTPRT_ENST00000373193.3_Silent_p.F1068F|PTPRT_ENST00000373201.1_Silent_p.F1055F	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1065	Substrate binding (By similarity).|Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCTGGCGGACGAAGCCCAGAA	0.622000													34	15					0	0	0.000814825	0	0
IFNA21	3452	broad.mit.edu	37	9	21166166	21166166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:21166166C>T	ENST00000380225.1	-	1	493	c.446G>A	c.(445-447)aGa>aAa	p.R149K		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	149					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AAGAGTGATTCTTTGGAAGTA	0.448000													47	8					0	0	0.000781405	0	0
LRIG3	121227	broad.mit.edu	37	12	59271441	59271441	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:59271441G>A	ENST00000320743.3	-	15	2563	c.2277C>T	c.(2275-2277)gtC>gtT	p.V759V	LRIG3_ENST00000379141.4_Silent_p.V699V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	759	Ig-like C2-type 3.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CAGCATCACTGACATCTGAGT	0.498000			T	ROS1	NSCLC								81	46					0	0	0.000781405	0	0
LVRN	206338	broad.mit.edu	37	5	115327846	115327846	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:115327846A>C	ENST00000357872.4	+	5	1256	c.1132A>C	c.(1132-1134)Aac>Cac	p.N378H	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		378					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TAGTTTTGACAACCATGCAAT	0.313000													24	51					0	0	0.00106085	0	0
GLIS1	148979	broad.mit.edu	37	1	54060405	54060405	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:54060405G>A	ENST00000312233.2	-	3	737	c.171C>T	c.(169-171)ctC>ctT	p.L57L		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	57					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TGCCCTCGGGGAGGTGGGTCT	0.701000													14	11					0	0	0.00244969	0	0
ZNF446	55663	broad.mit.edu	37	19	58988735	58988735	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:58988735G>A	ENST00000596341.1	+	2	2370	c.150G>A	c.(148-150)ctG>ctA	p.L50L	ZNF446_ENST00000594369.1_Silent_p.L50L|ZNF446_ENST00000335841.4_Silent_p.L50L			Q9NWS9	ZN446_HUMAN	zinc finger protein 446	50	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TGCGTGAGCTGTGTTGCCAGT	0.657000													51	46					0	0	0.000781405	0	0
TSC2	7249	broad.mit.edu	37	16	2129313	2129313	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:2129313G>A	ENST00000219476.3	+	28	3798	c.3168G>A	c.(3166-3168)agG>agA	p.R1056R	TSC2_ENST00000382538.6_Silent_p.R964R|TSC2_ENST00000401874.2_Silent_p.R1012R|TSC2_ENST00000568454.1_Silent_p.R1023R|TSC2_ENST00000439673.2_Silent_p.R976R|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000350773.4_Silent_p.R1056R|TSC2_ENST00000353929.4_Silent_p.R1013R	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1056					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CGGGTGGCAGGACCAAAACCT	0.642000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				43	23					0	0	0.000781405	0	0
PTHLH	5744	broad.mit.edu	37	12	28116390	28116390	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:28116390T>C	ENST00000535992.1	-	3	761	c.415A>G	c.(415-417)Aaa>Gaa	p.K139E	PTHLH_ENST00000539239.1_Missense_Mutation_p.K139E|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395868.3_Missense_Mutation_p.K139E|PTHLH_ENST00000201015.4_Missense_Mutation_p.K139E|PTHLH_ENST00000538310.1_Missense_Mutation_p.K139E|PTHLH_ENST00000395872.1_Missense_Mutation_p.K139E|PTHLH_ENST00000354417.3_Missense_Mutation_p.K139E|PTHLH_ENST00000545234.1_Missense_Mutation_p.K139E			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	139					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					CGCCGTTTTTTCTTTTCCTGC	0.542000													14	40					0	0	0.000422831	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623645	21623645	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:21623645G>A	ENST00000304418.3	-	1	577	c.540C>T	c.(538-540)ccC>ccT	p.P180P		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		AGTAGAGCAGGGGGTTACAAA	0.517000													8	18					0	0	0.000157383	0	0
TMEM156	80008	broad.mit.edu	37	4	38995404	38995404	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:38995404C>T	ENST00000381938.3	-	3	680	c.573G>A	c.(571-573)ccG>ccA	p.P191P		NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	191						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TACAATCATTCGGGTATTCCA	0.353000													32	64					0	0	0.00178596	0	0
SLC45A1	50651	broad.mit.edu	37	1	8399557	8399557	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:8399557C>T	ENST00000471889.1	+	8	2164	c.1779C>T	c.(1777-1779)atC>atT	p.I593I	SLC45A1_ENST00000377479.2_Silent_p.I627I|SLC45A1_ENST00000289877.8_Silent_p.I593I			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	593					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCAGCTATCCTGGAGAAGC	0.652000													31	39					0	0	0.00209593	0	0
POU6F2	11281	broad.mit.edu	37	7	39504103	39504103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:39504103C>T	ENST00000518318.2	+	10	1828	c.1786C>T	c.(1786-1788)Cct>Tct	p.P596S	POU6F2_ENST00000403058.1_Missense_Mutation_p.P632S|POU6F2_ENST00000559001.1_Missense_Mutation_p.P577S			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	632					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GAACACACACCCTTCTGGGCA	0.502000													6	24					0	0	0.00198382	0	0
MYO15A	51168	broad.mit.edu	37	17	18042919	18042919	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:18042919G>A	ENST00000205890.5	+	19	5543	c.5205G>A	c.(5203-5205)cgG>cgA	p.R1735R	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1735	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TACGGAGCCGGACACGGGTAA	0.637000													11	13					0	0	0.00136819	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121734	38121734	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:38121734C>T	ENST00000406386.3	+	7	3426	c.3171C>T	c.(3169-3171)ccC>ccT	p.P1057P	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1057					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACGAGCCTCCCTATATACCAC	0.657000													22	172					0	0	0.00278032	0	0
CACNA1I	8911	broad.mit.edu	37	22	40069009	40069009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:40069009G>A	ENST00000336649.4	+	31	4723	c.4723G>A	c.(4723-4725)Gag>Aag	p.E1575K	CACNA1I_ENST00000407673.1_Missense_Mutation_p.E1534K|CACNA1I_ENST00000402142.3_Missense_Mutation_p.E1569K|CACNA1I_ENST00000404898.1_Missense_Mutation_p.E1534K|CACNA1I_ENST00000401624.1_Missense_Mutation_p.E1569K|CACNA1I_ENST00000400164.3_Missense_Mutation_p.E1534K			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1569					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CATCACCCTGGAGGAGATCGA	0.602000													77	88					0	0	0.000781405	0	0
UNC45B	146862	broad.mit.edu	37	17	33503017	33503017	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:33503017G>A	ENST00000268876.5	+	15	2092	c.1995G>A	c.(1993-1995)aaG>aaA	p.K665K	UNC45B_ENST00000591048.1_Silent_p.K584K|UNC45B_ENST00000433649.1_Silent_p.K663K|UNC45B_ENST00000394570.2_Silent_p.K663K|UNC45B_ENST00000378449.1_Silent_p.K584K	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	665					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ACAACCCAAAGGACCGAGGCA	0.547000													31	75					0	0	0.00283554	0	0
FMN2	56776	broad.mit.edu	37	1	240371584	240371584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:240371584C>T	ENST00000319653.9	+	5	3702	c.3472C>T	c.(3472-3474)Ccc>Tcc	p.P1158S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1158	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCCCCCACTTCCCGGAGCGGG	0.706000													3	6					0	0	6.4e-05	0	0
PPDPF	79144	broad.mit.edu	37	20	62152912	62152912	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:62152912T>G	ENST00000370179.3	+	3	299	c.103T>G	c.(103-105)Tgc>Ggc	p.C35G	PPDPF_ENST00000473620.1_3'UTR|PPDPF_ENST00000370177.1_Missense_Mutation_p.C35G	NM_024299.2	NP_077275.1	Q9H3Y8	PPDPF_HUMAN	pancreatic progenitor cell differentiation and proliferation factor	35					cell differentiation|multicellular organismal development					kidney(1)|lung(2)|ovary(1)	4						CAGTACCGAGTGCCCCGGGGA	0.687000													12	49					0	0	0.00136819	0	0
COL11A1	1301	broad.mit.edu	37	1	103427757	103427757	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:103427757C>A	ENST00000358392.2	-	40	3442	c.3125G>T	c.(3124-3126)gGg>gTg	p.G1042V	COL11A1_ENST00000512756.1_Missense_Mutation_p.G914V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G991V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1030V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1030	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)		ACCTCTTTCCCCTGGGAAACC	0.383000													72	124					4.81439e-37	1.78784e-36	0.000781405	1	0
SEC14L3	266629	broad.mit.edu	37	22	30866032	30866032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:30866032G>A	ENST00000403066.1	-	5	314	c.31C>T	c.(31-33)Cat>Tat	p.H11Y	SEC14L3_ENST00000402286.1_5'UTR|SEC14L3_ENST00000401751.1_Missense_Mutation_p.H11Y|SEC14L3_ENST00000540910.1_5'UTR|SEC14L3_ENST00000215812.4_Missense_Mutation_p.H70Y|SEC14L3_ENST00000539629.1_Missense_Mutation_p.H11Y|SEC14L3_ENST00000415957.2_Missense_Mutation_p.H11Y			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	70						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TCAAGGATATGGTCAATATCC	0.537000													155	156					0	0	0.000781405	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837822	93837822	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:93837822C>T	ENST00000315765.9	+	16	2819	c.2811C>T	c.(2809-2811)tcC>tcT	p.S937S		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	937	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGAATGAATCCTGGTATCTGG	0.353000													46	45					0	0	0.000781405	0	0
RIF1	55183	broad.mit.edu	37	2	152321761	152321761	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:152321761C>T	ENST00000243326.4	+	29	6210	c.5727C>T	c.(5725-5727)tcC>tcT	p.S1909S	RIF1_ENST00000444746.2_Silent_p.S1909S|RIF1_ENST00000453091.2_Silent_p.S1909S|RIF1_ENST00000428287.2_Silent_p.S1909S|RIF1_ENST00000430328.2_Silent_p.S1909S			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1909					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TAACAGAATCCAATCTAGAGA	0.363000													31	101					0	0	0.00283554	0	0
SP140	11262	broad.mit.edu	37	2	231103072	231103072	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:231103072G>A	ENST00000392045.3	+	3	496	c.382G>A	c.(382-384)Gag>Aag	p.E128K	SP140_ENST00000343805.6_Missense_Mutation_p.E128K|SP140_ENST00000373645.3_Missense_Mutation_p.E128K|SP140_ENST00000417495.3_Missense_Mutation_p.E128K|SP140_ENST00000544128.1_3'UTR|SP140_ENST00000350136.5_Missense_Mutation_p.E108K|SP140_ENST00000486687.2_Missense_Mutation_p.E128K|SP140_ENST00000420434.3_Missense_Mutation_p.E128K	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	128	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGATTTAAACGAGATTTACAG	0.408000													24	30					0	0	0.000720815	0	0
DNAH11	8701	broad.mit.edu	37	7	21856193	21856193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:21856193G>A	ENST00000328843.6	+	65	10493	c.10462G>A	c.(10462-10464)Gaa>Aaa	p.E3488K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E3481K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3488	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATGTCCACCGAAAATGCCGC	0.493000									Kartagener syndrome				15	5					0	0	0.00244969	0	0
BSN	8927	broad.mit.edu	37	3	49695089	49695089	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:49695089C>T	ENST00000296452.4	+	5	8214	c.8100C>T	c.(8098-8100)atC>atT	p.I2700I		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2700					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGGTGGAGATCGTCAGGTACA	0.652000													25	83					0	0	0.001512	0	0
NMUR2	56923	broad.mit.edu	37	5	151784643	151784643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:151784643G>A	ENST00000255262.3	-	1	197	c.32C>T	c.(31-33)tCc>tTc	p.S11F	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	11					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GTAGATCCAGGAAGCATTCTG	0.498000													25	86					0	0	0.00106085	0	0
SEZ6	124925	broad.mit.edu	37	17	27308582	27308582	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:27308582G>A	ENST00000317338.12	-	2	959	c.531C>T	c.(529-531)ccC>ccT	p.P177P	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Silent_p.P177P|SEZ6_ENST00000442608.3_Silent_p.P177P|SEZ6_ENST00000360295.9_Silent_p.P177P			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	177	Pro-rich.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			AGGCTCTGCTGGGGGGTGTAG	0.642000													5	16					0	0	0.000602214	0	0
OCRL	4952	broad.mit.edu	37	X	128691384	128691384	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:128691384C>T	ENST00000371113.4	+	5	486	c.321C>T	c.(319-321)ttC>ttT	p.F107F	OCRL_ENST00000357121.5_Silent_p.F107F|OCRL_ENST00000486673.1_3'UTR	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	107					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GTTTGAAGTTCCTCTCAGCTG	0.453000													25	30					0	0	0.00127121	0	0
BEST3	144453	broad.mit.edu	37	12	70088168	70088168	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:70088168G>A	ENST00000330891.5	-	3	455	c.229C>T	c.(229-231)Cca>Tca	p.P77S	BEST3_ENST00000553096.1_Intron|BEST3_ENST00000266661.4_Intron|BEST3_ENST00000551160.1_5'UTR|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000331471.4_Missense_Mutation_p.P77S	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	77						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AAGGTTACTGGAATTTGTTCA	0.403000													14	11					0	0	0.00244969	0	0
KIAA1257	57501	broad.mit.edu	37	3	128696984	128696984	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:128696984C>T	ENST00000265068.5	-	5	879	c.712G>A	c.(712-714)Ggc>Agc	p.G238S	KIAA1257_ENST00000515659.1_Missense_Mutation_p.G126S|KIAA1257_ENST00000511438.1_Missense_Mutation_p.G238S|KIAA1257_ENST00000510149.1_5'UTR	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	238										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TTCTCAATGCCCTGTTCAGAT	0.368000													23	62					0	0	0.000720815	0	0
RLTPR	146206	broad.mit.edu	37	16	67681495	67681495	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:67681495G>A	ENST00000334583.6	+	11	1189	c.861G>A	c.(859-861)ctG>ctA	p.L287L	RLTPR_ENST00000545661.1_Silent_p.L287L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	287										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGAACCTGCTGGATGACCGAG	0.672000													5	3					0	0	0.00198382	0	0
MEGF6	1953	broad.mit.edu	37	1	3417791	3417791	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:3417791G>A	ENST00000356575.4	-	19	2622	c.2396C>T	c.(2395-2397)aCc>aTc	p.T799I	MEGF6_ENST00000294599.4_Missense_Mutation_p.T694I	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	799	EGF-like 13.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCAGGCTCCGGTCTCAGGGTC	0.697000													5	25					0	0	0.00116845	0	0
COL4A2	1284	broad.mit.edu	37	13	111090369	111090369	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:111090369G>A	ENST00000360467.5	+	14	1152	c.846G>A	c.(844-846)ggG>ggA	p.G282G		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	282	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GCAGTGAGGGGGAACCAGGAA	0.493000													44	3					0	0	0.000781405	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76555069	76555069	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:76555069G>A	ENST00000307431.8	+	17	2780	c.2395G>A	c.(2395-2397)Gag>Aag	p.E799K	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.E803K|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.E727K|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.E751K	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	800	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTTTGATACCGAGGCTTCATA	0.323000													43	93					0	0	0.000781405	0	0
SCN10A	6336	broad.mit.edu	37	3	38753784	38753784	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:38753784G>A	ENST00000449082.2	-	22	3956	c.3957C>T	c.(3955-3957)tcC>tcT	p.S1319S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1319					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AAGGTACAAGGGAAAACTCTC	0.448000													28	101					0	0	0.00209593	0	0
KPNA2	3838	broad.mit.edu	37	17	66039435	66039435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:66039435C>T	ENST00000537025.2	+	7	1506	c.886C>T	c.(886-888)Ccc>Tcc	p.P296S	KPNA2_ENST00000330459.3_Missense_Mutation_p.P296S			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	296					DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGGAGTTGTGCCCCAACTTGT	0.423000													88	437					0	0	0.000781405	0	0
LRP2	4036	broad.mit.edu	37	2	170062083	170062083	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:170062083A>C	ENST00000263816.3	-	41	7906	c.7621T>G	c.(7621-7623)Ttc>Gtc	p.F2541V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2541					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGTACGCGGAAGTTTCCTCCC	0.488000													16	48					0	0	0.000566183	0	0
MME	4311	broad.mit.edu	37	3	154836577	154836577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:154836577G>A	ENST00000460393.1	+	8	817	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	MME_ENST00000493237.1_Missense_Mutation_p.E233K|MME_ENST00000360490.2_Missense_Mutation_p.E233K|MME_ENST00000492661.1_Missense_Mutation_p.E233K|MME_ENST00000462745.1_Missense_Mutation_p.E233K	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	233					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)	AGATTACTATGAATGCACTGG	0.284000													9	7					0	0	0.00136819	0	0
SEMA6A	57556	broad.mit.edu	37	5	115783050	115783050	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:115783050G>A	ENST00000343348.6	-	19	3139	c.2352C>T	c.(2350-2352)atC>atT	p.I784I	SEMA6A_ENST00000513137.1_Silent_p.I211I|SEMA6A_ENST00000510263.1_Silent_p.I784I|SEMA6A_ENST00000257414.8_Silent_p.I801I|SEMA6A_ENST00000282394.6_Silent_p.I261I|SEMA6A_ENST00000503865.1_Silent_p.I163I	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	784					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGCAGGCATTGATGAGGTTCT	0.677000													17	35					0	0	0.000566183	0	0
LOC154761	154761	broad.mit.edu	37	7	143510098	143510098	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:143510098G>A	ENST00000494978.1	-	0	1480					NR_015421.1																						CCAAGGCCAGGAAGCTATCTC	0.557000													12	35					0	0	0.000308642	0	0
VCAN	1462	broad.mit.edu	37	5	82834193	82834193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:82834193C>T	ENST00000265077.3	+	8	5936	c.5371C>T	c.(5371-5373)Cct>Tct	p.P1791S	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.P804S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1791	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGATTCTACTCCTGTCTTTAC	0.433000													9	21					0	0	0.000673444	0	0
CXCR1	3577	broad.mit.edu	37	2	219029419	219029419	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:219029419G>A	ENST00000295683.2	-	2	636	c.516C>T	c.(514-516)ttC>ttT	p.F172F		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	172					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GGCGGAAAAGGAAGAAGGGCA	0.517000													13	27					0	0	0.000308642	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130381225	130381225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:130381225G>A	ENST00000529410.1	+	12	1283	c.804G>A	c.(802-804)atG>atA	p.M268I	L3MBTL3_ENST00000526019.1_Missense_Mutation_p.M243I|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.M243I|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.M243I|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.M268I|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.M268I			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	268					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AAGTTGGCATGAAATTAGAAG	0.393000													19	14					0	0	0.00278032	0	0
COL1A1	1277	broad.mit.edu	37	17	48264133	48264133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:48264133C>T	ENST00000225964.5	-	48	3800	c.3682G>A	c.(3682-3684)Gac>Aac	p.D1228N		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1228					axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACCTCGAGGTCACGGTCACGA	0.622000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						40	125					0	0	0.000781405	0	0
CLVS1	157807	broad.mit.edu	37	8	62212699	62212699	+	Silent	SNP	C	C	T	rs149356822		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:62212699C>T	ENST00000519846.1	+	3	785	c.313C>T	c.(313-315)Ctg>Ttg	p.L105L	CLVS1_ENST00000325897.4_Silent_p.L105L|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	105					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCAGCTAAACCTGGACATGTT	0.517000													9	18					0	0	0.000274275	0	0
KCNH7	90134	broad.mit.edu	37	2	163693155	163693155	+	Missense_Mutation	SNP	C	C	T	rs138091231		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:163693155C>T	ENST00000332142.5	-	2	298	c.199G>A	c.(199-201)Gac>Aac	p.D67N	KCNH7_ENST00000328032.4_Missense_Mutation_p.D67N	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	67	PAS.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGGAGAAAGTCGCAGGTGCAT	0.507000													9	42					0	0	0.000442599	0	0
ITGB5	3693	broad.mit.edu	37	3	124515542	124515542	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:124515542C>T	ENST00000296181.4	-	10	1682	c.1386G>A	c.(1384-1386)acG>acA	p.T462T	ITGB5_ENST00000488466.1_5'UTR	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	462					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TGCAGCCGCACGTGCAGTTGT	0.672000													12	18					0	0	0.00136819	0	0
LIPK	643414	broad.mit.edu	37	10	90486613	90486613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:90486613G>A	ENST00000404190.1	+	2	167	c.167G>A	c.(166-168)gGt>gAt	p.G56D		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	56					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		ACAAAAGATGGTTATATCCTT	0.333000													5	9					0	0	0.000157383	0	0
GALNT8	26290	broad.mit.edu	37	12	4855377	4855377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:4855377G>A	ENST00000252318.2	+	6	1463	c.1126G>A	c.(1126-1128)Ggt>Agt	p.G376S		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	376	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GTCTCTGGATGGTGGAATGCT	0.493000													23	48					0	0	0.00229938	0	0
LEPREL1	55214	broad.mit.edu	37	3	189706745	189706745	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:189706745C>T	ENST00000319332.5	-	4	1103	c.906G>A	c.(904-906)gaG>gaA	p.E302E	LEPREL1_ENST00000427335.2_Silent_p.E121E	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	302					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GAAGAAAATTCTCGATGGGAG	0.498000													22	48					0	0	0.00229938	0	0
ABCA13	154664	broad.mit.edu	37	7	48288868	48288868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:48288868C>T	ENST00000435803.1	+	15	1949	c.1925C>T	c.(1924-1926)gCc>gTc	p.A642V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	642					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TATTGGAAAGCCTTCAAAAAG	0.328000													11	84					0	0	0.00136819	0	0
SCAND3	114821	broad.mit.edu	37	6	28540782	28540782	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:28540782A>G	ENST00000452236.2	-	4	3501	c.2884T>C	c.(2884-2886)Ttt>Ctt	p.F962L		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	962					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						caaaatttaaattccaaacca	0.368000													11	26					0	0	0.000673444	0	0
INSC	387755	broad.mit.edu	37	11	15197305	15197305	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:15197305G>A	ENST00000379554.3	+	3	262	c.216G>A	c.(214-216)gtG>gtA	p.V72V	INSC_ENST00000530161.1_Silent_p.V25V|INSC_ENST00000379556.3_Silent_p.V25V|INSC_ENST00000528567.1_Silent_p.V25V|INSC_ENST00000525218.1_Silent_p.V25V|INSC_ENST00000424273.1_Silent_p.V25V	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	72					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TGATGCAGGTGGACTCAGTCC	0.512000													5	20					0	0	0.000602214	0	0
BACH2	60468	broad.mit.edu	37	6	90660443	90660443	+	Missense_Mutation	SNP	G	G	A	rs144153232		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:90660443G>A	ENST00000257749.4	-	7	2089	c.1382C>T	c.(1381-1383)cCg>cTg	p.P461L	BACH2_ENST00000343122.3_Missense_Mutation_p.P461L|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.P461L	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	461						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CTTTGGCACCGGCTCAGAGAG	0.617000													24	18					0	0	0.000878237	0	0
ZNF439	90594	broad.mit.edu	37	19	11978400	11978400	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:11978400C>T	ENST00000304030.2	+	3	716	c.516C>T	c.(514-516)tcC>tcT	p.S172S	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Silent_p.S36S	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						ATCACCCCTCCTTGAGAACAC	0.413000													24	105					0	0	0.00278032	0	0
AGBL2	79841	broad.mit.edu	37	11	47711717	47711717	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:47711717G>A	ENST00000525123.1	-	10	1827	c.1542C>T	c.(1540-1542)tcC>tcT	p.S514S	AGBL2_ENST00000528244.1_Silent_p.S476S|AGBL2_ENST00000357610.3_Silent_p.S514S|AGBL2_ENST00000298861.4_Silent_p.S514S|AGBL2_ENST00000529712.1_5'UTR	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	514					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TTCCGGCCAAGGAACACCGAT	0.443000													15	26					0	0	0.000422831	0	0
KCNF1	3754	broad.mit.edu	37	2	11053071	11053071	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:11053071G>A	ENST00000295082.1	+	1	1009	c.519G>A	c.(517-519)gaG>gaA	p.E173E		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	173						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AGTTCCTGGAGAAGCCCGAGT	0.692000													7	37					0	0	0.000157383	0	0
HOXA3	3200	broad.mit.edu	37	7	27148121	27148121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:27148121C>T	ENST00000396352.4	-	3	944	c.745G>A	c.(745-747)Gat>Aat	p.D249N	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.D249N	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	249					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCCTTCTGATCCTTTTTGTAC	0.602000													22	100					0	0	0.00278032	0	0
ATP7B	540	broad.mit.edu	37	13	52520510	52520510	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:52520510G>A	ENST00000242839.4	-	13	3126	c.2970C>T	c.(2968-2970)gcC>gcT	p.A990A	ATP7B_ENST00000448424.2_Silent_p.A912A|ATP7B_ENST00000344297.5_Silent_p.A783A|ATP7B_ENST00000417240.2_Silent_p.A262A|ATP7B_ENST00000418097.2_Intron|ATP7B_ENST00000400366.3_Silent_p.A879A|ATP7B_ENST00000400370.3_Silent_p.A560A|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	990					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CCGTGGGCGTGGCCAGCCCCA	0.637000									Wilson disease				23	0					0	0	0.00278032	0	0
RUFY4	285180	broad.mit.edu	37	2	218953976	218953976	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:218953976G>A	ENST00000374155.3	+	11	1974	c.1562_splice	c.e11-1	p.E522_splice	RUFY4_ENST00000344321.7_Splice_Site_p.E502_splice|RUFY4_ENST00000441828.2_3'UTR			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	502							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCCCATCAGAGAGAAGGACCG	0.537000													6	21					0	0	0.00198382	0	0
XDH	7498	broad.mit.edu	37	2	31573079	31573079	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:31573079C>T	ENST00000379416.3	-	25	2690	c.2642G>A	c.(2641-2643)cGa>cAa	p.R881Q		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	881					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.R881Q(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GAATAAAGCTCGTTCCATAAT	0.498000													23	70					0	0	0.00278032	0	0
KCNT2	343450	broad.mit.edu	37	1	196448350	196448350	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:196448350T>C	ENST00000367433.5	-	5	444	c.343A>G	c.(343-345)Agt>Ggt	p.S115G	KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.S115G|KCNT2_ENST00000294725.8_Missense_Mutation_p.S115G			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	115						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCAAACAGACTTATCAATGCC	0.279000													9	46					0	0	0.000978159	0	0
RBP3	5949	broad.mit.edu	37	10	48389662	48389662	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:48389662C>T	ENST00000224600.4	-	1	1329	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	406	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.E406K(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGTGAGTCTTCGGCTGCAGCG	0.652000													11	59					0	0	0.00136819	0	0
CLTB	1212	broad.mit.edu	37	5	175824609	175824609	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:175824609G>A	ENST00000310418.4	-	4	668	c.464_splice	c.e4+1	p.R155_splice	CLTB_ENST00000345807.2_Splice_Site_p.R155_splice	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	155	Involved in binding clathrin heavy chain.				intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		CCCTCTCACCGGTTGTTGATC	0.602000													22	53					0	0	0.00229938	0	0
SYNE1	23345	broad.mit.edu	37	6	152553250	152553250	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:152553250C>T	ENST00000367255.5	-	113	21464		c.e113+1		SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						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)		ATTTTAATTACCTTATATTTC	0.249000										HNSCC(10;0.0054)			8	25					0	0	0.000673444	0	0
TRPV6	55503	broad.mit.edu	37	7	142570143	142570143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:142570143C>T	ENST00000359396.3	-	14	2122	c.1877G>A	c.(1876-1878)gGa>gAa	p.G626E		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	626					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)					CCAGCGGTCTCCCAGGCCATA	0.647000													14	15					0	0	0.00244969	0	0
GRIA1	2890	broad.mit.edu	37	5	153029980	153029980	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:153029980G>A	ENST00000285900.5	+	4	894	c.551G>A	c.(550-552)gGa>gAa	p.G184E	GRIA1_ENST00000521843.2_Missense_Mutation_p.G115E|GRIA1_ENST00000518783.1_Missense_Mutation_p.G194E|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518142.1_Missense_Mutation_p.G104E|GRIA1_ENST00000448073.4_Missense_Mutation_p.G194E|GRIA1_ENST00000340592.5_Missense_Mutation_p.G184E	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	184					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACAGAGGAGGGATACCGGATG	0.512000													23	36					0	0	0.000586117	0	0
DFNA5	1687	broad.mit.edu	37	7	24749959	24749959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:24749959C>T	ENST00000545231.1	-	8	1404	c.254G>A	c.(253-255)aGa>aAa	p.R85K	DFNA5_ENST00000409775.3_Missense_Mutation_p.R249K|DFNA5_ENST00000342947.3_Missense_Mutation_p.R249K|DFNA5_ENST00000409970.1_Missense_Mutation_p.R85K|DFNA5_ENST00000419307.1_Missense_Mutation_p.R85K|DFNA5_ENST00000559637.1_5'UTR			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	249					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						AGAGTCAATTCTCTTCTTGTT	0.488000													31	113					0	0	0.00058488	0	0
ARNTL	406	broad.mit.edu	37	11	13387074	13387074	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:13387074G>A	ENST00000389708.3	+	10	842	c.487G>A	c.(487-489)Gga>Aga	p.G163R	ARNTL_ENST00000396441.3_Missense_Mutation_p.G163R|ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000403290.1_Missense_Mutation_p.G163R|ARNTL_ENST00000361003.4_Missense_Mutation_p.G163R|ARNTL_ENST00000403510.3_Missense_Mutation_p.G120R|ARNTL_ENST00000401424.1_Missense_Mutation_p.G120R|ARNTL_ENST00000389707.4_Missense_Mutation_p.G163R|ARNTL_ENST00000403482.3_Missense_Mutation_p.G161R			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	163	PAS 1.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		GTTTGTCGTAGGATGTGACCG	0.413000													20	23					0	0	0.000720815	0	0
SYNJ2	8871	broad.mit.edu	37	6	158517304	158517304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:158517304C>T	ENST00000355585.4	+	27	4474	c.4399C>T	c.(4399-4401)Cat>Tat	p.H1467Y	SYNJ2_ENST00000367122.2_Missense_Mutation_p.H1422Y|SYNJ2_ENST00000367112.1_Missense_Mutation_p.H552Y	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1467							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GCCACCAGATCATGAACACAA	0.527000													17	18					0	0	0.000958276	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554584	20554584	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:20554584C>T	ENST00000329697.6	-	11	1450	c.1281_splice	c.e11-1	p.E428_splice	ACSM2B_ENST00000565322.1_Splice_Site_p.E349_splice|ACSM2B_ENST00000567001.1_Splice_Site_p.E428_splice|ACSM2B_ENST00000565232.1_Splice_Site_p.E428_splice	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	428					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCGGGATTTTCCTGGTGACCA	0.483000													27	72					0	0	0.00106085	0	0
COL26A1	136227	broad.mit.edu	37	7	101200881	101200881	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:101200881C>T	ENST00000313669.7	+	0	1586				COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		GCCGCTGTTTCCTAAAGATGC	0.622000													6	1					0	0	0.00116845	0	0
ACTC1	70	broad.mit.edu	37	15	35083467	35083467	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:35083467T>G	ENST00000290378.4	-	6	1493	c.838A>C	c.(838-840)Act>Cct	p.T280P	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	280					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CTATTGTAAGTTGTTTCATGG	0.463000													41	54					0	0	0.00148497	0	0
FBLN2	2199	broad.mit.edu	37	3	13613143	13613143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:13613143C>T	ENST00000404922.3	+	2	1407	c.1288C>T	c.(1288-1290)Ccc>Tcc	p.P430S	FBLN2_ENST00000535798.1_Missense_Mutation_p.P456S|FBLN2_ENST00000295760.7_Missense_Mutation_p.P430S|FBLN2_ENST00000492059.1_Missense_Mutation_p.P430S	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	430	N.|Subdomain NB (Cys-free).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCATTCTATCCCCAGAAGTAG	0.612000													5	18					0	0	0.000602214	0	0
EYA2	2139	broad.mit.edu	37	20	45618738	45618738	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:45618738G>A	ENST00000327619.5	+	2	463	c.89G>A	c.(88-90)tGg>tAg	p.W30*	EYA2_ENST00000357410.3_Nonsense_Mutation_p.W30*|EYA2_ENST00000317304.6_Nonsense_Mutation_p.W30*	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	30					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GCTGCTGTGTGGACTCTGAGT	0.493000													16	39					0	0	0.000958276	0	0
ATP6V1A	523	broad.mit.edu	37	3	113528256	113528256	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:113528256C>T	ENST00000273398.3	+	15	1944	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F	ATP6V1A_ENST00000461496.1_3'UTR|ATP6V1A_ENST00000538620.1_Silent_p.F579F	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	612					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAATGCATTCCGTAGCCTTG	0.388000													13	29					0	0	0.00244969	0	0
PIAS3	10401	broad.mit.edu	37	1	145580376	145580376	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:145580376C>T	ENST00000369299.3	+	6	949	c.831C>T	c.(829-831)aaC>aaT	p.N277N	PIAS3_ENST00000369298.1_Intron|PIAS3_ENST00000393045.2_Intron			Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	0	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGAAGGGGAACCATCCAGTGT	0.527000													17	82					0	0	0.00121646	0	0
MPP7	143098	broad.mit.edu	37	10	28378745	28378745	+	Silent	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:28378745A>G	ENST00000337532.5	-	13	1254	c.978T>C	c.(976-978)ctT>ctC	p.L326L	MPP7_ENST00000375719.3_Silent_p.L326L|MPP7_ENST00000445954.2_Silent_p.L201L|MPP7_ENST00000540098.1_Silent_p.L326L|MPP7_ENST00000375732.1_Silent_p.L326L	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	326					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CTTTTCTACTAAGACGAAAAC	0.323000													13	15					0	0	0.00136819	0	0
ATP2B3	492	broad.mit.edu	37	X	152835065	152835065	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:152835065A>T	ENST00000370186.1	+	20	3631	c.3305A>T	c.(3304-3306)gAg>gTg	p.E1102V	ATP2B3_ENST00000349466.2_Intron|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E1116V|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E1102V|ATP2B3_ENST00000263519.4_Intron|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E1102V			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1116	Calmodulin-binding subdomain A (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCACAGATGGAGGTAGTGAGT	0.557000													50	61					0	0	0.000781405	0	0
KCNA5	3741	broad.mit.edu	37	12	5155047	5155047	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:5155047G>A	ENST00000252321.3	+	1	1963	c.1734G>A	c.(1732-1734)agG>agA	p.R578R		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	578			R -> K (in dbSNP:rs12720445).			Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GTGCCCGAAGGGGCAGCTGCC	0.637000													13	21					0	0	0.00185496	0	0
ITGB8	3696	broad.mit.edu	37	7	20420314	20420314	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:20420314C>T	ENST00000222573.3	+	5	1345	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S	ITGB8_ENST00000537992.1_Missense_Mutation_p.P86S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	221	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CTGCATGCCTCCCCATGGATA	0.383000													21	94					0	0	0.00229938	0	0
CRISP3	10321	broad.mit.edu	37	6	49704164	49704164	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:49704164C>T	ENST00000433368.2	-	3	267	c.198G>A	c.(196-198)gtG>gtA	p.V66V	CRISP3_ENST00000263045.4_Silent_p.V56V|CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000393666.1_Silent_p.V43V|CRISP3_ENST00000371159.4_Silent_p.V74V	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	43					innate immune response	proteinaceous extracellular matrix|specific granule		p.V43V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TGTGCTTATTCACAATCTCCC	0.413000													31	39					0	0	0.00058488	0	0
DMBT1	1755	broad.mit.edu	37	10	124380882	124380882	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:124380882G>A	ENST00000338354.3	+	41	5313	c.5207G>A	c.(5206-5208)gGt>gAt	p.G1736D	DMBT1_ENST00000368909.3_Missense_Mutation_p.G1736D|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1726D|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1108D|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1108D|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1726D			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1736	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GAAGACGCTGGTGTCATCTGC	0.562000													55	22					0	0	0.000781405	0	0
PSMD1	5707	broad.mit.edu	37	2	231931703	231931703	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:231931703T>A	ENST00000308696.6	+	5	550	c.388T>A	c.(388-390)Ttg>Atg	p.L130M	PSMD1_ENST00000373635.4_Missense_Mutation_p.L130M|PSMD1_ENST00000409643.1_Missense_Mutation_p.L130M	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	130					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TGACCAGAGATTGGAAGGCAT	0.393000													11	22					0	0	0.00136819	0	0
BRINP2	57795	broad.mit.edu	37	1	177249834	177249834	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:177249834G>A	ENST00000361539.4	+	8	1834	c.1522G>A	c.(1522-1524)Gac>Aac	p.D508N	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		508						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GCTGGAGACAGACTTGCAGGA	0.597000													26	26					0	0	0.001512	0	0
COL17A1	1308	broad.mit.edu	37	10	105824202	105824202	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:105824202C>T	ENST00000353479.5	-	10	1050	c.760G>A	c.(760-762)Gga>Aga	p.G254R	COL17A1_ENST00000369733.3_Missense_Mutation_p.G254R|COL17A1_ENST00000393211.3_Missense_Mutation_p.G254R	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	254	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GTACCTGATCCCGCAGAGTAG	0.597000													16	10					0	0	0.00074312	0	0
IL17C	27189	broad.mit.edu	37	16	88705457	88705457	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:88705457G>A	ENST00000244241.4	+	2	124	c.75G>A	c.(73-75)agG>agA	p.R25R		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	25			R -> G (in dbSNP:rs11465492).		cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CCTCCCTCAGGGGGCACCCCC	0.672000													38	55					0	0	0.0025221	0	0
MAP9	79884	broad.mit.edu	37	4	156268978	156268978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:156268978G>A	ENST00000311277.4	-	14	2164	c.1901C>T	c.(1900-1902)cCg>cTg	p.P634L	AC097467.2_ENST00000595229.1_RNA|AC097467.2_ENST00000593387.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.P610L|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000598252.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	634					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		AGGGCTCCACGGAGGAAGTGC	0.358000													4	6					0	0	0.000602214	0	0
SCN1A	6323	broad.mit.edu	37	2	166848472	166848472	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:166848472G>A	ENST00000423058.2	-	26	5330	c.5313C>T	c.(5311-5313)atC>atT	p.I1771I	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.I1760I|SCN1A_ENST00000303395.4_Silent_p.I1771I|SCN1A_ENST00000409050.1_Silent_p.I1743I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1771						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGAAGGATATGATGATGTAAC	0.458000													14	48					0	0	0.00244969	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886032	88886032	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:88886032C>T	ENST00000319675.3	-	1	264	c.168G>A	c.(166-168)agG>agA	p.R56R		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	56								p.R56S(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGACCTTTTTCCTCTGCATGC	0.502000													29	49					0	0	0.001512	0	0
FANCG	2189	broad.mit.edu	37	9	35078706	35078706	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:35078706G>A	ENST00000378643.3	-	3	694	c.203C>T	c.(202-204)cCc>cTc	p.P68L		NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	68					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAGCTCCAAGGGAAGAACAGG	0.532000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks					8	60					0	0	0.000442599	0	0
ABCA13	154664	broad.mit.edu	37	7	48313192	48313192	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:48313192C>T	ENST00000435803.1	+	17	3953	c.3929C>T	c.(3928-3930)tCa>tTa	p.S1310L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1310					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GACTTTCTTTCAAATAATCTC	0.294000													4	20					0	0	0.00024832	0	0
FLG	2312	broad.mit.edu	37	1	152276668	152276668	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:152276668C>T	ENST00000368799.1	-	3	10729	c.10694G>A	c.(10693-10695)gGa>gAa	p.G3565E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3565	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGCAGATCCACGATGGTT	0.567000									Ichthyosis				56	320					0	0	0.000781405	0	0
OR2A25	392138	broad.mit.edu	37	7	143771558	143771558	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:143771558G>A	ENST00000408898.2	+	1	284	c.246G>A	c.(244-246)gtG>gtA	p.V82V		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					AGATGCTGGTGAACCTCCTGC	0.557000													12	43					0	0	0.00185496	0	0
ZNF582	147948	broad.mit.edu	37	19	56896082	56896082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:56896082G>A	ENST00000301310.4	-	5	862	c.704C>T	c.(703-705)gCc>gTc	p.A235V	ZNF582_ENST00000586929.1_Missense_Mutation_p.A235V	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		AGAATTGAAGGCCTTTCCACA	0.373000													18	49					0	0	0.000958276	0	0
SHB	6461	broad.mit.edu	37	9	37919910	37919910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:37919910C>T	ENST00000377707.3	-	6	2003	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	RP11-613M10.9_ENST00000540557.1_Intron	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	480	SH2.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TGGATGACTTCCGGGACACTG	0.532000													45	29					0	0	0.00285205	0	0
CYP4F3	4051	broad.mit.edu	37	19	15769554	15769554	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:15769554C>T	ENST00000221307.7	+	12	1380	c.1332C>T	c.(1330-1332)cgC>cgT	p.R444R	CYP4F3_ENST00000585846.1_Silent_p.R444R|CYP4F3_ENST00000586182.1_Silent_p.R444R|CYP4F3_ENST00000591058.1_Silent_p.R444R	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	444					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						ACCCCTTTCGCTTTGACCCAA	0.592000													36	93					0	0	0.00111076	0	0
GRIN2B	2904	broad.mit.edu	37	12	13828756	13828756	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:13828756A>T	ENST00000279593.3	-	4	1257	c.1048T>A	c.(1048-1050)Tcc>Acc	p.S350T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	350					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCACTGAAGGACAAATTCCTC	0.398000													16	24					0	0	0.00074312	0	0
HECTD4	283450	broad.mit.edu	37	12	112622558	112622558	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:112622558G>A	ENST00000550722.1	-	61	10169	c.9774C>T	c.(9772-9774)atC>atT	p.I3258I	HECTD4_ENST00000430131.2_Silent_p.I2982I|HECTD4_ENST00000377560.5_Silent_p.I3232I	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GGTGGGTGGGGATCCCGGAGA	0.687000													33	76					0	0	0.0024448	0	0
DFNA5	1687	broad.mit.edu	37	7	24745866	24745866	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:24745866G>A	ENST00000545231.1	-	10	1778	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S	DFNA5_ENST00000409775.3_Missense_Mutation_p.P374S|DFNA5_ENST00000342947.3_Missense_Mutation_p.P374S|DFNA5_ENST00000409970.1_Missense_Mutation_p.P210S|DFNA5_ENST00000419307.1_Missense_Mutation_p.P210S			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	374					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GCATCCTCGGGGCCCGGACAC	0.597000													29	48					0	0	0.0024448	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369960	20369960	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:20369960G>A	ENST00000593655.1	-	0	199																											TTTCTGGAGGGTCTACTATGT	0.398000													13	51					0	0	0.00185496	0	0
SCN11A	11280	broad.mit.edu	37	3	38966958	38966958	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:38966958G>A	ENST00000302328.3	-	5	858	c.660C>T	c.(658-660)ccC>ccT	p.P220P	SCN11A_ENST00000444237.2_Silent_p.P220P|SCN11A_ENST00000450244.1_Silent_p.P220P|SCN11A_ENST00000456224.3_Silent_p.P220P	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	220					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGGTACGCAGGGGCAATAGTT	0.463000													10	38					0	0	0.000673444	0	0
CPXM2	119587	broad.mit.edu	37	10	125650903	125650903	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:125650903C>T	ENST00000241305.3	-	1	427	c.273G>A	c.(271-273)agG>agA	p.R91R	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	91	Pro-rich.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCGACTTCTCCCTCTTGGGAG	0.726000													5	7					0	0	0.00116845	0	0
LONRF2	164832	broad.mit.edu	37	2	100915380	100915380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:100915380C>T	ENST00000393437.3	-	7	2033	c.1394G>A	c.(1393-1395)gGa>gAa	p.G465E	LONRF2_ENST00000409647.1_Missense_Mutation_p.G222E	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	465					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						AAATGTGTGTCCACAGGGCGT	0.443000													119	156					0	0	0.000781405	0	0
ACACB	32	broad.mit.edu	37	12	109639470	109639470	+	Silent	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:109639470C>A	ENST00000338432.7	+	19	2996	c.2877C>A	c.(2875-2877)gcC>gcA	p.A959A	ACACB_ENST00000377854.5_Silent_p.A959A|ACACB_ENST00000377848.3_Silent_p.A959A			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	959	Biotinyl-binding.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GCGTGGTGGCCAGGCTGGAGC	0.592000													32	26					1.62565e-12	5.99664e-12	0.0024448	1	0
DEFA4	1669	broad.mit.edu	37	8	6793604	6793604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:6793604G>A	ENST00000297435.2	-	3	356	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	78					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TTCCCAACACGAAGTTCTGTT	0.507000													37	49					0	0	0.00128727	0	0
FCRL2	79368	broad.mit.edu	37	1	157738411	157738411	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:157738411A>C	ENST00000361516.3	-	5	724	c.676T>G	c.(676-678)Tgc>Ggc	p.C226G	FCRL2_ENST00000392274.3_Missense_Mutation_p.C226G|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	226	Ig-like C2-type 3.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCCACTGAGCAGAGCAGGATC	0.522000													38	179					0	0	0.00170553	0	0
OR5D16	390144	broad.mit.edu	37	11	55606658	55606658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:55606658C>T	ENST00000378396.1	+	1	431	c.431C>T	c.(430-432)gCc>gTc	p.A144V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				AAACTCTGTGCCATGCTGGTG	0.453000													15	13					0	0	0.000422831	0	0
CCDC63	160762	broad.mit.edu	37	12	111342572	111342572	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:111342572C>T	ENST00000308208.5	+	11	1765	c.1523C>T	c.(1522-1524)cCc>cTc	p.P508L	CCDC63_ENST00000545036.1_Missense_Mutation_p.P468L|CCDC63_ENST00000552694.1_Missense_Mutation_p.P429L	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	508										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GGGGCTGACCCCTTCAGCGAC	0.592000													10	40					0	0	0.00136819	0	0
SYNPO	11346	broad.mit.edu	37	5	150028561	150028561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:150028561C>T	ENST00000394243.1	+	3	1830	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	SYNPO_ENST00000522122.1_Missense_Mutation_p.P486S|SYNPO_ENST00000307662.4_Missense_Mutation_p.P242S|SYNPO_ENST00000519664.1_Missense_Mutation_p.P242S	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	486					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGGCCAGGCCTTTTGGGAT	0.647000													23	40					0	0	0.00188189	0	0
GJB5	2709	broad.mit.edu	37	1	35223641	35223641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:35223641C>T	ENST00000338513.1	+	2	883	c.710C>T	c.(709-711)tCc>tTc	p.S237F		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	237					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				ACCACCTCTTCCTGCAAACAA	0.557000													35	69					0	0	0.000953801	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257788	41257788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:41257788C>T	ENST00000307221.4	-	1	342	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_3'UTR	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	71					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TTTAATCCTTCTGTGCCATAT	0.348000													59	372					0	0	0.000781405	0	0
SCUBE1	80274	broad.mit.edu	37	22	43619186	43619186	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:43619186G>A	ENST00000360835.3	-	11	1370	c.1244C>T	c.(1243-1245)cCc>cTc	p.P415L		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	415					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CTGGGCCCGGGGGGAGGTCTT	0.647000													32	223					0	0	0.000692331	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50471821	50471821	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:50471821T>A	ENST00000435965.1	-	3	501	c.328A>T	c.(328-330)Aat>Tat	p.N110Y	CACNA2D2_ENST00000479441.1_Missense_Mutation_p.N110Y|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.N110Y|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.N110Y|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.N110Y|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.N110Y|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.N41Y|CACNA2D2_ENST00000487413.1_5'UTR|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.N110Y			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	110					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGAGGCTCATTCTCCTGTACC	0.572000													61	48					0	0	0.000781405	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144930624	144930624	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:144930624C>A	ENST00000529945.1	-	1	1524	c.1085G>T	c.(1084-1086)tGg>tTg	p.W362L	PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.W362L|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000479408.2_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	12					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)		GAGATCATCCCACAGCTCCTG	0.483000			T	PDGFRB	MPD								8	231					0.000442599	0.00162127	0.000442599	1	0
CHST5	23563	broad.mit.edu	37	16	75563490	75563490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:75563490G>A	ENST00000336257.3	-	3	2187	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	CHST5_ENST00000541075.1_Missense_Mutation_p.R271C|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	265					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CACACCTCGCGAATCAGGCGC	0.716000													19	46					0	0	0.00074312	0	0
CXorf61	203413	broad.mit.edu	37	X	115593146	115593146	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:115593146G>A	ENST00000371894.4	-	2	250	c.104C>T	c.(103-105)tCa>tTa	p.S35L		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	35						integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						AAGAGCAGTTGAATTTGATGA	0.373000													18	25					0	0	0.00278032	0	0
AXDND1	126859	broad.mit.edu	37	1	179414189	179414189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:179414189G>A	ENST00000367618.3	+	16	2035	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	AXDND1_ENST00000457238.2_Missense_Mutation_p.E550K|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	550										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ACATTTACAGGAAAACTGGGC	0.378000													61	48					0	0	0.000781405	0	0
LY9	4063	broad.mit.edu	37	1	160793326	160793326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:160793326C>T	ENST00000263285.5	+	8	1600	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S	LY9_ENST00000368040.1_Missense_Mutation_p.P162S|LY9_ENST00000341032.4_Splice_Site|LY9_ENST00000368041.2_Missense_Mutation_p.P394S|LY9_ENST00000368035.1_Missense_Mutation_p.P162S	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	524					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCCCCTCAGGCCTGCCAGGCA	0.562000													17	47					0	0	0.000958276	0	0
VN1R4	317703	broad.mit.edu	37	19	53770738	53770738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:53770738C>T	ENST00000311170.4	-	1	234	c.181G>A	c.(181-183)Gga>Aga	p.G61R		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	61					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		TGGGGGACTCCTTTACAGCGG	0.463000										HNSCC(26;0.072)			26	21					0	0	0.00058488	0	0
ZEB2	9839	broad.mit.edu	37	2	145158812	145158812	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:145158812G>A	ENST00000558170.2	-	7	2054	c.870C>T	c.(868-870)gcC>gcT	p.A290A	ZEB2_ENST00000409487.3_Silent_p.A290A|ZEB2_ENST00000539609.3_Silent_p.A266A|ZEB2_ENST00000303660.4_Silent_p.A290A	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	290						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TATATTTGAAGGCCTTGCCAC	0.443000													75	86					0	0	0.000781405	0	0
FHOD1	29109	broad.mit.edu	37	16	67263792	67263792	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:67263792C>T	ENST00000258201.4	-	21	3563	c.3316G>A	c.(3316-3318)Gag>Aag	p.E1106K	FHOD1_ENST00000567687.1_Missense_Mutation_p.E685K	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1106					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TCCATGATCTCATCTGATGTA	0.572000													26	52					0	0	0.000720815	0	0
C9orf84	158401	broad.mit.edu	37	9	114464453	114464453	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:114464453C>T	ENST00000394779.3	-	19	2956	c.2712G>A	c.(2710-2712)ctG>ctA	p.L904L	C9orf84_ENST00000374287.3_Silent_p.L943L|C9orf84_ENST00000318737.4_Silent_p.L943L|C9orf84_ENST00000394777.4_Silent_p.L869L	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	943										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATAATGCCATCAGCCTCATAA	0.284000													17	35					0	0	0.000566183	0	0
NLRP3	114548	broad.mit.edu	37	1	247608119	247608119	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:247608119C>T	ENST00000366497.2	+	8	3616	c.2836C>T	c.(2836-2838)Ctg>Ttg	p.L946L	NLRP3_ENST00000391828.3_Silent_p.L1003L|NLRP3_ENST00000366496.2_Silent_p.L946L|NLRP3_ENST00000348069.2_Silent_p.L889L|NLRP3_ENST00000391827.2_Silent_p.L946L|NLRP3_ENST00000336119.3_Silent_p.L1003L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	1003					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCTGCAGAACCTGGGGTGAGT	0.552000													4	31					0	0	0.00024832	0	0
FAM3D	131177	broad.mit.edu	37	3	58629399	58629399	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:58629399G>A	ENST00000358781.2	-	6	622	c.312C>T	c.(310-312)gcC>gcT	p.A104A		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	104					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CATTCACCAGGGCGATGTTTA	0.498000													20	95					0	0	0.000586117	0	0
FAM69A	388650	broad.mit.edu	37	1	93316481	93316481	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:93316481C>T	ENST00000370310.4	-	3	291	c.221G>A	c.(220-222)gGg>gAg	p.G74E		NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN	family with sequence similarity 69, member A	74						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		ACATGCAGGCCCATCAATAAC	0.338000													5	27					0	0	0.00116845	0	0
DNAH3	55567	broad.mit.edu	37	16	20946785	20946785	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:20946785G>A	ENST00000261383.3	-	61	11881	c.11882C>T	c.(11881-11883)cCt>cTt	p.P3961L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3961					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAATACCACAGGGGGCCCCTT	0.413000													12	18					0	0	0.00136819	0	0
BUD13	84811	broad.mit.edu	37	11	116628539	116628539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:116628539C>T	ENST00000260210.4	-	8	1650	c.1627G>A	c.(1627-1629)Gac>Aac	p.D543N	BUD13_ENST00000375445.3_Missense_Mutation_p.D409N	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	543										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GCCATAGGGTCCCCCTCTCTT	0.453000													191	251					0	0	0.000781405	0	0
GAS2L2	246176	broad.mit.edu	37	17	34074223	34074223	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:34074223C>T	ENST00000254466.6	-	5	924	c.897G>A	c.(895-897)caG>caA	p.Q299Q	GAS2L2_ENST00000587565.1_Silent_p.Q283Q	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	299					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGGTCCATCCTGTACCCTTA	0.587000													72	112					0	0	0.000781405	0	0
SLC28A2	9153	broad.mit.edu	37	15	45545460	45545460	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:45545460A>T	ENST00000347644.3	+	2	112	c.47A>T	c.(46-48)gAg>gTg	p.E16V	CTD-2651B20.3_ENST00000559003.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	16					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TCCACAGTGGAGACTGGCACA	0.507000													8	14					0	0	0.000442599	0	0
CCR9	10803	broad.mit.edu	37	3	45943249	45943249	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:45943249A>T	ENST00000357632.2	+	3	1149	c.969A>T	c.(967-969)agA>agT	p.R323S	CCR9_ENST00000355983.2_Missense_Mutation_p.R311S|LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000395963.2_Missense_Mutation_p.R311S	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	323					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TGGGTGAGAGATTCCGCCGGG	0.517000													14	57					0	0	0.00185496	0	0
SUN3	256979	broad.mit.edu	37	7	48046893	48046893	+	Missense_Mutation	SNP	G	G	A	rs139673000		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:48046893G>A	ENST00000453192.2	-	6	568	c.325C>T	c.(325-327)Cgt>Tgt	p.R109C	SUN3_ENST00000395572.2_Missense_Mutation_p.R121C|SUN3_ENST00000297325.4_Missense_Mutation_p.R121C|SUN3_ENST00000412142.1_Missense_Mutation_p.R21C			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	121						integral to membrane		p.R121C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGAATTTGACGAAAATTGTTT	0.403000													10	74					0	0	0.000442599	0	0
SLFN11	91607	broad.mit.edu	37	17	33680930	33680930	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:33680930C>T	ENST00000394566.1	-	6	1619	c.1347G>A	c.(1345-1347)ctG>ctA	p.L449L	SLFN11_ENST00000308377.4_Silent_p.L449L	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	449						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTGCAAGTTCAGGTCCACAG	0.473000													27	42					0	0	0.00209593	0	0
MYOZ1	58529	broad.mit.edu	37	10	75397560	75397560	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:75397560A>G	ENST00000359322.4	-	3	558	c.194T>C	c.(193-195)aTg>aCg	p.M65T		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	65					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CTCCACCCTCATCTGCCGCAG	0.483000													55	64					0	0	0.000781405	0	0
ANK3	288	broad.mit.edu	37	10	61831209	61831209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:61831209G>A	ENST00000280772.1	-	37	9621	c.9430C>T	c.(9430-9432)Ccc>Tcc	p.P3144S	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3144					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTACCTTGGGGAGAAGGAGGT	0.433000													32	28					0	0	0.00209593	0	0
CACNA1D	776	broad.mit.edu	37	3	53707790	53707790	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:53707790G>A	ENST00000288139.3	+	8	1285	c.1167G>A	c.(1165-1167)ctG>ctA	p.L389L	CACNA1D_ENST00000498251.1_Intron|CACNA1D_ENST00000350061.5_Intron|CACNA1D_ENST00000422281.2_Intron	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	389					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTGTTAGTCTGATCATCCTTG	0.443000													22	90					0	0	0.000878237	0	0
AGAP11	119385	broad.mit.edu	37	10	88769434	88769434	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:88769434C>T	ENST00000444431.1	+	0	4034				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CACATGGCTCCCGTGAGGAGG	0.672000													38	64					0	0	0.00195071	0	0
SHANK1	50944	broad.mit.edu	37	19	51219543	51219543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:51219543G>A	ENST00000293441.1	-	2	466	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S	SHANK1_ENST00000359082.3_Missense_Mutation_p.P150S|SHANK1_ENST00000391814.1_Missense_Mutation_p.P150S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	150					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCCAGGTAGGGGACCCCCTTC	0.582000													20	74					0	0	0.000958276	0	0
SCN9A	6335	broad.mit.edu	37	2	167129170	167129170	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:167129170C>T	ENST00000375387.4	-	17	3433	c.3093G>A	c.(3091-3093)ctG>ctA	p.L1031L	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.L1019L|SCN9A_ENST00000303354.6_Silent_p.L1031L|SCN9A_ENST00000409435.1_Silent_p.L1030L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1030						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCTTAGTATTCAGATCTTCTG	0.328000													7	20					0	0	0.000157383	0	0
MFI2	4241	broad.mit.edu	37	3	196737597	196737597	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:196737597C>T	ENST00000296350.5	-	10	1415	c.1302G>A	c.(1300-1302)ctG>ctA	p.L434L		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	434	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CTGCGGGAACCAGGCCGTACG	0.612000													13	44					0	0	0.000422831	0	0
KSR1	8844	broad.mit.edu	37	17	25928939	25928939	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:25928939T>C	ENST00000398988.3	+	13	1565	c.1120T>C	c.(1120-1122)Tgg>Cgg	p.W374R	KSR1_ENST00000509603.2_Intron|KSR1_ENST00000268763.6_Missense_Mutation_p.W374R|KSR1_ENST00000581975.1_Intron|KSR1_ENST00000319524.6_Missense_Mutation_p.W511R	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	509					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TGGCCATTGCTGGAAATGCCT	0.443000											OREG0024261	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	15					0	0	0.000673444	0	0
SELENBP1	8991	broad.mit.edu	37	1	151337081	151337081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:151337081G>A	ENST00000426705.2	-	12	1627	c.1483C>T	c.(1483-1485)Cca>Tca	p.P495S	SELENBP1_ENST00000368868.5_Missense_Mutation_p.P453S|SELENBP1_ENST00000447402.3_Missense_Mutation_p.P391S|SELENBP1_ENST00000435071.1_Missense_Mutation_p.P389S	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	453					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCAAGGGCTGGGCCAAGGGGC	0.567000													68	56					0	0	0.000781405	0	0
IGHA1	3493	broad.mit.edu	37	14	106173490	106173490	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:106173490G>A	ENST00000390547.2	-	0	1076																											TCAGGGGTGGGGACAGGCGGG	0.617000													18	31					0	0	0.001512	0	0
SERPINA1	5265	broad.mit.edu	37	14	94844884	94844884	+	Missense_Mutation	SNP	C	C	T	rs121912712		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:94844884C>T	ENST00000448921.1	-	7	1731	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	SERPINA1_ENST00000437397.1_Missense_Mutation_p.E387K|SERPINA1_ENST00000393088.4_Missense_Mutation_p.E387K|SERPINA1_ENST00000440909.1_Missense_Mutation_p.E387K|SERPINA1_ENST00000404814.4_Missense_Mutation_p.E387K|SERPINA1_ENST00000393087.4_Missense_Mutation_p.E387K|SERPINA1_ENST00000355814.4_Missense_Mutation_p.E387K|SERPINA1_ENST00000449399.3_Missense_Mutation_p.E387K	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	387	RCL.		E -> K (in Christchurch).		acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	AACTTGACCTCGGGGGGGATA	0.488000													20	63					0	0	0.00121646	0	0
CACNA1G	8913	broad.mit.edu	37	17	48653522	48653522	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:48653522G>A	ENST00000352832.5	+	8	2131	c.1759G>A	c.(1759-1761)Ggg>Agg	p.G587R	CACNA1G_ENST00000515411.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000359106.5_Missense_Mutation_p.G587R|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G587R|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G587R|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G587R|CACNA1G_ENST00000416767.4_Missense_Mutation_p.G587R|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G587R|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G587R|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G587R|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G587R|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G587R	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	587					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGTGGGCAGCGGGAAGGTGTA	0.657000													5	7					0	0	0.000602214	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147336230	147336230	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:147336230T>G	ENST00000361727.3	+	13	2446	c.1930T>G	c.(1930-1932)Ttg>Gtg	p.L644V		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	644	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTCTCATGACTTGCAGATGCA	0.478000										HNSCC(39;0.1)			29	111					0	0	0.00058488	0	0
MYH10	4628	broad.mit.edu	37	17	8449957	8449957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:8449957G>A	ENST00000360416.3	-	12	1321	c.1183C>T	c.(1183-1185)Ctt>Ttt	p.L395F	MYH10_ENST00000269243.4_Missense_Mutation_p.L385F|MYH10_ENST00000396239.1_Missense_Mutation_p.L385F|MYH10_ENST00000379980.4_Missense_Mutation_p.L401F	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	385	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCATCCCAAGAAGATGGCAG	0.438000													20	22					0	0	0.00188189	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49368804	49368804	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:49368804C>T	ENST00000263265.6	-	3	703	c.148G>A	c.(148-150)Gat>Aat	p.D50N	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.D50N	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	50						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		AGGTTGGGATCCCTCCTGAGC	0.577000													21	30					0	0	0.000720815	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509277	106509277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:106509277C>T	ENST00000359195.3	+	2	1581	c.1271C>T	c.(1270-1272)cCc>cTc	p.P424L	PIK3CG_ENST00000440650.2_Missense_Mutation_p.P424L|PIK3CG_ENST00000496166.1_Missense_Mutation_p.P424L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	424					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AAAGACTTGCCCAAAGGGGCT	0.522000													48	3					0	0	0.000781405	0	0
SPEF2	79925	broad.mit.edu	37	5	35740050	35740050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:35740050G>A	ENST00000440995.2	+	22	3078	c.3078G>A	c.(3076-3078)tgG>tgA	p.W1026*	SPEF2_ENST00000356031.3_Nonsense_Mutation_p.W1031*|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1031					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TACCTTACTGGGAACTAATAG	0.338000													16	31					0	0	0.000422831	0	0
ABCC4	10257	broad.mit.edu	37	13	95673930	95673930	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr13:95673930A>G	ENST00000376887.4	-	31	3991	c.3877T>C	c.(3877-3879)Ttc>Ctc	p.F1293L	ABCC4_ENST00000412704.1_Missense_Mutation_p.F1246L	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1293					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTTCTTTTGAAGTATACCTAG	0.368000													39	2					0	0	0.00285205	0	0
KIAA1217	56243	broad.mit.edu	37	10	24834803	24834803	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:24834803C>T	ENST00000376454.3	+	21	5412	c.5382C>T	c.(5380-5382)tcC>tcT	p.S1794S	KIAA1217_ENST00000458595.1_Silent_p.S1200S|KIAA1217_ENST00000376462.1_Silent_p.S1115S|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376452.3_Silent_p.S1225S|KIAA1217_ENST00000376451.2_3'UTR	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1794	Ser-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGCCTACTTCCCCCTCCTTAC	0.488000													26	40					0	0	0.000586117	0	0
PRDM2	7799	broad.mit.edu	37	1	14107394	14107394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:14107394C>T	ENST00000235372.7	+	8	3960	c.3104C>T	c.(3103-3105)cCt>cTt	p.P1035L	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.P1035L|PRDM2_ENST00000343137.4_Missense_Mutation_p.P834L|PRDM2_ENST00000413440.1_Missense_Mutation_p.P834L|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1035	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TCTCCCATTCCTCCCGTGGAG	0.572000													20	65					0	0	0.00152264	0	0
CALU	813	broad.mit.edu	37	7	128407644	128407644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:128407644C>T	ENST00000542996.2	+	7	1745	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	CALU_ENST00000249364.4_Missense_Mutation_p.P260S|CALU_ENST00000449187.2_Missense_Mutation_p.P260S|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000538546.1_Missense_Mutation_p.P109S|CALU_ENST00000535011.2_Intron|CALU_ENST00000479257.1_Missense_Mutation_p.P268S	NM_001199672.1	NP_001186601.1	O43852	CALU_HUMAN	calumenin	260	EF-hand 6.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						CTGGATCCTTCCCTCAGACTA	0.502000													47	15					0	0	0.000781405	0	0
GPR158	57512	broad.mit.edu	37	10	25885576	25885576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:25885576C>T	ENST00000376351.3	+	10	2362	c.2003C>T	c.(2002-2004)tCa>tTa	p.S668L	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	668						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTTCAGTTTTCACATTCAAGC	0.373000													8	9					0	0	0.000157383	0	0
PAK6	56924	broad.mit.edu	37	15	40558353	40558353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:40558353G>A	ENST00000455577.2	+	5	1427	c.515G>A	c.(514-516)gGg>gAg	p.G172E	PAK6_ENST00000560346.1_Missense_Mutation_p.G172E|PAK6_ENST00000542403.2_Missense_Mutation_p.G172E|PAK6_ENST00000559901.1_3'UTR|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000260404.4_Missense_Mutation_p.G172E|PAK6_ENST00000453867.1_Missense_Mutation_p.G172E|PAK6_ENST00000441369.1_Missense_Mutation_p.G172E	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	172	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CTGCCCAATGGGCTGGCTGCA	0.692000													5	3					0	0	0.000602214	0	0
NPY2R	4887	broad.mit.edu	37	4	156136174	156136174	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:156136174G>A	ENST00000329476.3	+	2	1572	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	NPY2R_ENST00000506608.1_Silent_p.K361K	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	361					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				AGGCTAAAAAGAACCTGGAGG	0.483000													20	59					0	0	0.00188189	0	0
IGKV6-21	28906	broad.mit.edu	37	2	89459279	89459279	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:89459279C>T	ENST00000390256.2	-	0	361																											GCAGCATCTTCAGCTTCCAGG	0.483000													40	144					0	0	0.000781405	0	0
APOL5	80831	broad.mit.edu	37	22	36122921	36122921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:36122921C>T	ENST00000249044.2	+	3	806	c.806C>T	c.(805-807)cCt>cTt	p.P269L		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	269					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						AGACACATCCCTTTCTGGACG	0.542000													98	349					0	0	0.000781405	0	0
CAPN13	92291	broad.mit.edu	37	2	30964829	30964829	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:30964829C>T	ENST00000295055.8	-	15	1657	c.1479_splice	c.e15-1	p.G494_splice	CAPN13_ENST00000534090.2_Splice_Site_p.G494_splice	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	494					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGAAGGGCTTCCCTGGATCAA	0.502000													14	40					0	0	0.00244969	0	0
GMPS	8833	broad.mit.edu	37	3	155652728	155652728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:155652728C>T	ENST00000496455.1	+	14	2035	c.1700C>T	c.(1699-1701)cCa>cTa	p.P567L	GMPS_ENST00000295920.7_Missense_Mutation_p.P468L	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	567					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTTGGCCCACCAGTTAAAGAA	0.378000			T	MLL	AML								20	44					0	0	0.00188189	0	0
PKLR	5313	broad.mit.edu	37	1	155263375	155263375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:155263375C>T	ENST00000392414.3	-	8	1143	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	PKLR_ENST00000342741.4_Missense_Mutation_p.E375K	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	375					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	ATCATGCTCTCCAGCATCTGG	0.577000													47	19					0	0	0.000781405	0	0
GCSAM	257144	broad.mit.edu	37	3	111842472	111842472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:111842472C>T	ENST00000308910.4	-	6	551	c.367G>A	c.(367-369)Gga>Aga	p.G123R	GCSAM_ENST00000484193.1_Missense_Mutation_p.G125R|C3orf52_ENST00000467942.2_Intron	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1			germinal center-associated, signaling and motility																		GTCTCAGTTCCTCCCAAGGAC	0.483000													29	55					0	0	0.00178596	0	0
MIR381HG	378881	broad.mit.edu	37	14	101512826	101512826	+	RNA	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:101512826C>T	ENST00000553692.1	+	0	28				MIR487B_ENST00000385021.1_RNA																							CTGTCCTGTTCGTTTTGCTCA	0.507000													16	68					0	0	0.00188189	0	0
ASH1L	55870	broad.mit.edu	37	1	155429669	155429669	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:155429669T>A	ENST00000368346.3	-	4	5644	c.5005A>T	c.(5005-5007)Aaa>Taa	p.K1669*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.K1669*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1669	Ser-rich.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGGGAGGGTTTATCAGAGGTT	0.403000													16	91					0	0	0.000566183	0	0
GOLPH3L	55204	broad.mit.edu	37	1	150667295	150667295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:150667295C>T	ENST00000271732.3	-	2	64	c.20G>A	c.(19-21)cGg>cAg	p.R7Q	GOLPH3L_ENST00000540514.1_Missense_Mutation_p.R7Q|GOLPH3L_ENST00000479757.1_5'UTR	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	7						Golgi cisterna membrane		p.R7L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GCGACGGGCCCGGTGAGTTAA	0.393000													60	107					0	0	0.000781405	0	0
ASIC3	9311	broad.mit.edu	37	7	150749682	150749682	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:150749682C>T	ENST00000357922.4	+	10	2074	c.1480C>T	c.(1480-1482)Cgt>Tgt	p.R494C	ASIC3_ENST00000297512.8_Missense_Mutation_p.P520L|ASIC3_ENST00000349064.5_Silent_p.A513A	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	493					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										CTCCCTGTGCCGTCACCAAGA	0.632000													30	64					0	0	0.00127121	0	0
TCF20	6942	broad.mit.edu	37	22	42605786	42605786	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:42605786G>A	ENST00000359486.3	-	1	5662	c.5526C>T	c.(5524-5526)atC>atT	p.I1842I	TCF20_ENST00000335626.4_Silent_p.I1842I|TCF20_ENST00000404876.1_Silent_p.I143I	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1842					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTAGTTCAGGGATTTGTAACT	0.517000													44	508					0	0	0.000781405	0	0
HUWE1	10075	broad.mit.edu	37	X	53622156	53622156	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:53622156G>A	ENST00000342160.3	-	29	3828	c.3371C>T	c.(3370-3372)cCc>cTc	p.P1124L	HUWE1_ENST00000218328.8_Missense_Mutation_p.P1124L|HUWE1_ENST00000262854.6_Missense_Mutation_p.P1124L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1124				P -> L (in Ref. 1 and 5).	base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCTGAATCGGGGAGTAGGTGT	0.463000													50	3					0	0	0.000781405	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60029004	60029004	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:60029004G>A	ENST00000586569.1	+	7	746	c.708G>A	c.(706-708)agG>agA	p.R236R	TNFRSF11A_ENST00000269485.7_Intron	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	236					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TTTGCTATAGGAAAAAAGGGA	0.423000													59	269					0	0	0.000781405	0	0
OR52M1	119772	broad.mit.edu	37	11	4566771	4566771	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:4566771C>T	ENST00000360213.1	+	1	351	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGCATCTTCCTTGCCATGG	0.522000													27	23					0	0	0.00106085	0	0
KIF17	57576	broad.mit.edu	37	1	21036224	21036224	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:21036224C>T	ENST00000247986.2	-	4	888	c.578G>A	c.(577-579)tGg>tAg	p.W193*	KIF17_ENST00000375044.1_Nonsense_Mutation_p.W93*|KIF17_ENST00000400463.3_Nonsense_Mutation_p.W193*			Q9P2E2	KIF17_HUMAN	kinesin family member 17	193	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		ACGGTTCTTCCAGCCAGTCTC	0.582000													18	71					0	0	0.00121646	0	0
EIF3D	8664	broad.mit.edu	37	22	36922104	36922104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:36922104G>A	ENST00000216190.8	-	2	435	c.65C>T	c.(64-66)cCc>cTc	p.P22L	EIF3D_ENST00000541106.1_Missense_Mutation_p.P22L|EIF3D_ENST00000405442.1_Missense_Mutation_p.P22L	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	22						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						AAACTGCTCGGGAACCGCACA	0.512000													13	107					0	0	0.00185496	0	0
FAM21B	55747	broad.mit.edu	37	10	47915888	47915888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:47915888C>T	ENST00000358474.5	+	15	1295	c.1295C>T	c.(1294-1296)tCt>tTt	p.S432F		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN	family with sequence similarity 21, member B	432					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GTTACCTTATCTTCCAGCAAA	0.408000													22	74					0	0	0.00178596	0	0
CACNA1E	777	broad.mit.edu	37	1	181767489	181767489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:181767489G>A	ENST00000526775.1	+	46	6440	c.6275G>A	c.(6274-6276)aGa>aAa	p.R2092K	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2105K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2111K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2135K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R2154K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R2043K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1718K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2154					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						ACCCCAAGAAGAAGTCGTCGG	0.592000													18	108					0	0	0.00121646	0	0
PREP	5550	broad.mit.edu	37	6	105736770	105736770	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:105736770C>T	ENST00000369110.3	-	11	1510		c.e11-1			NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase						proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GGTAGAAAATCTAGAATATAA	0.338000													18	20					0	0	0.00152264	0	0
SLC24A2	25769	broad.mit.edu	37	9	19520939	19520939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:19520939C>T	ENST00000341998.2	-	9	1750	c.1689G>A	c.(1687-1689)atG>atA	p.M563I	SLC24A2_ENST00000286344.3_Missense_Mutation_p.M546I	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	563					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)		TGGACACAGCCATGTCCCCTA	0.512000													10	2					0	0	0.000673444	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028057	59028057	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:59028057G>A	ENST00000594051.1	-	2	1464	c.984C>T	c.(982-984)ccC>ccT	p.P328P	ZBTB45_ENST00000600990.1_Silent_p.P328P|ZBTB45_ENST00000354590.3_Silent_p.P328P			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	328	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		AGAGTGCAACGGGCGGCCCTG	0.692000													7	21					0	0	0.000157383	0	0
SARDH	1757	broad.mit.edu	37	9	136599167	136599167	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:136599167C>T	ENST00000371872.4	-	2	386	c.129G>A	c.(127-129)caG>caA	p.Q43Q	SARDH_ENST00000298628.5_Silent_p.Q43Q|SARDH_ENST00000439388.1_Silent_p.Q43Q|SARDH_ENST00000422262.2_Intron	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	43					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TCAGGGTCCGCTGATATGGCA	0.687000													11	49					0	0	0.00136819	0	0
MYLK	4638	broad.mit.edu	37	3	123444892	123444892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:123444892G>A	ENST00000360772.3	-	13	1928	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	MYLK_ENST00000360304.3_Missense_Mutation_p.S517F|MYLK_ENST00000359169.1_Missense_Mutation_p.S517F|MYLK_ENST00000346322.5_Missense_Mutation_p.S448F|MYLK_ENST00000475616.1_Missense_Mutation_p.S517F			Q15746	MYLK_HUMAN	myosin light chain kinase	517	Ig-like C2-type 4.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGGACACTGGAGAAGGAGGG	0.597000													10	20					0	0	0.000978159	0	0
APBA1	320	broad.mit.edu	37	9	72067079	72067079	+	Missense_Mutation	SNP	C	C	T	rs140108483		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:72067079C>T	ENST00000265381.4	-	9	2149	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	643	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ATCAGGTCATCGTTGTACATG	0.517000													53	106					0	0	0.000781405	0	0
TAAR1	134864	broad.mit.edu	37	6	132966382	132966382	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:132966382C>T	ENST00000275216.1	-	1	760	c.761G>A	c.(760-762)gGg>gAg	p.G254E		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	254						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	CATCACAATCCCCAATGTCTT	0.378000													12	12					0	0	0.00136819	0	0
CSRNP1	64651	broad.mit.edu	37	3	39185386	39185386	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:39185386C>T	ENST00000273153.5	-	5	1107	c.930G>A	c.(928-930)agG>agA	p.R310R	CSRNP1_ENST00000514182.1_Silent_p.R310R	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	310					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CCTCCAGCTCCCTAAAGCTCT	0.607000													22	23					0	0	0.00278032	0	0
PDCL	5082	broad.mit.edu	37	9	125582721	125582721	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:125582721G>A	ENST00000259467.4	-	4	714	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	183					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TATGAACCATGATGACAATGC	0.463000													36	67					0	0	0.000953801	0	0
OR4M1	441670	broad.mit.edu	37	14	20248664	20248664	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:20248664C>T	ENST00000315957.4	+	1	264	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTATGTATTTCCTGTTGGCTA	0.393000													38	132					0	0	0.00128727	0	0
RIF1	55183	broad.mit.edu	37	2	152300067	152300067	+	Silent	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:152300067T>A	ENST00000243326.4	+	17	2313	c.1830T>A	c.(1828-1830)ctT>ctA	p.L610L	RIF1_ENST00000444746.2_Silent_p.L610L|RIF1_ENST00000453091.2_Silent_p.L610L|RIF1_ENST00000428287.2_Silent_p.L610L|RIF1_ENST00000430328.2_Silent_p.L610L			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	610					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGGAATCACTTGTAGGCTGTG	0.308000													79	111					0	0	0.000781405	0	0
KIAA0355	9710	broad.mit.edu	37	19	34833008	34833008	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:34833008C>T	ENST00000299505.6	+	10	3042	c.2169C>T	c.(2167-2169)tcC>tcT	p.S723S		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	723										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					AGCAGCAGTCCCCAAAGCAGC	0.657000													25	91					0	0	0.00047179	0	0
MC4R	4160	broad.mit.edu	37	18	58038893	58038893	+	Silent	SNP	G	G	A	rs148026669		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:58038893G>A	ENST00000299766.3	-	1	1108	c.690C>T	c.(688-690)ccC>ccT	p.P230P		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	230					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	p.P230P(1)		endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				CACCAGTGCCGGGGAGGACAG	0.532000													13	54					0	0	0.00136819	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69097034	69097034	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:69097034G>A	ENST00000332644.5	-	7	734	c.573C>T	c.(571-573)tcC>tcT	p.S191S		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	191	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CCCCCTCCAGGGAGCTTTTTC	0.498000													18	26					0	0	0.00121646	0	0
GBP1	2633	broad.mit.edu	37	1	89520397	89520397	+	Missense_Mutation	SNP	C	C	T	rs150057659		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:89520397C>T	ENST00000370473.4	-	10	1852	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	545					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CTCTCTTGCTCTTTCAGCAAC	0.438000													65	474					0	0	0.000781405	0	0
GRIN2B	2904	broad.mit.edu	37	12	14019004	14019004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:14019004C>T	ENST00000279593.3	-	2	348	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	47					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E47K(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGGCCACCTCGTCGGAAGTG	0.587000													9	53					0	0	0.000274275	0	0
COL6A3	1293	broad.mit.edu	37	2	238253147	238253147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:238253147C>T	ENST00000295550.4	-	36	7966	c.7514G>A	c.(7513-7515)gGa>gAa	p.G2505E	COL6A3_ENST00000353578.4_Missense_Mutation_p.G2299E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1898E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2305E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2304E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2299E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2505	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CATTAGGAATCCGTTCCTCAC	0.507000													67	70					0	0	0.000781405	0	0
RYR2	6262	broad.mit.edu	37	1	237777673	237777673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:237777673C>T	ENST00000366574.2	+	37	5562	c.5245C>T	c.(5245-5247)Cca>Tca	p.P1749S	RYR2_ENST00000542537.1_Missense_Mutation_p.P1733S|RYR2_ENST00000360064.6_Missense_Mutation_p.P1747S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1749	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			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)			ACACGGCCTTCCAGGGATCGG	0.512000													5	45					0	0	0.000602214	0	0
OR2F1	26211	broad.mit.edu	37	7	143657257	143657257	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:143657257A>C	ENST00000392899.1	+	1	231	c.194A>C	c.(193-195)aAc>aCc	p.N65T		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TTTCTCACCAACCTCTCCCTT	0.502000													42	182					0	0	0.000781405	0	0
ABCA4	24	broad.mit.edu	37	1	94578619	94578619	+	Missense_Mutation	SNP	G	G	A	rs150452677		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:94578619G>A	ENST00000370225.3	-	2	156	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C	ABCA4_ENST00000535735.1_Missense_Mutation_p.R24C	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	24			R -> H (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACCACAAAGCGAATCTGGAAA	0.428000													77	72					0	0	0.000781405	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634624	70634624	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:70634624C>T	ENST00000381269.2	-	2	1269	c.516G>A	c.(514-516)ggG>ggA	p.G172G	SLC8A3_ENST00000356921.2_Silent_p.G172G|SLC8A3_ENST00000534137.1_Silent_p.G172G|SLC8A3_ENST00000357887.3_Silent_p.G172G|SLC8A3_ENST00000528359.1_Silent_p.G172G	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	172					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)		AGGCTGCACTCCCTACAATGG	0.493000													9	51					0	0	0.000673444	0	0
MAP4K4	9448	broad.mit.edu	37	2	102480488	102480488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:102480488C>T	ENST00000324219.4	+	17	2146	c.2072C>T	c.(2071-2073)tCa>tTa	p.S691L	MAP4K4_ENST00000413150.2_Intron|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000425019.1_Intron|MAP4K4_ENST00000350878.4_Missense_Mutation_p.S586L|MAP4K4_ENST00000350198.4_Intron|MAP4K4_ENST00000347699.4_Intron			O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	617					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGGTCTAGATCAGACAGTGAC	0.453000													18	39					0	0	0.000566183	0	0
RDH11	51109	broad.mit.edu	37	14	68156954	68156954	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:68156954G>A	ENST00000553306.1	-	1	130	c.131C>T	c.(130-132)cCc>cTc	p.P44L	RDH11_ENST00000553384.1_Silent_p.T200T|RDH11_ENST00000428130.2_Intron|RDH11_ENST00000381346.4_Silent_p.T213T|RP11-1012A1.4_ENST00000554493.1_5'UTR																							CCAGTTCCTGGGTGAAGAGGA	0.512000													18	56					0	0	0.00278032	0	0
GCA	25801	broad.mit.edu	37	2	163204218	163204218	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:163204218C>T	ENST00000437150.2	+	2	319	c.158C>T	c.(157-159)tCc>tTc	p.S53F	GCA_ENST00000233612.4_Missense_Mutation_p.S34F|GCA_ENST00000473240.1_3'UTR|GCA_ENST00000429691.2_Missense_Mutation_p.S34F	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	53	EF-hand 1.				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						GCTGGTGACTCCGTGTATACT	0.423000													13	38					0	0	0.00244969	0	0
FRMPD1	22844	broad.mit.edu	37	9	37745844	37745844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:37745844C>T	ENST00000539465.1	+	16	4408	c.3815C>T	c.(3814-3816)tCa>tTa	p.S1272L	FRMPD1_ENST00000377765.3_Missense_Mutation_p.S1272L|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1272						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TTAGAAACTTCAAACCATTGC	0.488000													25	98					0	0	0.000586117	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389992	150389992	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:150389992G>A	ENST00000223293.5	+	3	712	c.618G>A	c.(616-618)ttG>ttA	p.L206L		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	206						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGATCTGTTGATGGAGAAAA	0.438000													14	69					0	0	0.000308642	0	0
SHROOM2	357	broad.mit.edu	37	X	9900626	9900626	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:9900626C>T	ENST00000380913.3	+	6	3393	c.3303C>T	c.(3301-3303)tcC>tcT	p.S1101S	SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_5'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1101					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCCCTGCGTCCCTGGATGTGT	0.687000													9	20					0	0	0.000274275	0	0
HERC5	51191	broad.mit.edu	37	4	89390312	89390312	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:89390312C>T	ENST00000264350.3	+	9	1292	c.1139C>T	c.(1138-1140)tCa>tTa	p.S380L	HERC5_ENST00000508159.1_Missense_Mutation_p.S18L	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	380					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)		TTACAGAATTCATATGTTAAT	0.373000													14	11					0	0	0.000308642	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39144264	39144264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:39144264C>T	ENST00000297668.6	-	11	1802	c.1729G>A	c.(1729-1731)Ggc>Agc	p.G577S	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.G489S|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.G577S|CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.G577S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	577	EGF-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CCCGTATAGCCTGTGCCTAGA	0.493000													6	5					0	0	0.000673444	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70594480	70594480	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:70594480C>T	ENST00000260126.3	-	7	2427	c.1721G>A	c.(1720-1722)gGa>gAa	p.G574E	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G519E|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G574E	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	574	Kazal-like.					integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GTATGTAATTCCATCTGATCC	0.433000													14	48					0	0	0.000566183	0	0
TSPAN19	144448	broad.mit.edu	37	12	85421700	85421700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:85421700C>T	ENST00000532498.2	-	4	321	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	TSPAN19_ENST00000547403.2_Intron	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	81						integral to membrane				ovary(1)	1						CATCTGATTTCGTTGTGAATT	0.294000													4	4					0	0	0.00024832	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236042	33236042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:33236042C>T	ENST00000401073.2	+	6	1332	c.1262C>T	c.(1261-1263)tCc>tTc	p.S421F	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.S373F|KIAA1522_ENST00000373480.1_Missense_Mutation_p.S362F	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	362	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CACTCTCAATCCTCCGACACC	0.647000													12	16					0	0	0.00185496	0	0
OR6C2	341416	broad.mit.edu	37	12	55846191	55846191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:55846191C>T	ENST00000322678.1	+	1	194	c.194C>T	c.(193-195)tCc>tTc	p.S65F	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						AGAAATTTTTCCTTCTTAGAA	0.398000													29	20					0	0	0.00106085	0	0
GAS2L3	283431	broad.mit.edu	37	12	101005900	101005900	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:101005900C>T	ENST00000537247.1	+	6	1068	c.114C>T	c.(112-114)ctC>ctT	p.L38L	GAS2L3_ENST00000266754.5_Silent_p.L142L|GAS2L3_ENST00000547754.1_Silent_p.L142L|GAS2L3_ENST00000539410.1_Silent_p.L142L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	142					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						AAACTTACCTCTTTGAATCTG	0.383000													26	68					0	0	0.00127121	0	0
MYH2	4620	broad.mit.edu	37	17	10439901	10439901	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:10439901C>T	ENST00000245503.5	-	17	2304	c.1920G>A	c.(1918-1920)aaG>aaA	p.K640K	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Silent_p.K640K|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.K640K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	640	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TACCACCTTTCTTGGCCCCTC	0.418000													5	9					0	0	0.00198382	0	0
CELSR1	9620	broad.mit.edu	37	22	46835148	46835148	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:46835148C>T	ENST00000262738.3	-	3	4343	c.4344G>A	c.(4342-4344)ccG>ccA	p.P1448P		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1448	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	p.P1448P(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGGACTGGGGCGGGAAGCTCC	0.652000													31	132					0	0	0.00058488	0	0
PCNT	5116	broad.mit.edu	37	21	47819662	47819662	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:47819662C>T	ENST00000359568.5	+	25	4850	c.4743C>T	c.(4741-4743)ctC>ctT	p.L1581L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1581					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGGCCCAGCTCCAGGAAGAAG	0.473000													38	112					0	0	0.000814825	0	0
CCDC159	126075	broad.mit.edu	37	19	11464191	11464191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:11464191C>T	ENST00000588790.1	+	10	1079	c.632C>T	c.(631-633)cCg>cTg	p.P211L	CCDC159_ENST00000458408.1_Missense_Mutation_p.P211L			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	326										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						GAAGAGATACCGCAGGGAGCC	0.567000													5	24					0	0	0.00116845	0	0
TACR3	6870	broad.mit.edu	37	4	104640632	104640632	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:104640632G>A	ENST00000304883.2	-	1	341	c.201C>T	c.(199-201)ccC>ccT	p.P67P		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	67						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGGGCTGGGAGGGCGCGGGGG	0.672000													22	36					0	0	0.00229938	0	0
ARAP1	116985	broad.mit.edu	37	11	72404832	72404832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:72404832G>A	ENST00000359373.5	-	28	4564	c.3713C>T	c.(3712-3714)gCg>gTg	p.A1238V	ARAP1_ENST00000455638.2_Missense_Mutation_p.A1238V|ARAP1_ENST00000334211.8_Missense_Mutation_p.A993V|ARAP1_ENST00000429686.1_Missense_Mutation_p.A932V|ARAP1_ENST00000426523.1_Missense_Mutation_p.A993V|ARAP1_ENST00000495878.1_5'UTR|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000393605.3_Missense_Mutation_p.A998V|ARAP1_ENST00000393609.3_Missense_Mutation_p.A1238V			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1238	Ras-associating.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CACCTTCTCCGCAAAGTGCAG	0.627000													17	17					0	0	0.00152264	0	0
DENND3	22898	broad.mit.edu	37	8	142161922	142161922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:142161922G>A	ENST00000519811.1	+	7	1130	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	DENND3_ENST00000424248.1_Missense_Mutation_p.E274K|DENND3_ENST00000262585.2_Missense_Mutation_p.E274K			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	274	dDENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CGACCACTTCGAAGAAGTCAG	0.552000													33	86					0	0	0.00111076	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555256	44555256	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:44555256T>A	ENST00000330682.2	-	1	1193	c.958A>T	c.(958-960)Atg>Ttg	p.M320L	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	320	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TACACCGGCATCTTAGCGTTC	0.657000													74	1381					0	0	0.00170553	0	0
LILRB2	10288	broad.mit.edu	37	19	54783445	54783445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:54783445C>T	ENST00000391748.1	-	5	540	c.413G>A	c.(412-414)gGa>gAa	p.G138E	LILRB2_ENST00000391746.1_Missense_Mutation_p.G138E|LILRB2_ENST00000391749.4_Missense_Mutation_p.G138E|LILRB2_ENST00000434421.1_Missense_Mutation_p.G22E|LILRB2_ENST00000314446.5_Missense_Mutation_p.G138E	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	138	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCACCCTTCCTCCTGAGGT	0.582000													46	51					0	0	0.000781405	0	0
FRMD5	84978	broad.mit.edu	37	15	44180422	44180422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:44180422C>T	ENST00000417257.1	-	10	1011	c.835G>A	c.(835-837)Gcg>Acg	p.A279T	FRMD5_ENST00000402883.1_Missense_Mutation_p.A279T|FRMD5_ENST00000484674.1_Missense_Mutation_p.A185T	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	279	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TGCTTACACGCTTCAGGAGTT	0.428000													26	10					0	0	0.00127121	0	0
DUSP27	92235	broad.mit.edu	37	1	167095448	167095448	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:167095448C>T	ENST00000361200.2	+	6	1246	c.1080C>T	c.(1078-1080)ctC>ctT	p.L360L	DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_Silent_p.L360L|DUSP27_ENST00000271385.5_Silent_p.L360L			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	360					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGCAGGGCCTCCTCTCAGACA	0.652000													4	28					0	0	0.000602214	0	0
SYT15	83849	broad.mit.edu	37	10	46965114	46965114	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:46965114C>T	ENST00000374323.3	-	5	1577	c.990G>A	c.(988-990)tcG>tcA	p.S330S	SYT15_ENST00000374321.4_Silent_p.S277S|SYT15_ENST00000503753.1_Silent_p.S277S|SYT15_ENST00000374325.3_Silent_p.S277S|RP11-38L15.3_ENST00000506914.1_RNA			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	277	C2 2.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CGCCAAACTCCGAGGGGGGCT	0.637000													9	71					0	0	0.000442599	0	0
WIPF2	147179	broad.mit.edu	37	17	38434469	38434469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:38434469C>T	ENST00000323571.4	+	8	1555	c.1315C>T	c.(1315-1317)Ctc>Ttc	p.L439F	WIPF2_ENST00000585043.1_Missense_Mutation_p.L439F|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000536600.1_Missense_Mutation_p.L181F|WIPF2_ENST00000394103.3_Missense_Mutation_p.L181F|WIPF2_ENST00000583130.1_Missense_Mutation_p.L439F	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	439						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						GCCACCCATTCTCAGGTGAAG	0.512000										HNSCC(43;0.11)			4	16					0	0	0.00116845	0	0
CCR1	1230	broad.mit.edu	37	3	46245447	46245447	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:46245447C>T	ENST00000296140.3	-	2	483	c.358G>A	c.(358-360)Gag>Aag	p.E120K	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	120					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AAAAAGATCTCGCTGTACAAG	0.502000													24	77					0	0	0.000720815	0	0
URB2	9816	broad.mit.edu	37	1	229773366	229773366	+	Silent	SNP	G	G	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:229773366G>T	ENST00000258243.2	+	4	3142	c.3006G>T	c.(3004-3006)ggG>ggT	p.G1002G		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1002						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AAGTGATAGGGACGTTCTTAG	0.428000													30	40					7.38237e-10	2.71937e-09	0.00106085	1	0
SALL3	27164	broad.mit.edu	37	18	76754347	76754347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:76754347G>A	ENST00000536229.3	+	1	2666	c.1957G>A	c.(1957-1959)Gac>Aac	p.D653N	SALL3_ENST00000575389.2_Missense_Mutation_p.D786N|SALL3_ENST00000537592.2_Missense_Mutation_p.D786N			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	786					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCTGGCCTACGACGACAAGAA	0.652000													6	24					0	0	0.000157383	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382928	56382928	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:56382928C>T	ENST00000355701.3	-	28	6204	c.5334G>A	c.(5332-5334)caG>caA	p.Q1778Q	BZRAP1_ENST00000268893.6_Silent_p.Q1718Q|BZRAP1_ENST00000343736.4_Silent_p.Q1778Q	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1778	SH3 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGAACTCTCCTGGGGGTTGT	0.602000													17	28					0	0	0.00121646	0	0
ZMAT1	84460	broad.mit.edu	37	X	101139513	101139513	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:101139513G>A	ENST00000372782.3	-	7	933	c.886C>T	c.(886-888)Cat>Tat	p.H296Y	ZMAT1_ENST00000540921.1_Missense_Mutation_p.H296Y|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.H125Y	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	125						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTCTTTGAATGAGGTAACTGC	0.383000													22	3					0	0	0.00188189	0	0
PRDM9	56979	broad.mit.edu	37	5	23527808	23527808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:23527808G>A	ENST00000296682.3	+	11	2793	c.2611G>A	c.(2611-2613)Gat>Aat	p.D871N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	871					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGCTTTAGCGATAGGTCAAG	0.547000										HNSCC(3;0.000094)			19	46					0	0	0.000958276	0	0
SPEF2	79925	broad.mit.edu	37	5	35641617	35641617	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:35641617C>T	ENST00000440995.2	+	3	246	c.246C>T	c.(244-246)gcC>gcT	p.A82A	SPEF2_ENST00000356031.3_Silent_p.A82A|SPEF2_ENST00000282469.6_Silent_p.A82A|SPEF2_ENST00000509059.1_Silent_p.A82A			Q9C093	SPEF2_HUMAN	sperm flagellar 2	82	CH.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAATGTGGCCCATGGCATCA	0.423000													9	24					0	0	0.000274275	0	0
C5AR1	728	broad.mit.edu	37	19	47823499	47823499	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:47823499C>T	ENST00000355085.3	+	2	487	c.465C>T	c.(463-465)atC>atT	p.I155I		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	155					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TGGCCTGGATCGCCTGTGCCG	0.607000													25	115					0	0	0.001512	0	0
TCL1B	9623	broad.mit.edu	37	14	96152929	96152929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:96152929C>T	ENST00000340722.7	+	1	176	c.125C>T	c.(124-126)tCg>tTg	p.S42L	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	42										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TTCAATCCCTCGCGTAGGGAA	0.672000													15	36					0	0	0.00244969	0	0
DDX24	57062	broad.mit.edu	37	14	94545680	94545680	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:94545680G>A	ENST00000330836.5	-	2	540	c.409C>T	c.(409-411)Ccg>Tcg	p.P137S	DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_Missense_Mutation_p.P94S	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	137					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CCAGCCTCCGGATCATCACAA	0.453000													31	103					0	0	0.00178596	0	0
CAMK1D	57118	broad.mit.edu	37	10	12870807	12870807	+	Missense_Mutation	SNP	C	C	T	rs148446769		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:12870807C>T	ENST00000378847.3	+	11	1416	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L		NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	360	Ser-rich.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.S360L(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		ATTTCTTCTTCGTCGGGGGTC	0.592000													83	112					0	0	0.000781405	0	0
BDKRB2	624	broad.mit.edu	37	14	96707829	96707829	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:96707829G>A	ENST00000542454.2	+	3	4171	c.1083G>A	c.(1081-1083)ggG>ggA	p.G361G	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Silent_p.G388G|BDKRB2_ENST00000539359.1_Silent_p.G361G|BDKRB2_ENST00000554311.1_Silent_p.G388G			P30411	BKRB2_HUMAN	bradykinin receptor B2	388					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		ACTGGGCAGGGAGCAGACAGT	0.552000													14	35					0	0	0.000308642	0	0
TTN	7273	broad.mit.edu	37	2	179566258	179566258	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179566258C>T	ENST00000589042.1	-	110	30819	c.30595G>A	c.(30595-30597)Gaa>Aaa	p.E10199K	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E9882K|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E8955K|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9882	Glu-rich.						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)			GTCTTACCTTCTGGTGGCACT	0.458000													44	54					0	0	0.000781405	0	0
C1orf168	199920	broad.mit.edu	37	1	57257903	57257903	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:57257903G>A	ENST00000343433.6	-	2	663	c.583C>T	c.(583-585)Cct>Tct	p.P195S	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	195										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TTCTGGGAAGGAAGAGTCTGG	0.468000													23	82					0	0	0.00047179	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871325	51871325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:51871325C>T	ENST00000371497.5	+	2	2215	c.1328C>T	c.(1327-1329)cCc>cTc	p.P443L	TSHZ2_ENST00000329613.6_Missense_Mutation_p.P440L|TSHZ2_ENST00000603338.2_Missense_Mutation_p.P440L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	443					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCTCTGGCTCCCAAGCCATCC	0.478000													41	140					0	0	0.00285205	0	0
FUT3	2525	broad.mit.edu	37	19	5844594	5844594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:5844594G>A	ENST00000303225.6	-	3	891	c.257C>T	c.(256-258)cCc>cTc	p.P86L	FUT3_ENST00000589918.1_Missense_Mutation_p.P86L|FUT3_ENST00000458379.2_Missense_Mutation_p.P86L|FUT3_ENST00000589620.1_Missense_Mutation_p.P86L	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	86					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GGCTGTGCCGGGCACCATCTC	0.607000													29	107					0	0	0.00178596	0	0
TTC31	64427	broad.mit.edu	37	2	74718670	74718670	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:74718670C>T	ENST00000410003.1	+	8	756	c.747C>T	c.(745-747)ccC>ccT	p.P249P	TTC31_ENST00000233623.5_Silent_p.P249P|TTC31_ENST00000442235.2_Silent_p.P105P|TTC31_ENST00000463189.1_3'UTR			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	249							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GGGATTGGCCCCTCAGTGCCC	0.567000													135	141					0	0	0.000781405	0	0
OR2G6	391211	broad.mit.edu	37	1	248685470	248685470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:248685470G>A	ENST00000343414.4	+	1	555	c.523G>A	c.(523-525)Gat>Aat	p.D175N		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCGCACACTGGATCATATTTT	0.537000													18	52					0	0	0.00074312	0	0
ACAN	176	broad.mit.edu	37	15	89402028	89402028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:89402028G>A	ENST00000439576.2	+	12	6586	c.6212G>A	c.(6211-6213)gGa>gAa	p.G2071E	ACAN_ENST00000561243.1_Missense_Mutation_p.G2071E|ACAN_ENST00000559004.1_Missense_Mutation_p.G2071E|ACAN_ENST00000352105.7_Missense_Mutation_p.G2071E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2071					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGTCCAGTGGAAAAGTCTCC	0.522000													9	14					0	0	0.000442599	0	0
PLA2G3	50487	broad.mit.edu	37	22	31531921	31531921	+	Splice_Site	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:31531921A>C	ENST00000215885.3	-	7	1570	c.1316_splice	c.e7-1	p.C440_splice		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	440					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TCTCTGGAACAGCTGTAAGGA	0.602000													9	75					0	0	0.000442599	0	0
CD1D	912	broad.mit.edu	37	1	158152903	158152903	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:158152903G>A	ENST00000368171.3	+	5	1342	c.843G>A	c.(841-843)gtG>gtA	p.V281V		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	281	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCTGTCGGGTGAAGCACAGCA	0.602000													22	74					0	0	0.000720815	0	0
AMBN	258	broad.mit.edu	37	4	71467169	71467169	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:71467169T>G	ENST00000322937.6	+	6	432	c.329T>G	c.(328-330)cTc>cGc	p.L110R	AMBN_ENST00000449493.2_Intron	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	110					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			CCCCCACCTCTCCCATCACAG	0.483000											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	113					0	0	0.000781405	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111792	64111792	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:64111792C>T	ENST00000356786.5	+	14	1823	c.1779C>T	c.(1777-1779)ggC>ggT	p.G593G	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	593					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGAAGGCTGGCCGTAGATCCT	0.642000													8	10					0	0	0.000442599	0	0
TBC1D9	23158	broad.mit.edu	37	4	141600298	141600298	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:141600298G>A	ENST00000442267.2	-	5	723	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	217						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ACATCAGGCAGAAGCAGGGTG	0.493000													24	54					0	0	0.00106085	0	0
AFF2	2334	broad.mit.edu	37	X	148037775	148037775	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:148037775C>G	ENST00000370460.2	+	11	2679	c.2200C>G	c.(2200-2202)Cct>Gct	p.P734A	AFF2_ENST00000342251.3_Missense_Mutation_p.P701A|AFF2_ENST00000286437.5_Missense_Mutation_p.P375A|AFF2_ENST00000370457.5_Missense_Mutation_p.P701A	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	734					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CAAAGTCCTGCCTCCGTGCAT	0.468000													46	48					0	0	0.000781405	0	0
EDNRA	1909	broad.mit.edu	37	4	148461043	148461043	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:148461043C>T	ENST00000324300.5	+	6	1490	c.975C>T	c.(973-975)agC>agT	p.S325S	EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000506066.1_Silent_p.S216S|EDNRA_ENST00000358556.4_Silent_p.S216S|EDNRA_ENST00000511804.1_Silent_p.S100S|EDNRA_ENST00000503721.1_3'UTR	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	325					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	TTCATTTAAGCCGTATATTGA	0.383000													43	82					0	0	0.00222228	0	0
PDE4B	5142	broad.mit.edu	37	1	66833690	66833690	+	Missense_Mutation	SNP	C	C	T	rs151031090		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:66833690C>T	ENST00000423207.2	+	13	2044	c.1559C>T	c.(1558-1560)aCg>aTg	p.T520M	PDE4B_ENST00000329654.4_Missense_Mutation_p.T535M|PDE4B_ENST00000480109.2_Missense_Mutation_p.T302M|PDE4B_ENST00000371045.5_Missense_Mutation_p.T363M|PDE4B_ENST00000371049.3_Missense_Mutation_p.T535M	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	535					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	ATGGTAGAAACGAAGAAAGTT	0.368000													9	30					0	0	0.000274275	0	0
ITIH6	347365	broad.mit.edu	37	X	54784275	54784275	+	Silent	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:54784275T>G	ENST00000218436.6	-	8	2261	c.2232A>C	c.(2230-2232)ctA>ctC	p.L744L		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	744	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TCTGGTGTGATAGAGAGCCGG	0.517000													85	5					0	0	0.000781405	0	0
ATP1A2	477	broad.mit.edu	37	1	160105660	160105660	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:160105660C>T	ENST00000361216.3	+	17	2405	c.2316C>T	c.(2314-2316)tcC>tcT	p.S772S	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.S772S	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	772					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGAAGAAATCCATCGCCTACA	0.567000													24	100					0	0	0.00047179	0	0
PRODH	5625	broad.mit.edu	37	22	18905843	18905843	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:18905843G>A	ENST00000357068.6	-	11	1678	c.1413C>T	c.(1411-1413)aaC>aaT	p.N471N	PRODH_ENST00000334029.2_Silent_p.N363N|PRODH_ENST00000420436.1_Silent_p.N363N	NM_016335.4	NP_057419.4	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	471					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GGTACATGGCGTTGGTGGCCT	0.647000													56	134					0	0	0.000781405	0	0
SRD5A1	6715	broad.mit.edu	37	5	6633927	6633927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:6633927C>T	ENST00000274192.5	+	1	472	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	SRD5A1_ENST00000537411.1_Silent_p.S88S|SRD5A1_ENST00000504286.1_3'UTR|SRD5A1_ENST00000538824.1_Silent_p.S88S	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	80					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	CCCGCGTCTCCGCAGCGCGCC	0.741000													7	37					0	0	0.000274275	0	0
GABRA3	2556	broad.mit.edu	37	X	151532952	151532952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:151532952C>T	ENST00000370314.4	-	2	329	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	GABRA3_ENST00000370311.1_Missense_Mutation_p.E31K|GABRA3_ENST00000535043.1_Missense_Mutation_p.E31K	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	31					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CGTCTTGATTCCCCTTGACCA	0.448000													75	5					0	0	0.000781405	0	0
NKD1	85407	broad.mit.edu	37	16	50667569	50667569	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:50667569G>A	ENST00000268459.3	+	10	1514	c.1290G>A	c.(1288-1290)gaG>gaA	p.E430E		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	430					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TGGGGCGGGAGCACCTGCGGG	0.667000													5	6					0	0	0.00116845	0	0
KRT32	3882	broad.mit.edu	37	17	39623239	39623239	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:39623239C>A	ENST00000225899.3	-	1	442	c.339G>T	c.(337-339)agG>agT	p.R113S		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	113	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GCTGCCGCACCCTCGTCAGGT	0.597000													44	80					3.39706e-21	1.25707e-20	0.000781405	1	0
DENND2C	163259	broad.mit.edu	37	1	115130354	115130354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:115130354C>T	ENST00000393274.1	-	19	3276	c.2651G>A	c.(2650-2652)cGg>cAg	p.R884Q	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.R827Q|DENND2C_ENST00000393277.1_Missense_Mutation_p.R772Q	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	884										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCACTTTTCCGAAGCTCTCG	0.398000													14	91					0	0	0.000422831	0	0
TNRC6B	23112	broad.mit.edu	37	22	40696535	40696535	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:40696535C>A	ENST00000454349.2	+	13	3996	c.3785C>A	c.(3784-3786)tCt>tAt	p.S1262Y	TNRC6B_ENST00000335727.8_Missense_Mutation_p.S1152Y|TNRC6B_ENST00000402203.1_Missense_Mutation_p.S458Y|TNRC6B_ENST00000301923.9_Missense_Mutation_p.S458Y	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1262					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CCCCAGTTATCTCCTCAACAA	0.433000													30	42					6.04164e-23	2.23647e-22	0.00209593	1	0
SLC24A3	57419	broad.mit.edu	37	20	19566125	19566125	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:19566125C>T	ENST00000328041.6	+	6	746	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	183						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTGGCACCATCGTGGGCTCAG	0.542000													54	149					0	0	0.000781405	0	0
DSTYK	25778	broad.mit.edu	37	1	205116758	205116758	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:205116758G>A	ENST00000367162.3	-	13	2748	c.2718C>T	c.(2716-2718)ctC>ctT	p.L906L	DSTYK_ENST00000367160.4_Silent_p.L565L|DSTYK_ENST00000367161.3_Silent_p.L861L	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	906	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						TGATGCCCTGGAGCATGGGCT	0.507000													54	168					0	0	0.000781405	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68704004	68704004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:68704004G>A	ENST00000283916.6	-	5	459	c.361C>T	c.(361-363)Caa>Taa	p.Q121*	TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_Nonsense_Mutation_p.Q4*|RP11-453E17.1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	121	SEA.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CTAGTGAATTGAAATTTCATG	0.333000													7	31					0	0	0.000157383	0	0
MROH2B	133558	broad.mit.edu	37	5	41004490	41004490	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:41004490G>A	ENST00000399564.4	-	37	4602	c.4152C>T	c.(4150-4152)taC>taT	p.Y1384Y	MROH2B_ENST00000506092.2_Silent_p.Y939Y	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TTTCCTTGAAGTAGAAGCTCA	0.468000													74	54					0	0	0.000781405	0	0
RXRG	6258	broad.mit.edu	37	1	165380213	165380213	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:165380213G>A	ENST00000359842.5	-	5	1058	c.756C>T	c.(754-756)tcC>tcT	p.S252S	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	252	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	TGTCACCATAGGATTCTGTCT	0.463000													14	63					0	0	0.000308642	0	0
GABRA6	2559	broad.mit.edu	37	5	161119131	161119131	+	Silent	SNP	G	G	A	rs144044129		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:161119131G>A	ENST00000523217.1	+	8	1223	c.981G>A	c.(979-981)agG>agA	p.R327R	GABRA6_ENST00000274545.5_Silent_p.R337R	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	337					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.R337R(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGGCCAAAAGGAAGGCACAGT	0.418000										TCGA Ovarian(5;0.080)			24	48					0	0	0.000586117	0	0
CYP26C1	340665	broad.mit.edu	37	10	94822678	94822678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:94822678G>A	ENST00000285949.5	+	3	631	c.631G>A	c.(631-633)Gcc>Acc	p.A211T		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	211					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				CGCCACGCTGGCCCGGACCTT	0.672000													13	22					0	0	0.00074312	0	0
OR13C8	138802	broad.mit.edu	37	9	107331637	107331637	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:107331637C>T	ENST00000335040.1	+	1	189	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ATTTCTTCCTCTGTAATCTTT	0.428000													59	197					0	0	0.000781405	0	0
SCN11A	11280	broad.mit.edu	37	3	38968341	38968341	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:38968341G>A	ENST00000302328.3	-	4	768	c.570C>T	c.(568-570)ttC>ttT	p.F190F	SCN11A_ENST00000444237.2_Silent_p.F190F|SCN11A_ENST00000450244.1_Silent_p.F190F|SCN11A_ENST00000456224.3_Silent_p.F190F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	190					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GATCTCGAAGGAAAGAAAACT	0.368000													35	116					0	0	0.00283554	0	0
RAB40C	57799	broad.mit.edu	37	16	677503	677503	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:677503C>T	ENST00000535977.1	+	7	949	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	RAB40C_ENST00000538492.1_Silent_p.L243L|RAB40C_ENST00000248139.3_Silent_p.L243L|RAB40C_ENST00000539661.1_Silent_p.L243L	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	243					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				TTCCTACTCCCTGGCCAGCGG	0.657000													34	68					0	0	0.000953801	0	0
CCR6	1235	broad.mit.edu	37	6	167550831	167550831	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:167550831C>T	ENST00000341935.5	+	3	1665	c.1113C>T	c.(1111-1113)tcC>tcT	p.S371S	CCR6_ENST00000349984.4_Silent_p.S371S|CCR6_ENST00000400926.2_Silent_p.S371S	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	371				SSFTM -> VVLHYVIES (in Ref. 4; AAB06949).	cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		ATGCGTCGTCCTTCACTATGT	0.458000													14	20					0	0	0.000422831	0	0
SLC3A1	6519	broad.mit.edu	37	2	44528277	44528277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:44528277G>A	ENST00000410056.3	+	6	1147	c.1147G>A	c.(1147-1149)Gca>Aca	p.A383T	SLC3A1_ENST00000409229.3_Intron|SLC3A1_ENST00000409294.1_Intron|SLC3A1_ENST00000260649.6_Intron|SLC3A1_ENST00000409741.1_Intron|SLC3A1_ENST00000409380.1_Intron|SLC3A1_ENST00000409387.1_Intron			Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	385					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GTTGACCACGGCATATGCTCT	0.517000													5	40					0	0	0.000602214	0	0
TRIOBP	11078	broad.mit.edu	37	22	38130869	38130869	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:38130869G>A	ENST00000406386.3	+	9	4781	c.4526G>A	c.(4525-4527)aGa>aAa	p.R1509K	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1509					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTAGGAAAGAGAAGCCCACTC	0.647000													14	68					0	0	0.00185496	0	0
CSMD3	114788	broad.mit.edu	37	8	114185968	114185968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:114185968G>A	ENST00000297405.5	-	4	936	c.692C>T	c.(691-693)cCt>cTt	p.P231L	CSMD3_ENST00000352409.3_Missense_Mutation_p.P231L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P191L|CSMD3_ENST00000455883.2_Missense_Mutation_p.P231L|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	231	Sushi 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATAGGAACAGGAAAATCCCA	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	52					0	0	0.000978159	0	0
CTNND2	1501	broad.mit.edu	37	5	10981885	10981885	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:10981885C>T	ENST00000304623.8	-	21	3606	c.3417_splice	c.e21+1	p.Q1139_splice	CTNND2_ENST00000503622.1_Splice_Site_p.Q802_splice|CTNND2_ENST00000359640.2_Splice_Site_p.Q1081_splice|CTNND2_ENST00000511377.1_Splice_Site_p.Q1048_splice|CTNND2_ENST00000458100.2_Splice_Site_p.Q706_splice|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1139					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.Q1139H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTTACTTTACCTGGTTGTGTT	0.338000													35	81					0	0	0.00111076	0	0
TMEM176B	28959	broad.mit.edu	37	7	150493629	150493629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:150493629C>T	ENST00000447204.2	-	2	401	c.29G>A	c.(28-30)gGa>gAa	p.G10E	TMEM176B_ENST00000326442.5_Missense_Mutation_p.G10E|TMEM176B_ENST00000492607.1_Missense_Mutation_p.G10E|TMEM176B_ENST00000434545.1_Missense_Mutation_p.G10E|TMEM176B_ENST00000450753.2_Missense_Mutation_p.G10E|TMEM176B_ENST00000429904.2_Missense_Mutation_p.G10E	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	10					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATAGCAACTCCATTCACAAT	0.537000													54	38					0	0	0.000781405	0	0
ZNF222	7673	broad.mit.edu	37	19	44536305	44536305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:44536305C>T	ENST00000187879.8	+	4	640	c.478C>T	c.(478-480)Ctt>Ttt	p.L160F	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.L200F	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				CATCTCAGCCCTTCATATTCA	0.423000													88	77					0	0	0.000781405	0	0
TPO	7173	broad.mit.edu	37	2	1500483	1500483	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:1500483G>A	ENST00000345913.4	+	13	2423	c.2332G>A	c.(2332-2334)Gag>Aag	p.E778K	TPO_ENST00000349624.3_Missense_Mutation_p.E605K|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.E778K|TPO_ENST00000346956.3_Missense_Mutation_p.E778K|TPO_ENST00000382201.3_Missense_Mutation_p.E721K|TPO_ENST00000329066.4_Missense_Mutation_p.E778K|TPO_ENST00000382198.1_Missense_Mutation_p.E605K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	778	Sushi.				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCAAGGCCGGGAGCAGCTCAC	0.552000													80	102					0	0	0.000781405	0	0
ACBD3	64746	broad.mit.edu	37	1	226349293	226349293	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:226349293G>A	ENST00000366812.5	-	4	721	c.667C>T	c.(667-669)Cga>Tga	p.R223*	ACBD3_ENST00000464927.1_5'UTR	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	223	Arg-rich.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		tcctcccgtcgaagcctttcc	0.453000													11	66					0	0	0.000978159	0	0
KIAA1551	55196	broad.mit.edu	37	12	32134418	32134418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:32134418C>T	ENST00000312561.4	+	4	943	c.529C>T	c.(529-531)Cct>Tct	p.P177S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		TACACGACTTCCTGTAGCTTA	0.423000													21	53					0	0	0.00047179	0	0
CFAP54	144535	broad.mit.edu	37	12	97137855	97137855	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:97137855C>T	ENST00000524981.3	+	22	2968	c.2968C>T	c.(2968-2970)Cca>Tca	p.P990S				Q6ZTY8	CL063_HUMAN		964										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ATATGCAAATCCATTACAGCC	0.299000													12	18					0	0	0.000978159	0	0
FLRT1	23769	broad.mit.edu	37	11	63885213	63885213	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:63885213T>C	ENST00000246841.3	+	2	2517	c.1474T>C	c.(1474-1476)Tac>Cac	p.Y492H	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	464	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CAAGACAGAGTACCTGCTGAC	0.622000													11	11					0	0	0.000978159	0	0
SLC38A7	55238	broad.mit.edu	37	16	58701363	58701363	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:58701363G>A	ENST00000570101.1	-	11	2198	c.1315C>T	c.(1315-1317)Ctc>Ttc	p.L439F	SLC38A7_ENST00000564010.1_Missense_Mutation_p.L350F|SLC38A7_ENST00000566953.1_5'UTR|SLC38A7_ENST00000564100.1_Silent_p.S304S|SLC38A7_ENST00000219320.4_Missense_Mutation_p.L439F			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	439					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						GTGACCAAGAGGACTCCGTAG	0.537000													11	39					0	0	0.00136819	0	0
LRRC31	79782	broad.mit.edu	37	3	169578451	169578451	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:169578451C>T	ENST00000316428.5	-	3	442	c.385G>A	c.(385-387)Gga>Aga	p.G129R	LRRC31_ENST00000523069.1_Missense_Mutation_p.G129R|LRRC31_ENST00000264676.5_Intron|LRRC31_ENST00000397805.2_5'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	129										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			AGGAGGGTTCCACCTACAAAA	0.448000													51	40					0	0	0.000781405	0	0
FAM160B2	64760	broad.mit.edu	37	8	21958475	21958475	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:21958475C>T	ENST00000289921.7	+	12	1654	c.1608C>T	c.(1606-1608)atC>atT	p.I536I		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	536										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						TGACCGAGATCGTCAACAGGT	0.478000													4	16					0	0	0.00024832	0	0
ISG15	9636	broad.mit.edu	37	1	949739	949739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:949739G>A	ENST00000379389.4	+	2	530	c.379G>A	c.(379-381)Gag>Aag	p.E127K		NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	127	Ubiquitin-like 2.				cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTGACCTTCGAGGGGAAGCC	0.662000													26	93					0	0	0.000720815	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180782	142180782	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:142180782G>A	ENST00000390368.2	-	0	142																											GAATTTTGGGGTCTGAGTGAC	0.527000													19	121					0	0	0.000878237	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627414	43627414	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:43627414C>G	ENST00000332857.6	-	4	1301	c.1273G>C	c.(1273-1275)Gag>Cag	p.E425Q		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		ACCAGGGACTCGCTGTGCAGA	0.498000													161	104					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179597365	179597365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:179597365C>T	ENST00000589042.1	-	56	16647	c.16423G>A	c.(16423-16425)Gga>Aga	p.G5475R	TTN_ENST00000591111.1_Missense_Mutation_p.G5158R|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G4231R|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5158	Ig-like 35.						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)			GGAGTAGATCCTTGGAAAGTG	0.463000													4	15					0	0	0.00024832	0	0
COL19A1	1310	broad.mit.edu	37	6	70890205	70890205	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:70890205G>A	ENST00000322773.4	+	43	2771	c.2667_splice	c.e43-1	p.G890_splice	COL19A1_ENST00000393344.1_Splice_Site_p.G512_splice	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	890	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCTTGCCAGGGAAAACCTGGT	0.488000													19	23					0	0	0.00121646	0	0
SLC17A2	10246	broad.mit.edu	37	6	25916919	25916919	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:25916919G>A	ENST00000377850.3	-	8	1448	c.924C>T	c.(922-924)atC>atT	p.I308I	SLC17A2_ENST00000360488.3_Silent_p.I308I|SLC17A2_ENST00000265425.3_Silent_p.I308I			O00624	NPT3_HUMAN	solute carrier family 17, member 2	308					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TCACATCTCTGATGTTAACAT	0.378000													21	68					0	0	0.00047179	0	0
ZNF486	90649	broad.mit.edu	37	19	20307999	20307999	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:20307999G>A	ENST00000335117.8	+	4	537	c.480G>A	c.(478-480)gtG>gtA	p.V160V	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						GTAAATATGTGAAAGTCTTTC	0.303000													18	85					0	0	0.00152264	0	0
IGSF3	3321	broad.mit.edu	37	1	117156446	117156446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:117156446G>A	ENST00000369486.3	-	4	1538	c.773C>T	c.(772-774)tCg>tTg	p.S258L	IGSF3_ENST00000318837.6_Missense_Mutation_p.S258L|IGSF3_ENST00000369483.1_Missense_Mutation_p.S258L	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	258	Ig-like C2-type 2.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCATACCACGACCCATCCGG	0.602000													8	44					0	0	0.000442599	0	0
FRAS1	80144	broad.mit.edu	37	4	79429917	79429917	+	Silent	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:79429917A>G	ENST00000264895.6	+	63	9977	c.9537A>G	c.(9535-9537)gaA>gaG	p.E3179E		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3174					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACCATGTGGAAGAAGTTACCA	0.522000													8	25					0	0	0.000157383	0	0
C3	718	broad.mit.edu	37	19	6707818	6707818	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:6707818C>T	ENST00000245907.6	-	15	2060	c.1968G>A	c.(1966-1968)caG>caA	p.Q656Q		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	656					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CACCTGCCCTCTGGGCGGTCT	0.672000													22	68					0	0	0.00188189	0	0
PKHD1	5314	broad.mit.edu	37	6	51923238	51923238	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:51923238C>T	ENST00000371117.3	-	16	1670	c.1395G>A	c.(1393-1395)agG>agA	p.R465R	PKHD1_ENST00000340994.4_Silent_p.R465R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	465					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCCTCATCCCCCTGCTTGGGG	0.562000													30	30					0	0	0.00283554	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151152882	151152882	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:151152882G>A	ENST00000367328.1	+	16	2947	c.2635G>A	c.(2635-2637)Gag>Aag	p.E879K	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.E879K	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	879					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GAGCACCCCTGAGCTGAGCCG	0.627000													15	23					0	0	0.00244969	0	0
MYOG	4656	broad.mit.edu	37	1	203054895	203054895	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:203054895G>A	ENST00000241651.4	-	1	269	c.195C>T	c.(193-195)tgC>tgT	p.C65C		NM_002479.4	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	65					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CCCACGGCAGGCACTGGCCTG	0.682000													25	107					0	0	0.00127121	0	0
SIN3B	23309	broad.mit.edu	37	19	16976290	16976290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:16976290C>T	ENST00000379803.1	+	12	1563	c.1549C>T	c.(1549-1551)Cgg>Tgg	p.R517W	SIN3B_ENST00000595541.1_Missense_Mutation_p.R75W|SIN3B_ENST00000248054.5_Missense_Mutation_p.R485W	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	517	Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAAGCTATCTCGGATGGCGCC	0.582000													38	45					0	0	0.00128727	0	0
LRP1B	53353	broad.mit.edu	37	2	141032145	141032145	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:141032145C>T	ENST00000389484.3	-	85	13961	c.12990G>A	c.(12988-12990)gtG>gtA	p.V4330V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4330	EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTCAGAATTCACACAATAGT	0.388000										TSP Lung(27;0.18)			6	13					0	0	0.00198382	0	0
MTRR	4552	broad.mit.edu	37	5	7897231	7897231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:7897231C>T	ENST00000264668.2	+	14	1934	c.1904C>T	c.(1903-1905)tCc>tTc	p.S635F	MTRR_ENST00000440940.2_Missense_Mutation_p.S608F	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	635					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CTAAAGGTTTCCTTCTCAAGA	0.438000													28	18					0	0	0.00106085	0	0
CA3	761	broad.mit.edu	37	8	86351982	86351982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:86351982G>A	ENST00000285381.2	+	2	159	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K		NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	26					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGCCAAGGGGGAAAACCAGTC	0.493000													19	28					0	0	0.00188189	0	0
TRIM58	25893	broad.mit.edu	37	1	248039361	248039361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:248039361G>A	ENST00000366481.3	+	6	1079	c.1031G>A	c.(1030-1032)gGg>gAg	p.G344E	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	344	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCTCATCAGGGAGGCATTAC	0.562000													14	57					0	0	0.00185496	0	0
PJA2	9867	broad.mit.edu	37	5	108673046	108673046	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:108673046G>A	ENST00000361189.2	-	10	2252	c.2013C>T	c.(2011-2013)tgC>tgT	p.C671C	PJA2_ENST00000361557.3_Silent_p.C671C	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	671	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		GGCACACAGGGCATGTTCCCG	0.448000													9	36					0	0	0.000274275	0	0
KRT32	3882	broad.mit.edu	37	17	39623483	39623483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:39623483C>T	ENST00000225899.3	-	1	198	c.95G>A	c.(94-96)cGg>cAg	p.R32Q		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	32	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CAGCTCAGGCCGGCAGTTCAC	0.632000													31	50					0	0	0.00209593	0	0
RYR1	6261	broad.mit.edu	37	19	38960045	38960045	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:38960045G>A	ENST00000355481.4	+	27	3788	c.3657G>A	c.(3655-3657)caG>caA	p.Q1219Q	RYR1_ENST00000359596.3_Silent_p.Q1219Q|RYR1_ENST00000360985.3_Silent_p.Q1219Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1219	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTGGCCTCCAGGAAGGCTTCG	0.607000													29	142					0	0	0.0024448	0	0
MYOM1	8736	broad.mit.edu	37	18	3102484	3102484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr18:3102484C>T	ENST00000400569.3	-	23	3896	c.3563G>A	c.(3562-3564)aGc>aAc	p.S1188N	MYOM1_ENST00000261606.7_Missense_Mutation_p.S1092N|MYOM1_ENST00000356443.4_Missense_Mutation_p.S1188N			P52179	MYOM1_HUMAN	myomesin 1	1188	Ig-like C2-type 3.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTTGCCCTTGCTTTCGACTTC	0.428000													53	227					0	0	0.000781405	0	0
F2RL2	2151	broad.mit.edu	37	5	75914462	75914462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:75914462C>T	ENST00000296641.4	-	2	273	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000379730.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.E2K	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	24					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		GTATCATTTTCCATGCCTGTA	0.338000													80	55					0	0	0.000781405	0	0
HYDIN	54768	broad.mit.edu	37	16	70841794	70841794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr16:70841794C>T	ENST00000393567.2	-	86	15205	c.15055G>A	c.(15055-15057)Gga>Aga	p.G5019R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5019										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGAGCCATTCCAAAGAGGGGG	0.537000													22	58					0	0	0.000586117	0	0
RPE65	6121	broad.mit.edu	37	1	68896760	68896760	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:68896760C>T	ENST00000262340.5	-	13	1491	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	480					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	p.E480Q(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TCATCTTCTTCCAAGGCATCT	0.398000													21	22					0	0	0.00188189	0	0
PTPRB	5787	broad.mit.edu	37	12	70988398	70988398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:70988398C>T	ENST00000334414.6	-	6	1409	c.1365G>A	c.(1363-1365)atG>atA	p.M455I	PTPRB_ENST00000538708.1_Missense_Mutation_p.M237I|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Missense_Mutation_p.M237I|PTPRB_ENST00000261266.5_Missense_Mutation_p.M237I|PTPRB_ENST00000551525.1_Missense_Mutation_p.M454I|PTPRB_ENST00000550857.1_Missense_Mutation_p.M237I|PTPRB_ENST00000550358.1_Missense_Mutation_p.M455I	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	237	Fibronectin type-III 5.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCCCTTTATCCATTAGCATCA	0.473000													17	41					0	0	0.000566183	0	0
TAPBPL	55080	broad.mit.edu	37	12	6562689	6562689	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:6562689C>T	ENST00000266556.7	+	3	537	c.372C>T	c.(370-372)atC>atT	p.I124I	TAPBPL_ENST00000545700.1_3'UTR|TAPBPL_ENST00000544021.1_Silent_p.I47I	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	124					antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						CCTGTGAGATCTCCCGCTACT	0.577000													31	14					0	0	0.00209593	0	0
HGSNAT	138050	broad.mit.edu	37	8	43048908	43048908	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:43048908C>T	ENST00000458501.2	+	14	1470	c.1470C>T	c.(1468-1470)taC>taT	p.Y490Y	HGSNAT_ENST00000521576.1_Silent_p.Y179Y|HGSNAT_ENST00000379644.4_Silent_p.Y462Y|HGSNAT_ENST00000297798.7_Silent_p.Y194Y			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	490					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGGTACTTTACCACACCGAGG	0.463000													17	29					0	0	0.000958276	0	0
KCNH5	27133	broad.mit.edu	37	14	63447746	63447746	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:63447746G>A	ENST00000322893.7	-	6	1054	c.786C>T	c.(784-786)atC>atT	p.I262I	KCNH5_ENST00000420622.2_Silent_p.I262I|KCNH5_ENST00000394968.1_Silent_p.I204I|KCNH5_ENST00000394964.2_Silent_p.I204I	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	262					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AATTTAAAACGATGTCAACCA	0.423000													15	50					0	0	0.000308642	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8431165	8431165	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:8431165A>T	ENST00000301455.2	+	3	680	c.509A>T	c.(508-510)cAg>cTg	p.Q170L	ANGPTL4_ENST00000541807.1_Missense_Mutation_p.Q3L|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.Q170L	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	170					angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						GAGATGGCCCAGCCAGTTGAC	0.642000													30	26					0	0	0.00178596	0	0
GBP1	2633	broad.mit.edu	37	1	89520398	89520398	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:89520398T>G	ENST00000370473.4	-	10	1851	c.1632A>C	c.(1630-1632)aaA>aaC	p.K544N	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	544					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TCTCTTGCTCTTTCAGCAACT	0.443000													66	489					0	0	0.000781405	0	0
SLC5A4	6527	broad.mit.edu	37	22	32631072	32631072	+	Missense_Mutation	SNP	C	C	T	rs140177779		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:32631072C>T	ENST00000266086.4	-	8	684	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	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	225					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						CCTCCAACTTCGTTAAATGCT	0.428000													84	43					0	0	0.000781405	0	0
NRXN3	9369	broad.mit.edu	37	14	79181202	79181202	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:79181202C>T	ENST00000554719.1	+	5	1136	c.645C>T	c.(643-645)aaC>aaT	p.N215N	NRXN3_ENST00000335750.5_Silent_p.N215N	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	221	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGCCGGAGAACCGTGCTGGCC	0.592000													38	22					0	0	0.000692331	0	0
POU2F1	5451	broad.mit.edu	37	1	167385027	167385027	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:167385027A>G	ENST00000367862.5	+	16	2483	c.2248A>G	c.(2248-2250)Acc>Gcc	p.T750A	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000429375.2_Missense_Mutation_p.T698A|POU2F1_ENST00000541643.3_Missense_Mutation_p.T738A|POU2F1_ENST00000367866.2_Missense_Mutation_p.T761A	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	738					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CACCACCACCACCGCCTCCAA	0.582000													5	172					0	0	0.000602214	0	0
LRP1	4035	broad.mit.edu	37	12	57594821	57594821	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:57594821C>T	ENST00000243077.3	+	65	10696	c.10230C>T	c.(10228-10230)atC>atT	p.I3410I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3410	LDL-receptor class A 22.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCACAGACATCCACGTCTGCT	0.612000													26	59					0	0	0.00106085	0	0
RNF220	55182	broad.mit.edu	37	1	44878091	44878091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:44878091C>T	ENST00000355387.2	+	2	772	c.322C>T	c.(322-324)Cca>Tca	p.P108S	RNF220_ENST00000372247.2_Missense_Mutation_p.P108S|RNF220_ENST00000361799.2_Missense_Mutation_p.P108S			Q5VTB9	RN220_HUMAN	ring finger protein 220	108					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AGATTGCACCCCAATCAGTAT	0.567000													45	119					0	0	0.0025221	0	0
KDM5B	10765	broad.mit.edu	37	1	202724528	202724528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:202724528G>A	ENST00000367265.3	-	11	2573	c.1409C>T	c.(1408-1410)tCt>tTt	p.S470F	KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Missense_Mutation_p.S506F	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	470	JmjC.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TGCAAGGACAGACTGCTCCAT	0.393000													37	215					0	0	0.00170553	0	0
RIN3	79890	broad.mit.edu	37	14	93154591	93154591	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:93154591C>T	ENST00000216487.7	+	10	3111	c.2952C>T	c.(2950-2952)ttC>ttT	p.F984F	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	984					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGCCCAACTTCCTGTGAGGCC	0.751000													11	5					0	0	0.000978159	0	0
MYH8	4626	broad.mit.edu	37	17	10300146	10300146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:10300146C>T	ENST00000403437.2	-	31	4430	c.4336G>A	c.(4336-4338)Gat>Aat	p.D1446N	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1446					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGCTTCTTATCAAGGGCTGCA	0.448000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				31	32					0	0	0.0024448	0	0
ITGA1	3672	broad.mit.edu	37	5	52161619	52161619	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:52161619G>A	ENST00000282588.6	+	6	1050	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	198	VWFA.			E -> K (in Ref. 3).	axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TGACCTTCTTGAAAGAATGGA	0.358000													36	21					0	0	0.00058488	0	0
FOXP1	27086	broad.mit.edu	37	3	71026984	71026984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:71026984G>A	ENST00000318789.4	-	15	1868	c.1343C>T	c.(1342-1344)tCg>tTg	p.S448L	FOXP1_ENST00000493089.1_Missense_Mutation_p.S448L|FOXP1_ENST00000498215.1_Missense_Mutation_p.S448L|FOXP1_ENST00000468577.1_Missense_Mutation_p.S448L|FOXP1_ENST00000484350.1_Missense_Mutation_p.S372L|FOXP1_ENST00000491238.1_Missense_Mutation_p.S450L|FOXP1_ENST00000475937.1_Missense_Mutation_p.S448L	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	448					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)		TCTACCTGACGAAATGGGCAC	0.488000			T	PAX5	ALL								31	83					0	0	0.00209593	0	0
SCAND3	114821	broad.mit.edu	37	6	28542725	28542725	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:28542725G>A	ENST00000452236.2	-	3	2374	c.1757C>T	c.(1756-1758)cCt>cTt	p.P586L		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	586					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AGCCACCTTAGGAGTGACAGA	0.373000													9	18					0	0	0.000274275	0	0
TRGC1	6966	broad.mit.edu	37	7	38305208	38305208	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:38305208G>A	ENST00000443402.2	-	0	71					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					CCAGCCTTCTGGAGCTTTGTT	0.383000													91	319					0	0	0.000781405	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21940136	21940136	+	Silent	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:21940136A>C	ENST00000542643.2	-	10	761	c.459T>G	c.(457-459)gtT>gtG	p.V153V	RAP1GAP_ENST00000374765.4_Silent_p.V153V|RAP1GAP_ENST00000374763.2_Silent_p.V153V|RAP1GAP_ENST00000374761.2_Silent_p.V184V|RAP1GAP_ENST00000290101.4_Silent_p.V217V|RAP1GAP_ENST00000374757.3_5'UTR	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	153					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CCATCTGGACAACATTAGGGA	0.602000													29	126					0	0	0.00209593	0	0
LTBP2	4053	broad.mit.edu	37	14	74978063	74978063	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:74978063G>A	ENST00000261978.4	-	19	3299	c.2913C>T	c.(2911-2913)atC>atT	p.I971I	LTBP2_ENST00000556690.1_Silent_p.I971I	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	971	Cys-rich.|EGF-like 7; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCATTCGTTGATATCTGCAA	0.572000													25	72					0	0	0.001512	0	0
THSD4	79875	broad.mit.edu	37	15	72021046	72021046	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:72021046G>A	ENST00000355327.3	+	9	1650	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.E506K|THSD4_ENST00000357769.4_Missense_Mutation_p.E146K			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	506						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCCCACCAACGAGATCTTGGA	0.458000													32	89					0	0	0.00283554	0	0
CR1	1378	broad.mit.edu	37	1	207741198	207741198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:207741198C>T	ENST00000367049.4	+	25	3982	c.3982C>T	c.(3982-3984)Cct>Tct	p.P1328S	CR1_ENST00000400960.2_Missense_Mutation_p.P878S|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.P878S|CR1_ENST00000367051.1_Missense_Mutation_p.P878S|CR1_ENST00000367052.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	878	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCCAGTTATTCCTAATGGGAG	0.443000													47	104					0	0	0.000781405	0	0
EEFSEC	60678	broad.mit.edu	37	3	128060384	128060384	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:128060384C>T	ENST00000254730.6	+	5	1149	c.1095C>T	c.(1093-1095)gaC>gaT	p.D365D	EEFSEC_ENST00000483457.1_Silent_p.D310D|EEFSEC_ENST00000483569.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	365						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CTATACTGGACTCTTTCAACT	0.493000													20	39					0	0	0.000958276	0	0
SMOC1	64093	broad.mit.edu	37	14	70461188	70461188	+	Silent	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:70461188A>C	ENST00000381280.4	+	7	908	c.655A>C	c.(655-657)Aga>Cga	p.R219R	SMOC1_ENST00000361956.3_Silent_p.R219R	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	219					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CACCAACATAAGAAATTCAGG	0.413000													43	118					0	0	0.00195071	0	0
MYH6	4624	broad.mit.edu	37	14	23855828	23855828	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:23855828G>A	ENST00000405093.3	-	33	4725	c.4655C>T	c.(4654-4656)tCc>tTc	p.S1552F	MYH6_ENST00000356287.3_Missense_Mutation_p.S1552F	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1552					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GTGCTCCAGGGAGGCCTGGGA	0.632000													24	63					0	0	0.00229938	0	0
ITGB2	3689	broad.mit.edu	37	21	46313378	46313378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:46313378C>T	ENST00000397850.2	-	11	1617	c.1165G>A	c.(1165-1167)Gga>Aga	p.G389R	ITGB2_ENST00000397854.3_Missense_Mutation_p.G332R|ITGB2_ENST00000355153.4_Missense_Mutation_p.G389R|ITGB2_ENST00000302347.5_Missense_Mutation_p.G389R|ITGB2_ENST00000397852.1_Missense_Mutation_p.G389R|ITGB2_ENST00000397857.1_Missense_Mutation_p.G389R			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	389					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TGCGTCACTCCATTGCTGCAG	0.602000											OREG0026255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	82					0	0	0.000814825	0	0
PID1	55022	broad.mit.edu	37	2	229890776	229890776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:229890776C>T	ENST00000392054.3	-	4	658	c.319G>A	c.(319-321)Ggc>Agc	p.G107S	PID1_ENST00000354069.6_Missense_Mutation_p.G109S|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Missense_Mutation_p.G76S|PID1_ENST00000409462.1_Missense_Mutation_p.G27S	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	109	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TCTGTGCAGCCTGACAAAAAC	0.532000													24	62					0	0	0.000720815	0	0
GJA8	2703	broad.mit.edu	37	1	147381047	147381047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:147381047C>T	ENST00000240986.4	+	2	1018	c.965C>T	c.(964-966)tCc>tTc	p.S322F	GJA8_ENST00000369235.1_Missense_Mutation_p.S322F	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	322					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					ACACTGCCTTCCTACGCTCAG	0.627000													5	37					0	0	0.00116845	0	0
MLLT6	4302	broad.mit.edu	37	17	36873834	36873834	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:36873834C>T	ENST00000325718.7	+	11	1892	c.1801C>T	c.(1801-1803)Ccc>Tcc	p.P601S	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	601					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CAGCACCCTCCCCTCCTCTTC	0.682000			T	MLL	AL								9	44					0	0	0.00136819	0	0
CPAMD8	27151	broad.mit.edu	37	19	17038926	17038926	+	Missense_Mutation	SNP	C	C	T	rs61742969		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:17038926C>T	ENST00000443236.1	-	25	3435	c.3404G>A	c.(3403-3405)cGa>cAa	p.R1135Q		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1088						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCTCCAGATTCGGAATTCACC	0.627000													40	56					0	0	0.00222228	0	0
PCNT	5116	broad.mit.edu	37	21	47831640	47831640	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr21:47831640G>A	ENST00000359568.5	+	28	5760	c.5653G>A	c.(5653-5655)Gcg>Acg	p.A1885T	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1885					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCAGCGGAAGGCGGCCCACTC	0.667000													9	40					0	0	0.000673444	0	0
MAN2B1	4125	broad.mit.edu	37	19	12769085	12769085	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:12769085G>A	ENST00000456935.2	-	9	1223	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	MAN2B1_ENST00000221363.4_Missense_Mutation_p.R394W|MAN2B1_ENST00000495617.1_Intron	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	395					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGGGCCGGCCGACTGGAAAAG	0.632000													27	38					0	0	0.00178596	0	0
DGKG	1608	broad.mit.edu	37	3	186015231	186015231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:186015231C>T	ENST00000265022.3	-	5	891	c.352G>A	c.(352-354)Gag>Aag	p.E118K	DGKG_ENST00000544847.1_Missense_Mutation_p.E118K|DGKG_ENST00000344484.4_Missense_Mutation_p.E118K|DGKG_ENST00000382164.4_Missense_Mutation_p.E118K	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	118					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GCACAGGCCTCGTCTGCTTTG	0.448000													32	75					0	0	0.00111076	0	0
SLFN13	146857	broad.mit.edu	37	17	33772623	33772623	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:33772623A>C	ENST00000285013.6	-	3	352	c.77T>G	c.(76-78)cTg>cGg	p.L26R	SLFN13_ENST00000533791.1_Missense_Mutation_p.L26R|SLFN13_ENST00000526861.1_Missense_Mutation_p.L26R|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000542635.1_Missense_Mutation_p.L26R|SLFN13_ENST00000360502.2_Intron	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	26						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTCTTCTCCCAGAGTCACTTC	0.473000													39	27					0	0	0.00170553	0	0
REN	5972	broad.mit.edu	37	1	204128574	204128574	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:204128574G>A	ENST00000367195.2	-	5	685	c.642C>T	c.(640-642)atC>atT	p.I214I	REN_ENST00000272190.8_Silent_p.I214I			P00797	RENI_HUMAN	renin	214					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CCCCTTGGGAGATGATGTTGT	0.562000													17	79					0	0	0.00121646	0	0
BARX2	8538	broad.mit.edu	37	11	129306851	129306851	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:129306851G>A	ENST00000281437.4	+	2	489	c.393G>A	c.(391-393)aaG>aaA	p.K131K	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	131										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CCCGACAGAAGAAGCCCCGCC	0.632000													7	6					0	0	0.00198382	0	0
STEAP4	79689	broad.mit.edu	37	7	87910343	87910343	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:87910343C>T	ENST00000380079.4	-	4	1137	c.1036G>A	c.(1036-1038)Gat>Aat	p.D346N	AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.D170N|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	346	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					ACATATGAATCACTGAGCCAG	0.378000													10	32					0	0	0.000442599	0	0
CACNA1E	777	broad.mit.edu	37	1	181549846	181549846	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:181549846C>T	ENST00000526775.1	+	6	1050	c.885C>T	c.(883-885)atC>atT	p.I295I	CACNA1E_ENST00000357570.5_Silent_p.I246I|CACNA1E_ENST00000367570.1_Silent_p.I295I|CACNA1E_ENST00000360108.3_Silent_p.I295I|CACNA1E_ENST00000367573.2_Silent_p.I295I|CACNA1E_ENST00000358338.5_Silent_p.I246I|CACNA1E_ENST00000367567.4_5'UTR	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	295					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.I295I(2)		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						TTGATAACATCCTTTTTGCTG	0.547000													20	72					0	0	0.000958276	0	0
CD207	50489	broad.mit.edu	37	2	71061152	71061152	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:71061152C>T	ENST00000410009.3	-	3	236		c.e3-1			NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin						defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						AACCGGGGATCTGGGATTGAG	0.498000													5	12					0	0	0.00116845	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130215884	130215884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:130215884C>T	ENST00000276211.5	+	2	590	c.245C>T	c.(244-246)cCt>cTt	p.P82L	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.P70L	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	82					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GAATTCAAACCTGACAGAGGT	0.582000													59	3					0	0	0.000781405	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64666919	64666919	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:64666919G>A	ENST00000498707.1	-	3	979	c.637C>T	c.(637-639)Cag>Tag	p.Q213*	ADAMTS9_ENST00000459780.1_Nonsense_Mutation_p.Q213*|ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.Q213*	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	213					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGCTCTCTCTGGGGGGCGCTG	0.458000													109	424					0	0	0.000781405	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766066	77766066	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:77766066G>A	ENST00000521891.2	+	10	7357	c.6909G>A	c.(6907-6909)cgG>cgA	p.R2303R	ZFHX4_ENST00000518282.1_Silent_p.R2277R|ZFHX4_ENST00000050961.6_Silent_p.R2258R|ZFHX4_ENST00000455469.2_Silent_p.R2258R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2258						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTAATGAACGGTACATTCGAA	0.383000										HNSCC(33;0.089)			31	21					0	0	0.00127121	0	0
SOWAHB	345079	broad.mit.edu	37	4	77816833	77816833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:77816833C>T	ENST00000334306.2	-	1	2169	c.2170G>A	c.(2170-2172)Gga>Aga	p.G724R		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	724																	CGAGGAGCTCCCAACAGCTGC	0.502000													89	159					0	0	0.000781405	0	0
TP63	8626	broad.mit.edu	37	3	189587175	189587175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:189587175G>A	ENST00000264731.3	+	9	1281	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	TP63_ENST00000392461.3_Missense_Mutation_p.D304N|TP63_ENST00000418709.2_Missense_Mutation_p.D398N|TP63_ENST00000437221.1_Missense_Mutation_p.D304N|TP63_ENST00000449992.1_Missense_Mutation_p.D219N|TP63_ENST00000354600.5_Missense_Mutation_p.D304N|TP63_ENST00000382063.4_Missense_Mutation_p.D313N|TP63_ENST00000392463.2_Missense_Mutation_p.D304N|TP63_ENST00000320472.5_Missense_Mutation_p.D398N|TP63_ENST00000392460.3_Missense_Mutation_p.D398N|TP63_ENST00000456148.1_Missense_Mutation_p.D300N|TP63_ENST00000440651.2_Missense_Mutation_p.D394N	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	398	Oligomerization.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ATCCCCAGATGATGAACTGTT	0.418000										HNSCC(45;0.13)			14	18					0	0	0.000308642	0	0
HMG20B	10362	broad.mit.edu	37	19	3574509	3574509	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:3574509C>T	ENST00000333651.6	+	4	351	c.276C>T	c.(274-276)caC>caT	p.H92H		NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	92					blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACGCGCCACCCGGATCTGC	0.667000													7	5					0	0	0.000442599	0	0
MYLK4	340156	broad.mit.edu	37	6	2683260	2683260	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:2683260G>A	ENST00000274643.7	-	7	1024	c.682C>T	c.(682-684)Ctg>Ttg	p.L228L	MYLK4_ENST00000268446.5_Silent_p.L228L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	228	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				CTTACCTTCAGGTCCAAGTGG	0.478000													30	98					0	0	0.00209593	0	0
MTMR11	10903	broad.mit.edu	37	1	149905813	149905813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:149905813G>A	ENST00000439741.2	-	8	956	c.706C>T	c.(706-708)Cct>Tct	p.P236S	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Missense_Mutation_p.P208S|MTMR11_ENST00000369140.3_Missense_Mutation_p.P164S|MTMR11_ENST00000361405.6_Intron	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	236	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ATTCGGTTAGGGACCCAGAAG	0.478000													55	79					0	0	0.000781405	0	0
TUB	7275	broad.mit.edu	37	11	8118838	8118838	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:8118838C>T	ENST00000305253.4	+	8	1157	c.916C>T	c.(916-918)Ctt>Ttt	p.L306F	TUB_ENST00000299506.2_Missense_Mutation_p.L251F|TUB_ENST00000534099.1_Missense_Mutation_p.L257F	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	251					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGTCCAGGATCTTGAGGAGTT	0.597000													22	30					0	0	0.00188189	0	0
ADCY10	55811	broad.mit.edu	37	1	167779004	167779004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:167779004C>T	ENST00000367848.1	-	33	4965	c.4468G>A	c.(4468-4470)Gaa>Aaa	p.E1490K	ADCY10_ENST00000545172.1_Missense_Mutation_p.E1429K|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.E1582K			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1582					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACAATTTTTTCCCATGATGGG	0.388000													71	46					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9062912	9062912	+	Silent	SNP	A	A	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:9062912A>C	ENST00000397910.4	-	3	24737	c.24534T>G	c.(24532-24534)acT>acG	p.T8178T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8180	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTCTGTGGAAGTCTCTGGTG	0.507000													11	40					0	0	0.00244969	0	0
SLC44A1	23446	broad.mit.edu	37	9	108127850	108127850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr9:108127850C>T	ENST00000374720.3	+	11	1587	c.1340C>T	c.(1339-1341)tCt>tTt	p.S447F	SLC44A1_ENST00000374723.1_Missense_Mutation_p.S447F|SLC44A1_ENST00000374724.1_Missense_Mutation_p.S447F|SLC44A1_ENST00000343170.7_Missense_Mutation_p.S239F	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	447						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GCAAAAGGATCTTTCATTATC	0.363000													23	79					0	0	0.00229938	0	0
IQCH	64799	broad.mit.edu	37	15	67571772	67571772	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:67571772C>T	ENST00000335894.4	+	4	375	c.309C>T	c.(307-309)ttC>ttT	p.F103F	IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000512104.1_Silent_p.F103F|IQCH_ENST00000358767.3_5'UTR	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	103										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)		CATTTATTTTCCCTCAGGAAT	0.343000													30	12					0	0	0.000814825	0	0
STK11IP	114790	broad.mit.edu	37	2	220479232	220479232	+	Missense_Mutation	SNP	C	C	T	rs138069010	by1000genomes	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr2:220479232C>T	ENST00000456909.1	+	23	2923	c.2833C>T	c.(2833-2835)Cgc>Tgc	p.R945C	STK11IP_ENST00000295641.10_Missense_Mutation_p.R956C			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	956					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGGAGGCTCGCCAGTTCTT	0.557000													19	49					0	0	0.00047179	0	0
KRT25	147183	broad.mit.edu	37	17	38911301	38911301	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:38911301G>A	ENST00000312150.4	-	1	283	c.223C>T	c.(223-225)Ctt>Ttt	p.L75F		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	75	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTGCCAGAAAGGAGCCCCCGC	0.577000													38	65					0	0	0.00170553	0	0
GLB1L2	89944	broad.mit.edu	37	11	134228965	134228965	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr11:134228965C>T	ENST00000535456.2	+	7	851	c.663C>T	c.(661-663)gaC>gaT	p.D221D	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Silent_p.D221D|GLB1L2_ENST00000339772.7_Silent_p.D221D	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	221					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CACTGGAGGACCGTGGCATTG	0.582000													26	43					0	0	0.00127121	0	0
TRAJ42	28713	broad.mit.edu	37	14	22965907	22965907	+	RNA	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:22965907G>A	ENST00000390495.1	+	0	36																											TCTCATCTTTGGAAAAGGCAC	0.433000													34	78					0	0	0.00222228	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87163713	87163713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:87163713G>A	ENST00000285393.3	+	7	977	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	279					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						ACCTTTATTTGAAGCTGTAGG	0.299000													8	24					0	0	0.000673444	0	0
MYO18B	84700	broad.mit.edu	37	22	26270358	26270358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:26270358C>T	ENST00000335473.7	+	23	4307	c.4057C>T	c.(4057-4059)Cgc>Tgc	p.R1353C	MYO18B_ENST00000407587.2_Missense_Mutation_p.R1354C|MYO18B_ENST00000536101.1_Missense_Mutation_p.R1353C	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1353	IQ.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTTTCTGTCTCGCCAGGAATT	0.547000													16	63					0	0	0.000308642	0	0
TINAG	27283	broad.mit.edu	37	6	54254608	54254608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr6:54254608G>A	ENST00000259782.4	+	11	1412	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	439					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AATTCCTGGGGAAAGTCATGG	0.393000													23	25					0	0	0.001512	0	0
PDE6C	5146	broad.mit.edu	37	10	95422929	95422929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr10:95422929G>A	ENST00000371447.3	+	21	2650	c.2512G>A	c.(2512-2514)Gaa>Aaa	p.E838K	PDE6C_ENST00000475427.2_Intron	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	838					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.E838K(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AGGAGGAGCCGAAAAAGGTTA	0.428000													9	10					0	0	0.000442599	0	0
KMT2C	58508	broad.mit.edu	37	7	151884350	151884350	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:151884350G>A	ENST00000355193.2	-	33	5223	c.5005C>T	c.(5005-5007)Cct>Tct	p.P1669S	KMT2C_ENST00000262189.6_Missense_Mutation_p.P1669S					lysine (K)-specific methyltransferase 2C																		GGCTTACCAGGGAATTCTTCC	0.368000													14	78					0	0	0.000422831	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374907	8374907	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:8374907C>T	ENST00000538603.1	-	7	1464	c.906G>A	c.(904-906)ctG>ctA	p.L302L	FAM90A1_ENST00000307435.6_Silent_p.L302L	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	302							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TGGGGAAGTTCAGGCAAGCCT	0.642000													9	69					0	0	0.000673444	0	0
GPR27	2850	broad.mit.edu	37	3	71804034	71804034	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:71804034G>A	ENST00000304411.2	+	1	834	c.834G>A	c.(832-834)acG>acA	p.T278T		NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	278						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		AATTCAAGACGGAGAAGAGGC	0.716000													12	25					0	0	0.000978159	0	0
MTOR	2475	broad.mit.edu	37	1	11190724	11190724	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:11190724G>A	ENST00000361445.4	-	39	5551	c.5475C>T	c.(5473-5475)atC>atT	p.I1825I	MTOR_ENST00000376838.1_Silent_p.I30I	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1825	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						tggcgttggtgatgttggCCC	0.607000													5	23					0	0	0.000602214	0	0
S100A3	6274	broad.mit.edu	37	1	153520175	153520175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:153520175G>A	ENST00000368713.3	-	3	485	c.289C>T	c.(289-291)Ccc>Tcc	p.P97S	S100A3_ENST00000368712.1_Missense_Mutation_p.P97S|S100A4_ENST00000368714.1_Intron	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	97							calcium ion binding|protein binding			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCAGGGGGGCTCTGAGGGG	0.622000													37	73					0	0	0.00195071	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962038	10962038	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:10962038G>A	ENST00000240691.2	-	1	729	c.637C>T	c.(637-639)Cga>Tga	p.R213*		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	213					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCATGCAGTCGAATCTGCTTG	0.488000													12	2					0	0	0.000978159	0	0
KCNK15	60598	broad.mit.edu	37	20	43379280	43379280	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:43379280C>A	ENST00000372861.3	+	2	925	c.794C>A	c.(793-795)cCc>cAc	p.P265H		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	265						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				Agcccgcgccccccgggggcg	0.751000													12	5					4.3838e-07	1.61143e-06	0.00185496	1	0
SEMA6C	10500	broad.mit.edu	37	1	151110192	151110192	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:151110192C>T	ENST00000341697.3	-	10	2442	c.751G>A	c.(751-753)Ggg>Agg	p.G251R				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	251	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTACCCTCCCCAGCCGAGCA	0.572000													41	92					0	0	0.000781405	0	0
TRAV30	28652	broad.mit.edu	37	14	22636363	22636363	+	RNA	SNP	G	G	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:22636363G>T	ENST00000557168.1	+	0	39																											GCACCTTGTTGTGGCAGTTGA	0.473000													48	122					3.85841e-42	1.43334e-41	0.000781405	1	0
SLC6A19	340024	broad.mit.edu	37	5	1216766	1216766	+	Silent	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr5:1216766C>T	ENST00000304460.10	+	7	1037	c.981C>T	c.(979-981)ttC>ttT	p.F327F		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	327					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCATTGGGTTCCGCGCCACAC	0.597000													16	29					0	0	0.000308642	0	0
PRG4	10216	broad.mit.edu	37	1	186266007	186266007	+	Translation_Start_Site	SNP	G	G	A	rs149511072		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:186266007G>A	ENST00000445192.2	+	0	45				PRG4_ENST00000367486.3_De_novo_Start_InFrame|PRG4_ENST00000367484.3_De_novo_Start_InFrame|PRG4_ENST00000367483.4_De_novo_Start_InFrame|PRG4_ENST00000367485.4_De_novo_Start_InFrame	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4						cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGAAAACAACGATGGCATGGA	0.393000													25	22					0	0	0.00047179	0	0
ANKRD24	170961	broad.mit.edu	37	19	4222714	4222714	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:4222714G>A	ENST00000600132.1	+	20	3495	c.3219G>A	c.(3217-3219)aaG>aaA	p.K1073K	ANKRD24_ENST00000318934.4_Silent_p.K1073K|ANKRD24_ENST00000262970.5_Silent_p.K1163K	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1073										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AAGCCTTGAAGGAGCAGCCGG	0.597000													12	16					0	0	0.000978159	0	0
ITLN1	55600	broad.mit.edu	37	1	160854650	160854650	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:160854650G>A	ENST00000326245.3	-	2	133	c.18C>T	c.(16-18)ttC>ttT	p.F6F		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	6					positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GAAACAGCAGGAAGCTGAGTT	0.507000													38	199					0	0	0.00170553	0	0
MECP2	4204	broad.mit.edu	37	X	153296706	153296706	+	Missense_Mutation	SNP	G	G	A	rs61749710		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:153296706G>A	ENST00000407218.1	-	5	649	c.464C>T	c.(463-465)cCa>cTa	p.P155L	MECP2_ENST00000303391.6_Silent_p.P191P|MECP2_ENST00000453960.2_Silent_p.P203P			P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	72	MBD.		F -> I (in RTT).|F -> S (in RTT; dbSNP:rs28934905).		negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTCCCTTTGGGGCGTCCCC	0.617000													86	2					0	0	0.000781405	0	0
COL24A1	255631	broad.mit.edu	37	1	86557993	86557993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:86557993C>T	ENST00000370571.2	-	6	1976	c.1610G>A	c.(1609-1611)gGa>gAa	p.G537E	COL24A1_ENST00000436319.1_Missense_Mutation_p.G537E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	537	Collagen-like 1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCTGGATCTCCTTTGGGGCC	0.313000													12	49					0	0	0.00152264	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45258223	45258223	+	Silent	SNP	G	G	A			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr22:45258223G>A	ENST00000352766.7	+	17	1680	c.1680G>A	c.(1678-1680)ttG>ttA	p.L560L	ARHGAP8_ENST00000336963.4_3'UTR|ARHGAP8_ENST00000389774.2_Silent_p.L381L|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.L481L|ARHGAP8_ENST00000356099.6_Silent_p.L350L|ARHGAP8_ENST00000389773.5_Silent_p.L472L|ARHGAP8_ENST00000517296.3_Silent_p.L560L																breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						GGCTGAATTTGATCTGGCCAT	0.522000													67	33					0	0	0.000781405	0	0
CDCP2	200008	broad.mit.edu	37	1	54610386	54610386	+	Silent	SNP	G	G	A	rs150004831		TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:54610386G>A	ENST00000371330.1	-	2	1027	c.180C>T	c.(178-180)atC>atT	p.I60I	RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	60	CUB 1.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CGGCCACCACGATCAGCCAGC	0.557000													22	22					0	0	0.00188189	0	0
DHX9	1660	broad.mit.edu	37	1	182845333	182845333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:182845333delT	ENST00000367549.3	+	17	2074	c.1964delT	c.(1963-1965)gtfs	p.V655fs		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	655	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCTGTGTTGGTTTTTTTGCCT	0.378													7	243	---	---	---	---					
PTPN14	5784	broad.mit.edu	37	1	214557011	214557019	+	In_Frame_Del	DEL	CTCCCGGAG	CTCCCGGAG	-	rs143375730	byFrequency	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:214557011_214557019delCTCCCGGAG	ENST00000366956.5	-	13	2373_2381	c.2179_2187delCTCCGGGAG	c.(2179-2187)del	p.LRE727del	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	727					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ACTCCATCTTCTCCCGGAGCATGGGGATC	0.617													9	67	---	---	---	---					
PCNXL2	80003	broad.mit.edu	37	1	233121997	233121997	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr1:233121997delG	ENST00000258229.8	-	33	6315	c.6081delC	c.(6079-6081)tcfs	p.S2027fs	PCNXL2_ENST00000344698.2_Frame_Shift_Del_p.S679fs	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	2027	Ser-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGCTCAGGGTGGAGCTGGTGG	0.652													2	4	---	---	---	---					
RFTN1	23180	broad.mit.edu	37	3	16419362	16419362	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr3:16419362delT	ENST00000334133.4	-	5	961	c.689delA	c.(688-690)ggfs	p.E230fs	RFTN1_ENST00000432519.1_Frame_Shift_Del_p.E194fs	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	230						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GAGGGGCACCTCCCCTCTGGG	0.637													23	22	---	---	---	---					
NMU	10874	broad.mit.edu	37	4	56465332	56465337	+	In_Frame_Del	DEL	CTTCTT	CTTCTT	-			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr4:56465332_56465337delCTTCTT	ENST00000264218.3	-	9	606_611	c.501_506delAAGAAG	c.(499-507)ggg>gg	p.GRR167del	NMU_ENST00000511469.1_In_Frame_Del_p.GRR151del|NMU_ENST00000505262.1_In_Frame_Del_p.GRR140del|NMU_ENST00000515325.1_5'UTR|NMU_ENST00000507338.1_In_Frame_Del_p.GRR142del	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	167					neuropeptide signaling pathway	extracellular region				lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		CCCTGCTGACCTTCTTCCATTCCGTG	0.306													7	27	---	---	---	---					
PCLO	27445	broad.mit.edu	37	7	82545344	82545344	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr7:82545344delA	ENST00000423517.2	-	7	12295	c.11958delT	c.(11956-11958)ctfs	p.L3986fs	PCLO_ENST00000437081.1_Frame_Shift_Del_p.L706fs|PCLO_ENST00000333891.8_Frame_Shift_Del_p.L3986fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3917					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						GTGCTATCATAAGGGGTTGGT	0.398													80	175	---	---	---	---					
RGS20	8601	broad.mit.edu	37	8	54793609	54793610	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr8:54793609_54793610insC	ENST00000276500.4	+	1	156_157	c.34_35insC	c.(34-36)ttcfs	p.F12fs	RGS20_ENST00000522225.1_5'UTR|RGS20_ENST00000297313.3_Intron|RGS20_ENST00000344277.6_Intron	NM_003702.3	NP_003693.2	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	159					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GCCGGCCGGGGCTTCCTCCCCG	0.678													10	32	---	---	---	---					
CACNA2D4	93589	broad.mit.edu	37	12	1995401	1995401	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr12:1995401delA	ENST00000382722.5	-	8	1343	c.981delT	c.(979-981)atfs	p.I327fs	CACNA2D4_ENST00000586184.1_Frame_Shift_Del_p.I327fs|CACNA2D4_ENST00000587995.1_Frame_Shift_Del_p.I327fs|CACNA2D4_ENST00000588077.1_Frame_Shift_Del_p.I263fs|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Frame_Shift_Del_p.I263fs	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	327	VWFA.		I -> V (in dbSNP:rs10735005).			integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CTATGATATTAATGAAGTCAT	0.493													31	29	---	---	---	---					
IGHG4	3503	broad.mit.edu	37	14	106090958	106090967	+	RNA	DEL	GAGTCCAGCA	GAGTCCAGCA	-			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr14:106090958_106090967delGAGTCCAGCA	ENST00000390543.2	-	0	829_838																											GGAGCCGTCGGAGTCCAGCACGGGAGGCGT	0.605													10	462	---	---	---	---					
FBN1	2200	broad.mit.edu	37	15	48797337	48797339	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr15:48797337_48797339delGTT	ENST00000316623.5	-	16	2298_2300	c.1843_1845delAAC	c.(1843-1845)del	p.N615del		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	615	EGF-like 10; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTCACACTCGTTAATGTCTGTG	0.424													11	32	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578384	7578401	+	In_Frame_Del	DEL	GCAGCGCTCATGGTGGGG	GCAGCGCTCATGGTGGGG	-	rs68130327	by1000genomes	TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr17:7578384_7578401delGCAGCGCTCATGGTGGGG	ENST00000420246.2	-	5	661_678	c.529_546delCCCCACCATGAGCGCTGC	c.(529-546)del	p.PHHERC177del	TP53_ENST00000269305.4_In_Frame_Del_p.PHHERC177del|TP53_ENST00000359597.4_In_Frame_Del_p.PHHERC177del|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_In_Frame_Del_p.PHHERC177del|TP53_ENST00000445888.2_In_Frame_Del_p.PHHERC177del|TP53_ENST00000455263.2_In_Frame_Del_p.PHHERC177del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	177	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179Y(98)|p.H179L(43)|p.H179Q(23)|p.R181H(21)|p.R181C(19)|p.P177R(18)|p.P177L(17)|p.H178fs*69(16)|p.H179N(16)|p.E180*(14)|p.R181P(14)|p.H179D(13)|p.P177P(10)|p.P177_C182delPHHERC(8)|p.C182S(8)|p.P177S(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.E180D(6)|p.H47Y(6)|p.H178P(6)|p.H86Y(6)|p.E180K(5)|p.H178fs*3(5)|p.H178Q(5)|p.C182*(5)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.P177H(3)|p.H178N(3)|p.R175_E180delRCPHHE(3)|p.R181L(3)|p.R174fs*24(3)|p.H179fs*68(2)|p.H179H(2)|p.H47Q(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.P177fs*3(2)|p.C182R(2)|p.C182Y(2)|p.C182C(2)|p.R49C(2)|p.R88C(2)|p.H86R(2)|p.H86Q(2)|p.H85fs*69(2)|p.R181R(2)|p.H46fs*>45(2)|p.V173fs*59(2)|p.V173fs*69(1)|p.E180G(1)|p.E180fs*67(1)|p.E180Q(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.H178fs*6(1)|p.H47D(1)|p.R174fs*3(1)|p.H47N(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H178L(1)|p.E171fs*1(1)|p.H179del(1)|p.P177fs*4(1)|p.H168fs*69(1)|p.E180>DGRCPHQ(1)|p.H178del(1)|p.E48D(1)|p.E180_S183del(1)|p.P177T(1)|p.R49P(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R175_H178>X(1)|p.C176_P177delCP(1)|p.P177fs*69(1)|p.R42fs*24(1)|p.R88P(1)|p.C182fs*4(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.C182fs*65(1)|p.E87D(1)|p.H85_S90delHHERCS(1)|p.H86D(1)|p.H86N(1)|p.C176fs*65(1)|p.R181G(1)|p.C176fs*68(1)|p.R174_H178>S(1)|p.H46D(1)|p.R181>XXXXXXX(1)|p.H178_H179>QY(1)|p.H85D(1)|p.?(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.P84R(1)|p.P177_H179delPHH(1)|p.E180fs*6(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)		CGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTC	0.638		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)			11	11	---	---	---	---					
KIAA0355	9710	broad.mit.edu	37	19	34840010	34840011	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr19:34840010_34840011delTC	ENST00000299505.6	+	12	3650_3651	c.2777_2778delTC	c.(2776-2778)tfs	p.F926fs	AC010504.2_ENST00000591311.1_RNA	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	926										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GACAGCTTGTTCTCCATGTTTT	0.559													11	57	---	---	---	---					
KIF16B	55614	broad.mit.edu	37	20	16347969	16347969	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chr20:16347969delG	ENST00000408042.1	-	23	4158	c.4001delC	c.(4000-4002)ctfs	p.P1334fs	KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000378003.2_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ACCCACTGAAGGTTTGAGTTT	0.428													39	149	---	---	---	---					
TFE3	7030	broad.mit.edu	37	X	48888962	48888980	+	Frame_Shift_Del	DEL	GGCTCTCCAGGTCTTTGGA	GGCTCTCCAGGTCTTTGGA	-			TCGA-EE-A29L-06A-12D-A196-08	TCGA-EE-A29L-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a626c740-1caf-4fb9-9fd0-cc54b541f21f	733ad89a-8fd6-4293-8a62-ab83f1d1e8c7	g.chrX:48888962_48888980delGGCTCTCCAGGTCTTTGGA	ENST00000315869.7	-	9	1475_1493	c.1216_1234delTCCAAAGACCTGGAGAGCC	c.(1216-1236)ggfs	p.SKDLESR406fs	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	406					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GATCGCTGCCGGCTCTCCAGGTCTTTGGAGCGCTGCTGC	0.607			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								5	3	---	---	---	---					
