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
PGBD1	84547	broad.mit.edu	37	6	28268649	28268649	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:28268649C>T	ENST00000405948.2	+	7	1438	c.1018C>T	c.(1018-1020)Cga>Tga	p.R340*	PGBD1_ENST00000259883.3_Nonsense_Mutation_p.R340*	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	340					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	p.R340R(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AGACATTACCCGAAAAGGGAG	0.483000													85	26					0	0	0.000147903	0	0
ACE	1636	broad.mit.edu	37	17	61561305	61561305	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:61561305G>A	ENST00000290866.4	+	11	1706	c.1682G>A	c.(1681-1683)cGg>cAg	p.R561Q	ACE_ENST00000428043.1_Missense_Mutation_p.R561Q	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	561	Peptidase M2 1.		R -> W (in dbSNP:rs4314).		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)	GACATCTACCGGTCCACCAAG	0.607000													8	9					0	0	0.000274275	0	0
MVP	9961	broad.mit.edu	37	16	29842365	29842365	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:29842365C>T	ENST00000357402.5	+	3	430	c.292C>T	c.(292-294)Ccc>Tcc	p.P98S	MVP_ENST00000452209.2_Intron|MVP_ENST00000395353.1_Missense_Mutation_p.P98S	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	98					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GGACCCCTTCCCCCTGTACCC	0.617000													8	8					0	0	0.000274275	0	0
OR6A2	8590	broad.mit.edu	37	11	6816406	6816406	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:6816406G>A	ENST00000332601.3	-	1	722	c.534C>T	c.(532-534)atC>atT	p.I178I		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTGGTTGATGATGTTGGGGC	0.463000													26	30					0	0	0.000184323	0	0
DDB2	1643	broad.mit.edu	37	11	47259440	47259440	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:47259440C>T	ENST00000256996.4	+	8	1271	c.1076C>T	c.(1075-1077)cCt>cTt	p.P359L	DDB2_ENST00000378601.3_3'UTR|DDB2_ENST00000378600.3_Missense_Mutation_p.P170L|DDB2_ENST00000378603.3_Missense_Mutation_p.P295L	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	359					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TACCCAGATCCTAATTTCAAA	0.488000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				41	69					0	0	0.000509022	0	0
SERPINA5	5104	broad.mit.edu	37	14	95054239	95054239	+	Silent	SNP	G	G	A	rs146244413		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:95054239G>A	ENST00000329597.7	+	3	750	c.540G>A	c.(538-540)acG>acA	p.T180T	SERPINA5_ENST00000554866.1_Silent_p.T180T|SERPINA5_ENST00000553780.1_Silent_p.T180T|SERPINA5_ENST00000554276.1_Silent_p.T180T	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	180					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	p.T180T(2)		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)	CAAAGCAAACGAAGGGCAAGA	0.483000													48	62					0	0	0.000147903	0	0
CTSG	1511	broad.mit.edu	37	14	25042852	25042852	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:25042852G>A	ENST00000216336.2	-	5	795	c.759C>T	c.(757-759)acC>acT	p.T253T		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	253					immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GTCACAGGGGGGTCTCCATCT	0.502000													81	110					0	0	0.000147903	0	0
FAM194A	131831	broad.mit.edu	37	3	150403561	150403561	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:150403561C>T	ENST00000295910.6	-	6	803	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	FAM194A_ENST00000491361.1_Missense_Mutation_p.E105K	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	251										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GAGCTCTCTTCTTTGTATGCC	0.338000													26	30					0	0	0.000184323	0	0
GAGE10	643832	broad.mit.edu	37	X	49173731	49173731	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chrX:49173731C>T	ENST00000407599.3	+	4	385	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	98										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					GGAGATGGGCCTGCCAAATCC	0.483000													78	6					0	0	0.000147903	0	0
MORC1	27136	broad.mit.edu	37	3	108705742	108705742	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:108705742G>A	ENST00000232603.5	-	22	2324	c.2242C>T	c.(2242-2244)Cct>Tct	p.P748S	MORC1_ENST00000483760.1_Missense_Mutation_p.P727S	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	748					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTAAAAGAGGAATTTCCTTT	0.279000													6	5					0	0	8.12818e-05	0	0
XKR6	286046	broad.mit.edu	37	8	10756350	10756350	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:10756350C>T	ENST00000416569.2	-	3	1064	c.1038G>A	c.(1036-1038)agG>agA	p.R346R	XKR6_ENST00000304437.2_Silent_p.R67R	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	346						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)		TCTTGTCGTCCCTGGAGTCCC	0.557000													55	50					0	0	0.000147903	0	0
CTNNA3	29119	broad.mit.edu	37	10	67748450	67748450	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:67748450C>T	ENST00000433211.1	-	16	2439	c.2265_splice	c.e16+1	p.Q755_splice	CTNNA3_ENST00000373744.4_Splice_Site_p.Q755_splice|CTNNA3_ENST00000373735.1_Splice_Site_p.Q94_splice	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	755					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGTAACTCACCTGATTAGCAA	0.378000													36	43					0	0	0.000191422	0	0
PREX2	80243	broad.mit.edu	37	8	69032459	69032459	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:69032459G>A	ENST00000288368.4	+	29	3810	c.3533G>A	c.(3532-3534)gGg>gAg	p.G1178E		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1178					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTCCTAAAAGGGCAGGCTGTT	0.383000													44	70					0	0	0.000147903	0	0
COL7A1	1294	broad.mit.edu	37	3	48629347	48629347	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:48629347T>A	ENST00000328333.8	-	10	1448	c.1341A>T	c.(1339-1341)gaA>gaT	p.E447D	COL7A1_ENST00000454817.1_Missense_Mutation_p.E447D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	447	Fibronectin type-III 3.|Nonhelical region (NC1).				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)		CACGCCGCCATTCCAACCGGT	0.627000													63	43					0	0	0.000147903	0	0
CD81-AS1	101927682	broad.mit.edu	37	11	2356547	2356547	+	RNA	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:2356547C>T	ENST00000413483.1	-	0	407				RPL26P30_ENST00000602923.1_RNA																							TCTATTTATTCCTGCATTTTC	0.383000													13	12					0	0	0.000308642	0	0
FBXO41	150726	broad.mit.edu	37	2	73493768	73493768	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:73493768C>T	ENST00000521871.1	-	3	1363	c.948G>A	c.(946-948)gcG>gcA	p.A316A	FBXO41_ENST00000295133.5_Silent_p.A377A|FBXO41_ENST00000520530.2_Silent_p.A316A			Q8TF61	FBX41_HUMAN	F-box protein 41	316						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						TGGCCTCCCGCGCCGCCGTCT	0.667000													26	45					0	0	0.00058488	0	0
DNAH11	8701	broad.mit.edu	37	7	21906245	21906245	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:21906245G>T	ENST00000328843.6	+	72	11706	c.11675G>T	c.(11674-11676)aGa>aTa	p.R3892I	DNAH11_ENST00000409508.3_Missense_Mutation_p.R3885I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3892					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						ATTCTTCTGAGAGCAATGCGC	0.413000									Kartagener syndrome				31	40					9.04072e-19	1.579e-17	0.00058488	1	0
MOG	4340	broad.mit.edu	37	6	29638086	29638086	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:29638086G>A	ENST00000376894.4	+	6	739	c.621G>A	c.(619-621)tgG>tgA	p.W207*	MOG_ENST00000431798.2_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000376898.3_Nonsense_Mutation_p.W207*|MOG_ENST00000416766.2_Nonsense_Mutation_p.W169*|MOG_ENST00000376888.2_Nonsense_Mutation_p.W91*|MOG_ENST00000376917.3_Nonsense_Mutation_p.W207*|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000396701.2_Intron|MOG_ENST00000376891.4_Intron|MOG_ENST00000494692.1_Intron|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000396704.3_Intron|MOG_ENST00000490427.1_Intron			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	207					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TGCCCTGCTGGAAGATAACCC	0.507000													67	180					0	0	0.000147903	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140865557	140865557	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:140865557C>T	ENST00000306593.1	+	1	817	c.817C>T	c.(817-819)Ccc>Tcc	p.P273S	PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCTGGGTCCCAGTGGTAA	0.537000													34	51					0	0	0.000409698	0	0
HFE2	148738	broad.mit.edu	37	1	145416872	145416872	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:145416872C>T	ENST00000336751.5	+	4	1455	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	HFE2_ENST00000497365.1_Missense_Mutation_p.S180F|HFE2_ENST00000357836.5_Missense_Mutation_p.S293F|HFE2_ENST00000475797.1_Missense_Mutation_p.S180F	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	406					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTTCCTCTTTCCTCAGCAACC	0.522000													50	66					0	0	0.000147903	0	0
DOCK7	85440	broad.mit.edu	37	1	63005462	63005462	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:63005462G>A	ENST00000251157.5	-	26	3180	c.3147C>T	c.(3145-3147)gtC>gtT	p.V1049V	DOCK7_ENST00000340370.5_Silent_p.V1018V	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1049					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CAATCGTGCTGACAAGAGCTG	0.373000													20	24					0	0	0.000229342	0	0
SLIT3	6586	broad.mit.edu	37	5	168180945	168180945	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:168180945C>T	ENST00000519560.1	-	17	2172	c.1753G>A	c.(1753-1755)Gag>Aag	p.E585K	SLIT3_ENST00000332966.8_Missense_Mutation_p.E585K|SLIT3_ENST00000404867.3_Missense_Mutation_p.E585K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	585					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)			AGCATCAGCTCCTGCACGCTG	0.562000													9	14					0	0	0.000274275	0	0
VWA3B	200403	broad.mit.edu	37	2	98928668	98928668	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:98928668C>T	ENST00000477737.1	+	28	3945	c.3741C>T	c.(3739-3741)gcC>gcT	p.A1247A	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1247										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCCAGACAGCCCACCTCCACT	0.582000													21	19					0	0	0.00047179	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221520	118221520	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chrX:118221520G>A	ENST00000402510.2	-	11	3672	c.3673C>T	c.(3673-3675)Cct>Tct	p.P1225S		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1225										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						GATTTGGAAGGAAGATTGGGA	0.453000													15	3					0	0	0.000422831	0	0
NOTCH2	4853	broad.mit.edu	37	1	120510169	120510169	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:120510169C>T	ENST00000256646.2	-	8	1559	c.1340G>A	c.(1339-1341)gGt>gAt	p.G447D		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	447	EGF-like 11; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTGCATAACCCTTCAGACA	0.478000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				161	196					0	0	0.000147903	0	0
POM121L9P	29774	broad.mit.edu	37	22	24658478	24658478	+	RNA	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:24658478C>T	ENST00000414583.2	+	0	2895					NR_003714.1																						TTCAGCGTGCCTGCGATGGCG	0.567000													5	15					0	0	3.59834e-05	0	0
GNB4	59345	broad.mit.edu	37	3	179132722	179132722	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:179132722C>T	ENST00000232564.3	-	6	667	c.381G>A	c.(379-381)aaG>aaA	p.K127K	GNB4_ENST00000468623.1_Silent_p.K127K	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	127					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			CCTCTCTGGTCTTTAAGTTAT	0.473000													107	127					0	0	0.000147903	0	0
P2RY13	53829	broad.mit.edu	37	3	151046191	151046191	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:151046191C>T	ENST00000325602.5	-	2	672	c.653G>A	c.(652-654)tGg>tAg	p.W218*	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	218						integral to membrane|plasma membrane		p.W197L(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			AAAAACAGTCCAGAAAATAAA	0.353000													14	21					0	0	0.000422831	0	0
CFHR5	81494	broad.mit.edu	37	1	196952032	196952032	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:196952032C>T	ENST00000367414.5	+	2	204	c.148C>T	c.(148-150)Cca>Tca	p.P50S	CFHR5_ENST00000256785.4_Missense_Mutation_p.P26S	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	26	Sushi 1.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTGTGATTTTCCAAAAATACA	0.308000													14	34					0	0	0.000308642	0	0
PPP2R5E	5529	broad.mit.edu	37	14	63851163	63851163	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:63851163G>A	ENST00000337537.3	-	12	1803	c.1202_splice	c.e12+1	p.P401_splice	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Splice_Site_p.P325_splice|PPP2R5E_ENST00000555899.1_Splice_Site_p.P401_splice	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	401					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		AAAACCTACGGATTCCAATGT	0.398000													53	58					0	0	0.000147903	0	0
KLK3	354	broad.mit.edu	37	19	51361716	51361716	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:51361716C>T	ENST00000360617.3	+	4	495	c.493_splice	c.e4-1	p.F165_splice	KLK3_ENST00000326003.2_Splice_Site_p.F165_splice|KLK3_ENST00000593997.1_Splice_Site_p.F165_splice|KLK3_ENST00000597483.1_Splice_Site_p.F122_splice|KLK3_ENST00000595952.1_Splice_Site_p.F122_splice			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	165	Peptidase S1.			FLTP -> HLLYDQM (in Ref. 13; AA sequence).	negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GGCCCGTAGTCTTGACCCCAA	0.552000													63	60					0	0	0.000147903	0	0
TRPC5	7224	broad.mit.edu	37	X	111156002	111156002	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chrX:111156002G>A	ENST00000262839.2	-	3	1335	c.417C>T	c.(415-417)ttC>ttT	p.F139F		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	139					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTCCGGTGTGAATTCAGAGA	0.488000													41	6					0	0	0.000589545	0	0
TSNARE1	203062	broad.mit.edu	37	8	143399925	143399925	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:143399925G>A	ENST00000519651.1	-	5	410	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L	TSNARE1_ENST00000524325.1_Silent_p.L322L|TSNARE1_ENST00000307180.3_Silent_p.L322L|TSNARE1_ENST00000520166.1_Silent_p.L322L|TSNARE1_ENST00000518928.1_5'UTR			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	322					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)					CTGCGCAGCAGCTCGGCCATC	0.652000													44	64					0	0	0.000147903	0	0
HYDIN	54768	broad.mit.edu	37	16	70871611	70871611	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:70871611C>T	ENST00000393567.2	-	77	13374	c.13224G>A	c.(13222-13224)ggG>ggA	p.G4408G		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4408										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)				TGGTACCCTTCCCTTTGATTT	0.458000													16	26					0	0	0.000229342	0	0
IGHV3-15	28448	broad.mit.edu	37	14	106610746	106610746	+	RNA	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:106610746G>A	ENST00000390603.2	-	0	106																											TAGCAGCAAGGAAAATCCAGC	0.463000													32	43					0	0	0.000191422	0	0
PDE4A	5141	broad.mit.edu	37	19	10568589	10568589	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:10568589G>A	ENST00000380702.2	+	9	846	c.846G>A	c.(844-846)acG>acA	p.T282T	PDE4A_ENST00000440014.2_Silent_p.T243T|PDE4A_ENST00000352831.6_Silent_p.T304T|PDE4A_ENST00000592685.1_Silent_p.T282T|PDE4A_ENST00000344979.3_Silent_p.T65T|PDE4A_ENST00000293683.5_Silent_p.T278T			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	304					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CATCACCCACGATGAAGGAAC	0.562000													21	28					0	0	0.00047179	0	0
NKAIN1	79570	broad.mit.edu	37	1	31655411	31655411	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:31655411G>T	ENST00000373736.2	-	5	504	c.498C>A	c.(496-498)taC>taA	p.Y166*	NKAIN1_ENST00000398657.2_Nonsense_Mutation_p.Y95*|NKAIN1_ENST00000263693.1_Nonsense_Mutation_p.Y122*	NM_024522.2	NP_078798.2	Q4KMZ8	NKAI1_HUMAN	Na+/K+ transporting ATPase interacting 1	166						integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(1)|kidney(2)|ovary(1)|prostate(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)		CTTTGCTCACGTAGCAGGCGA	0.637000													37	33					9.9191e-30	1.7352e-28	0.000374591	1	0
OR6C74	254783	broad.mit.edu	37	12	55641164	55641164	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:55641164C>T	ENST00000343870.4	+	1	183	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TCCTTTTTTTCACCTACATGT	0.378000													28	41					0	0	0.000117367	0	0
DUSP22	56940	broad.mit.edu	37	6	348142	348142	+	Silent	SNP	A	A	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:348142A>G	ENST00000419235.2	+	6	381	c.303A>G	c.(301-303)gcA>gcG	p.A101A	DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000344450.5_Silent_p.A101A|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	101	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TGGTGATCGCATACATCATGA	0.612000													36	199					0	0	0.000437636	0	0
EDC3	80153	broad.mit.edu	37	15	74967365	74967365	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:74967365G>A	ENST00000315127.4	-	2	282	c.101C>T	c.(100-102)aCc>aTc	p.T34I	EDC3_ENST00000426797.3_Missense_Mutation_p.T34I|EDC3_ENST00000568176.1_Missense_Mutation_p.T34I	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	34	Required for P-body targeting and interaction with DCP1A (By similarity).				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GAGAGAAATGGTCTGGCTGAC	0.493000													84	119					0	0	0.000147903	0	0
IGKV6D-41	28869	broad.mit.edu	37	2	90108540	90108540	+	RNA	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:90108540C>T	ENST00000390271.2	+	0	37																											ATGGTGTCCCCGTTGCAATTC	0.403000													40	50					0	0	0.000125731	0	0
FAIM3	9214	broad.mit.edu	37	1	207087397	207087397	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:207087397C>T	ENST00000367091.3	-	2	223	c.80G>A	c.(79-81)gGg>gAg	p.G27E	FAIM3_ENST00000420007.2_Missense_Mutation_p.G27E|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	27					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GCCCAGCTCCCCCTCTACCTT	0.547000													42	47					0	0	0.000509022	0	0
OR4S2	219431	broad.mit.edu	37	11	55418847	55418847	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:55418847C>T	ENST00000312422.2	+	1	468	c.468C>T	c.(466-468)atC>atT	p.I156I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				ACTCCATTATCCAAGTGGCTC	0.433000													25	26					0	0	0.00047179	0	0
EPHB6	2051	broad.mit.edu	37	7	142566077	142566077	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:142566077A>G	ENST00000392957.2	+	14	2784	c.1997A>G	c.(1996-1998)gAt>gGt	p.D666G	EPHB6_ENST00000442129.1_Missense_Mutation_p.D666G|EPHB6_ENST00000411471.2_Missense_Mutation_p.D389G	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	666						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CGGGAAGTCGATCCTGCTTAT	0.592000													7	49					0	0	0.000157383	0	0
PPA2	27068	broad.mit.edu	37	4	106377875	106377875	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:106377875G>A	ENST00000341695.5	-	2	215	c.185C>T	c.(184-186)cCc>cTc	p.P62L	PPA2_ENST00000348706.5_Missense_Mutation_p.P62L|PPA2_ENST00000357415.4_Missense_Mutation_p.P62L|PPA2_ENST00000380004.2_Missense_Mutation_p.P62L|PPA2_ENST00000310267.7_Intron|PPA2_ENST00000354147.3_Intron|PPA2_ENST00000509426.1_5'UTR|PPA2_ENST00000432483.2_Missense_Mutation_p.P62L	NM_176869.2	NP_789845.1	Q9H2U2	IPYR2_HUMAN	pyrophosphatase (inorganic) 2	62					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		ATCATGAAAGGGGGAAATGTA	0.348000													58	78					0	0	0.000147903	0	0
ATP10A	57194	broad.mit.edu	37	15	25924935	25924935	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:25924935G>A	ENST00000356865.6	-	21	4164	c.4053C>T	c.(4051-4053)tcC>tcT	p.S1351S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1351					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AAGAAGGCTGGGACAGGGGCA	0.637000													22	44					0	0	0.000375601	0	0
DOCK3	1795	broad.mit.edu	37	3	51274960	51274960	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:51274960C>T	ENST00000266037.9	+	21	2064	c.2041C>T	c.(2041-2043)Cac>Tac	p.H681Y		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	681						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)		CAAGTATTTTCACTTTCGACC	0.468000													20	16					0	0	0.00047179	0	0
BTD	686	broad.mit.edu	37	3	15686329	15686329	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:15686329C>T	ENST00000383778.4	+	4	1264	c.906C>T	c.(904-906)taC>taT	p.Y302Y	BTD_ENST00000303498.5_Silent_p.Y322Y|BTD_ENST00000437172.1_Silent_p.Y324Y|BTD_ENST00000449107.1_Silent_p.Y324Y			P43251	BTD_HUMAN	biotinidase	322	CN hydrolase.				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						CCTTTTGGTACCATGACATGG	0.502000													28	44					0	0	0.000147802	0	0
HINT2	84681	broad.mit.edu	37	9	35813317	35813317	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:35813317G>A	ENST00000259667.5	-	4	387	c.346C>T	c.(346-348)Ctt>Ttt	p.L116F	HINT2_ENST00000474908.1_5'UTR	NM_032593.2	NP_115982.1	Q9BX68	HINT2_HUMAN	histidine triad nucleotide binding protein 2	116	HIT.				apoptosis|steroid biosynthetic process	mitochondrion	hydrolase activity			NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			TTGGCCACAAGGAGTAGGTGT	0.552000											OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	93	62					0	0	0.000147903	0	0
FAM83B	222584	broad.mit.edu	37	6	54806270	54806270	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:54806270C>T	ENST00000306858.7	+	5	2617	c.2501C>T	c.(2500-2502)tCc>tTc	p.S834F		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	834	Poly-Ser.									autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AAGCATTCTTCCTCATCGAAT	0.378000													7	16					0	0	0.000442599	0	0
PHRF1	57661	broad.mit.edu	37	11	609396	609396	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:609396C>T	ENST00000264555.5	+	14	4068	c.3940C>T	c.(3940-3942)Ctg>Ttg	p.L1314L	PHRF1_ENST00000413872.2_Silent_p.L1312L|PHRF1_ENST00000533464.1_Silent_p.L1310L|PHRF1_ENST00000416188.2_Silent_p.L1313L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1314							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCCAGCCAGCCTGGCCGTGGC	0.632000													6	12					0	0	8.12818e-05	0	0
KCNA1	3736	broad.mit.edu	37	12	5020851	5020851	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:5020851C>T	ENST00000382545.3	+	2	1414	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	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)	103					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)	CGGCCGCCTGCGGAGGCCGGT	0.617000													19	44					0	0	0.000295444	0	0
SLC4A3	6508	broad.mit.edu	37	2	220502344	220502344	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:220502344G>A	ENST00000358055.3	+	17	3089	c.2577G>A	c.(2575-2577)gaG>gaA	p.E859E	SLC4A3_ENST00000373760.2_Silent_p.E859E|SLC4A3_ENST00000317151.3_Silent_p.E859E|SLC4A3_ENST00000273063.6_Silent_p.E886E|SLC4A3_ENST00000373762.3_Silent_p.E886E			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	859	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCCCCCTGAGGGGGCCCTGG	0.642000													9	20					0	0	0.000151284	0	0
VWA5A	4013	broad.mit.edu	37	11	123988943	123988943	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:123988943C>T	ENST00000456829.2	+	5	545	c.294C>T	c.(292-294)ttC>ttT	p.F98F	VWA5A_ENST00000392744.4_Silent_p.F114F|VWA5A_ENST00000392748.1_Silent_p.F98F|VWA5A_ENST00000361352.5_Silent_p.F98F|VWA5A_ENST00000360334.4_Silent_p.F98F|VWA5A_ENST00000449321.1_Silent_p.F98F	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	98	VIT.									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						ACCAGGCCTTCTTATTGGAGG	0.567000													18	31					0	0	7.07596e-05	0	0
RIOK2	55781	broad.mit.edu	37	5	96504523	96504523	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:96504523A>T	ENST00000283109.3	-	7	881	c.813T>A	c.(811-813)gaT>gaA	p.D271E	RIOK2_ENST00000508447.1_Missense_Mutation_p.D271E|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	271	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TCATAAAGAAATCTTTAATGC	0.318000													36	55					0	0	0.00058488	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140769605	140769605	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:140769605C>T	ENST00000519479.1	+	1	2154	c.2154C>T	c.(2152-2154)agC>agT	p.S718S	PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCCTCCAGCCCCGCCTCCT	0.572000													72	123					0	0	0.000147903	0	0
ANO1	55107	broad.mit.edu	37	11	69995855	69995855	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:69995855G>A	ENST00000355303.5	+	12	1603	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	ANO1_ENST00000538023.1_Missense_Mutation_p.R433Q|ANO1_ENST00000530676.1_Missense_Mutation_p.R317Q|ANO1_ENST00000398543.2_Missense_Mutation_p.R317Q|ANO1_ENST00000531349.1_Missense_Mutation_p.R168Q|ANO1_ENST00000316296.5_Missense_Mutation_p.R405Q	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	433					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	p.R433Q(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AAACAGATGCGACTCAACTAC	0.537000													10	12					0	0	0.00010058	0	0
CDH7	1005	broad.mit.edu	37	18	63511245	63511245	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr18:63511245G>A	ENST00000536984.2	+	7	1873	c.1179G>A	c.(1177-1179)ggG>ggA	p.G393G	CDH7_ENST00000323011.3_Silent_p.G393G|CDH7_ENST00000397968.2_Silent_p.G393G			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	393	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G393G(2)		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)				CCCAGGTTGGGAATATCATTG	0.448000													19	43					0	0	0.000175454	0	0
AFF1	4299	broad.mit.edu	37	4	88029343	88029343	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:88029343C>T	ENST00000307808.6	+	10	1808	c.1388C>T	c.(1387-1389)tCa>tTa	p.S463L	AFF1_ENST00000395146.4_Missense_Mutation_p.S470L|AFF1_ENST00000544085.1_Missense_Mutation_p.S101L	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	463						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCAGTGGCATCAGCACATTCC	0.483000													16	42					0	0	7.07596e-05	0	0
PITX2	5308	broad.mit.edu	37	4	111539826	111539826	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:111539826G>A	ENST00000354925.2	-	7	2114	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	PITX2_ENST00000355080.5_Missense_Mutation_p.R91W|PITX2_ENST00000394598.2_Missense_Mutation_p.R137W|PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000306732.3_Missense_Mutation_p.R144W|PITX2_ENST00000394595.3_Missense_Mutation_p.S68L	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	137			R -> P (in RIEG1).		determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CATTTGGCCCGACGATTCTTG	0.572000													34	36					0	0	0.000270559	0	0
TRIML1	339976	broad.mit.edu	37	4	189068082	189068082	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:189068082G>A	ENST00000332517.3	+	6	1103	c.963G>A	c.(961-963)ccG>ccA	p.P321P	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	321	B30.2/SPRY.				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)		CCGACAACCCGGAAAGATTTG	0.542000													28	41					0	0	0.000117367	0	0
IFT43	112752	broad.mit.edu	37	14	76525678	76525678	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:76525678T>C	ENST00000314067.6	+	5	291	c.257T>C	c.(256-258)cTc>cCc	p.L86P	IFT43_ENST00000238628.6_Intron	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43 homolog (Chlamydomonas)	86					cilium morphogenesis|intraflagellar retrograde transport					endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						AGTTTCCGCCTCAGACCACAG	0.458000													26	32					0	0	0.000227799	0	0
RPL26L1	51121	broad.mit.edu	37	5	172396539	172396539	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:172396539G>A	ENST00000521476.1	+	4	557	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	RPL26L1_ENST00000265100.2_Missense_Mutation_p.E145K|RPL26L1_ENST00000519974.1_Missense_Mutation_p.E145K|RPL26L1_ENST00000519239.1_Missense_Mutation_p.E145K			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	145					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAAAATGCAGGAATAAATAGA	0.388000													13	65					0	0	0.000422831	0	0
C1orf173	127254	broad.mit.edu	37	1	75038009	75038009	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:75038009C>T	ENST00000326665.5	-	14	3603	c.3385G>A	c.(3385-3387)Gaa>Aaa	p.E1129K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1129	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						ACAGGTGCTTCGTTCTCAGCA	0.468000													26	40					0	0	0.000586117	0	0
C17orf47	284083	broad.mit.edu	37	17	56619994	56619994	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:56619994G>A	ENST00000321691.3	-	1	1735	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	518										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TACCCAGGAAGAAAGCAGTAA	0.527000													67	134					0	0	0.000147903	0	0
OR8D2	283160	broad.mit.edu	37	11	124189444	124189444	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:124189444G>C	ENST00000357438.2	-	1	740	c.650C>G	c.(649-651)tCt>tGt	p.S217C		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	217					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)		GAAAGCATAAGAGATAAGGAC	0.448000													13	22					0	0	0.00010058	0	0
ANK3	288	broad.mit.edu	37	10	61846624	61846624	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:61846624C>T	ENST00000280772.1	-	30	3750	c.3559G>A	c.(3559-3561)Gaa>Aaa	p.E1187K	ANK3_ENST00000373827.2_Missense_Mutation_p.E1181K|ANK3_ENST00000503366.1_Missense_Mutation_p.E1188K|ANK3_ENST00000355288.2_Missense_Mutation_p.E321K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1187					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						TTCACAATTTCATCTGGAACA	0.358000													7	26					0	0	8.12818e-05	0	0
PC	5091	broad.mit.edu	37	11	66617523	66617523	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:66617523C>A	ENST00000393960.1	-	20	3064	c.2783G>T	c.(2782-2784)cGg>cTg	p.R928L	PC_ENST00000393955.2_Missense_Mutation_p.R928L|PC_ENST00000393958.2_Missense_Mutation_p.R928L|PC_ENST00000529047.1_Missense_Mutation_p.R48L	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	928					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGCCTCTGCCCGGCTCAATCC	0.637000													8	84					0.000157383	0.00268393	0.000157383	1	0
CACNA1S	779	broad.mit.edu	37	1	201063042	201063042	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:201063042C>T	ENST00000362061.3	-	3	592	c.366G>A	c.(364-366)tgG>tgA	p.W122*	CACNA1S_ENST00000367338.3_Nonsense_Mutation_p.W122*	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	122					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)	CCAGCACATTCCAGCCACTGC	0.547000													26	33					0	0	0.000184323	0	0
CNGA1	1259	broad.mit.edu	37	4	47939760	47939760	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:47939760G>A	ENST00000402813.3	-	10	1100	c.958C>T	c.(958-960)Ctg>Ttg	p.L320L	CNGA1_ENST00000514170.1_Silent_p.L251L|CNGA1_ENST00000358519.4_Silent_p.L251L|CNGA1_ENST00000420489.2_Silent_p.L251L|CNGA1_ENST00000544810.1_Silent_p.L251L			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	251			S -> F (in RP49).		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						ATCAGTGACAGAACATCAAGT	0.323000													47	71					0	0	0.000147903	0	0
DCAF11	80344	broad.mit.edu	37	14	24592188	24592188	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:24592188C>T	ENST00000446197.3	+	14	2135	c.1408C>T	c.(1408-1410)Ctt>Ttt	p.L470F	DCAF11_ENST00000396936.1_Missense_Mutation_p.L370F|RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.P59L|DCAF11_ENST00000396941.4_Missense_Mutation_p.L444F|DCAF11_ENST00000559115.1_Missense_Mutation_p.L470F	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	470						CUL4 RING ubiquitin ligase complex	protein binding										AGTGTACGACCTTCTAAGTGG	0.532000													24	38					0	0	0.000586117	0	0
CCDC33	80125	broad.mit.edu	37	15	74610969	74610969	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:74610969G>A	ENST00000268082.4	+	1	59	c.39G>A	c.(37-39)aaG>aaA	p.K13K	CCDC33_ENST00000398814.3_Intron|CCDC33_ENST00000321288.5_Intron|CCDC33_ENST00000558821.1_Silent_p.K13K			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	0							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CAGCCCCCAAGGCTGCCCCAG	0.622000													8	9					0	0	0.000274275	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101572563	101572563	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:101572563C>T	ENST00000310954.6	-	13	2460	c.2174G>A	c.(2173-2175)tGa>tAa	p.*725*		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	0					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TTTCCCATTTCACCCTTCTTT	0.378000													19	31					0	0	0.000175454	0	0
GPR123	84435	broad.mit.edu	37	10	134896165	134896165	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:134896165C>T	ENST00000607359.1	+	6	1251	c.1251C>T	c.(1249-1251)ggC>ggT	p.G417G				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						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)		AGACCCACGGCCTTGGCCTGA	0.607000													8	17					0	0	0.000157383	0	0
CFB	629	broad.mit.edu	37	6	31918923	31918923	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:31918923G>A	ENST00000456570.1	+	27	3419	c.3364G>A	c.(3364-3366)Gaa>Aaa	p.E1122K	CFB_ENST00000425368.2_Missense_Mutation_p.E620K|CFB_ENST00000556679.1_Missense_Mutation_p.E1122K|CFB_ENST00000477310.1_Missense_Mutation_p.E971K			P00751	CFAB_HUMAN	complement factor B	620					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCGTCCAGAGGAAGAGCTGCT	0.507000													244	112					0	0	0.000147903	0	0
MUC16	94025	broad.mit.edu	37	19	9065925	9065925	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:9065925G>A	ENST00000397910.4	-	3	21724	c.21521C>T	c.(21520-21522)gCt>gTt	p.A7174V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7176	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						AGGATGCACAGCTTCTGTATT	0.498000													28	31					0	0	9.22233e-05	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				64	10					0	0	0.000147903	0	0
PDE6B	5158	broad.mit.edu	37	4	657927	657927	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:657927C>T	ENST00000255622.6	+	17	2089	c.2046C>T	c.(2044-2046)atC>atT	p.I682I	PDE6B_ENST00000496514.1_Silent_p.I682I|PDE6B_ENST00000429163.2_Silent_p.I403I	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	682					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						TTCAGAAGATCGTGGATGAGT	0.607000													32	50					0	0	0.000132358	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939556	12939556	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:12939556G>A	ENST00000235349.5	-	4	1316	c.1246C>T	c.(1246-1248)Cct>Tct	p.P416S		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	416										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)		CGGGGGGCAGGATACAGCTCC	0.512000													123	182					0	0	0.000147903	0	0
DOCK8	81704	broad.mit.edu	37	9	418204	418204	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:418204C>T	ENST00000432829.2	+	30	3949	c.3633C>T	c.(3631-3633)tcC>tcT	p.S1211S	DOCK8_ENST00000382329.1_Silent_p.S746S|DOCK8_ENST00000469391.1_Silent_p.S1179S|DOCK8_ENST00000453981.1_Silent_p.S1279S	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1279					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGCTGTCTTCCTTGGTATGTT	0.398000													174	120					0	0	0.000147903	0	0
EYA4	2070	broad.mit.edu	37	6	133789765	133789765	+	Missense_Mutation	SNP	C	C	T	rs41286200	by1000genomes	TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:133789765C>T	ENST00000367895.5	+	11	1330	c.866C>T	c.(865-867)aCg>aTg	p.T289M	EYA4_ENST00000355167.3_Missense_Mutation_p.T289M|EYA4_ENST00000525849.1_Missense_Mutation_p.T266M|EYA4_ENST00000452339.2_Missense_Mutation_p.T235M|EYA4_ENST00000430974.2_Missense_Mutation_p.T235M|EYA4_ENST00000431403.2_Missense_Mutation_p.T289M|EYA4_ENST00000531901.1_Missense_Mutation_p.T289M|EYA4_ENST00000355286.6_Missense_Mutation_p.T266M	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	289					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TCAGCATCAACGTATGGAGCG	0.418000													10	13					0	0	3.86212e-05	0	0
HOMER2	9455	broad.mit.edu	37	15	83544130	83544130	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:83544130C>T	ENST00000304231.8	-	3	381	c.189G>A	c.(187-189)ccG>ccA	p.P63P	HOMER2_ENST00000399166.2_Silent_p.P63P|HOMER2_ENST00000450735.2_Silent_p.P63P|HOMER2_ENST00000426485.1_Silent_p.P63P	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	63	WH1.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		p.P126P(1)|p.P63P(1)		cervix(1)|endometrium(2)|lung(6)	9						AGGTCATATTCGGTGTGATTG	0.438000													16	28					0	0	0.000422831	0	0
NCOA3	8202	broad.mit.edu	37	20	46265098	46265098	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:46265098C>T	ENST00000372004.3	+	12	2184	c.1968C>T	c.(1966-1968)ccC>ccT	p.P656P	NCOA3_ENST00000371997.3_Silent_p.P666P|NCOA3_ENST00000341724.6_Silent_p.P666P|NCOA3_ENST00000371998.3_Silent_p.P656P	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	656	Ser-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCACCAGCCCCTCTGGAGTCT	0.478000													27	39					0	0	0.000279167	0	0
CTSB	1508	broad.mit.edu	37	8	11710136	11710136	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:11710136C>T	ENST00000353047.6	-	3	448	c.195G>A	c.(193-195)ggG>ggA	p.G65G	CTSB_ENST00000434271.1_Silent_p.G65G|CTSB_ENST00000453527.2_Silent_p.G65G|CTSB_ENST00000415599.2_Silent_p.G65G|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000531089.1_Silent_p.G65G|CTSB_ENST00000533455.1_Silent_p.G65G|CTSB_ENST00000534510.1_Silent_p.G65G|CTSB_ENST00000530640.2_Silent_p.G65G|CTSB_ENST00000345125.3_Silent_p.G65G	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	65					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		GTGGCTTGGGCCCACCCAGGA	0.587000													11	20					0	0	0.00010058	0	0
SYTL2	54843	broad.mit.edu	37	11	85436668	85436668	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:85436668C>T	ENST00000359152.5	-	1	2403	c.2404G>A	c.(2404-2406)Gag>Aag	p.E802K	SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.E278K|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.E278K|SYTL2_ENST00000389960.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	312	C2 2.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AATCTCCCCTCTTCCAGCTTA	0.443000													42	53					0	0	0.000147903	0	0
SLIT3	6586	broad.mit.edu	37	5	168250273	168250273	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:168250273G>A	ENST00000519560.1	-	7	1040	c.621C>T	c.(619-621)atC>atT	p.I207I	SLIT3_ENST00000332966.8_Silent_p.I207I|SLIT3_ENST00000404867.3_Silent_p.I207I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	207					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)			ACAGAGTTCGGATCTTCGGCA	0.512000													66	86					0	0	0.000147903	0	0
SPRY3	10251	broad.mit.edu	37	X	155004374	155004374	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chrX:155004374C>T	ENST00000302805.2	+	2	1272	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	281					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						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)					TGCACCCTTCCCCAAGGCCCA	0.547000													32	54					0	0	0.000339439	0	0
ITGB6	3694	broad.mit.edu	37	2	161052834	161052834	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:161052834G>A	ENST00000283249.2	-	3	476	c.239C>T	c.(238-240)tCc>tTc	p.S80F	ITGB6_ENST00000409967.2_Missense_Mutation_p.S80F|ITGB6_ENST00000428609.2_Missense_Mutation_p.S38F|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.S80F			P18564	ITB6_HUMAN	integrin, beta 6	80					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTCTACTTGGGAGACAGGGTT	0.393000													78	90					0	0	0.000147903	0	0
DUSP22	56940	broad.mit.edu	37	6	348143	348143	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:348143T>C	ENST00000419235.2	+	6	382	c.304T>C	c.(304-306)Tac>Cac	p.Y102H	DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000344450.5_Missense_Mutation_p.Y102H|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	102	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GGTGATCGCATACATCATGAC	0.612000													36	201					0	0	0.000509022	0	0
ZNF90	7643	broad.mit.edu	37	19	20215170	20215170	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:20215170C>T	ENST00000418063.2	+	2	238	c.126C>T	c.(124-126)ttC>ttT	p.F42F	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	42	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						ACCTGGTCTTCCTTGGTGAGG	0.368000													23	35					0	0	0.000375601	0	0
CELSR1	9620	broad.mit.edu	37	22	46835151	46835151	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:46835151G>A	ENST00000262738.3	-	3	4340	c.4341C>T	c.(4339-4341)ttC>ttT	p.F1447F		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1447	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			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)		ACTGGGGCGGGAAGCTCCTGG	0.657000													29	40					0	0	0.000184323	0	0
MYT1L	23040	broad.mit.edu	37	2	1893184	1893184	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:1893184C>T	ENST00000399161.2	-	16	3096	c.2349G>A	c.(2347-2349)cgG>cgA	p.R783R	MYT1L_ENST00000428368.2_Silent_p.R781R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	783					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGCAGCTGTCCCGCGGCCTCT	0.612000													27	36					0	0	0.000279167	0	0
ASL	435	broad.mit.edu	37	7	65553802	65553802	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:65553802C>T	ENST00000450043.1	+	2	32	c.32C>T	c.(31-33)cCt>cTt	p.P11L	ASL_ENST00000304874.9_Silent_p.L243L|ASL_ENST00000395331.3_Silent_p.L243L|ASL_ENST00000395332.3_Silent_p.L243L|ASL_ENST00000380839.4_Silent_p.L217L																							AGCCGAGTTCCTGTTCTGGGC	0.607000													13	2					0	0	0.000219431	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215339	140215339	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:140215339G>A	ENST00000525929.1	+	1	1371	c.1371G>A	c.(1369-1371)caG>caA	p.Q457Q	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.Q457Q|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_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)			CGTTCGCGCAGCCCGAGTATA	0.672000													32	52					0	0	0.000159656	0	0
COL4A3	1285	broad.mit.edu	37	2	228128547	228128547	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:228128547G>A	ENST00000396578.3	+	21	1364	c.1202G>A	c.(1201-1203)gGa>gAa	p.G401E	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	401	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGCCTGAAAGGAAGTAAAGGG	0.522000													9	18					0	0	3.86212e-05	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42860032	42860032	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:42860032A>G	ENST00000455697.1	-	6	1024	c.739T>C	c.(739-741)Tat>Cat	p.Y247H	PRICKLE1_ENST00000552240.1_Missense_Mutation_p.Y247H|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.Y247H|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.Y247H|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.Y247H	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	247	LIM zinc-binding 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TACTCCGCATAGAGAGACTCA	0.522000													31	45					0	0	0.000491102	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541240	133541240	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:133541240G>A	ENST00000409261.1	-	14	3517	c.3144C>T	c.(3142-3144)acC>acT	p.T1048T	NCKAP5_ENST00000317721.6_Silent_p.T1048T|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1048							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						GGCGAGGAGAGGTTTTGGGGA	0.557000													31	42					0	0	0.000227799	0	0
OR4C12	283093	broad.mit.edu	37	11	50003384	50003384	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:50003384G>A	ENST00000335238.4	-	1	687	c.654C>T	c.(652-654)atC>atT	p.I218I		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ATCTCAAGATGATCACATAGG	0.403000													12	7					0	0	6.40141e-05	0	0
ARL6IP1	23204	broad.mit.edu	37	16	18806848	18806848	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:18806848G>A	ENST00000304414.7	-	4	557	c.346C>T	c.(346-348)Cga>Tga	p.R116*	ARL6IP1_ENST00000562819.1_Intron|ARL6IP1_ENST00000546206.2_Nonsense_Mutation_p.R87*|RP11-1035H13.3_ENST00000567078.2_Nonsense_Mutation_p.R116*	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	116						integral to membrane	protein binding			breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						GCTCTGCGTCGAGTTTTTACT	0.363000													30	44					0	0	0.000279167	0	0
DNAH3	55567	broad.mit.edu	37	16	20996810	20996810	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:20996810C>T	ENST00000261383.3	-	48	7253	c.7254G>A	c.(7252-7254)agG>agA	p.R2418R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2418	AAA 4 (By similarity).				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)		CACGGCAGATCCTAGAGATGT	0.552000													31	36					0	0	0.000279167	0	0
LPA	4018	broad.mit.edu	37	6	161071500	161071500	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:161071500C>T	ENST00000447678.1	-	3	199	c.79G>A	c.(79-81)Gat>Aat	p.D27N	LPA_ENST00000316300.5_Missense_Mutation_p.D27N	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	2535	Kringle 1.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGTAGCAATCCTGGACCACA	0.433000													44	65					0	0	0.000589545	0	0
KALRN	8997	broad.mit.edu	37	3	123946845	123946845	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:123946845C>T	ENST00000360013.3	+	2	203	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	KALRN_ENST00000460856.1_Missense_Mutation_p.R26W|KALRN_ENST00000240874.3_Missense_Mutation_p.R26W	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	26					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGGTCTTTTCGGAATGATGG	0.483000													58	76					0	0	0.000147903	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112017848	112017848	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:112017848C>T	ENST00000374566.3	-	11	1629	c.1112G>A	c.(1111-1113)gGa>gAa	p.G371E	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.G371E	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	371						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTGCTGTTTCCTGGCGTCCG	0.522000													33	4					0	0	0.000491102	0	0
UBTD2	92181	broad.mit.edu	37	5	171638918	171638918	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:171638918G>A	ENST00000393792.2	-	3	1026	c.621C>T	c.(619-621)ttC>ttT	p.F207F		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	207	Ubiquitin-like.					cytoplasm		p.F207F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCAGCTCTTCGAACTTCATTT	0.493000													47	65					0	0	0.000147903	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907672	164907672	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:164907672G>A	ENST00000475390.1	-	2	1390	c.947C>T	c.(946-948)tCt>tTt	p.S316F	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S316F			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	316						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AAAATGAACAGAGGATAGCAT	0.468000										HNSCC(40;0.11)			60	78					0	0	0.000147903	0	0
TFAP2A	7020	broad.mit.edu	37	6	10398686	10398686	+	Silent	SNP	G	G	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:10398686G>T	ENST00000379613.3	-	7	1540	c.1284C>A	c.(1282-1284)gcC>gcA	p.A428A	TFAP2A_ENST00000379608.3_Silent_p.A420A|TFAP2A_ENST00000379604.2_Silent_p.A426A|TFAP2A_ENST00000482890.1_Silent_p.A426A|TFAP2A_ENST00000319516.4_Silent_p.A422A			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	426					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CACTGCTTTTGGCGTTGTTGT	0.642000													11	793					3.52763e-06	6.04434e-05	0.000566183	1	0
COPG2	26958	broad.mit.edu	37	7	130147529	130147529	+	RNA	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:130147529C>T	ENST00000604965.1	+	0	29																											GTCTCACCTTCAAGGGTTTTG	0.398000													24	252					0	0	0.000295444	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135721893	135721893	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:135721893C>T	ENST00000264977.3	+	2	2170	c.1553C>T	c.(1552-1554)tCt>tTt	p.S518F	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	518					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GATTTGGAATCTTTTTCACAG	0.368000													23	36					0	0	0.00047179	0	0
KCNB2	9312	broad.mit.edu	37	8	73480030	73480030	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:73480030C>T	ENST00000523207.1	+	2	649	c.61C>T	c.(61-63)Cct>Tct	p.P21S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	21					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACTTTCCCTTCCTCCAGAGCC	0.522000													45	47					0	0	0.000147903	0	0
OR2T8	343172	broad.mit.edu	37	1	248084415	248084415	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:248084415C>T	ENST00000319968.4	+	1	96	c.96C>T	c.(94-96)atC>atT	p.I32I		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	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;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCTGAGTATCGTTTTGACCT	0.483000													22	35					0	0	0.000147802	0	0
HCN1	348980	broad.mit.edu	37	5	45262553	45262553	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:45262553G>A	ENST00000303230.4	-	8	2200	c.2143C>T	c.(2143-2145)Cga>Tga	p.R715*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	715						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						TGGAAAGTTCGAGCGGCCAGA	0.652000													18	16					0	0	9.7654e-05	0	0
SCN11A	11280	broad.mit.edu	37	3	38936092	38936092	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:38936092C>T	ENST00000302328.3	-	15	2965	c.2767G>A	c.(2767-2769)Gaa>Aaa	p.E923K	SCN11A_ENST00000450244.1_Missense_Mutation_p.E923K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E923K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E923K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	923					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)	ACGTCATCTTCCTCCTCCGCA	0.498000													56	122					0	0	0.000147903	0	0
CACNA1C	775	broad.mit.edu	37	12	2774773	2774773	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:2774773C>T	ENST00000399655.1	+	36	4690	c.4425C>T	c.(4423-4425)atC>atT	p.I1475I	CACNA1C_ENST00000399644.1_Silent_p.I1475I|CACNA1C_ENST00000406454.3_Silent_p.I1475I|CACNA1C_ENST00000399634.1_Silent_p.I1475I|CACNA1C_ENST00000399641.1_Silent_p.I1475I|CACNA1C_ENST00000399621.1_Silent_p.I1475I|CACNA1C_ENST00000399649.1_Silent_p.I1462I|CACNA1C_ENST00000402845.3_Silent_p.I1475I|CACNA1C_ENST00000399606.1_Silent_p.I1495I|CACNA1C_ENST00000399591.1_Silent_p.I1464I|CACNA1C_ENST00000399617.1_Silent_p.I1475I|CACNA1C_ENST00000335762.5_Silent_p.I1500I|CACNA1C_ENST00000344100.3_Silent_p.I1497I|CACNA1C_ENST00000399637.1_Silent_p.I1475I|CACNA1C_ENST00000399638.1_Silent_p.I1503I|CACNA1C_ENST00000347598.4_Silent_p.I1523I|CACNA1C_ENST00000399595.1_Silent_p.I1464I|CACNA1C_ENST00000327702.7_Silent_p.I1475I|CACNA1C_ENST00000399601.1_Silent_p.I1475I|CACNA1C_ENST00000399597.1_Silent_p.I1475I|CACNA1C_ENST00000399603.1_Silent_p.I1475I|CACNA1C_ENST00000399629.1_Silent_p.I1492I	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	1523					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)	TAGCTGTCATCATGGACAACT	0.512000													35	37					0	0	0.000228196	0	0
DLEC1	9940	broad.mit.edu	37	3	38158039	38158039	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:38158039G>A	ENST00000308059.6	+	28	3973	c.3952G>A	c.(3952-3954)Gac>Aac	p.D1318N	DLEC1_ENST00000452631.2_Missense_Mutation_p.D1321N|DLEC1_ENST00000346219.3_Missense_Mutation_p.D1318N			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1318					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCCGCTGCGGGACCAAGCCGG	0.597000													33	59					0	0	0.000132358	0	0
TAB1	10454	broad.mit.edu	37	22	39824104	39824104	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:39824104C>T	ENST00000216160.6	+	10	1285	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	TAB1_ENST00000331454.3_Missense_Mutation_p.S408F	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	408					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GTGACCCTCTCCCTTGTCATG	0.622000													19	30					0	0	0.000229342	0	0
TBX18	9096	broad.mit.edu	37	6	85466540	85466540	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:85466540G>A	ENST00000369663.5	-	4	984	c.647C>T	c.(646-648)tCg>tTg	p.S216L	TBX18_ENST00000606784.1_Missense_Mutation_p.S58L|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	216					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TGGCACAGGCGAGTCAGCATT	0.502000													10	22					0	0	0.000442599	0	0
ATXN1	6310	broad.mit.edu	37	6	16327906	16327906	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:16327906C>A	ENST00000244769.4	-	8	1572	c.636G>T	c.(634-636)caG>caT	p.Q212H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q212H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	212	Poly-Gln.				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)				gctgctgctgctgatgctgat	0.672000													4	26					0.00024832	0.00422807	0.00024832	1	0
KRT3	3850	broad.mit.edu	37	12	53186124	53186124	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:53186124G>A	ENST00000417996.2	-	5	1161	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	KRT3_ENST00000309505.3_Missense_Mutation_p.R363C	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	363	Linker 12.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TCCAGGGAGCGATTATTGTCC	0.522000													12	31					0	0	0.000151284	0	0
ITPR2	3709	broad.mit.edu	37	12	26810792	26810792	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:26810792C>T	ENST00000381340.3	-	18	2456	c.2040G>A	c.(2038-2040)gaG>gaA	p.E680E		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	680					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GGATGGAGCTCTCCATGGGGT	0.398000													26	27					0	0	9.22233e-05	0	0
OR6S1	341799	broad.mit.edu	37	14	21109418	21109418	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:21109418G>A	ENST00000320704.3	-	1	432	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		AAGGCCACACGAAAGCACACA	0.592000													7	15					0	0	8.12818e-05	0	0
PTPRB	5787	broad.mit.edu	37	12	70946612	70946612	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:70946612C>T	ENST00000334414.6	-	21	5376	c.5332G>A	c.(5332-5334)Gat>Aat	p.D1778N	PTPRB_ENST00000550857.1_Missense_Mutation_p.D1470N|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1690N|PTPRB_ENST00000261266.5_Missense_Mutation_p.D1560N|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1470N|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1470N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1560	Tyrosine-protein phosphatase.				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)			TGAGTGGGATCGCATTTTCCA	0.423000													26	26					0	0	0.000147802	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564229	176564229	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:176564229C>A	ENST00000367662.3	+	3	2653	c.1489C>A	c.(1489-1491)Cca>Aca	p.P497T	PAPPA2_ENST00000367661.3_Missense_Mutation_p.P497T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	497	Metalloprotease.				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						TTTGCAGCCCCCACTCTGTGG	0.532000													20	22					3.62473e-10	6.24029e-09	0.000229342	1	0
IL21	59067	broad.mit.edu	37	4	123542159	123542159	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:123542159G>A	ENST00000264497.3	-	1	65	c.8C>T	c.(7-9)tCc>tTc	p.S3F	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	80					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						GCCAGGACTGGATCTCATAAG	0.458000													23	22					0	0	0.000375601	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687663	27687663	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:27687663G>A	ENST00000438700.3	-	4	1981	c.1864C>T	c.(1864-1866)Cat>Tat	p.H622Y		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	622					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						TCCTGCACATGGAAACACCCA	0.373000													34	34					0	0	0.000132358	0	0
HIF3A	64344	broad.mit.edu	37	19	46825115	46825115	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:46825115C>T	ENST00000339613.2	+	10	1314	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	HIF3A_ENST00000377670.4_Silent_p.F409F|HIF3A_ENST00000244303.6_Silent_p.F340F|HIF3A_ENST00000472815.1_Silent_p.F340F|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000300862.3_Silent_p.F407F|HIF3A_ENST00000420102.2_Silent_p.F358F|HIF3A_ENST00000600383.1_Silent_p.F340F			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCCGCCGTTTCTGCAGCCCTG	0.687000													29	42					0	0	0.000339439	0	0
SLC13A1	6561	broad.mit.edu	37	7	122769450	122769450	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:122769450G>A	ENST00000194130.2	-	9	1057	c.1018C>T	c.(1018-1020)Ctt>Ttt	p.L340F	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	340						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ATTGGCCCAAGCTTTTGGTAT	0.403000													30	10					0	0	0.000339439	0	0
KDM3B	51780	broad.mit.edu	37	5	137756405	137756405	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:137756405C>T	ENST00000314358.5	+	15	3926	c.3726C>T	c.(3724-3726)tcC>tcT	p.S1242S	KDM3B_ENST00000394866.1_Silent_p.S898S|KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000542866.1_Silent_p.S274S	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1242					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AAGCAGGGTCCCTGAGGTCGG	0.458000													42	62					0	0	0.000147903	0	0
ITPR3	3710	broad.mit.edu	37	6	33652562	33652562	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:33652562G>A	ENST00000374316.5	+	40	6209	c.5149G>A	c.(5149-5151)Gac>Aac	p.D1717N	ITPR3_ENST00000605930.1_Missense_Mutation_p.D1717N			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1717					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CCTGGACCCAGACTGGTCGGC	0.627000													41	111					0	0	0.000589545	0	0
AKNAD1	254268	broad.mit.edu	37	1	109385790	109385790	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:109385790C>T	ENST00000370001.3	-	6	1613	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	AKNAD1_ENST00000369995.3_Missense_Mutation_p.E449K|AKNAD1_ENST00000357393.4_Missense_Mutation_p.E156K|AKNAD1_ENST00000369994.1_Missense_Mutation_p.E449K	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	449								p.E449K(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						ATTGTTGATTCGTGCTTGTGG	0.488000													60	43					0	0	0.000147903	0	0
LTBP1	4052	broad.mit.edu	37	2	33174001	33174001	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:33174001G>A	ENST00000404816.2	+	2	907	c.554G>A	c.(553-555)aGg>aAg	p.R185K	LTBP1_ENST00000354476.3_Missense_Mutation_p.R185K			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	185					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGCTCCCAGAGGTGCACCAAA	0.567000													45	50					0	0	0.000147903	0	0
RGMA	56963	broad.mit.edu	37	15	93595718	93595718	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:93595718G>A	ENST00000329082.7	-	3	421	c.150C>T	c.(148-150)atC>atT	p.I50I	RGMA_ENST00000556658.1_5'UTR|RGMA_ENST00000556087.1_Silent_p.I34I|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000557301.1_Silent_p.I58I|RGMA_ENST00000425933.2_Silent_p.I34I|RGMA_ENST00000555584.1_5'UTR|RGMA_ENST00000542321.2_Silent_p.I34I|RGMA_ENST00000543599.1_Silent_p.I34I|RGMA_ENST00000538818.1_5'UTR	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	50					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			TGCACTTGAGGATCTTGCACG	0.647000													10	12					0	0	0.00010058	0	0
TMEM108	66000	broad.mit.edu	37	3	133098855	133098855	+	Silent	SNP	C	C	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:133098855C>A	ENST00000515826.1	+	3	423	c.300C>A	c.(298-300)atC>atA	p.I100I	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Silent_p.I100I|TMEM108_ENST00000393130.3_Silent_p.I100I			Q6UXF1	TM108_HUMAN	transmembrane protein 108	100	Pro-rich.					integral to membrane		p.I100M(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCTCCACCATCGCTGCGACAG	0.662000													28	35					2.85442e-18	4.97733e-17	0.000339439	1	0
EML1	2009	broad.mit.edu	37	14	100406371	100406371	+	Silent	SNP	C	C	T	rs113496186		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:100406371C>T	ENST00000262233.6	+	22	2509	c.2370C>T	c.(2368-2370)gtC>gtT	p.V790V	EML1_ENST00000334192.4_Silent_p.V809V|EML1_ENST00000327921.9_Silent_p.V778V	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	790						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TCACCAATGTCGATTTCCTCT	0.557000													28	27					0	0	0.000117367	0	0
PSMG2	56984	broad.mit.edu	37	18	12706651	12706651	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr18:12706651C>T	ENST00000317615.6	+	2	842	c.160C>T	c.(160-162)Cca>Tca	p.P54S	RP11-973H7.2_ENST00000585331.1_RNA|PSMG2_ENST00000590217.1_Missense_Mutation_p.P54S	NM_020232.4|NM_147163.1	NP_064617.2|NP_671692.1	Q969U7	PSMG2_HUMAN	proteasome (prosome, macropain) assembly chaperone 2	54					proteasome assembly	nucleus	protein binding			lung(1)|prostate(2)|skin(1)	4						TTGTCTTGTGCCAATGGTTGG	0.378000													31	87					0	0	0.000227799	0	0
ZNF560	147741	broad.mit.edu	37	19	9577475	9577475	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:9577475G>A	ENST00000301480.4	-	10	2361	c.2148C>T	c.(2146-2148)gaC>gaT	p.D716D		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	716					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						CTTTCCCACAGTCCTTACATT	0.403000													25	40					0	0	9.22233e-05	0	0
CLCN1	1180	broad.mit.edu	37	7	143028681	143028681	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:143028681C>A	ENST00000343257.2	+	10	1189	c.1102C>A	c.(1102-1104)Ctg>Atg	p.L368M		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	368					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.L368V(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ATTTGTGTATCTGCATCGCCA	0.473000													99	18					2.05131e-73	3.60008e-72	0.000147903	1	0
KCNG4	93107	broad.mit.edu	37	16	84270359	84270359	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:84270359C>T	ENST00000568181.1	-	2	853	c.733G>A	c.(733-735)Gac>Aac	p.D245N	KCNG4_ENST00000308251.4_Missense_Mutation_p.D245N			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	245						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GCCCTGAGGTCGGGCATGGTG	0.642000													14	12					0	0	0.000422831	0	0
CYP2C9	1559	broad.mit.edu	37	10	96748693	96748693	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:96748693C>T	ENST00000260682.6	+	9	1393	c.1381C>T	c.(1381-1383)Ctg>Ttg	p.L461L		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	461					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)	CCTGAAATCTCTGGTTGACCC	0.478000													25	22					0	0	0.000586117	0	0
DNAJC6	9829	broad.mit.edu	37	1	65858517	65858517	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:65858517C>T	ENST00000395325.3	+	12	1858	c.1701C>T	c.(1699-1701)acC>acT	p.T567T	DNAJC6_ENST00000371069.4_Silent_p.T624T|DNAJC6_ENST00000263441.7_Silent_p.T554T	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	567	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CCACCTCCACCTCTGCGTCTC	0.517000													18	21					0	0	0.000175454	0	0
CHD4	1108	broad.mit.edu	37	12	6709001	6709001	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:6709001G>A	ENST00000309577.6	-	10	1583	c.1420C>T	c.(1420-1422)Cac>Tac	p.H474Y	CHD4_ENST00000544040.1_Missense_Mutation_p.H467Y|CHD4_ENST00000357008.2_Missense_Mutation_p.H474Y|CHD4_ENST00000544484.1_Missense_Mutation_p.H471Y			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	474					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						TTCAGGCAGTGGATGTGGTAG	0.542000													31	41					0	0	0.00058488	0	0
PLXNA1	5361	broad.mit.edu	37	3	126708282	126708282	+	Silent	SNP	C	C	T	rs146246704		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:126708282C>T	ENST00000251772.4	+	1	846	c.777C>T	c.(775-777)atC>atT	p.I259I	PLXNA1_ENST00000393409.2_Silent_p.I282I			Q9UIW2	PLXA1_HUMAN	plexin A1	282	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGTCCAAGATCGTGCGGCTCT	0.602000													55	93					0	0	0.000147903	0	0
HECTD4	283450	broad.mit.edu	37	12	112638535	112638535	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:112638535G>A	ENST00000550722.1	-	55	8431	c.8036C>T	c.(8035-8037)cCt>cTt	p.P2679L	HECTD4_ENST00000430131.2_Missense_Mutation_p.P2403L|HECTD4_ENST00000377560.5_Missense_Mutation_p.P2653L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CATGTCAATAGGATACCAGTA	0.483000													34	31					0	0	0.000132358	0	0
CYP1A1	1543	broad.mit.edu	37	15	75012979	75012979	+	Missense_Mutation	SNP	G	G	A	rs41279188	byFrequency	TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:75012979G>A	ENST00000379727.3	-	7	1588	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	CYP1A1_ENST00000395049.4_Missense_Mutation_p.R435C|CYP1A1_ENST00000395048.2_Missense_Mutation_p.R464C|CYP1A1_ENST00000567032.1_Missense_Mutation_p.R464C			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	464			R -> C (in allele CYP1A1*9).|R -> S (in allele CYP1A1*5; dbSNP:rs41279188).		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)	ACCTCCCAGCGGGCAATGGTC	0.542000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				45	33					0	0	0.000437636	0	0
CLIP1	6249	broad.mit.edu	37	12	122862061	122862061	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:122862061C>T	ENST00000358808.2	-	3	686	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	CLIP1_ENST00000537178.1_Missense_Mutation_p.E178K|CLIP1_ENST00000361654.4_Missense_Mutation_p.E178K|CLIP1_ENST00000302528.7_Missense_Mutation_p.E178K|CLIP1_ENST00000540338.1_Missense_Mutation_p.E178K	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	178	Ser-rich.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GCTGAAGGTTCCTTTGCTGCT	0.512000													93	90					0	0	0.000147903	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331823	100331823	+	RNA	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:100331823G>A	ENST00000341853.1	-	0	2368					NR_003260.1																						CAACCCAGAGGACCTGGAGAG	0.607000													15	28					0	0	0.000422831	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101438504	101438504	+	RNA	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:101438504C>T	ENST00000554693.2	+	0	299				SNORD114-14_ENST00000362723.1_RNA																							GTCTAGAACTCTGAGGTCCAA	0.403000													17	20					0	0	7.07596e-05	0	0
MAP4K1	11184	broad.mit.edu	37	19	39100288	39100288	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:39100288G>A	ENST00000591517.1	-	13	982	c.954C>T	c.(952-954)atC>atT	p.I318I	MAP4K1_ENST00000396857.2_Silent_p.I318I|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000586296.1_Silent_p.I318I|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589130.1_Silent_p.I314I	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	318					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGGTGGATCTGATCCGCCGAG	0.607000													7	21					0	0	0.000274275	0	0
INTS8	55656	broad.mit.edu	37	8	95844400	95844400	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:95844400C>A	ENST00000523731.1	+	6	884	c.751C>A	c.(751-753)Cag>Aag	p.Q251K	INTS8_ENST00000447247.1_Missense_Mutation_p.Q251K	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	251					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AATGCAGTGCCAGGTATTCAT	0.353000													8	193					0.000157383	0.00268393	0.000157383	1	0
VRK2	7444	broad.mit.edu	37	2	58358966	58358966	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:58358966G>A	ENST00000435505.2	+	12	1445	c.700G>A	c.(700-702)Gag>Aag	p.E234K	VRK2_ENST00000340157.4_Missense_Mutation_p.E234K|VRK2_ENST00000417641.2_Missense_Mutation_p.E234K|VRK2_ENST00000440705.2_Missense_Mutation_p.E211K|VRK2_ENST00000412104.2_Missense_Mutation_p.E234K			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	234	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						AAGTGACGTTGAGATCCTCGG	0.468000													23	40					0	0	0.00047179	0	0
OR4E2	26686	broad.mit.edu	37	14	22133916	22133916	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:22133916C>T	ENST00000408935.1	+	1	620	c.620C>T	c.(619-621)tCc>tTc	p.S207F		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	207					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)		GGAACCATCTCCCTCTCCTGT	0.493000													17	36					0	0	0.000566183	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040675	147040675	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:147040675C>T	ENST00000265272.5	-	3	930	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E113K|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E155K	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	155						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCAATTTCCTGTAAGAGC	0.552000													58	81					0	0	0.000147903	0	0
MMP24	10893	broad.mit.edu	37	20	33842501	33842501	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:33842501G>A	ENST00000246186.6	+	4	846	c.761G>A	c.(760-762)gGa>gAa	p.G254E	MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000454184.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	254					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGGATTGGAGGAGACACCCAC	0.552000													52	53					0	0	0.000147903	0	0
KCNH5	27133	broad.mit.edu	37	14	63447592	63447592	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:63447592C>T	ENST00000322893.7	-	6	1208	c.940G>A	c.(940-942)Gag>Aag	p.E314K	KCNH5_ENST00000394968.1_Missense_Mutation_p.E256K|KCNH5_ENST00000394964.2_Missense_Mutation_p.E256K|KCNH5_ENST00000420622.2_Missense_Mutation_p.E314K	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	314					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)		AAACTTACCTCATCCACATTT	0.363000													14	25					0	0	0.000422831	0	0
CDH8	1006	broad.mit.edu	37	16	61687766	61687766	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:61687766G>A	ENST00000577390.1	-	12	3100	c.2146C>T	c.(2146-2148)Cca>Tca	p.P716S	CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	716					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P716S(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACACCATTTGGAACTGGAGCA	0.413000													24	42					0	0	0.000375601	0	0
TACC2	10579	broad.mit.edu	37	10	123845365	123845365	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:123845365T>A	ENST00000369005.1	+	4	3690	c.3350T>A	c.(3349-3351)tTc>tAc	p.F1117Y	TACC2_ENST00000453444.2_Missense_Mutation_p.F1117Y|TACC2_ENST00000515603.1_Missense_Mutation_p.F1117Y|TACC2_ENST00000334433.3_Missense_Mutation_p.F1117Y|TACC2_ENST00000515273.1_Missense_Mutation_p.F1117Y|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1117						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTGCAAGTTTCCCATCAGCT	0.617000													15	43					0	0	0.000422831	0	0
CBX8	57332	broad.mit.edu	37	17	77769030	77769030	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:77769030G>A	ENST00000269385.4	-	5	691	c.574C>T	c.(574-576)Ccg>Tcg	p.P192S		NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	192					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTGTCCCCCGGTGAGCTGGGC	0.667000													11	30					0	0	0.00010058	0	0
COL5A1	1289	broad.mit.edu	37	9	137622286	137622286	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:137622286C>T	ENST00000371817.3	+	7	1543	c.1129C>T	c.(1129-1131)Ccc>Tcc	p.P377S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	377	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)		GGCCGAAATTCCCACCAGCAC	0.617000													29	9					0	0	0.000279167	0	0
ASTN2	23245	broad.mit.edu	37	9	119204829	119204829	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:119204829G>A	ENST00000313400.4	-	21	3601	c.3501C>T	c.(3499-3501)ttC>ttT	p.F1167F	ASTN2_ENST00000361477.3_Silent_p.F219F|ASTN2_ENST00000361209.2_Silent_p.F1116F|ASTN2_ENST00000288520.5_Silent_p.F268F|ASTN2_ENST00000373996.3_Silent_p.F1163F|ASTN2_ENST00000341734.4_Silent_p.F219F			O75129	ASTN2_HUMAN	astrotactin 2	1167	Fibronectin type-III.					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						CATACAGAGTGAACCTGCAGC	0.547000													26	6					0	0	0.000586117	0	0
EXOC5	10640	broad.mit.edu	37	14	57710979	57710979	+	Silent	SNP	G	G	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:57710979G>T	ENST00000413566.2	-	4	728	c.369C>A	c.(367-369)ccC>ccA	p.P123P	EXOC5_ENST00000340918.7_Intron|EXOC5_ENST00000556911.1_5'UTR	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	123					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						CCCGTTGTCTGGGTGTGTTTA	0.398000													6	95					0.000157383	0.00268393	0.000157383	1	0
PCDH8	5100	broad.mit.edu	37	13	53420893	53420893	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr13:53420893G>A	ENST00000377942.3	-	1	1882	c.1679C>T	c.(1678-1680)gCc>gTc	p.A560V	PCDH8_ENST00000338862.4_Missense_Mutation_p.A560V	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	560	Cadherin 5.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGCGTAGATGGCTCCGGTAGC	0.687000													8	7					0	0	0.000442599	0	0
CACNA1E	777	broad.mit.edu	37	1	181724450	181724450	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:181724450C>T	ENST00000526775.1	+	27	4014	c.3849C>T	c.(3847-3849)atC>atT	p.I1283I	CACNA1E_ENST00000367567.4_Silent_p.I909I|CACNA1E_ENST00000358338.5_Silent_p.I1234I|CACNA1E_ENST00000357570.5_Silent_p.I1253I|CACNA1E_ENST00000367570.1_Silent_p.I1302I|CACNA1E_ENST00000360108.3_Silent_p.I1283I|CACNA1E_ENST00000367573.2_Silent_p.I1302I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1302					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						TCATGTTCATCTTTGCTGTCA	0.483000													47	74					0	0	0.000147903	0	0
CLASP1	23332	broad.mit.edu	37	2	122165191	122165191	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:122165191G>A	ENST00000263710.4	-	25	2914	c.2525C>T	c.(2524-2526)tCc>tTc	p.S842F	CLASP1_ENST00000397587.3_Missense_Mutation_p.S822F|CLASP1_ENST00000455322.2_Missense_Mutation_p.S814F|CLASP1_ENST00000541377.1_Missense_Mutation_p.S820F|CLASP1_ENST00000409078.3_Missense_Mutation_p.S814F|CLASP1_ENST00000545861.1_Missense_Mutation_p.S589F|CLASP1_ENST00000541859.1_Missense_Mutation_p.S575F	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	842					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					ACCATTCCTGGAGCCATATGA	0.493000													50	50					0	0	0.000147903	0	0
PTCHD2	57540	broad.mit.edu	37	1	11589855	11589855	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:11589855C>T	ENST00000294484.6	+	15	3079	c.2941C>T	c.(2941-2943)Cgt>Tgt	p.R981C	PTCHD2_ENST00000389575.3_Missense_Mutation_p.R981C	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	981					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)		GCCCAAGGCCCGTCTCTCAGC	0.647000													22	22					0	0	0.000295444	0	0
BDP1	55814	broad.mit.edu	37	5	70819834	70819834	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:70819834C>T	ENST00000358731.4	+	25	5719	c.5456C>T	c.(5455-5457)tCt>tTt	p.S1819F	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1819					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACTATCTCTTCTACATCTGAG	0.388000													37	42					0	0	0.000191422	0	0
MED12L	116931	broad.mit.edu	37	3	150908650	150908650	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:150908650C>T	ENST00000474524.1	+	13	1938	c.1900C>T	c.(1900-1902)Cgg>Tgg	p.R634W	MED12L_ENST00000273432.4_Missense_Mutation_p.R494W|MED12L_ENST00000309237.4_Missense_Mutation_p.R634W|MED12L_ENST00000422248.2_Missense_Mutation_p.R634W	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	634					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGCCTCAACTCGGCCGCGGTC	0.517000													18	42					0	0	9.7654e-05	0	0
FBXO42	54455	broad.mit.edu	37	1	16583245	16583245	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:16583245G>A	ENST00000375592.3	-	5	728	c.512C>T	c.(511-513)cCt>cTt	p.P171L		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	171										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TTTGGGGGAAGGATAGGACCC	0.522000													15	17					0	0	7.07596e-05	0	0
TTN	7273	broad.mit.edu	37	2	179582773	179582773	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:179582773G>A	ENST00000589042.1	-	86	25184	c.24960C>T	c.(24958-24960)tcC>tcT	p.S8320S	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.S8003S|TTN_ENST00000342992.6_Silent_p.S7076S|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8003	Ig-like 65.						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)			TGATTACTAAGGAAGCAACGT	0.408000													11	28					0	0	6.40141e-05	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717494	222717494	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:222717494T>C	ENST00000343410.6	-	2	417	c.359A>G	c.(358-360)gAa>gGa	p.E120G		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	120					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CTGGGTGTTTTCGGCGTCGTA	0.567000													139	171					0	0	0.000147903	0	0
TM4SF18	116441	broad.mit.edu	37	3	149042780	149042780	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:149042780G>A	ENST00000296059.2	-	4	562	c.297C>T	c.(295-297)ctC>ctT	p.L99L	TM4SF18_ENST00000470080.1_Silent_p.L99L|RP11-206M11.7_ENST00000489011.1_RNA	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	99						integral to membrane				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AAGCAATTCCGAGGGAAGAAA	0.433000													8	21					0	0	0.000442599	0	0
CMPK2	129607	broad.mit.edu	37	2	6991691	6991691	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:6991691G>A	ENST00000256722.5	-	4	1115	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	CMPK2_ENST00000458098.1_Intron|CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000404168.1_Silent_p.I372I	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	372					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGAGCAGCAGGATAAGGTCAG	0.597000													39	63					0	0	0.000319135	0	0
ARSH	347527	broad.mit.edu	37	X	2933378	2933378	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chrX:2933378G>A	ENST00000381130.2	+	4	708	c.708G>A	c.(706-708)atG>atA	p.M236I		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	236						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		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)				AGCAGCCAATGAAAGAGGAGA	0.408000													18	1					0	0	9.7654e-05	0	0
PID1	55022	broad.mit.edu	37	2	229890519	229890519	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:229890519C>T	ENST00000392054.3	-	4	915	c.576G>A	c.(574-576)caG>caA	p.Q192Q	PID1_ENST00000392055.3_Silent_p.Q161Q|PID1_ENST00000409462.1_Silent_p.Q112Q|PID1_ENST00000354069.6_Silent_p.Q194Q|PID1_ENST00000482518.2_Intron	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	194	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)		GGCAGTCCATCTGGTAGGACA	0.587000													32	43					0	0	0.000409698	0	0
LGI2	55203	broad.mit.edu	37	4	25005432	25005432	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:25005432G>A	ENST00000382114.4	-	8	1464	c.1279C>T	c.(1279-1281)Cga>Tga	p.R427*		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	427						extracellular region		p.R427*(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TTTTGCATTCGGAAGCTCTTC	0.522000													93	115					0	0	0.000147903	0	0
MEP1A	4224	broad.mit.edu	37	6	46803091	46803091	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:46803091C>T	ENST00000230588.4	+	13	1898	c.1889C>T	c.(1888-1890)tCg>tTg	p.S630L		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	630					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.S630L(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GAAGAAGGTTCGGGAAAGGCC	0.607000													12	24					0	0	0.00010058	0	0
PCDH17	27253	broad.mit.edu	37	13	58207873	58207873	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr13:58207873G>A	ENST00000377918.3	+	1	1219	c.1193G>A	c.(1192-1194)gGc>gAc	p.G398D		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	398	Cadherin 4.|Gly-rich.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGAGGGAcgggcggcggcggg	0.697000													4	7					0	0	0.00024832	0	0
ZNF733P	643955	broad.mit.edu	37	7	62758710	62758710	+	RNA	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:62758710C>T	ENST00000331425.6	-	0	167					NR_003952.1																						TGAGCACAATCCAGGCATTGC	0.393000													14	19					0	0	0.000422831	0	0
TNXB	7148	broad.mit.edu	37	6	32010368	32010368	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:32010368G>A	ENST00000375244.3	-	40	12275	c.12074C>T	c.(12073-12075)cCc>cTc	p.P4025L	TNXB_ENST00000375247.2_Missense_Mutation_p.P4023L|TNXB_ENST00000451343.1_Missense_Mutation_p.P454L			P22105	TENX_HUMAN	tenascin XB	4070	Fibronectin type-III 32.				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						CCTGGGGAAGGGGATCCGCAG	0.701000													74	208					0	0	0.000147903	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128839225	128839225	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:128839225C>G	ENST00000310343.9	-	22	5840	c.5841G>C	c.(5839-5841)gaG>gaC	p.E1947D	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E1598D|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E1598D	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1947	Interaction with FYN.				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						GTCGCTCCATCTCTTTGGAGA	0.517000													40	38					0	0	0.000374591	0	0
PAPPA2	60676	broad.mit.edu	37	1	176734898	176734898	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:176734898C>T	ENST00000367662.3	+	15	5412	c.4248C>T	c.(4246-4248)ctC>ctT	p.L1416L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1416	Sushi 1.				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						GCCCAGGTCTCATGAAGTGTG	0.527000													45	48					0	0	0.000125731	0	0
OR2B2	81697	broad.mit.edu	37	6	27879792	27879792	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:27879792G>A	ENST00000303324.2	-	1	382	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						CCAGGAAAATGAAAAGCTGGG	0.448000													59	28					0	0	0.000147903	0	0
KRT23	25984	broad.mit.edu	37	17	39092540	39092540	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:39092540T>G	ENST00000209718.3	-	2	740	c.316A>C	c.(316-318)Aaa>Caa	p.K106Q	KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	106	Coil 1A.|Rod.					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)				TGGTGCCATTTCAGGATGCGG	0.547000													88	57					0	0	0.000147903	0	0
NPY2R	4887	broad.mit.edu	37	4	156135508	156135508	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:156135508C>T	ENST00000329476.3	+	2	906	c.417C>T	c.(415-417)atC>atT	p.I139I	NPY2R_ENST00000506608.1_Silent_p.I139I	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	139					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)				TATCCACAATCACCTTGACAG	0.527000													14	21					0	0	0.000308642	0	0
MUC5B	727897	broad.mit.edu	37	11	1268950	1268950	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:1268950G>A	ENST00000447027.1	+	31	10907	c.10849G>A	c.(10849-10851)Ggc>Agc	p.G3617S	MUC5B_ENST00000529681.1_Missense_Mutation_p.G3614S|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3614	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCAGCCCCTGGGCCTCGAGTG	0.682000													30	7					0	0	0.000491102	0	0
AFF3	3899	broad.mit.edu	37	2	100199260	100199260	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:100199260C>T	ENST00000317233.4	-	16	3028	c.2793_splice	c.e16+1	p.T931_splice	AFF3_ENST00000409236.1_Splice_Site_p.T931_splice|AFF3_ENST00000409579.1_Splice_Site_p.T956_splice|AFF3_ENST00000356421.2_Splice_Site_p.T956_splice	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	931					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						ATCAACAAACCGTGAGGTCTC	0.498000													29	41					0	0	0.000279167	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034594	52034594	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:52034594C>T	ENST00000346477.3	-	2	315	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SIGLEC6_ENST00000425629.3_Missense_Mutation_p.E83K|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.E83K|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.E83K|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.E47K|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.E83K	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	83	Ig-like V-type.				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)		TGCACTTCTTCGTCTGGGTCG	0.582000													23	37					0	0	0.000229342	0	0
CLP1	10978	broad.mit.edu	37	11	57428555	57428555	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:57428555C>T	ENST00000533682.1	+	3	1650	c.925C>T	c.(925-927)Cga>Tga	p.R309*	CLP1_ENST00000529430.1_Nonsense_Mutation_p.R320*|CLP1_ENST00000302731.4_Nonsense_Mutation_p.R245*|CLP1_ENST00000525602.1_Nonsense_Mutation_p.R309*			Q92989	CLP1_HUMAN	cleavage and polyadenylation factor I subunit 1	309					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						TTATGGATTCCGAGGCTGTTT	0.502000													80	91					0	0	0.000147903	0	0
SERPINE2	5270	broad.mit.edu	37	2	224856569	224856569	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:224856569C>T	ENST00000409840.3	-	5	1296	c.636G>A	c.(634-636)ggG>ggA	p.G212G	SERPINE2_ENST00000258405.4_Silent_p.G212G|SERPINE2_ENST00000447280.2_Silent_p.G224G|SERPINE2_ENST00000409304.1_Silent_p.G212G			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	212					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GATAGGATTTCCCGTCGGCTG	0.547000													13	29					0	0	0.000219431	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15881883	15881883	+	RNA	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:15881883G>A	ENST00000587443.2	-	0	1014					NR_033864.1																						AGTGGGAAGGGTATGGCGCCG	0.537000													26	35					0	0	9.22233e-05	0	0
INMT	11185	broad.mit.edu	37	7	30795310	30795310	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:30795310C>T	ENST00000013222.5	+	3	651	c.635C>T	c.(634-636)tCc>tTc	p.S212F	INMT_ENST00000484180.1_3'UTR|INMT_ENST00000409539.1_Missense_Mutation_p.S211F|INMT-FAM188B_ENST00000458257.1_Intron	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	212						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CGTGAATTTTCCTGCGTGGCC	0.597000													23	16					0	0	0.000375601	0	0
CHD7	55636	broad.mit.edu	37	8	61769341	61769341	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:61769341C>T	ENST00000423902.2	+	34	7981	c.7502C>T	c.(7501-7503)tCc>tTc	p.S2501F	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2501					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)			CTTAATGGCTCCCTAGTGGAT	0.517000													50	66					0	0	0.000147903	0	0
CAPN13	92291	broad.mit.edu	37	2	30976031	30976031	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:30976031G>A	ENST00000295055.8	-	10	1151	c.975C>T	c.(973-975)atC>atT	p.I325I	CAPN13_ENST00000534090.2_Silent_p.I325I	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	325	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.I325I(1)		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)					TAAACATGGCGATGAATTTCT	0.438000													25	65					0	0	0.000586117	0	0
SELL	6402	broad.mit.edu	37	1	169660933	169660933	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:169660933G>A	ENST00000236147.4	-	9	1310	c.1150C>T	c.(1150-1152)Cca>Tca	p.P384S	C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	371					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					ATTTAATATGGGTCATTCATA	0.323000													8	11					0	0	0.000442599	0	0
MOCS3	27304	broad.mit.edu	37	20	49576218	49576218	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:49576218C>T	ENST00000244051.1	+	1	856	c.839C>T	c.(838-840)gCc>gTc	p.A280V		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	280					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						CTCTTTGATGCCCTGAGAGGG	0.607000													21	19					0	0	0.000295444	0	0
PHLDB2	90102	broad.mit.edu	37	3	111602917	111602917	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:111602917G>A	ENST00000393923.3	+	3	329	c.74G>A	c.(73-75)aGc>aAc	p.S25N	PHLDB2_ENST00000412622.1_5'UTR|PHLDB2_ENST00000431670.2_5'UTR|PHLDB2_ENST00000393925.3_5'UTR|PHLDB2_ENST00000481953.1_5'UTR|PHLDB2_ENST00000478922.1_5'UTR|PHLDB2_ENST00000477695.1_5'UTR	NM_001134437.1	NP_001127909.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	0						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ACAGATTCCAGCAAGATTATG	0.358000													39	72					0	0	0.000374591	0	0
CSF2RB	1439	broad.mit.edu	37	22	37326699	37326699	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:37326699C>T	ENST00000262825.5	+	8	1074	c.857C>T	c.(856-858)tCt>tTt	p.S286F	CSF2RB_ENST00000406230.1_Missense_Mutation_p.S286F|CSF2RB_ENST00000403662.3_Intron|CSF2RB_ENST00000536485.1_Missense_Mutation_p.S227F	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	285					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)	GCCCTCAGCTCTGCTGTGCTC	0.677000													7	17					0	0	8.12818e-05	0	0
CLINT1	9685	broad.mit.edu	37	5	157240099	157240099	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:157240099G>A	ENST00000523094.1	-	5	640	c.435C>T	c.(433-435)tcC>tcT	p.S145S	CLINT1_ENST00000523908.1_Silent_p.S163S|CLINT1_ENST00000530742.1_Silent_p.S145S|CLINT1_ENST00000296951.5_Silent_p.S145S|CLINT1_ENST00000411809.2_Silent_p.S163S	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	163	ENTH.				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACTGTCTGAGGAAACCCCAA	0.413000													38	50					0	0	0.000437636	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691202	18691202	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:18691202A>T	ENST00000433979.1	+	24	3429	c.3313A>T	c.(3313-3315)Att>Ttt	p.I1105F	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.I1146F|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.I1105F	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1105	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGCTTATAATATTATCAGAAA	0.363000													7	12					0	0	8.12818e-05	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559699	44559699	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr18:44559699G>A	ENST00000332567.4	-	1	2289	c.1937C>T	c.(1936-1938)tCt>tTt	p.S646F	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	646	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						CTTGGCCACAGATTTGAAACA	0.542000													68	167					0	0	0.000147903	0	0
MYH1	4619	broad.mit.edu	37	17	10415777	10415777	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:10415777C>T	ENST00000226207.5	-	12	1189	c.1095G>A	c.(1093-1095)atG>atA	p.M365I	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	365	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						GCTTGAATTTCATGTTCCCAT	0.433000													34	4					0	0	0.000409698	0	0
LAMA3	3909	broad.mit.edu	37	18	21481141	21481141	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr18:21481141G>A	ENST00000313654.9	+	48	6296	c.6055G>A	c.(6055-6057)Ggg>Agg	p.G2019R	LAMA3_ENST00000587184.1_Missense_Mutation_p.G354R|LAMA3_ENST00000399516.3_Missense_Mutation_p.G1963R|LAMA3_ENST00000269217.6_Missense_Mutation_p.G410R|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2019	Domain II and I.				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)	GGAGAACAATGGGCTTGCTAA	0.498000													17	54					0	0	0.000175454	0	0
SBNO1	55206	broad.mit.edu	37	12	123804514	123804514	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:123804514G>A	ENST00000420886.2	-	19	2731	c.2732C>T	c.(2731-2733)tCt>tTt	p.S911F	SBNO1_ENST00000602398.1_Missense_Mutation_p.S911F|SBNO1_ENST00000602750.1_Missense_Mutation_p.S910F|SBNO1_ENST00000267176.4_Missense_Mutation_p.S910F	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	911							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATCAAGTTCAGATCTTGACTC	0.398000													37	48					0	0	0.000132358	0	0
TMEM184A	202915	broad.mit.edu	37	7	1586593	1586593	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:1586593G>A	ENST00000297477.5	-	9	1553	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	413						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CCCCCCTACAGGTCCTCCGAG	0.716000													9	11					0	0	3.86212e-05	0	0
NCOA6	23054	broad.mit.edu	37	20	33364129	33364129	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:33364129G>A	ENST00000374796.2	-	5	2928	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	NCOA6_ENST00000359003.2_Missense_Mutation_p.R120W			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	120	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CCTAAATCCCGAAGCTGCTGG	0.498000													18	47					0	0	0.000132079	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50186672	50186672	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:50186672C>T	ENST00000335999.6	-	11	3639	c.3438G>A	c.(3436-3438)aaG>aaA	p.K1146K		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1142	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GTGGCTTGGTCTTAGGAAGAT	0.657000													12	8					0	0	6.40141e-05	0	0
TRRAP	8295	broad.mit.edu	37	7	98554098	98554098	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:98554098C>T	ENST00000359863.4	+	42	6361	c.6152C>T	c.(6151-6153)tCc>tTc	p.S2051F	TRRAP_ENST00000446306.3_Missense_Mutation_p.S2032F|TRRAP_ENST00000355540.3_Missense_Mutation_p.S2033F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2051	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGAGGCCTGTCCGTGGATTCT	0.517000													30	13					0	0	0.000339439	0	0
KALRN	8997	broad.mit.edu	37	3	124103703	124103703	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:124103703C>T	ENST00000360013.3	+	11	1903	c.1776C>T	c.(1774-1776)acC>acT	p.T592T	KALRN_ENST00000460856.1_Silent_p.T592T|KALRN_ENST00000240874.3_Silent_p.T592T	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	592					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATACGTACACCAATGCGGACA	0.607000													15	25					0	0	0.000308642	0	0
ABCA12	26154	broad.mit.edu	37	2	215919365	215919365	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:215919365T>C	ENST00000272895.7	-	4	560	c.341A>G	c.(340-342)aAc>aGc	p.N114S		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	114					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTATCCAGGTTGGATGACTT	0.388000													21	9					0	0	0.000295444	0	0
HTN3	3347	broad.mit.edu	37	4	70898915	70898915	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:70898915C>T	ENST00000530128.1	+	5	209	c.134C>T	c.(133-135)tCa>tTa	p.S45L	HTN3_ENST00000381057.3_Missense_Mutation_p.S35L|HTN3_ENST00000526767.1_Missense_Mutation_p.S45L			P15516	HIS3_HUMAN	histatin 3	45					biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	8						GGCTATAGATCAAATTATCTG	0.373000													5	15					0	0	1.23904e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9090826	9090826	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:9090826G>A	ENST00000397910.4	-	1	1192	c.989C>T	c.(988-990)tCc>tTc	p.S330F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	330	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						TAGTGTCATGGAAAAAGGGAT	0.527000													30	47					0	0	0.000147802	0	0
EPHA7	2045	broad.mit.edu	37	6	93956640	93956640	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:93956640G>A	ENST00000369303.4	-	15	2780	c.2596C>T	c.(2596-2598)Cac>Tac	p.H866Y		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	866	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)		ATTAGCTGGTGAAGGCCAGCT	0.393000													18	29					0	0	9.7654e-05	0	0
HINT2	84681	broad.mit.edu	37	9	35813318	35813318	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:35813318G>A	ENST00000259667.5	-	4	386	c.345C>T	c.(343-345)ctC>ctT	p.L115L	HINT2_ENST00000474908.1_5'UTR	NM_032593.2	NP_115982.1	Q9BX68	HINT2_HUMAN	histidine triad nucleotide binding protein 2	115	HIT.				apoptosis|steroid biosynthetic process	mitochondrion	hydrolase activity			NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			TGGCCACAAGGAGTAGGTGTC	0.547000											OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	92	63					0	0	0.000147903	0	0
GRIA1	2890	broad.mit.edu	37	5	153085397	153085397	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:153085397C>T	ENST00000285900.5	+	11	1936	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F	GRIA1_ENST00000448073.4_Silent_p.F541F|GRIA1_ENST00000521843.2_Silent_p.F462F|GRIA1_ENST00000518142.1_Silent_p.F451F|GRIA1_ENST00000518783.1_Silent_p.F541F|GRIA1_ENST00000340592.5_Silent_p.F531F	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	531					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)	TCTTCTCCTTCCTTGATCCTT	0.433000													49	63					0	0	0.000147903	0	0
CYTIP	9595	broad.mit.edu	37	2	158290911	158290911	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:158290911C>T	ENST00000264192.3	-	3	371	c.250G>A	c.(250-252)Gat>Aat	p.D84N	CYTIP_ENST00000497432.1_5'UTR|CYTIP_ENST00000540637.1_5'UTR	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	84	PDZ.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GTTTCATTATCCTGCTTCTCC	0.333000													48	36					0	0	0.000147903	0	0
ADH1B	125	broad.mit.edu	37	4	100235017	100235017	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:100235017C>T	ENST00000305046.8	-	6	856	c.789G>A	c.(787-789)gtG>gtA	p.V263V	ADH1B_ENST00000394887.3_Silent_p.V223V			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	263					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	ACGAAAAATCCACACCTCCAT	0.468000													72	104					0	0	0.000147903	0	0
A2M	2	broad.mit.edu	37	12	9231867	9231867	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:9231867C>T	ENST00000318602.7	-	25	3399	c.3092G>A	c.(3091-3093)cGa>cAa	p.R1031Q	A2M_ENST00000542567.1_5'UTR	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1031					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CCTGCCATATCGCTCCCCAAA	0.413000													26	33					0	0	0.000147802	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998636	8998636	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:8998636G>A	ENST00000310455.3	-	2	676	c.526C>T	c.(526-528)Cct>Tct	p.P176S	PPP1R3B_ENST00000519699.1_Missense_Mutation_p.P176S	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	176	CBM21.				glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		TACTGACAAGGAAAGTCTGTG	0.483000													77	81					0	0	0.000147903	0	0
OR2T34	127068	broad.mit.edu	37	1	248737333	248737333	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:248737333G>A	ENST00000328782.2	-	1	747	c.726C>T	c.(724-726)gcC>gcT	p.A242A		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGTGGCCAAGGCCTTCCTGC	0.567000													39	82					0	0	0.000374591	0	0
DNAH8	1769	broad.mit.edu	37	6	38834374	38834374	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:38834374G>A	ENST00000359357.3	+	44	6109	c.5855G>A	c.(5854-5856)gGa>gAa	p.G1952E	DNAH8_ENST00000449981.2_Missense_Mutation_p.G2169E|DNAH8_ENST00000441566.1_Missense_Mutation_p.G1952E					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						TAGAACCCTGGATATGCTGGG	0.318000													21	58					0	0	0.000175454	0	0
OR52E2	119678	broad.mit.edu	37	11	5079910	5079910	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:5079910C>T	ENST00000321522.2	-	1	947	c.948G>A	c.(946-948)aaG>aaA	p.K316K		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	316					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)		GGTACTCTTCCTTTTCCATTC	0.338000													25	38					0	0	0.000586117	0	0
ABCC9	10060	broad.mit.edu	37	12	22046965	22046965	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:22046965C>T	ENST00000261200.4	-	12	1802		c.e12+1		ABCC9_ENST00000345162.2_Splice_Site|ABCC9_ENST00000261201.4_Splice_Site	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9						defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCAGTGCATACCTTATGATGG	0.398000													12	12					0	0	0.00010058	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	C	rs121913377		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:140453136A>C	ENST00000288602.6	-	15	1859	c.1799T>G	c.(1798-1800)gTg>gGg	p.V600G		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				63	11					0	0	0.000147903	0	0
ELMO2	63916	broad.mit.edu	37	20	45012104	45012104	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:45012104A>G	ENST00000372176.1	-	10	911	c.443T>C	c.(442-444)aTt>aCt	p.I148T	ELMO2_ENST00000290246.6_Missense_Mutation_p.I236T|ELMO2_ENST00000445496.2_Missense_Mutation_p.I53T|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000439931.2_Missense_Mutation_p.I236T|ELMO2_ENST00000396391.1_Missense_Mutation_p.I236T|ELMO2_ENST00000352077.2_Missense_Mutation_p.I234T			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	236					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AATCAGTGCAATGGCGTAGGT	0.443000													62	80					0	0	0.000147903	0	0
BAZ2B	29994	broad.mit.edu	37	2	160242964	160242964	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:160242964C>T	ENST00000392783.2	-	22	3866	c.3371G>A	c.(3370-3372)gGa>gAa	p.G1124E	AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000355831.2_Missense_Mutation_p.G1090E|BAZ2B_ENST00000392782.1_Missense_Mutation_p.G1088E|BAZ2B_ENST00000343439.5_Missense_Mutation_p.G1024E	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1124	DDT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ATTTAGCAATCCCTCTTGAAG	0.433000													10	12					0	0	6.40141e-05	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891833	18891833	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:18891833G>A	ENST00000317658.3	+	1	789	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	211					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)				GGACCTGAAAGAAAGCTTGGA	0.398000													15	15					0	0	0.000422831	0	0
SCN7A	6332	broad.mit.edu	37	2	167297980	167297980	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:167297980C>T	ENST00000409855.1	-	14	2209	c.2083G>A	c.(2083-2085)Gac>Aac	p.D695N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	695					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCCATACAGTCCCACAAGGTC	0.428000													7	9					0	0	0.000274275	0	0
OPRD1	4985	broad.mit.edu	37	1	29189617	29189617	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:29189617A>G	ENST00000234961.2	+	3	1183	c.941A>G	c.(940-942)aAc>aGc	p.N314S		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	314					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	AGCAGCCTCAACCCCGTGCTC	0.672000													4	6					0	0	0.00024832	0	0
SYNGR1	9145	broad.mit.edu	37	22	39772070	39772070	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:39772070C>T	ENST00000328933.5	+	3	366	c.351C>T	c.(349-351)ttC>ttT	p.F117F	SYNGR1_ENST00000381535.4_Silent_p.F118F|SYNGR1_ENST00000318801.4_Silent_p.F117F|SYNGR1_ENST00000406293.3_Silent_p.F117F	NM_004711.4	NP_004702.2			synaptogyrin 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					TCTGGGCTTTCCTCTGGTTCG	0.632000													68	62					0	0	0.000147903	0	0
DNPEP	23549	broad.mit.edu	37	2	220250763	220250763	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:220250763G>A	ENST00000273075.4	-	6	737	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	DNPEP_ENST00000373972.1_Missense_Mutation_p.R98C|DNPEP_ENST00000523282.1_Missense_Mutation_p.R181C	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	163					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	TGTGGGATGCGAAGAATGGGC	0.632000													20	45					0	0	0.000295444	0	0
DNAH5	1767	broad.mit.edu	37	5	13931332	13931332	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:13931332C>T	ENST00000265104.4	-	2	183	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	27	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)					CGCTTGGCTTCCTTCTCTCCC	0.393000									Kartagener syndrome				25	40					0	0	0.000184323	0	0
CCDC63	160762	broad.mit.edu	37	12	111321968	111321968	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:111321968G>A	ENST00000308208.5	+	8	1230	c.988G>A	c.(988-990)Gag>Aag	p.E330K	CCDC63_ENST00000545036.1_Missense_Mutation_p.E290K|CCDC63_ENST00000552694.1_Missense_Mutation_p.E251K	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	330										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						TCTGGCCAAGGAGGAGAAGAA	0.532000													30	50					0	0	0.000409698	0	0
RYR3	6263	broad.mit.edu	37	15	34023823	34023823	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:34023823G>A	ENST00000389232.4	+	48	7422	c.7352G>A	c.(7351-7353)aGg>aAg	p.R2451K	RYR3_ENST00000415757.3_Missense_Mutation_p.R2451K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2451	4 X approximate repeats.				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)		ACAATATACAGGCTATCCAAG	0.468000													11	14					0	0	6.40141e-05	0	0
CIITA	4261	broad.mit.edu	37	16	10971230	10971230	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:10971230G>A	ENST00000324288.8	+	1	176	c.43G>A	c.(43-45)Gag>Aag	p.E15K	CIITA_ENST00000537380.1_3'UTR|RP11-876N24.2_ENST00000573071.1_RNA|RP11-876N24.2_ENST00000572017.1_RNA|CIITA_ENST00000381835.5_Missense_Mutation_p.E15K	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	15					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CTACCTGTCAGAGCCCCAAGG	0.572000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								6	13					0	0	8.12818e-05	0	0
PTPRD	5789	broad.mit.edu	37	9	8500893	8500893	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:8500893C>A	ENST00000381196.4	-	21	2532	c.1989G>T	c.(1987-1989)ttG>ttT	p.L663F	PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.L650F|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.L650F|PTPRD_ENST00000540109.1_Missense_Mutation_p.L663F|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.L663F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	663	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAGGAATTCCCAAAATCTCGT	0.483000										TSP Lung(15;0.13)			10	181					7.93312e-07	1.36143e-05	0.000219431	1	0
CCBL2	56267	broad.mit.edu	37	1	89420882	89420882	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:89420882T>C	ENST00000260508.4	-	9	1151	c.814A>G	c.(814-816)Aca>Gca	p.T272A	CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.T238A	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	272					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATTGTTATTGTTCTCTCCCAC	0.318000													35	37					0	0	0.000191422	0	0
PDE9A	5152	broad.mit.edu	37	21	44108041	44108041	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr21:44108041C>T	ENST00000291539.6	+	3	215	c.155C>T	c.(154-156)tCc>tTc	p.S52F	PDE9A_ENST00000398229.3_Missense_Mutation_p.S11F|PDE9A_ENST00000335440.6_Silent_p.L28L|PDE9A_ENST00000398234.3_Missense_Mutation_p.S11F|PDE9A_ENST00000328862.6_Intron|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000380328.2_Missense_Mutation_p.S52F|PDE9A_ENST00000335512.4_Missense_Mutation_p.S52F|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000398225.3_Missense_Mutation_p.S11F|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000539837.1_Missense_Mutation_p.S17F|PDE9A_ENST00000398232.3_Intron|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398224.3_Intron	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	52					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						ACGACCATCTCCCTGCTGACC	0.602000													19	27					0	0	0.000229342	0	0
TRUB2	26995	broad.mit.edu	37	9	131071999	131071999	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:131071999G>A	ENST00000372890.4	-	8	1159	c.826C>T	c.(826-828)Cta>Tta	p.L276L	TRUB2_ENST00000546104.1_Silent_p.L220L|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	276					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						ATGTTGGTTAGGTCCCACTGG	0.627000													17	5					0	0	9.7654e-05	0	0
NEURL1	9148	broad.mit.edu	37	10	105331330	105331330	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:105331330C>T	ENST00000369780.4	+	3	809	c.400C>T	c.(400-402)Cac>Tac	p.H134Y	NEURL_ENST00000369777.2_Missense_Mutation_p.H117Y	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		134	NHR 1.				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)		GTCCCGCATCCACCCTGACTC	0.662000													13	9					0	0	0.00010058	0	0
S100A7A	338324	broad.mit.edu	37	1	153391753	153391753	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:153391753G>A	ENST00000368729.4	+	3	331	c.274G>A	c.(274-276)Gga>Aga	p.G92R	S100A7A_ENST00000368728.2_Missense_Mutation_p.G92R|S100A7A_ENST00000329256.2_Missense_Mutation_p.G92R	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	92						cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGAGCCATGGAGCGGCGCC	0.532000													19	29					0	0	0.000132079	0	0
F2RL3	9002	broad.mit.edu	37	19	17000638	17000638	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:17000638G>A	ENST00000248076.3	+	2	694	c.364G>A	c.(364-366)Gac>Aac	p.D122N	F2RL3_ENST00000599210.1_3'UTR	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	122					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CGCGGCTGCTGACCTCCTGCT	0.751000													13	2					0	0	0.000219431	0	0
PACSIN1	29993	broad.mit.edu	37	6	34499545	34499545	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:34499545C>T	ENST00000538621.1	+	9	1451	c.1206C>T	c.(1204-1206)gaC>gaT	p.D402D	PACSIN1_ENST00000244458.2_Silent_p.D402D|PACSIN1_ENST00000374043.2_Silent_p.D360D	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	402	SH3.				endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AGGAGCAGGACGAGCTCAGCT	0.662000													38	137					0	0	0.000374591	0	0
KCNK1	3775	broad.mit.edu	37	1	233802610	233802610	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:233802610G>A	ENST00000366621.3	+	2	793	c.625G>A	c.(625-627)Gac>Aac	p.D209N	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.D93N	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	209						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CCTGGAGGATGACTGGAACTT	0.507000													44	64					0	0	0.000147903	0	0
MVB12A	93343	broad.mit.edu	37	19	17531349	17531349	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:17531349C>T	ENST00000317040.7	+	3	1247	c.192C>T	c.(190-192)aaC>aaT	p.N64N	MVB12A_ENST00000543795.1_Silent_p.N64N|CTD-2521M24.6_ENST00000593957.1_RNA|MVB12A_ENST00000392702.2_Silent_p.N64N|MVB12A_ENST00000529939.1_Silent_p.N64N|MVB12A_ENST00000528515.1_Silent_p.N64N					multivesicular body subunit 12A																		ACCCCCAGAACCCGCAGGAGA	0.667000													15	14					0	0	0.000422831	0	0
YKT6	10652	broad.mit.edu	37	7	44247782	44247782	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:44247782G>A	ENST00000223369.2	+	5	531	c.444G>A	c.(442-444)gaG>gaA	p.E148E	YKT6_ENST00000447123.1_3'UTR|YKT6_ENST00000496112.1_Silent_p.E148E	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN	YKT6 v-SNARE homolog (S. cerevisiae)	148	v-SNARE coiled-coil homology.				ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting	cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex	protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						AACTAGATGAGACCAAAATCA	0.502000													9	20					0	0	0.000442599	0	0
MLH1	4292	broad.mit.edu	37	3	37070385	37070385	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:37070385T>A	ENST00000231790.2	+	13	1736	c.1520T>A	c.(1519-1521)tTg>tAg	p.L507*	MLH1_ENST00000458205.2_Nonsense_Mutation_p.L266*|MLH1_ENST00000455445.2_Nonsense_Mutation_p.L266*|MLH1_ENST00000539477.1_Nonsense_Mutation_p.L266*|MLH1_ENST00000536378.1_Nonsense_Mutation_p.L266*|MLH1_ENST00000435176.1_Nonsense_Mutation_p.L409*	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	507	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						ACTAGTGTTTTGAGTCTCCAG	0.488000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				81	145					0	0	0.000147903	0	0
TTI2	80185	broad.mit.edu	37	8	33369706	33369706	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:33369706G>A	ENST00000431156.2	-	2	1044	c.426C>T	c.(424-426)ggC>ggT	p.G142G	TTI2_ENST00000360742.5_Silent_p.G142G|TTI2_ENST00000520636.1_Silent_p.G142G	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN	TELO2 interacting protein 2	142							binding										AGTGATGCAGGCCCGTCTGCC	0.532000													27	41					0	0	0.000586117	0	0
DDX52	11056	broad.mit.edu	37	17	35992205	35992205	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:35992205G>A	ENST00000349699.2	-	4	584	c.541C>T	c.(541-543)Cta>Tta	p.L181L	DDX52_ENST00000394367.3_Silent_p.L73L	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	181						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CCTGCATCTAGAATGTTCTGA	0.418000													89	51					0	0	0.000147903	0	0
LPAR3	23566	broad.mit.edu	37	1	85331580	85331580	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:85331580G>A	ENST00000440886.1	-	1	262	c.224C>T	c.(223-225)gCc>gTc	p.A75V	LPAR3_ENST00000370611.3_Missense_Mutation_p.A75V|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	75					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GAAGAAATCGGCAGCAGCTAA	0.418000													41	53					0	0	0.000191422	0	0
D2HGDH	728294	broad.mit.edu	37	2	242681921	242681921	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:242681921C>T	ENST00000321264.4	+	4	631	c.422C>T	c.(421-423)cCc>cTc	p.P141L	D2HGDH_ENST00000403782.1_Missense_Mutation_p.P7L|D2HGDH_ENST00000537090.1_Missense_Mutation_p.P141L|D2HGDH_ENST00000342518.6_Missense_Mutation_p.P141L	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	141	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GGCAGCGTCCCCGTCTTTGAC	0.652000													13	16					0	0	0.00010058	0	0
RGPD3	653489	broad.mit.edu	37	2	107041150	107041150	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:107041150C>A	ENST00000409886.3	-	20	3360	c.3273G>T	c.(3271-3273)gaG>gaT	p.E1091D	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1091D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1091	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGCCATTGACCTCGTTTTTGA	0.398000													133	157					1.30425e-93	2.2927e-92	0.000147903	1	0
IQUB	154865	broad.mit.edu	37	7	123104989	123104989	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:123104989G>A	ENST00000466202.1	-	10	2232	c.1656C>T	c.(1654-1656)gtC>gtT	p.V552V	IQUB_ENST00000434450.1_Silent_p.V552V|IQUB_ENST00000324698.6_Silent_p.V552V			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	552										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TATGATGTTTGACTCCTCTCA	0.323000													19	144					0	0	0.000295444	0	0
HPS1	3257	broad.mit.edu	37	10	100190926	100190926	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:100190926G>A	ENST00000325103.6	-	7	863	c.630C>T	c.(628-630)ttC>ttT	p.F210F	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.F210F|HPS1_ENST00000338546.5_Silent_p.F210F	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	210					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		GCACGAGCAGGAAGGCATGCA	0.627000									Hermansky-Pudlak syndrome				14	12					0	0	0.000219431	0	0
NOD2	64127	broad.mit.edu	37	16	50763758	50763758	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:50763758G>A	ENST00000300589.2	+	11	3101	c.2996G>A	c.(2995-2997)gGg>gAg	p.G999E		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	999					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)				ACCTACCTAGGGGCAGAAGCC	0.493000													16	22					0	0	0.000566183	0	0
OVCH1	341350	broad.mit.edu	37	12	29596314	29596314	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:29596314C>T	ENST00000318184.5	-	25	3136	c.3137G>A	c.(3136-3138)gGa>gAa	p.G1046E	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	1046					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTTTCCTGGTCCAAATCCTTC	0.348000													32	24					0	0	0.000109025	0	0
KDM2B	84678	broad.mit.edu	37	12	121880284	121880284	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:121880284G>A	ENST00000377069.4	-	18	3159	c.2753C>T	c.(2752-2754)cCc>cTc	p.P918L	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.P987L|KDM2B_ENST00000542973.1_Missense_Mutation_p.P355L	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	987					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GATGCCCGGGGGCCGCTTGGG	0.706000													12	14					0	0	0.00010058	0	0
FAT3	120114	broad.mit.edu	37	11	92543181	92543181	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:92543181C>T	ENST00000298047.6	+	12	9437	c.9420C>T	c.(9418-9420)gtC>gtT	p.V3140V	FAT3_ENST00000525166.1_Silent_p.V2990V|FAT3_ENST00000409404.2_Silent_p.V3140V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3140	Cadherin 29.				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)				ACACCTGTGTCTATGAGAACA	0.532000										TCGA Ovarian(4;0.039)			123	171					0	0	0.000147903	0	0
CA3	761	broad.mit.edu	37	8	86358512	86358512	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:86358512G>T	ENST00000285381.2	+	6	732	c.649G>T	c.(649-651)Gtg>Ttg	p.V217L	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	217					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						GCCCATGACCGTGAGCTCTGA	0.532000													15	31					1.5739e-10	2.71391e-09	0.000422831	1	0
F8	2157	broad.mit.edu	37	X	154088762	154088762	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chrX:154088762G>A	ENST00000360256.4	-	25	7045	c.6845C>T	c.(6844-6846)tCc>tTc	p.S2282F	F8_ENST00000330287.6_Missense_Mutation_p.S147F	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2282	F5/8 type C 2.				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)	TTGACTGCTGGAGATGAGGAA	0.418000													67	14					0	0	0.000147903	0	0
NETO1	81832	broad.mit.edu	37	18	70526078	70526078	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr18:70526078C>T	ENST00000327305.6	-	4	1109	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	NETO1_ENST00000397929.1_Missense_Mutation_p.R150Q|NETO1_ENST00000583169.1_Missense_Mutation_p.R151Q|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_Missense_Mutation_p.R150Q	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	151	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GAAATTGTATCGAGCTGAAAA	0.323000													55	26					0	0	0.000147903	0	0
GP2	2813	broad.mit.edu	37	16	20335499	20335499	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:20335499G>A	ENST00000302555.5	-	3	323	c.174C>T	c.(172-174)gtC>gtT	p.V58V	GP2_ENST00000381360.5_Intron|GP2_ENST00000381362.4_Silent_p.V58V|GP2_ENST00000341642.5_Intron			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	58						anchored to membrane|extracellular region|plasma membrane				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						GGTCAAAACAGACATGAGCCT	0.552000													28	28					0	0	0.000227799	0	0
ABCA7	10347	broad.mit.edu	37	19	1051465	1051465	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:1051465C>T	ENST00000263094.6	+	21	3073	c.2842C>T	c.(2842-2844)Ctg>Ttg	p.L948L	ABCA7_ENST00000435683.2_Silent_p.L810L|ABCA7_ENST00000433129.1_Silent_p.L948L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	948	ABC transporter 1.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAACGGAAGCTGTCCGTGGC	0.617000													18	26					0	0	7.07596e-05	0	0
MUC17	140453	broad.mit.edu	37	7	100682579	100682579	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:100682579C>T	ENST00000306151.4	+	3	7946	c.7882C>T	c.(7882-7884)Cct>Tct	p.P2628S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2628	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)					AATCTCAACTCCTAGTGAAGT	0.453000													29	130					0	0	0.000147802	0	0
ADAM18	8749	broad.mit.edu	37	8	39468132	39468132	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:39468132G>A	ENST00000265707.5	+	6	474	c.429G>A	c.(427-429)atG>atA	p.M143I	ADAM18_ENST00000541111.1_Intron|ADAM18_ENST00000520772.1_Missense_Mutation_p.M143I|ADAM18_ENST00000379866.1_Missense_Mutation_p.M143I	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	143					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTATCAAATGAAAAATAATG	0.333000													19	26					0	0	9.7654e-05	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95107896	95107896	+	RNA	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:95107896C>T	ENST00000469935.1	+	0	501					NR_015340.1																						GTGAGCATCTCCCTGGCCTTG	0.587000													6	4					0	0	3.59834e-05	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47366002	47366002	+	RNA	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:47366002C>T	ENST00000505841.1	-	0	107					NR_002788.2																						TCCATCTCCTCCTCTGGTACA	0.547000													5	12					0	0	1.23904e-05	0	0
ERAP1	51752	broad.mit.edu	37	5	96098933	96098933	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:96098933C>T	ENST00000296754.3	-	20	3076		c.e20-1		CAST_ENST00000511049.1_Intron|CAST_ENST00000395812.2_Intron|CAST_ENST00000395813.1_Intron|CAST_ENST00000510756.1_Intron|CAST_ENST00000508608.1_Intron|CAST_ENST00000309190.5_Intron|CAST_ENST00000359176.4_Intron|CAST_ENST00000341926.3_Intron|CAST_ENST00000511782.1_Intron|CAST_ENST00000508830.1_Intron|CAST_ENST00000325674.7_Intron|CAST_ENST00000338252.3_Intron|CAST_ENST00000508579.1_Intron|CAST_ENST00000515663.1_Intron|CAST_ENST00000504465.1_Intron|CAST_ENST00000348386.3_Intron|CAST_ENST00000509903.1_Intron	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1						angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		TCAGGATCATCTGAAAATATC	0.428000													16	27					0	0	0.000422831	0	0
C1orf173	127254	broad.mit.edu	37	1	75086490	75086490	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:75086490C>T	ENST00000326665.5	-	8	1146	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.E113K	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	310										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						ACTTTAATTTCATCCCGGAAG	0.348000													19	24					0	0	9.7654e-05	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120350843	120350843	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:120350843C>T	ENST00000397843.2	+	38	4107	c.3941C>T	c.(3940-3942)cCc>cTc	p.P1314L	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.P1211L|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.P1295L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1314					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)		GGACATATGCCCTTTAGAACT	0.483000			T	MLL	AML								45	64					0	0	0.000147903	0	0
TAAR8	83551	broad.mit.edu	37	6	132874708	132874708	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:132874708G>A	ENST00000275200.1	+	1	877	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	293						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CTATATCTATGAAATTTGCTG	0.363000													66	67					0	0	0.000147903	0	0
ZNF300P1	134466	broad.mit.edu	37	5	150322208	150322208	+	RNA	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:150322208C>T	ENST00000520773.1	-	0	1276																											TGGGTGAAATCCACAGCCACA	0.463000													5	8					0	0	0.000157383	0	0
CACNA1E	777	broad.mit.edu	37	1	181754859	181754859	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:181754859C>T	ENST00000526775.1	+	42	5798	c.5633C>T	c.(5632-5634)cCc>cTc	p.P1878L	CACNA1E_ENST00000367567.4_Missense_Mutation_p.P1504L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P1829L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1848L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1897L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1878L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1897L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1897					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						AAAAATGCCCCCATGTTCCAG	0.478000													93	113					0	0	0.000147903	0	0
SI	6476	broad.mit.edu	37	3	164757739	164757739	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:164757739C>T	ENST00000264382.3	-	19	2242	c.2180G>A	c.(2179-2181)aGc>aAc	p.S727N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	727	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTCAATCCAGCTGTTCGTATC	0.338000										HNSCC(35;0.089)			26	49					0	0	0.000184323	0	0
MGAT1	4245	broad.mit.edu	37	5	180219417	180219417	+	Silent	SNP	G	G	A	rs147959494		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:180219417G>A	ENST00000446023.2	-	3	1305	c.555C>T	c.(553-555)atC>atT	p.I185I	MGAT1_ENST00000393340.3_Silent_p.I185I|MGAT1_ENST00000307826.4_Silent_p.I185I|MGAT1_ENST00000427865.2_Silent_p.I185I|MGAT1_ENST00000333055.3_Silent_p.I185I	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	185					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTGGCGCGCGATCTTGTAGT	0.687000													37	50					0	0	0.000319135	0	0
C1orf94	84970	broad.mit.edu	37	1	34662999	34662999	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:34662999C>T	ENST00000488417.1	+	2	614	c.494C>T	c.(493-495)cCt>cTt	p.P165L	C1orf94_ENST00000373374.3_5'UTR	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	104							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)				CTTGCCCCTCCTCTAGTGGCA	0.607000													10	12					0	0	3.86212e-05	0	0
FOXI1	2299	broad.mit.edu	37	5	169532973	169532973	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:169532973C>T	ENST00000449804.2	+	1	57	c.12C>T	c.(10-12)ttC>ttT	p.F4F	FOXI1_ENST00000306268.6_Silent_p.F4F	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	4				SSF -> NSG (in Ref. 2; AAB50574).	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAGCTCCTTCGACCTGCCGG	0.692000									Pendred syndrome				12	9					0	0	0.000219431	0	0
CCDC141	285025	broad.mit.edu	37	2	179742823	179742823	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:179742823G>A	ENST00000420890.2	-	12	1884	c.1767C>T	c.(1765-1767)atC>atT	p.I589I	CCDC141_ENST00000295723.5_Silent_p.I14I|CCDC141_ENST00000409284.1_Silent_p.I589I	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	14							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCTTCTGAGGGATTTCGGTTT	0.348000													15	22					0	0	0.000422831	0	0
HPS4	89781	broad.mit.edu	37	22	26866780	26866780	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:26866780C>T	ENST00000398145.2	-	7	1118		c.e7-1		HPS4_ENST00000402105.3_Splice_Site|HPS4_ENST00000398141.1_Splice_Site|HPS4_ENST00000336873.5_Splice_Site	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4						lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GGGGCTCCACCTGTGCAGGGC	0.567000									Hermansky-Pudlak syndrome				13	21					0	0	0.000151284	0	0
SAAL1	113174	broad.mit.edu	37	11	18110953	18110953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:18110953G>A	ENST00000524803.1	-	7	743	c.694C>T	c.(694-696)Caa>Taa	p.Q232*	SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000300013.4_Nonsense_Mutation_p.Q232*|SAAL1_ENST00000529318.1_Nonsense_Mutation_p.Q232*			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	232					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						TCCTGGGGTTGGTCCAGAGGC	0.493000													22	25					0	0	0.000375601	0	0
KRT6C	286887	broad.mit.edu	37	12	52865493	52865493	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:52865493C>T	ENST00000252250.6	-	3	826	c.779G>A	c.(778-780)cGc>cAc	p.R260H		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	260	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGCTGCTGTGCGCTTGTTGAT	0.453000													55	66					0	0	0.000147903	0	0
GCC1	79571	broad.mit.edu	37	7	127222106	127222106	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:127222106G>A	ENST00000321407.2	-	2	2714	c.2290C>T	c.(2290-2292)Cca>Tca	p.P764S		NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	764						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCACTGGTTGGGAGTCGCATT	0.517000													120	31					0	0	0.000147903	0	0
CYP4F2	8529	broad.mit.edu	37	19	15990223	15990223	+	Missense_Mutation	SNP	G	G	A	rs142113670		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:15990223G>A	ENST00000221700.5	-	12	1425	c.1330C>T	c.(1330-1332)Cgc>Tgc	p.R444C	CYP4F2_ENST00000592328.1_Missense_Mutation_p.R444C	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	444					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGGTCAAAGCGAAAGGGGTCG	0.577000													51	62					0	0	0.000147903	0	0
CD200R1	131450	broad.mit.edu	37	3	112647760	112647760	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:112647760C>A	ENST00000471858.1	-	4	835	c.603G>T	c.(601-603)aaG>aaT	p.K201N	CD200R1_ENST00000308611.3_Missense_Mutation_p.K224N|CD200R1_ENST00000295863.4_Missense_Mutation_p.K179N	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	201	Ig-like C2-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GGCATGTACTCTTAACAGTCA	0.527000													13	14					6.53275e-17	1.13731e-15	0.000219431	1	0
SHKBP1	92799	broad.mit.edu	37	19	41083314	41083314	+	Silent	SNP	A	A	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:41083314A>G	ENST00000291842.5	+	3	202	c.153A>G	c.(151-153)ggA>ggG	p.G51G	SHKBP1_ENST00000600733.1_Silent_p.G51G	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	51	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCTGAGCGGACGCATCTCGA	0.627000													9	12					0	0	3.86212e-05	0	0
TMC6	11322	broad.mit.edu	37	17	76120117	76120117	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:76120117G>A	ENST00000590602.1	-	9	1194	c.1035C>T	c.(1033-1035)tcC>tcT	p.S345S	TMC6_ENST00000392467.3_Silent_p.S345S|TMC6_ENST00000306591.7_Silent_p.S345S|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000322914.3_Silent_p.S345S|TMC6_ENST00000589553.1_Silent_p.S118S			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	345						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CGCCCACAGTGGAGAGGTAGG	0.617000													17	54					0	0	7.07596e-05	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576414	158576414	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:158576414C>T	ENST00000361284.1	+	1	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGTACCTCTTCCTTTCCTTCC	0.517000													27	46					0	0	0.000227799	0	0
AHCTF1	25909	broad.mit.edu	37	1	247040330	247040330	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:247040330G>A	ENST00000366508.1	-	23	3100	c.2964C>T	c.(2962-2964)ttC>ttT	p.F988F	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.F962F|AHCTF1_ENST00000391829.2_Silent_p.F953F			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	953					cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GCACTAAAAGGAATTCATGAT	0.348000													30	24					0	0	0.000227799	0	0
MMP3	4314	broad.mit.edu	37	11	102710938	102710938	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:102710938G>A	ENST00000299855.5	-	6	1092	c.836C>T	c.(835-837)cCt>cTt	p.P279L		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	279					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	TGGAGGGACAGGTTCCGTGGG	0.517000													15	22					0	0	0.000566183	0	0
KAT2B	8850	broad.mit.edu	37	3	20136846	20136846	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:20136846T>A	ENST00000263754.4	+	3	977	c.522T>A	c.(520-522)tgT>tgA	p.C174*	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	174					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TCTTTACCTGTGTCCACAAGG	0.348000													8	10					0	0	3.86212e-05	0	0
KRT14	3861	broad.mit.edu	37	17	39743019	39743019	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:39743019C>T	ENST00000167586.6	-	1	154	c.68G>A	c.(67-69)gGc>gAc	p.G23D		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	23	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)				gcccccgatgccgcccccgat	0.711000													7	3					0	0	8.12818e-05	0	0
DOCK7	85440	broad.mit.edu	37	1	63024887	63024887	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:63024887G>A	ENST00000251157.5	-	20	2237	c.2204C>T	c.(2203-2205)cCt>cTt	p.P735L	DOCK7_ENST00000340370.5_Missense_Mutation_p.P735L	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	735	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GTCAAGATAAGGATCCTAAAA	0.363000													15	12					0	0	7.07596e-05	0	0
NTSR1	4923	broad.mit.edu	37	20	61340675	61340675	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:61340675C>T	ENST00000370501.3	+	1	487	c.116C>T	c.(115-117)tCg>tTg	p.S39L		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	39						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GGCAACGCTTCGGGCAACGCG	0.736000													9	9					0	0	0.000442599	0	0
BPIFA2	140683	broad.mit.edu	37	20	31760844	31760844	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:31760844C>T	ENST00000253362.2	+	3	410	c.264C>T	c.(262-264)gtC>gtT	p.V88V	BPIFA2_ENST00000354932.5_Silent_p.V88V			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	88						extracellular region	lipid binding	p.V88V(1)									TGAACAATGTCATTTCTAAGC	0.463000													28	40					0	0	0.000184323	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353822	45353822	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:45353822C>T	ENST00000359271.2	+	2	397	c.147C>T	c.(145-147)ttC>ttT	p.F49F		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	49						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				AGCAGGAGTTCCTGGTGGGCA	0.592000													28	49					0	0	0.000117367	0	0
EI24	9538	broad.mit.edu	37	11	125450000	125450000	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:125450000G>A	ENST00000278903.6	+	8	815	c.573G>A	c.(571-573)gtG>gtA	p.V191V	STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR|EI24_ENST00000343678.4_Silent_p.V191V|STT3A-AS1_ENST00000530526.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	191					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		p.V191V(1)		large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		GAATGTTTGTGAGTCTCTTTC	0.433000													133	168					0	0	0.000147903	0	0
SAA1	6288	broad.mit.edu	37	11	18288502	18288502	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:18288502C>T	ENST00000405158.2	+	2	252	c.68C>T	c.(67-69)tCg>tTg	p.S23L	SAA1_ENST00000356524.4_Missense_Mutation_p.S23L|SAA1_ENST00000532858.1_Missense_Mutation_p.S23L	NM_000331.4	NP_000322.2	P02735	SAA_HUMAN	serum amyloid A1	23					acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding			endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGCTTCTTTTCGTTCCTTGGC	0.498000													27	53					0	0	0.000409698	0	0
KCND3	3752	broad.mit.edu	37	1	112524287	112524287	+	Silent	SNP	G	G	A	rs150934088		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:112524287G>A	ENST00000369697.1	-	1	1131	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	KCND3_ENST00000302127.4_Silent_p.I354I|KCND3_ENST00000315987.2_Silent_p.I354I			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	354						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		ACGAGGCAGGGATGCTTGTGA	0.542000													14	16					0	0	0.000219431	0	0
FUK	197258	broad.mit.edu	37	16	70503181	70503181	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:70503181C>G	ENST00000288078.6	+	10	1142	c.910C>G	c.(910-912)Cgg>Ggg	p.R304G	FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Missense_Mutation_p.R336G	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	304						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GCAGAGCGCCCGGGCCCAGCT	0.652000													4	95					0	0	0.00024832	0	0
HIST1H2BC	8347	broad.mit.edu	37	6	26123939	26123939	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:26123939G>A	ENST00000314332.5	-	1	199	c.194C>T	c.(193-195)tCt>tTt	p.S65F	HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.S65F			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	65					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.S65Y(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						GTTAACGAAAGAATTCATGAT	0.562000													56	190					0	0	0.000147903	0	0
NOL4	8715	broad.mit.edu	37	18	31803074	31803074	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr18:31803074C>T	ENST00000261592.5	-	1	441	c.144G>A	c.(142-144)acG>acA	p.T48T	RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000589544.1_Silent_p.T48T	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	48						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						TGGCGTTGTCCGTGGAGCTCG	0.597000													60	36					0	0	0.000147903	0	0
MUSK	4593	broad.mit.edu	37	9	113562667	113562667	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:113562667T>G	ENST00000416899.2	+	13	2111	c.1985T>G	c.(1984-1986)aTg>aGg	p.M662R	MUSK_ENST00000189978.5_Missense_Mutation_p.M670R|MUSK_ENST00000374448.4_Missense_Mutation_p.M670R			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	670	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CTCCGCAGCATGTCCCCTCAC	0.572000													53	10					0	0	0.000147903	0	0
CPXM2	119587	broad.mit.edu	37	10	125521640	125521640	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:125521640G>A	ENST00000241305.3	-	11	1679	c.1525C>T	c.(1525-1527)Cct>Tct	p.P509S	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	509					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)		AGCACAAAAGGGATTTTTTCC	0.577000													40	48					0	0	0.000319135	0	0
ZNF518B	85460	broad.mit.edu	37	4	10446348	10446348	+	Silent	SNP	T	T	C			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:10446348T>C	ENST00000326756.3	-	3	2043	c.1605A>G	c.(1603-1605)gcA>gcG	p.A535A		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AGGAACAGGTTGCAGGTGATG	0.398000													25	34					0	0	9.22233e-05	0	0
NEFL	4747	broad.mit.edu	37	8	24811711	24811711	+	RNA	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:24811711C>T	ENST00000221169.5	-	0	1747							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)		GCTGCAATCTCAATATCCAAA	0.388000													118	174					0	0	0.000147903	0	0
HMGCS1	3157	broad.mit.edu	37	5	43294168	43294168	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:43294168A>C	ENST00000325110.6	-	8	1379	c.1173T>G	c.(1171-1173)gaT>gaG	p.D391E	HMGCS1_ENST00000433297.2_Missense_Mutation_p.D391E	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	391					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						CCGGTGTAGCATCTTGTGTGA	0.473000													9	30					0	0	0.000442599	0	0
ZNF28	7576	broad.mit.edu	37	19	53304430	53304430	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:53304430G>A	ENST00000438150.2	-	2	1402	c.509C>T	c.(508-510)tCc>tTc	p.S170F	ZNF28_ENST00000360272.4_Missense_Mutation_p.S170F|ZNF28_ENST00000457749.2_Missense_Mutation_p.S223F|ZNF28_ENST00000414252.2_Missense_Mutation_p.S170F			P17035	ZNF28_HUMAN	zinc finger protein 28	223					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)		ACAATTAAAGGATTTGCCACT	0.323000													46	54					0	0	0.000509022	0	0
CYP1A1	1543	broad.mit.edu	37	15	75012980	75012980	+	Silent	SNP	G	G	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:75012980G>T	ENST00000379727.3	-	7	1587	c.1389C>A	c.(1387-1389)gcC>gcA	p.A463A	CYP1A1_ENST00000395049.4_Silent_p.A434A|CYP1A1_ENST00000395048.2_Silent_p.A463A|CYP1A1_ENST00000567032.1_Silent_p.A463A			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	463					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)	CCTCCCAGCGGGCAATGGTCT	0.537000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				44	34					1.32136e-16	2.2967e-15	0.000374591	1	0
FAR1	84188	broad.mit.edu	37	11	13736088	13736088	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:13736088C>T	ENST00000354817.3	+	9	1132	c.988C>T	c.(988-990)Cct>Tct	p.P330S	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	330					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						CAAGAGGAATCCTCTCGAACA	0.373000													8	14					0	0	0.000274275	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028416	59028416	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:59028416C>G	ENST00000594051.1	-	2	1105	c.625G>C	c.(625-627)Gag>Cag	p.E209Q	ZBTB45_ENST00000354590.3_Missense_Mutation_p.E209Q|ZBTB45_ENST00000600990.1_Missense_Mutation_p.E209Q			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	209					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)		TCGTCATCCTCGTCACCTCGG	0.672000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	95	133					0	0	0.000147903	0	0
PLA1A	51365	broad.mit.edu	37	3	119336952	119336952	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:119336952C>T	ENST00000273371.4	+	7	913	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S	PLA1A_ENST00000495992.1_Missense_Mutation_p.P265S|PLA1A_ENST00000488919.1_Missense_Mutation_p.P108S|PLA1A_ENST00000494440.1_Missense_Mutation_p.P265S	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	281					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATGGCCTTTCCCTGTGCCAG	0.498000													127	177					0	0	0.000147903	0	0
ATP10D	57205	broad.mit.edu	37	4	47565627	47565627	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:47565627G>A	ENST00000273859.3	+	15	2967	c.2698G>A	c.(2698-2700)Gag>Aag	p.E900K		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	900					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CCGTCTGCAGGAGGGAGTCCC	0.473000													19	30					0	0	0.000586117	0	0
MYO18B	84700	broad.mit.edu	37	22	26422418	26422418	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:26422418G>A	ENST00000335473.7	+	43	6728	c.6478G>A	c.(6478-6480)Gaa>Aaa	p.E2160K	MYO18B_ENST00000536101.1_Missense_Mutation_p.E2160K|MYO18B_ENST00000407587.2_Missense_Mutation_p.E2161K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2160						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						CAGGATAAACGAAGAGGCTGG	0.502000													78	90					0	0	0.000147903	0	0
DMGDH	29958	broad.mit.edu	37	5	78338222	78338222	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:78338222C>T	ENST00000255189.3	-	7	1105	c.1077G>A	c.(1075-1077)ttG>ttA	p.L359L	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Silent_p.L158L	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	359					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CAGCCTTTTTCAAGACAGGAA	0.448000													24	38					0	0	0.000117367	0	0
SLC22A3	6581	broad.mit.edu	37	6	160829803	160829803	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:160829803C>T	ENST00000392145.1	+	4	734	c.707C>T	c.(706-708)tCg>tTg	p.S236L	SLC22A3_ENST00000275300.2_Missense_Mutation_p.S236L			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	236						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	p.S236*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		ATAGTAGGTTCGAAACAAAGG	0.403000													8	12					0	0	0.000442599	0	0
NBEA	26960	broad.mit.edu	37	13	35751166	35751166	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr13:35751166C>T	ENST00000540320.1	+	28	5122	c.4588C>T	c.(4588-4590)Cct>Tct	p.P1530S	NBEA_ENST00000379939.2_Missense_Mutation_p.P1527S|NBEA_ENST00000310336.4_Missense_Mutation_p.P1530S|NBEA_ENST00000400445.3_Missense_Mutation_p.P1530S			Q8NFP9	NBEA_HUMAN	neurobeachin	1530						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAACCTTTCTCCTATTAAGGA	0.348000													5	7					0	0	3.59834e-05	0	0
DNAH11	8701	broad.mit.edu	37	7	21920343	21920343	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:21920343G>A	ENST00000328843.6	+	76	12271	c.12240G>A	c.(12238-12240)aaG>aaA	p.K4080K	DNAH11_ENST00000409508.3_Silent_p.K4073K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4080	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						TATGCTCCAAGGAGCAGGAGT	0.463000									Kartagener syndrome				57	85					0	0	0.000147903	0	0
OR4K2	390431	broad.mit.edu	37	14	20344762	20344762	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:20344762C>T	ENST00000298642.2	+	1	372	c.336C>T	c.(334-336)atC>atT	p.I112I		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAACTGAGATCATCTTACTCA	0.438000													47	198					0	0	0.000147903	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857353	9857353	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:9857353C>T	ENST00000396573.2	-	14	4357	c.4048G>A	c.(4048-4050)Gac>Aac	p.D1350N	GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1350N|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1350N|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1350					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)	CTCTTGCTGTCCTCCAGACCT	0.537000													19	32					0	0	9.7654e-05	0	0
CRB1	23418	broad.mit.edu	37	1	197396720	197396720	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:197396720G>A	ENST00000367397.1	+	3	1266	c.408G>A	c.(406-408)ttG>ttA	p.L136L	CRB1_ENST00000367399.2_Silent_p.L643L|CRB1_ENST00000367400.3_Silent_p.L755L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Silent_p.L686L|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000544212.1_Silent_p.L236L			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	755	EGF-like 3.				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						TTCTAGCTTTGGAAAACAGCA	0.433000													12	16					0	0	0.00010058	0	0
COL5A3	50509	broad.mit.edu	37	19	10107314	10107314	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:10107314G>A	ENST00000264828.3	-	12	1400	c.1315C>T	c.(1315-1317)Ccg>Tcg	p.P439S	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	439	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACAGTGCCCGGTGGGCCTCGG	0.647000													16	27					0	0	0.000566183	0	0
IGKV3-11	28914	broad.mit.edu	37	2	89326736	89326736	+	RNA	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:89326736G>A	ENST00000483158.1	-	0	323																											CTGATGGTGAGAGTGAAGTCT	0.542000													25	30					0	0	0.000117367	0	0
SMOC1	64093	broad.mit.edu	37	14	70418873	70418873	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:70418873G>A	ENST00000381280.4	+	2	371	c.118G>A	c.(118-120)Gac>Aac	p.D40N	SMOC1_ENST00000555917.1_3'UTR|SMOC1_ENST00000361956.3_Missense_Mutation_p.D40N	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	40	Kazal-like.				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)		AAGTGACCGTGACCCACAGTG	0.488000													33	48					0	0	0.000159656	0	0
PSD	5662	broad.mit.edu	37	10	104165191	104165191	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:104165191G>A	ENST00000020673.5	-	12	2764	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	PSD_ENST00000406432.1_Silent_p.F746F	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	746					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)		TCAGGTCCAGGAAAGGGCTGG	0.642000													40	49					0	0	0.000509022	0	0
BSN	8927	broad.mit.edu	37	3	49701949	49701949	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:49701949C>T	ENST00000296452.4	+	9	11816	c.11702C>T	c.(11701-11703)cCt>cTt	p.P3901L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3901					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)		AAGATCCTCCCTGGCGGGGCA	0.647000													38	42					0	0	0.000270559	0	0
IGHA1	3493	broad.mit.edu	37	14	106174198	106174198	+	RNA	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:106174198G>A	ENST00000390547.2	-	0	590																											TCTTCCCATGGTTCCATGGCT	0.627000													7	10					0	0	0.000157383	0	0
CLCN7	1186	broad.mit.edu	37	16	1499018	1499018	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:1499018G>A	ENST00000382745.4	-	19	2351	c.1746C>T	c.(1744-1746)ccC>ccT	p.P582P	CLCN7_ENST00000448525.1_Silent_p.P558P|CLCN7_ENST00000262318.8_Silent_p.P558P	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	582						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CCAGCATGATGGGGAAGCCGT	0.612000													13	18					0	0	0.000219431	0	0
MUC16	94025	broad.mit.edu	37	19	9075775	9075775	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:9075775C>T	ENST00000397910.4	-	3	11874	c.11671G>A	c.(11671-11673)Gaa>Aaa	p.E3891K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3892	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						ATGGTATCTTCTGAGACAGAA	0.453000													16	15					0	0	0.000566183	0	0
C19orf45	374877	broad.mit.edu	37	19	7569281	7569281	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:7569281G>A	ENST00000361664.2	+	4	907	c.766G>A	c.(766-768)Gat>Aat	p.D256N		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	256			D -> G (in dbSNP:rs484870).							endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						CAGGCCCCAGGATCTGCCTGA	0.587000													22	30					0	0	0.000375601	0	0
SRPK1	6732	broad.mit.edu	37	6	35803137	35803137	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:35803137G>A	ENST00000373825.2	-	16	2197	c.1912C>T	c.(1912-1914)Cct>Tct	p.P638S	SRPK1_ENST00000373822.1_Missense_Mutation_p.P530S|SRPK1_ENST00000423325.2_Missense_Mutation_p.P622S			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	638	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.P637A(1)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						CTCTTCTCAGGGATCAGCTCC	0.567000													11	52					0	0	6.40141e-05	0	0
COQ7	10229	broad.mit.edu	37	16	19083402	19083402	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:19083402C>T	ENST00000321998.5	+	2	292	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	COQ7_ENST00000568985.1_Missense_Mutation_p.R76W|COQ7_ENST00000569127.1_Missense_Mutation_p.R53W|COQ7_ENST00000544894.2_Missense_Mutation_p.R38W	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	76	2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						TGTCCTGGGTCGGACCAGCGT	0.537000											OREG0023656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	41					0	0	0.000132358	0	0
VWA9	81556	broad.mit.edu	37	15	65890678	65890678	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:65890678G>A	ENST00000395644.4	-	6	1064	c.729C>T	c.(727-729)atC>atT	p.I243I	VWA9_ENST00000431261.2_Silent_p.I164I|VWA9_ENST00000442903.3_Silent_p.I207I|VWA9_ENST00000420799.2_Silent_p.I186I|VWA9_ENST00000567744.1_Silent_p.I279I|VWA9_ENST00000313182.2_Silent_p.I243I|VWA9_ENST00000569491.1_Silent_p.I194I					von Willebrand factor A domain containing 9																		TGACTTTAGGGATAGGATCAA	0.383000													24	33					0	0	9.22233e-05	0	0
DOK2	9046	broad.mit.edu	37	8	21771103	21771103	+	Missense_Mutation	SNP	C	C	A	rs149394218	byFrequency	TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:21771103C>A	ENST00000276420.4	-	1	268	c.10G>T	c.(10-12)Ggg>Tgg	p.G4W	DOK2_ENST00000544659.1_5'UTR	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	4	PH.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TTCACTGCCCCGTCTCCCATC	0.587000													6	83					0.000274275	0.00465538	0.000274275	1	0
NLRP2	55655	broad.mit.edu	37	19	55492998	55492998	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:55492998G>A	ENST00000543010.1	+	5	554	c.411G>A	c.(409-411)acG>acA	p.T137T	NLRP2_ENST00000537859.1_Intron|NLRP2_ENST00000427260.2_Silent_p.T114T|NLRP2_ENST00000339757.7_Intron|NLRP2_ENST00000263437.6_Silent_p.T134T|NLRP2_ENST00000391721.4_Silent_p.T113T|NLRP2_ENST00000448584.2_Silent_p.T137T|NLRP2_ENST00000538819.1_Silent_p.T113T	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	137					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TTACAGAAACGAAAGGAAATG	0.413000													37	44					0	0	0.000319135	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141131	63141131	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:63141131C>T	ENST00000279178.3	+	3	771	c.522C>T	c.(520-522)ttC>ttT	p.F174F	SLC22A9_ENST00000310969.4_Intron	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	174					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GGAGAAGGTTCGTGCTCAGAT	0.458000													5	10					0	0	3.59834e-05	0	0
PCDH12	51294	broad.mit.edu	37	5	141335158	141335158	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:141335158C>T	ENST00000231484.3	-	1	3469	c.2259G>A	c.(2257-2259)cgG>cgA	p.R753R		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	753				R -> W (in Ref. 4; BAB14677).	neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCGGCCTCCCGACAGTTGT	0.582000													20	25					0	0	0.000229342	0	0
SPTA1	6708	broad.mit.edu	37	1	158618345	158618345	+	Missense_Mutation	SNP	C	C	T	rs148714399	by1000genomes	TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:158618345C>T	ENST00000368148.3	-	26	3848	c.3668G>A	c.(3667-3669)cGa>cAa	p.R1223Q	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1223Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1223					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	p.R1223Q(1)		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)					CTCATGCCGTCGCTGAAGAGC	0.507000													23	27					0	0	0.00047179	0	0
CFTR	1080	broad.mit.edu	37	7	117175331	117175331	+	Silent	SNP	C	C	T	rs1800081		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:117175331C>T	ENST00000003084.6	+	6	741	c.609C>T	c.(607-609)atC>atT	p.I203I	CFTR_ENST00000454343.1_Silent_p.I203I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	203	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)	TCGTGTGGATCGCTCCTTTGC	0.458000									Cystic Fibrosis				58	45					0	0	0.000147903	0	0
DSCAM	1826	broad.mit.edu	37	21	41719705	41719705	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr21:41719705C>T	ENST00000400454.1	-	6	1579	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	368	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E368Q(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATAAGGTTTTCGTGGTTGATC	0.512000													60	90					0	0	0.000147903	0	0
ADCY1	107	broad.mit.edu	37	7	45632490	45632490	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:45632490G>A	ENST00000297323.7	+	2	794	c.772G>A	c.(772-774)Gat>Aat	p.D258N	ADCY1_ENST00000432715.1_Missense_Mutation_p.D33N	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	258					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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GAGGCTGGAGGATGAGAACGA	0.592000													24	25					0	0	0.000295444	0	0
FBXO22	26263	broad.mit.edu	37	15	76225175	76225175	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:76225175C>T	ENST00000308275.3	+	7	1049	c.944C>T	c.(943-945)cCa>cTa	p.P315L	FBXO22_ENST00000540507.1_Missense_Mutation_p.P211L	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	315					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GCCAACATTCCAGAGCATAAC	0.517000													22	28					0	0	0.000175454	0	0
FRMD7	90167	broad.mit.edu	37	X	131218544	131218544	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chrX:131218544G>A	ENST00000298542.4	-	8	890	c.715C>T	c.(715-717)Ctc>Ttc	p.L239F	FRMD7_ENST00000464296.1_Missense_Mutation_p.L224F|FRMD7_ENST00000370879.1_Missense_Mutation_p.L119F	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	239	FERM.				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)					AGTTTGATGAGAAAATGCTTT	0.323000													45	5					0	0	0.000147903	0	0
GPR112	139378	broad.mit.edu	37	X	135430340	135430340	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chrX:135430340C>T	ENST00000394143.1	+	6	4766	c.4475C>T	c.(4474-4476)cCa>cTa	p.P1492L	GPR112_ENST00000394141.1_Missense_Mutation_p.P1287L|GPR112_ENST00000287534.4_Missense_Mutation_p.P1429L|GPR112_ENST00000370652.1_Missense_Mutation_p.P1492L|GPR112_ENST00000412101.1_Missense_Mutation_p.P1287L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1492					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTTTCTGTTCCAAATGTACCT	0.448000													14	4					0	0	0.000151284	0	0
RXFP1	59350	broad.mit.edu	37	4	159573010	159573010	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:159573010C>T	ENST00000307765.5	+	18	2328	c.2077C>T	c.(2077-2079)Cat>Tat	p.H693Y	RXFP1_ENST00000448688.2_Missense_Mutation_p.H588Y|RXFP1_ENST00000343542.5_Missense_Mutation_p.H645Y|RXFP1_ENST00000460056.2_Missense_Mutation_p.H612Y|RXFP1_ENST00000470033.1_Missense_Mutation_p.H660Y	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	693						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)		AGAAATGATTCATCGGTTTTG	0.388000													29	38					0	0	0.000184323	0	0
SLC36A3	285641	broad.mit.edu	37	5	150682882	150682882	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:150682882G>T	ENST00000335230.3	-	1	445	c.34C>A	c.(34-36)Ctg>Atg	p.L12M	SLC36A3_ENST00000377713.3_Missense_Mutation_p.L12M	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	12						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGGAGTTCAGCTCACTGTTG	0.512000													8	81					0.000274275	0.00465538	0.000274275	1	0
GPR37	2861	broad.mit.edu	37	7	124386989	124386989	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:124386989G>A	ENST00000303921.2	-	2	2082	c.1432C>T	c.(1432-1434)Cga>Tga	p.R478*		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	478						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTATTCCCTCGGGTACAGGCT	0.433000													16	31					0	0	0.000566183	0	0
PTPRD	5789	broad.mit.edu	37	9	8500886	8500886	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:8500886G>A	ENST00000381196.4	-	21	2539	c.1996C>T	c.(1996-1998)Cct>Tct	p.P666S	PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.P653S|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.P653S|PTPRD_ENST00000540109.1_Missense_Mutation_p.P666S|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.P666S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	666	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTGTCCGAAGGAATTCCCAAA	0.478000										TSP Lung(15;0.13)			53	139					0	0	0.000147903	0	0
PARP8	79668	broad.mit.edu	37	5	50091099	50091099	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:50091099C>T	ENST00000281631.5	+	12	1434	c.1276C>T	c.(1276-1278)Cac>Tac	p.H426Y	PARP8_ENST00000514067.2_Missense_Mutation_p.H426Y|PARP8_ENST00000505554.1_Missense_Mutation_p.H405Y|PARP8_ENST00000505697.2_Missense_Mutation_p.H426Y|PARP8_ENST00000503750.2_Missense_Mutation_p.H426Y|PARP8_ENST00000514342.2_Missense_Mutation_p.H179Y|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	426						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)				ACTGAAAAATCACAAATTGCT	0.448000													19	30					0	0	9.7654e-05	0	0
EPG5	57724	broad.mit.edu	37	18	43534931	43534931	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr18:43534931G>A	ENST00000282041.5	-	2	471	c.437C>T	c.(436-438)tCg>tTg	p.S146L		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	146					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						ACCTTGTACCGACATATTTTC	0.428000													29	61					0	0	0.000279167	0	0
CDCP2	200008	broad.mit.edu	37	1	54610221	54610221	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:54610221G>A	ENST00000371330.1	-	2	1192	c.345C>T	c.(343-345)acC>acT	p.T115T	RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_Intron	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	115	CUB 1.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GCCAGGAGGAGGTGAAGGGCG	0.602000													24	24					0	0	0.000295444	0	0
MORC1	27136	broad.mit.edu	37	3	108682299	108682299	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:108682299G>A	ENST00000232603.5	-	27	2843	c.2761C>T	c.(2761-2763)Cgt>Tgt	p.R921C	MORC1_ENST00000483760.1_Missense_Mutation_p.R900C	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	921					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AGTTTTATACGAAGATTCTTC	0.358000													42	59					0	0	0.000147903	0	0
KCNH1	3756	broad.mit.edu	37	1	210856840	210856840	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:210856840G>A	ENST00000367007.4	-	11	2841	c.2672C>T	c.(2671-2673)cCt>cTt	p.P891L	KCNH1_ENST00000271751.4_Missense_Mutation_p.P918L	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	918					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)		CGTCTGCTCAGGGATGGGGTA	0.572000													39	22					0	0	0.000159656	0	0
ZAN	7455	broad.mit.edu	37	7	100350305	100350305	+	RNA	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:100350305C>T	ENST00000542585.1	+	0	2725				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACCCACCATCCCCACAGAAA	0.488000													34	10					0	0	0.000409698	0	0
ZNF280D	54816	broad.mit.edu	37	15	56958717	56958717	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:56958717G>A	ENST00000559237.1	-	15	2514	c.1831C>T	c.(1831-1833)Cac>Tac	p.H611Y	ZNF280D_ENST00000396245.1_Missense_Mutation_p.H328Y|ZNF280D_ENST00000267807.7_Missense_Mutation_p.H624Y|ZNF280D_ENST00000559000.1_Missense_Mutation_p.H611Y	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		ATGCATTTGTGAATGCCCCGA	0.328000													18	24					0	0	0.000175454	0	0
MUC5B	727897	broad.mit.edu	37	11	1264798	1264798	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:1264798C>T	ENST00000447027.1	+	31	6755	c.6697C>T	c.(6697-6699)Cct>Tct	p.P2233S	MUC5B_ENST00000529681.1_Missense_Mutation_p.P2230S|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2230	7 X Cys-rich subdomain repeats.|Thr-rich.			V -> G (in Ref. 4; CAA96577).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CATCACAGAGCCTTCCACGGT	0.652000													12	10					0	0	9.7654e-05	0	0
SZT2	23334	broad.mit.edu	37	1	43880784	43880784	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:43880784C>T	ENST00000562955.1	+	5	530	c.530C>T	c.(529-531)tCc>tTc	p.S177F		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	177						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						TTGGACCCTTCCCAGCGGGAG	0.572000											OREG0013431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	16					0	0	3.86212e-05	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640561	99640561	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:99640561G>A	ENST00000547776.2	-	13	1837	c.1838C>T	c.(1837-1839)tCt>tTt	p.S613F	ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.S193F|ANKS1B_ENST00000329257.7_Missense_Mutation_p.S613F	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	613						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		ACAGGCTGGAGAGGATCCATG	0.468000													64	84					0	0	0.000147903	0	0
ZBED6CL	113763	broad.mit.edu	37	7	150027560	150027560	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:150027560C>T	ENST00000343855.4	+	1	623	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L	LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000359623.4_Intron	NM_138434.2	NP_612443.1			ZBED6 C-terminal like																		GCTGCGCTACCTGCACATCTT	0.647000													64	28					0	0	0.000147903	0	0
CD2	914	broad.mit.edu	37	1	117311214	117311214	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:117311214C>T	ENST00000369478.3	+	5	973	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	289	Pro-rich.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	ACCTGGTCATCGTTCCCAGGC	0.587000													17	25					0	0	0.000175454	0	0
TNS4	84951	broad.mit.edu	37	17	38645016	38645016	+	Silent	SNP	C	C	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:38645016C>A	ENST00000254051.6	-	3	803	c.645G>T	c.(643-645)ctG>ctT	p.L215L		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	215	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CTGAGGGGGGCAGAGGGCGCT	0.647000													27	56					3.01185e-09	5.17694e-08	0.000586117	1	0
DMRT1	1761	broad.mit.edu	37	9	916815	916815	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:916815C>T	ENST00000382276.3	+	4	1024	c.875C>T	c.(874-876)tCt>tTt	p.S292F	DMRT1_ENST00000569227.1_Missense_Mutation_p.S134F	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	292					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		AGGATGCATTCTTACTACCCG	0.502000													46	18					0	0	0.000147903	0	0
OR51E2	81285	broad.mit.edu	37	11	4703603	4703603	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:4703603G>A	ENST00000396950.3	-	2	578	c.339C>T	c.(337-339)atC>atT	p.I113I		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGGCCAGCAGGATGGTGGATT	0.517000													22	20					0	0	0.000175454	0	0
CNOT3	4849	broad.mit.edu	37	19	54647468	54647468	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:54647468C>T	ENST00000406403.1	+	4	1844	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	CNOT3_ENST00000221232.5_Missense_Mutation_p.R81C|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	81					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)					TATAGACAACCGCAAGCTCAT	0.557000													22	21					0	0	0.000175454	0	0
DLEC1	9940	broad.mit.edu	37	3	38158038	38158038	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:38158038G>A	ENST00000308059.6	+	28	3972	c.3951G>A	c.(3949-3951)cgG>cgA	p.R1317R	DLEC1_ENST00000452631.2_Silent_p.R1320R|DLEC1_ENST00000346219.3_Silent_p.R1317R			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1317					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TCCCGCTGCGGGACCAAGCCG	0.597000													31	57					0	0	0.000491102	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54912499	54912499	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:54912499C>A	ENST00000293373.6	+	14	1482	c.1403C>A	c.(1402-1404)tCt>tAt	p.S468Y	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.S418Y	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	468					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATCCTCTCCTCTCTGAATCTC	0.468000													72	82					7.09011e-46	1.24232e-44	0.000147903	1	0
TRIM60	166655	broad.mit.edu	37	4	165962177	165962177	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:165962177G>A	ENST00000512596.1	+	3	1169	c.953G>A	c.(952-954)cGa>cAa	p.R318Q	TRIM60_ENST00000341062.5_Missense_Mutation_p.R318Q|TRIM60_ENST00000508504.1_Missense_Mutation_p.R318Q	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	318	B30.2/SPRY.					intracellular	zinc ion binding	p.R318Q(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AAAGCTGTGCGATATGAAAGA	0.413000													49	50					0	0	0.000147903	0	0
OSBPL10	114884	broad.mit.edu	37	3	32022478	32022478	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:32022478G>A	ENST00000396556.2	-	1	316	c.194C>T	c.(193-195)cCg>cTg	p.P65L	OSBPL10_ENST00000438237.2_Missense_Mutation_p.P65L	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	65					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TCCCCCGGACGGGCTAGCGGC	0.756000													4	10					0	0	1.23904e-05	0	0
TRBV6-1	28606	broad.mit.edu	37	7	142028416	142028416	+	RNA	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:142028416C>T	ENST00000390353.2	+	0	207																											ACCATAACTCCATGTACTGGT	0.502000													16	146					0	0	7.07596e-05	0	0
HCN1	348980	broad.mit.edu	37	5	45645578	45645578	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:45645578G>A	ENST00000303230.4	-	2	615	c.558C>T	c.(556-558)ttC>ttT	p.F186F		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	186						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						GGTCCAATAGGAAAACTGTAT	0.368000													16	21					0	0	0.000308642	0	0
ANO3	63982	broad.mit.edu	37	11	26655833	26655833	+	Silent	SNP	C	C	T	rs144906007		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:26655833C>T	ENST00000256737.3	+	19	2808	c.1956C>T	c.(1954-1956)tcC>tcT	p.S652S	ANO3_ENST00000525139.1_Silent_p.S636S|ANO3_ENST00000537978.1_Silent_p.S636S|ANO3_ENST00000531568.1_Silent_p.S506S	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	652						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TAAACAGTTCCATCTTCTATA	0.373000													11	7					0	0	0.00010058	0	0
SMAD6	4091	broad.mit.edu	37	15	67073543	67073543	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:67073543C>T	ENST00000288840.5	+	4	2192	c.1161C>T	c.(1159-1161)atC>atT	p.I387I	SMAD6_ENST00000338426.4_Silent_p.I126I	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	387	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						GCAGCAAGATCGGCTTCGGCA	0.672000													12	16					0	0	0.000151284	0	0
MYLK	4638	broad.mit.edu	37	3	123366165	123366165	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:123366165C>T	ENST00000360772.3	-	28	4903	c.4525G>A	c.(4525-4527)Gag>Aag	p.E1509K	MYLK_ENST00000360304.3_Missense_Mutation_p.E1509K|MYLK_ENST00000359169.1_Missense_Mutation_p.E1509K|MYLK_ENST00000346322.5_Missense_Mutation_p.E1440K|MYLK_ENST00000354792.5_Missense_Mutation_p.E309K|MYLK_ENST00000475616.1_Missense_Mutation_p.E1509K			Q15746	MYLK_HUMAN	myosin light chain kinase	1509	Protein kinase.				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)		ATGCTAATCTCCTGCCGGATA	0.468000													13	35					0	0	0.000308642	0	0
BTN3A1	11119	broad.mit.edu	37	6	26413833	26413833	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:26413833C>T	ENST00000289361.6	+	10	1823	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	BTN3A1_ENST00000414912.2_Silent_p.F433F	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	485	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TTCATACTTTCCTGGACGTCT	0.463000													45	149					0	0	0.000147903	0	0
CD40	958	broad.mit.edu	37	20	44751836	44751836	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:44751836G>A	ENST00000372285.3	+	5	547	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	CD40_ENST00000372276.3_Missense_Mutation_p.E159K|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	159					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	p.E159K(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	ATCTGCTTTCGAAAAATGTCA	0.532000									Immune Deficiency with Hyper-IgM				75	100					0	0	0.000147903	0	0
GRIA1	2890	broad.mit.edu	37	5	153174185	153174185	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:153174185C>T	ENST00000285900.5	+	14	2618	c.2275C>T	c.(2275-2277)Cca>Tca	p.P759S	GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000521843.2_Missense_Mutation_p.P690S|GRIA1_ENST00000518142.1_Missense_Mutation_p.P679S|GRIA1_ENST00000518783.1_Missense_Mutation_p.P769S|GRIA1_ENST00000340592.5_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	759					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)	TTAAAGAAATCCAGTAAACCT	0.478000													11	13					0	0	6.40141e-05	0	0
EFCAB6	64800	broad.mit.edu	37	22	43926756	43926756	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:43926756C>T	ENST00000262726.7	-	31	4575	c.4322G>A	c.(4321-4323)cGc>cAc	p.R1441H	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R1289H|EFCAB6_ENST00000461800.1_5'UTR|EFCAB6-AS1_ENST00000431327.2_RNA	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1441	EF-hand 16.|Interaction with AR.|Interaction with PARK7.				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)				TTTGAACGTGCGCCGCATTGG	0.562000													33	43					0	0	0.000132358	0	0
DAB1	1600	broad.mit.edu	37	1	57537964	57537964	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:57537964C>T	ENST00000371236.2	-	5	693	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	DAB1_ENST00000414851.2_Missense_Mutation_p.A144T|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371234.4_Missense_Mutation_p.A144T|DAB1_ENST00000371231.1_Missense_Mutation_p.A144T|DAB1_ENST00000420954.2_Missense_Mutation_p.A144T|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371230.1_Missense_Mutation_p.A144T			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	144	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ACCGCCTGGGCTGTTTTTATG	0.493000													23	27					0	0	0.000586117	0	0
CCER1	196477	broad.mit.edu	37	12	91347349	91347349	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:91347349G>A	ENST00000358859.2	-	1	1604	c.1171C>T	c.(1171-1173)Ccc>Tcc	p.P391S	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		GGCACTTTGGGAATTATCTGC	0.413000													30	37					0	0	0.000109025	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215081	140215081	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:140215081G>A	ENST00000525929.1	+	1	1113	c.1113G>A	c.(1111-1113)ttG>ttA	p.L371L	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.L371L|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_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)			TCATCACATTGATTAGCGTGT	0.502000													64	78					0	0	0.000147903	0	0
IGHD	3495	broad.mit.edu	37	14	106307415	106307415	+	RNA	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:106307415C>T	ENST00000390556.2	-	0	622																											TGGGGACCTTCCCGGCCACCT	0.662000													7	10					0	0	8.12818e-05	0	0
ESR2	2100	broad.mit.edu	37	14	64723949	64723949	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:64723949C>T	ENST00000557772.1	-	5	1085	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L	ESR2_ENST00000555278.1_Silent_p.L362L|ESR2_ENST00000554572.1_Silent_p.L362L|ESR2_ENST00000553796.1_Silent_p.L362L|ESR2_ENST00000358599.5_Silent_p.L362L|ESR2_ENST00000357782.2_Silent_p.L362L|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000353772.3_Silent_p.L362L|ESR2_ENST00000542956.1_Silent_p.L362L|ESR2_ENST00000267525.6_Intron|ESR2_ENST00000341099.4_Silent_p.L362L	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	362	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CTCACCTGTCCAGAACAAGAT	0.468000													41	48					0	0	0.000589545	0	0
GYS2	2998	broad.mit.edu	37	12	21721862	21721862	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:21721862C>T	ENST00000261195.2	-	5	1014	c.760G>A	c.(760-762)Gtg>Atg	p.V254M		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	254					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	p.V254M(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTGGTGAACACGTGAGCGCAA	0.428000													25	37					0	0	0.000375601	0	0
SFTPA1	653509	broad.mit.edu	37	10	81373830	81373830	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:81373830G>A	ENST00000398636.3	+	6	846	c.708G>A	c.(706-708)agG>agA	p.R236R	SFTPA1_ENST00000372308.3_Silent_p.R236R|SFTPA1_ENST00000428376.2_Silent_p.R236R|SFTPA1_ENST00000372313.5_Silent_p.R177R|SFTPA1_ENST00000419470.2_Silent_p.R251R	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	236	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GGAATGACAGGAACTGCCTGT	0.582000													37	32					0	0	0.000228196	0	0
AIM1	202	broad.mit.edu	37	6	107001438	107001438	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:107001438G>A	ENST00000369066.3	+	14	4844	c.4357G>A	c.(4357-4359)Ggc>Agc	p.G1453S	AIM1_ENST00000535438.1_Missense_Mutation_p.G272S	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1453	Beta/gamma crystallin 'Greek key' 10.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGTTTCAGGAGGCAGGTAAGT	0.408000													17	20					0	0	7.07596e-05	0	0
ST18	9705	broad.mit.edu	37	8	53084982	53084982	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:53084982C>T	ENST00000276480.7	-	10	1122	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	147						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E147K(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTAAATTTTCACTTACAGTC	0.378000													34	37					0	0	0.000191422	0	0
ADAR	103	broad.mit.edu	37	1	154557721	154557721	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:154557721G>A	ENST00000368474.4	-	14	3614	c.3415C>T	c.(3415-3417)Ctg>Ttg	p.L1139L	ADAR_ENST00000368471.3_Silent_p.L844L|ADAR_ENST00000292205.5_Silent_p.L1182L	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1139	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GTACCGTCCAGGATCTCCAGG	0.542000													51	63					0	0	0.000147903	0	0
EPB41	2035	broad.mit.edu	37	1	29319973	29319973	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:29319973C>T	ENST00000343067.4	+	3	727	c.600C>T	c.(598-600)tcC>tcT	p.S200S	EPB41_ENST00000398863.2_Silent_p.S200S|EPB41_ENST00000373797.1_Silent_p.S200S|EPB41_ENST00000373798.1_Silent_p.S200S|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000356093.2_Silent_p.S200S|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Silent_p.S200S	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	200					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)		TAAAAGCTTCCCAAAAACCAA	0.363000													40	45					0	0	0.000191422	0	0
ZDHHC19	131540	broad.mit.edu	37	3	195938160	195938160	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:195938160C>T	ENST00000296326.3	-	1	106	c.27G>A	c.(25-27)ccG>ccA	p.P9P	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	9						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		CCTTCACCAGCGGCGTGGCAT	0.627000													24	55					0	0	0.000586117	0	0
CASS4	57091	broad.mit.edu	37	20	55027325	55027325	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:55027325G>A	ENST00000371336.3	+	5	1294	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	CASS4_ENST00000360314.3_Missense_Mutation_p.E365K|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	365					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GGCTGGGAAGGAGCTGGAGAA	0.507000													20	28					0	0	0.000175454	0	0
PHRF1	57661	broad.mit.edu	37	11	609395	609395	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:609395C>T	ENST00000264555.5	+	14	4067	c.3939C>T	c.(3937-3939)agC>agT	p.S1313S	PHRF1_ENST00000413872.2_Silent_p.S1311S|PHRF1_ENST00000533464.1_Silent_p.S1309S|PHRF1_ENST00000416188.2_Silent_p.S1312S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1313							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCCCAGCCAGCCTGGCCGTGG	0.632000													6	12					0	0	8.12818e-05	0	0
CALB2	794	broad.mit.edu	37	16	71411602	71411602	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:71411602C>T	ENST00000302628.4	+	4	371	c.294C>T	c.(292-294)ttC>ttT	p.F98F	CALB2_ENST00000349553.5_Silent_p.F98F	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	98	EF-hand 2.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				AAGAGAACTTCCTTCTGTGCT	0.557000													29	41					0	0	0.000184323	0	0
HOXD10	3236	broad.mit.edu	37	2	176983919	176983919	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:176983919A>G	ENST00000249501.4	+	2	1238	c.983A>G	c.(982-984)aAc>aGc	p.N328S	HOXD10_ENST00000490088.2_3'UTR	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	328						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)		AGCCGAGAGAACCGGATCCGA	0.562000													16	36					0	0	7.07596e-05	0	0
TRGV3	6976	broad.mit.edu	37	7	38398612	38398612	+	RNA	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:38398612G>A	ENST00000390346.2	-	0	151																											GAAGGAAACGGACCAGATGAA	0.552000													6	2					0	0	3.59834e-05	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45555814	45555814	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr18:45555814G>A	ENST00000588982.1	-	4	2178	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F	ZBTB7C_ENST00000535628.2_Silent_p.F559F|ZBTB7C_ENST00000586438.1_Silent_p.F559F|ZBTB7C_ENST00000332053.2_Silent_p.F559F|ZBTB7C_ENST00000590800.1_Silent_p.F559F			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	559						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCGCGCGCCCGAACAGCTTCA	0.726000													16	18					0	0	0.000422831	0	0
CFH	3075	broad.mit.edu	37	1	196643044	196643044	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:196643044G>A	ENST00000367429.4	+	3	542	c.302G>A	c.(301-303)gGa>gAa	p.G101E	CFH_ENST00000439155.2_Missense_Mutation_p.G101E|CFH_ENST00000359637.2_Missense_Mutation_p.G101E	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	101	Sushi 2.				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						CTTACAGGAGGAAATGTGTTT	0.343000													53	51					0	0	0.000147903	0	0
EFNB3	1949	broad.mit.edu	37	17	7612849	7612849	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:7612849G>A	ENST00000226091.2	+	5	1375	c.978G>A	c.(976-978)caG>caA	p.Q326Q		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	326					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				ATATCGTGCAGGATGGGCCCC	0.592000													30	2					0	0	0.000132358	0	0
MYLK	4638	broad.mit.edu	37	3	123376127	123376127	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:123376127C>T	ENST00000360772.3	-	25	4512	c.4134G>A	c.(4132-4134)tgG>tgA	p.W1378*	MYLK_ENST00000360304.3_Nonsense_Mutation_p.W1378*|MYLK_ENST00000359169.1_Nonsense_Mutation_p.W1378*|MYLK_ENST00000346322.5_Nonsense_Mutation_p.W1309*|MYLK_ENST00000354792.5_Nonsense_Mutation_p.W178*|MYLK_ENST00000475616.1_Nonsense_Mutation_p.W1378*			Q15746	MYLK_HUMAN	myosin light chain kinase	1378	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III.				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)		CTAGTTCCTTCCACGTCTTGT	0.537000													25	26					0	0	0.000586117	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156618031	156618031	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:156618031G>A	ENST00000296518.7	+	3	221	c.12G>A	c.(10-12)acG>acA	p.T4T	GUCY1A3_ENST00000506455.1_Silent_p.T4T|GUCY1A3_ENST00000455639.2_Silent_p.T4T|GUCY1A3_ENST00000393832.3_Intron|GUCY1A3_ENST00000511108.1_Silent_p.T4T|GUCY1A3_ENST00000513574.1_Silent_p.T4T|GUCY1A3_ENST00000511507.1_Silent_p.T4T|GUCY1A3_ENST00000515602.1_Intron			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	4					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			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)		TGTTCTGCACGAAGCTCAAGG	0.488000													4	18					0	0	1.23904e-05	0	0
ZNF474	133923	broad.mit.edu	37	5	121488712	121488712	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:121488712G>A	ENST00000296600.4	+	2	1410	c.1027G>A	c.(1027-1029)Gta>Ata	p.V343I	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	343						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		AGCACCCAGTGTAACTGATAA	0.458000													16	30					0	0	0.000422831	0	0
OTOP1	133060	broad.mit.edu	37	4	4199727	4199727	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:4199727C>T	ENST00000296358.4	-	5	858	c.834G>A	c.(832-834)caG>caA	p.Q278Q		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	278					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGGCCAGGATCTGATACTCTA	0.532000													30	45					0	0	0.000279167	0	0
SAMD9	54809	broad.mit.edu	37	7	92732356	92732356	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:92732356C>T	ENST00000379958.2	-	3	3324	c.3055G>A	c.(3055-3057)Gat>Aat	p.D1019N		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1019						cytoplasm		p.D1019N(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATACCAGTATCGAAGAACAAA	0.368000													24	17					0	0	0.00047179	0	0
FLT4	2324	broad.mit.edu	37	5	180056356	180056356	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:180056356G>A	ENST00000261937.6	-	7	966	c.888C>T	c.(886-888)acC>acT	p.T296T	FLT4_ENST00000393347.3_Silent_p.T296T|FLT4_ENST00000502649.1_Silent_p.T296T|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	296	Ig-like C2-type 3.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CGTTGTGGATGGTCAGGATGC	0.627000													24	26					0	0	0.000117367	0	0
CFHR4	10877	broad.mit.edu	37	1	196857321	196857321	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:196857321C>T	ENST00000367416.2	+	1	178	c.41C>T	c.(40-42)tCc>tTc	p.S14F	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.S14F|CFHR4_ENST00000251424.4_Missense_Mutation_p.S14F	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TTGTGGGTTTCCTGTGCTAAT	0.343000													11	16					0	0	0.000151284	0	0
PRDM9	56979	broad.mit.edu	37	5	23527798	23527798	+	Silent	SNP	G	G	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:23527798G>T	ENST00000296682.3	+	11	2783	c.2601G>T	c.(2599-2601)cgG>cgT	p.R867R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	867					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						AGTGTGGGCGGGGCTTTAGCG	0.557000										HNSCC(3;0.000094)			16	37					4.14922e-12	7.17742e-11	0.000422831	1	0
MYO7B	4648	broad.mit.edu	37	2	128345966	128345966	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:128345966G>A	ENST00000389524.4	+	15	1743		c.e15-1		MYO7B_ENST00000428314.1_Splice_Site|MYO7B_ENST00000409816.2_Splice_Site			Q6PIF6	MYO7B_HUMAN	myosin VIIB							apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGTCTCCACAGGCTTCCTGGA	0.542000													9	20					0	0	3.86212e-05	0	0
HYDIN	54768	broad.mit.edu	37	16	70871612	70871612	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:70871612C>T	ENST00000393567.2	-	77	13373	c.13223G>A	c.(13222-13224)gGg>gAg	p.G4408E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4408										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)				GGTACCCTTCCCTTTGATTTC	0.458000													16	26					0	0	0.000229342	0	0
LRP1B	53353	broad.mit.edu	37	2	141777598	141777598	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:141777598C>T	ENST00000389484.3	-	12	2834	c.1863G>A	c.(1861-1863)agG>agA	p.R621R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	621					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)		TAATGGTTTTCCTATGGCCAT	0.418000										TSP Lung(27;0.18)			17	20					0	0	9.7654e-05	0	0
OR2A5	393046	broad.mit.edu	37	7	143748394	143748394	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:143748394C>T	ENST00000408906.2	+	1	934	c.900C>T	c.(898-900)gcC>gcT	p.A300A		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCAAGGGTGCCCTGAAAAGAG	0.493000													5	77					0	0	0.000157383	0	0
SPNS3	201305	broad.mit.edu	37	17	4389851	4389851	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:4389851G>A	ENST00000355530.2	+	11	1703	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	SPNS3_ENST00000333476.2_Missense_Mutation_p.E348K	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	475					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GGAGAGAGACGAGACCCGGGC	0.677000													20	9					0	0	0.000586117	0	0
DSG4	147409	broad.mit.edu	37	18	28986203	28986203	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr18:28986203C>T	ENST00000359747.4	+	12	1829	c.1800C>T	c.(1798-1800)gcC>gcT	p.A600A	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.A600A|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	600					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACTCTGGTGCCGCGGGCATCT	0.502000													32	62					0	0	0.000409698	0	0
UNC93A	54346	broad.mit.edu	37	6	167711438	167711438	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:167711438C>T	ENST00000230256.3	+	4	680	c.505C>T	c.(505-507)Ctt>Ttt	p.L169F	UNC93A_ENST00000366829.2_Intron	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	169						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CATAGAGACCCTTCCAGAAGA	0.532000													33	47					0	0	0.000109025	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161438	25161438	+	RNA	SNP	T	T	A	rs3869320	by1000genomes	TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr13:25161438T>A	ENST00000453498.1	+	0	962																											CTCTTTATAATAAGATTCATT	0.378000													6	35					0	0	0.000157383	0	0
NOS1	4842	broad.mit.edu	37	12	117728218	117728218	+	Missense_Mutation	SNP	C	C	T	rs147820513		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:117728218C>T	ENST00000317775.6	-	4	1551	c.866G>A	c.(865-867)gGa>gAa	p.G289E	NOS1_ENST00000344089.3_Missense_Mutation_p.E308K|NOS1_ENST00000338101.4_Missense_Mutation_p.G289E	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	289					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	p.G289E(1)		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)	GGACTGTTTTCCTGAGGTGGG	0.557000													18	18					0	0	9.7654e-05	0	0
FLNB	2317	broad.mit.edu	37	3	58135878	58135878	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:58135878G>C	ENST00000357272.4	+	38	6456	c.6291G>C	c.(6289-6291)gaG>gaC	p.E2097D	FLNB_ENST00000493452.1_Missense_Mutation_p.E1904D|FLNB_ENST00000295956.4_Missense_Mutation_p.E2097D|FLNB_ENST00000490882.1_Missense_Mutation_p.E2128D|FLNB_ENST00000358537.3_Missense_Mutation_p.E2073D|FLNB_ENST00000429972.2_Missense_Mutation_p.E2086D|FLNB_ENST00000348383.5_Intron|FLNB_ENST00000419752.2_Missense_Mutation_p.E1917D			O75369	FLNB_HUMAN	filamin B, beta	2097	Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GAGTCAAAGAGAGCATCACCC	0.597000													52	111					0	0	0.000147903	0	0
OR4P4	81300	broad.mit.edu	37	11	55406440	55406440	+	Silent	SNP	T	T	C			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:55406440T>C	ENST00000314612.2	+	1	607	c.607T>C	c.(607-609)Tta>Cta	p.L203L		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TAATTCAGGCTTAATTGCTTT	0.373000													23	33					0	0	0.000229342	0	0
MIR1324	100302212	broad.mit.edu	37	3	75679939	75679939	+	RNA	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:75679939C>T	ENST00000408868.1	+	0	26					NR_031714.1																						GAAGCCTGGTCCTGCCCTCAC	0.552000													8	47					0	0	6.40141e-05	0	0
MYBPH	4608	broad.mit.edu	37	1	203140242	203140242	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:203140242C>T	ENST00000255416.4	-	6	937	c.880G>A	c.(880-882)Ggc>Agc	p.G294S		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	294	Fibronectin type-III 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TCTGTGTTGCCTGTGTCCTGG	0.607000													22	48					0	0	0.000586117	0	0
SPRR1B	6699	broad.mit.edu	37	1	153004998	153004998	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:153004998C>T	ENST00000307098.4	+	2	242	c.177C>T	c.(175-177)ccC>ccT	p.P59P	SPRR1B_ENST00000392661.3_Intron	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	59	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.C41_P64delCHPKVPEPCHPKVPEPCQPKVPEP(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTGCCAGCCCAAGGTTCCAG	0.617000													34	49					0	0	0.000109025	0	0
MUC16	94025	broad.mit.edu	37	19	9054252	9054252	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:9054252G>A	ENST00000397910.4	-	4	31573	c.31370C>T	c.(31369-31371)tCg>tTg	p.S10457L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10459	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						ACTGGCAGGCGAAGTGGATGT	0.448000													7	5					0	0	0.000157383	0	0
AGA	175	broad.mit.edu	37	4	178358577	178358577	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:178358577G>A	ENST00000264595.2	-	5	731	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	202					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TCATGACCACGATCATCTTCT	0.373000													26	24					0	0	0.000586117	0	0
LOC728554	728554	broad.mit.edu	37	5	177310974	177310974	+	RNA	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:177310974C>T	ENST00000506672.1	+	0	1271					NR_003615.2																						CTGCGCATTTCGTTCTTTTGC	0.463000													8	7					0	0	0.000157383	0	0
MEFV	4210	broad.mit.edu	37	16	3293453	3293453	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:3293453C>T	ENST00000219596.1	-	10	2073	c.2034G>A	c.(2032-2034)ggG>ggA	p.G678G	MEFV_ENST00000536379.1_Silent_p.G467G|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.G498G	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	678	B30.2/SPRY.		G -> E (in arFMF).		inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GAGTCATGTTCCCTTTCCTGC	0.547000													35	58					0	0	0.000191422	0	0
TRGV2	6974	broad.mit.edu	37	7	38402966	38402966	+	RNA	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:38402966G>A	ENST00000426402.2	-	0	153																											AAAGGGACCAGATGAAGAGGA	0.542000													11	9					0	0	3.86212e-05	0	0
PRMT5	10419	broad.mit.edu	37	14	23393554	23393554	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:23393554G>A	ENST00000324366.8	-	11	1347	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F	PRMT5_ENST00000216350.8_Missense_Mutation_p.S314F|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.S269F|PRMT5_ENST00000553897.1_Missense_Mutation_p.S331F|PRMT5_ENST00000397441.2_Missense_Mutation_p.S358F|PRMT5_ENST00000397440.4_Missense_Mutation_p.S204F	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	375					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TGCCCGCAGGGAAGCGTTCAC	0.547000													33	38					0	0	0.000109025	0	0
OR4C15	81309	broad.mit.edu	37	11	55322479	55322479	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:55322479G>A	ENST00000314644.2	+	1	697	c.697G>A	c.(697-699)Gac>Aac	p.D233N		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTTTATGTGTGACTTGTACCC	0.458000										HNSCC(20;0.049)			4	8					0	0	0.00024832	0	0
NBPF1	55672	broad.mit.edu	37	1	16893761	16893761	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:16893761G>A	ENST00000430580.2	-	25	3639	c.2752C>T	c.(2752-2754)Ctt>Ttt	p.L918F	NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	918	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GTCAGTTCAAGATAACCTGAA	0.498000													17	517					0	0	0.000566183	0	0
ADD2	119	broad.mit.edu	37	2	70890787	70890787	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:70890787C>T	ENST00000264436.3	-	16	2395	c.1951G>A	c.(1951-1953)Ggg>Agg	p.G651R	ADD2_ENST00000355733.3_3'UTR|ADD2_ENST00000407644.2_Missense_Mutation_p.G651R	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	651					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TCCTCCCTCCCGTTGACCACC	0.522000													30	50					0	0	0.000339439	0	0
AADAC	13	broad.mit.edu	37	3	151545698	151545698	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:151545698G>A	ENST00000232892.6	+	5	1064	c.938G>A	c.(937-939)gGg>gAg	p.G313E	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	313					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AAATATCCAGGGTTCCTAGAT	0.418000													15	17					0	0	0.000422831	0	0
LRP1	4035	broad.mit.edu	37	12	57579463	57579463	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:57579463G>A	ENST00000243077.3	+	41	7079	c.6613G>A	c.(6613-6615)Gag>Aag	p.E2205K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2205					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)	GCTCTACTCAGAGCGCACCAT	0.637000													8	10					0	0	3.86212e-05	0	0
EPN3	55040	broad.mit.edu	37	17	48614080	48614080	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:48614080G>A	ENST00000268933.3	+	2	742	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	EPN3_ENST00000541226.1_5'UTR|EPN3_ENST00000537145.1_Missense_Mutation_p.E110K	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	55	ENTH.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GGCCTTCACCGAAGTCATGGG	0.597000													63	33					0	0	0.000147903	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713773	32713773	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:32713773C>T	ENST00000374940.3	+	3	639	c.537C>T	c.(535-537)ttC>ttT	p.F179F		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	179	Alpha-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 plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACCTCACCTTCCTCCCTTCTG	0.512000													50	203					0	0	0.000147903	0	0
HIF3A	64344	broad.mit.edu	37	19	46832463	46832463	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:46832463G>A	ENST00000339613.2	+	12	1527		c.e12-1		HIF3A_ENST00000377670.4_Splice_Site|HIF3A_ENST00000244303.6_Splice_Site|HIF3A_ENST00000472815.1_Intron|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000300862.3_Splice_Site|HIF3A_ENST00000420102.2_Splice_Site|HIF3A_ENST00000600383.1_Splice_Site			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GCCCTCCGCAGGATGCTGATG	0.577000													31	42					0	0	0.000159656	0	0
TBXA2R	6915	broad.mit.edu	37	19	3600597	3600597	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:3600597G>A	ENST00000375190.4	-	2	429	c.36C>T	c.(34-36)ttC>ttT	p.F12F	TBXA2R_ENST00000411851.3_Silent_p.F12F|TBXA2R_ENST00000589966.1_Silent_p.F12F	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	12					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	TTGTGGGCCGGAAACAGGGCC	0.672000													10	17					0	0	6.40141e-05	0	0
CANT1	124583	broad.mit.edu	37	17	76993169	76993169	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:76993169G>A	ENST00000302345.2	-	2	1030	c.536C>T	c.(535-537)tCc>tTc	p.S179F	CANT1_ENST00000392446.5_Missense_Mutation_p.S179F|CANT1_ENST00000591773.1_Missense_Mutation_p.S179F	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	179					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	p.S179F(1)	CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GTCATCCACGGAGTAGAGTTT	0.587000			T	ETV4	prostate								99	71					0	0	0.000147903	0	0
GPR98	84059	broad.mit.edu	37	5	90106807	90106807	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:90106807C>T	ENST00000405460.2	+	74	15826	c.15730C>T	c.(15730-15732)Ctt>Ttt	p.L5244F	GPR98_ENST00000425867.2_Missense_Mutation_p.L905F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5244					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGCAGAAGTTCTTATCCGAAG	0.423000													36	42					0	0	0.000319135	0	0
WHSC1	7468	broad.mit.edu	37	4	1957846	1957846	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:1957846C>T	ENST00000382895.3	+	17	3243	c.2812C>T	c.(2812-2814)Ccg>Tcg	p.P938S	WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Missense_Mutation_p.P938S|WHSC1_ENST00000382891.5_Missense_Mutation_p.P938S|WHSC1_ENST00000382892.2_Missense_Mutation_p.P938S|WHSC1_ENST00000382888.3_Missense_Mutation_p.P286S	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	938	PWWP 2.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GCGAGTGTTCCCGTACATGGA	0.498000			T	IGH@	MM								97	111					0	0	0.000147903	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106668007	106668007	+	RNA	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:106668007G>A	ENST00000390606.2	-	0	88																											TAGCAACAAGGAAAACCCAGC	0.483000													45	66					0	0	0.000147903	0	0
SCN9A	6335	broad.mit.edu	37	2	167133802	167133802	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:167133802C>T	ENST00000303354.6	-	16	2908	c.2568G>A	c.(2566-2568)ctG>ctA	p.L856L	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Silent_p.L856L|SCN9A_ENST00000409435.1_Silent_p.L855L|SCN9A_ENST00000409672.1_Silent_p.L844L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	855						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)	TGATCTTAATCAGCATGTTCA	0.398000													9	22					0	0	0.000274275	0	0
DOK7	285489	broad.mit.edu	37	4	3465143	3465143	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:3465143G>A	ENST00000340083.5	+	1	106	c.41G>A	c.(40-42)cGg>cAg	p.R14Q	DOK7_ENST00000389653.2_Missense_Mutation_p.R14Q|DOK7_ENST00000507039.1_Missense_Mutation_p.R14Q	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	14	PH.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GTCAAGCTGCGGGACGGCAAG	0.766000													11	11					0	0	0.000219431	0	0
COQ10A	93058	broad.mit.edu	37	12	56662922	56662922	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:56662922C>T	ENST00000308197.5	+	3	622	c.361C>T	c.(361-363)Ctg>Ttg	p.L121L	COQ10A_ENST00000546544.1_Silent_p.L104L|COQ10A_ENST00000433805.2_Silent_p.L89L|RP11-977G19.14_ENST00000546464.1_RNA	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	121						mitochondrial inner membrane				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						TAAGAAGTCTCTGGTGGTATC	0.502000													64	73					0	0	0.000147903	0	0
OR5H14	403273	broad.mit.edu	37	3	97868313	97868313	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:97868313C>T	ENST00000437310.1	+	1	144	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F28L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TACCCCTGTTCCTGGCATTCT	0.423000													23	30					0	0	0.000159656	0	0
RANBP17	64901	broad.mit.edu	37	5	170648799	170648799	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:170648799G>A	ENST00000523189.1	+	22	2541	c.2377G>A	c.(2377-2379)Gga>Aga	p.G793R	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	793					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)			ATCTCCTAATGGAATTCTTCT	0.328000			T	TRD@	ALL								33	52					0	0	0.000228196	0	0
FAM83B	222584	broad.mit.edu	37	6	54735455	54735455	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:54735455A>T	ENST00000306858.7	+	2	527	c.411A>T	c.(409-411)gaA>gaT	p.E137D		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	137										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CGATAAAAGAAACTATTCGGA	0.363000													16	35					0	0	0.000566183	0	0
CDKN3	1033	broad.mit.edu	37	14	54884627	54884627	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:54884627C>T	ENST00000556102.2	+	7	576	c.510C>T	c.(508-510)agC>agT	p.S170S	CDKN3_ENST00000543789.2_3'UTR|CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000442975.2_Silent_p.S130S|CDKN3_ENST00000395577.2_Silent_p.S124S|CDKN3_ENST00000335183.6_Silent_p.S170S|CDKN3_ENST00000458126.2_Silent_p.S169S			Q16667	CDKN3_HUMAN	cyclin-dependent kinase inhibitor 3	170					cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(2)|stomach(1)	3						CCATAGACAGCCTGCGAGACC	0.453000													8	4					0	0	0.000157383	0	0
MAGI1	9223	broad.mit.edu	37	3	65361455	65361455	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:65361455C>T	ENST00000330909.8	-	19	3244	c.3245G>A	c.(3244-3246)gGa>gAa	p.G1082E	MAGI1_ENST00000402939.2_Missense_Mutation_p.G1054E|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000483466.1_Missense_Mutation_p.G1083E	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1083					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)		AACTGTGTTTCCCGCTTCCTT	0.448000													149	79					0	0	0.000147903	0	0
SLC9A4	389015	broad.mit.edu	37	2	103136335	103136335	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:103136335G>A	ENST00000295269.4	+	9	2196	c.1739G>A	c.(1738-1740)gGa>gAa	p.G580E		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	580					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGGATACAAGGAATCAAAAGA	0.453000													17	22					0	0	0.000175454	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998818	8998818	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:8998818G>A	ENST00000310455.3	-	2	494	c.344C>T	c.(343-345)tCc>tTc	p.S115F	PPP1R3B_ENST00000519699.1_Missense_Mutation_p.S115F	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	115					glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		AGAGGGCTGGGAAAAATCCAG	0.498000													41	46					0	0	0.000228196	0	0
NTS	4922	broad.mit.edu	37	12	86276090	86276090	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:86276090G>A	ENST00000256010.6	+	4	557	c.450G>A	c.(448-450)cgG>cgA	p.R150R	NTS_ENST00000551529.1_Silent_p.R75R	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	150					regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity			large_intestine(2)|lung(6)	8						TTCTGAAACGGCAGCTGTATG	0.323000													69	90					0	0	0.000147903	0	0
MYH14	79784	broad.mit.edu	37	19	50781504	50781504	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:50781504G>A	ENST00000440075.2	+	30	4037	c.3990G>A	c.(3988-3990)gaG>gaA	p.E1330E	MYH14_ENST00000376970.2_Silent_p.E1322E|MYH14_ENST00000262269.8_Silent_p.E1330E|MYH14_ENST00000425460.1_Silent_p.E1297E|MYH14_ENST00000601313.1_Silent_p.E1330E|MYH14_ENST00000598205.1_Silent_p.E1297E|MYH14_ENST00000596571.1_Silent_p.E1289E			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1289					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.E1289D(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GTGATGGGGAGAGGGCACGAG	0.657000													4	5					0	0	0.00024832	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217787	150217787	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:150217787C>T	ENST00000313543.4	+	2	882	c.725C>T	c.(724-726)tCa>tTa	p.S242L		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	242							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)		AAGCATAAATCAGAGGAAGAA	0.284000													35	13					0	0	0.000491102	0	0
PARP12	64761	broad.mit.edu	37	7	139724492	139724492	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:139724492G>A	ENST00000263549.3	-	12	2847	c.1974C>T	c.(1972-1974)ccC>ccT	p.P658P		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	658	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CAAAGATGGAGGGGTCGGACA	0.577000													92	26					0	0	0.000147903	0	0
NLN	57486	broad.mit.edu	37	5	65108166	65108166	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:65108166C>T	ENST00000380985.5	+	12	2106	c.1928C>T	c.(1927-1929)tCc>tTc	p.S643F	NLN_ENST00000502464.1_Missense_Mutation_p.S539F	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	643					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		GAAGTATTTTCCATGGATATG	0.348000													23	33					0	0	0.000375601	0	0
IPO13	9670	broad.mit.edu	37	1	44423214	44423214	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:44423214C>T	ENST00000372343.3	+	7	2195	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	511					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTGTCATGTTCACCATTGGTG	0.552000													33	28					0	0	0.00058488	0	0
WDR76	79968	broad.mit.edu	37	15	44120337	44120337	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:44120337G>A	ENST00000263795.6	+	2	305	c.235G>A	c.(235-237)Gtg>Atg	p.V79M	WDR76_ENST00000381246.2_Missense_Mutation_p.V15M	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	79										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TAACAATGAAGTGGCGTGTAA	0.398000													37	57					0	0	0.00058488	0	0
MAPK4	5596	broad.mit.edu	37	18	48252484	48252484	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr18:48252484G>A	ENST00000400384.2	+	5	2042	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.D125N	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	336					cell cycle		ATP binding|MAP kinase activity	p.D336N(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TGAGATCGACGACATCGTGCT	0.602000													19	30					0	0	0.000132079	0	0
FBXO24	26261	broad.mit.edu	37	7	100192071	100192071	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:100192071G>A	ENST00000241071.6	+	6	1181	c.859G>A	c.(859-861)Gtt>Att	p.V287I	FBXO24_ENST00000468962.1_Missense_Mutation_p.V275I|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.V325I|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.V273I|FBXO24_ENST00000360609.2_Missense_Mutation_p.V273I	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	287						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTCCTACACGGTTCAGCTGGC	0.572000													24	12					0	0	0.000117367	0	0
DNAH2	146754	broad.mit.edu	37	17	7697672	7697672	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:7697672C>T	ENST00000572933.1	+	49	9130	c.7670C>T	c.(7669-7671)cCc>cTc	p.P2557L	DNAH2_ENST00000389173.2_Missense_Mutation_p.P2557L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2557	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATGACCTTCCCCACAGTGAGG	0.612000													15	5					0	0	0.000219431	0	0
CACNA1E	777	broad.mit.edu	37	1	181732607	181732607	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:181732607G>A	ENST00000526775.1	+	33	4863	c.4698G>A	c.(4696-4698)aaG>aaA	p.K1566K	CACNA1E_ENST00000367567.4_Silent_p.K1192K|CACNA1E_ENST00000358338.5_Silent_p.K1517K|CACNA1E_ENST00000357570.5_Silent_p.K1536K|CACNA1E_ENST00000367570.1_Silent_p.K1585K|CACNA1E_ENST00000360108.3_Silent_p.K1566K|CACNA1E_ENST00000367573.2_Silent_p.K1585K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1585					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						GCCTCATAAAGCTCCTGCGTC	0.473000													24	25					0	0	0.00047179	0	0
HAS1	3036	broad.mit.edu	37	19	52217350	52217350	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:52217350G>A	ENST00000540069.2	-	5	1124	c.1064C>T	c.(1063-1065)aCc>aTc	p.T355I	HAS1_ENST00000601714.1_Missense_Mutation_p.T363I|HAS1_ENST00000222115.1_Missense_Mutation_p.T356I|HAS1_ENST00000594621.1_Silent_p.H185H			Q92839	HAS1_HUMAN	hyaluronan synthase 1	356					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGACCTGGAGGTGTACCTGCA	0.637000													8	7					0	0	3.86212e-05	0	0
COL28A1	340267	broad.mit.edu	37	7	7516792	7516792	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:7516792C>T	ENST00000399429.3	-	14	1324	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	395	Collagen-like 3.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCCTGGTACTCCCTCAGGACC	0.498000													27	36					0	0	0.000227799	0	0
SELE	6401	broad.mit.edu	37	1	169698386	169698386	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:169698386G>A	ENST00000333360.7	-	7	1170	c.1031C>T	c.(1030-1032)cCa>cTa	p.P344L	SELE_ENST00000367776.1_Missense_Mutation_p.P344L|SELE_ENST00000367774.1_Missense_Mutation_p.P344L|SELE_ENST00000367782.4_Missense_Mutation_p.P344L|SELE_ENST00000367777.1_Missense_Mutation_p.P344L|SELE_ENST00000367781.4_Missense_Mutation_p.P344L|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.P282L|SELE_ENST00000367775.1_Missense_Mutation_p.P282L|SELE_ENST00000367779.4_Missense_Mutation_p.P344L	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	344	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AACCTGGGCTGGTCCCTGCAA	0.488000													16	41					0	0	0.000566183	0	0
FGD5	152273	broad.mit.edu	37	3	14861656	14861656	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:14861656G>A	ENST00000285046.5	+	1	1188	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	FGD5_ENST00000543601.1_Missense_Mutation_p.E119K	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	360					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						TTTTTGCAGCGAGAGCTGTTC	0.527000													25	33					0	0	0.000117367	0	0
OBP2B	29989	broad.mit.edu	37	9	136082650	136082650	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:136082650C>T	ENST00000372032.2	-	4	260	c.217G>A	c.(217-219)Gca>Aca	p.A73T	OBP2B_ENST00000372034.3_Silent_p.Q117Q|OBP2B_ENST00000461961.1_5'UTR			Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	0					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CCCCATGGTGCTGGTCTTTGC	0.587000													16	4					0	0	0.000566183	0	0
C1orf127	148345	broad.mit.edu	37	1	11008296	11008296	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:11008296G>A	ENST00000377004.4	-	12	1895	c.1896C>T	c.(1894-1896)ctC>ctT	p.L632L	C1orf127_ENST00000377008.4_Silent_p.L465L	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	483										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCTCCCTGGGGAGACCAGGCC	0.647000													31	57					0	0	0.000491102	0	0
TRIM24	8805	broad.mit.edu	37	7	138239559	138239559	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:138239559C>T	ENST00000343526.4	+	9	1593	c.1378C>T	c.(1378-1380)Cca>Tca	p.P460S	TRIM24_ENST00000415680.2_Missense_Mutation_p.P460S|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	460					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						ATCCAAGTTCCCAACACAGAT	0.498000													7	99					0	0	8.12818e-05	0	0
LENG8	114823	broad.mit.edu	37	19	54966176	54966176	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:54966176C>T	ENST00000326764.5	+	7	1205	c.726C>T	c.(724-726)ccC>ccT	p.P242P	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	205			R -> P (in dbSNP:rs35061854).				protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGAAGCGACCCTTTGCTGTTA	0.597000													11	20					0	0	6.40141e-05	0	0
FAP	2191	broad.mit.edu	37	2	163039979	163039979	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:163039979C>T	ENST00000188790.4	-	21	2022		c.e21-1		FAP_ENST00000443424.1_Splice_Site	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha						endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TATGAATTTTCTAAAGTAAAA	0.284000													17	19					0	0	7.07596e-05	0	0
TLL1	7092	broad.mit.edu	37	4	166996085	166996085	+	Silent	SNP	G	G	A	rs115884871	byFrequency	TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:166996085G>A	ENST00000061240.2	+	17	2891	c.2244G>A	c.(2242-2244)acG>acA	p.T748T	TLL1_ENST00000507499.1_Silent_p.T771T	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	748	EGF-like 2; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GTGTCAACACGATGGGGAGCT	0.383000													26	35					0	0	0.00047179	0	0
NACA	4666	broad.mit.edu	37	12	57109777	57109777	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:57109777G>A	ENST00000454682.1	-	3	5818	c.5537C>T	c.(5536-5538)cCg>cTg	p.P1846L	NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.P693L|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GATTGGTTCCGGGGGAATCAG	0.572000			T	BCL6	NHL								4	51					0	0	0.00024832	0	0
NARS2	79731	broad.mit.edu	37	11	78147746	78147746	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:78147746G>A	ENST00000281038.5	-	14	1779	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	NARS2_ENST00000528850.1_Silent_p.F241F|RP11-452H21.1_ENST00000534168.1_RNA	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	468					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GAAACCTTGGGAAAGGGATAA	0.458000													108	131					0	0	0.000147903	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42292362	42292362	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:42292362G>A	ENST00000399518.3	-	8	1278	c.792C>T	c.(790-792)taC>taT	p.Y264Y	PLA2G4E_ENST00000413860.2_Silent_p.Y235Y	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	257					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)		AGTACTTGGGGTAGTGGAAGC	0.612000													4	6					0	0	1.23904e-05	0	0
SPAG5	10615	broad.mit.edu	37	17	26919504	26919504	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:26919504G>A	ENST00000321765.5	-	3	1090	c.758C>T	c.(757-759)gCc>gTc	p.A253V		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	253					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TGCTGCCAAGGCAGTTGAAGG	0.498000													23	42					0	0	0.000295444	0	0
ASTN2	23245	broad.mit.edu	37	9	119903672	119903672	+	Silent	SNP	G	G	A	rs140458736	by1000genomes	TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:119903672G>A	ENST00000313400.4	-	4	1201	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Silent_p.I367I|ASTN2_ENST00000361209.2_Intron			O75129	ASTN2_HUMAN	astrotactin 2	367						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						GCAGCTGACCGATCTCGATGG	0.587000													17	4					0	0	0.000566183	0	0
FRY	10129	broad.mit.edu	37	13	32745229	32745229	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr13:32745229G>A	ENST00000380250.3	+	18	2469	c.1973G>A	c.(1972-1974)tGg>tAg	p.W658*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	658					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTCTCAGATTGGAGGGAAGAT	0.418000													37	65					0	0	0.000132358	0	0
INHBB	3625	broad.mit.edu	37	2	121106908	121106908	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:121106908A>T	ENST00000295228.3	+	2	728	c.682A>T	c.(682-684)Acc>Tcc	p.T228S		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	228					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CGGCTGGCATACCTTCCCACT	0.632000													57	80					0	0	0.000147903	0	0
CELSR1	9620	broad.mit.edu	37	22	46760441	46760441	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:46760441A>G	ENST00000262738.3	-	33	8746	c.8747T>C	c.(8746-8748)cTt>cCt	p.L2916P		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2916					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			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)		GCTGCTAGCAAGCCTGGCTGC	0.682000													12	43					0	0	0.000151284	0	0
FAM161B	145483	broad.mit.edu	37	14	74411480	74411480	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:74411480G>A	ENST00000286544.3	-	3	870	c.672C>T	c.(670-672)agC>agT	p.S224S	FAM161B_ENST00000534936.1_Silent_p.S161S	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						AGGAGCTGACGCTTCTGTGCT	0.652000													15	15					0	0	0.000308642	0	0
KMT2C	58508	broad.mit.edu	37	7	151900066	151900066	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:151900066G>A	ENST00000355193.2	-	26	4263	c.4045C>T	c.(4045-4047)Cga>Tga	p.R1349*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.R1349*					lysine (K)-specific methyltransferase 2C																		TTCCTTTTTCGGTATCTCTTC	0.318000													9	34					0	0	0.000274275	0	0
UGT2B11	10720	broad.mit.edu	37	4	70079874	70079874	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr4:70079874G>A	ENST00000446444.1	-	1	575	c.567C>T	c.(565-567)ttC>ttT	p.F189F	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	189					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGAAGGAGGGAAAATCAGTC	0.403000													9	3					0	0	0.000442599	0	0
LAMB3	3914	broad.mit.edu	37	1	209796360	209796360	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:209796360G>A	ENST00000391911.1	-	16	2912	c.2523C>T	c.(2521-2523)ggC>ggT	p.G841G	LAMB3_ENST00000367030.3_Silent_p.G841G|LAMB3_ENST00000356082.4_Silent_p.G841G	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	841	Domain I.				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)		GGGCATTGAAGCCCCGCAGCT	0.667000													55	60					0	0	0.000147903	0	0
XKR4	114786	broad.mit.edu	37	8	56436522	56436522	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:56436522C>T	ENST00000327381.5	+	3	1789	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	563						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			ATCAGAAATTCGCAGAGCGGG	0.567000													25	15					0	0	0.00047179	0	0
ABCC9	10060	broad.mit.edu	37	12	21964988	21964988	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:21964988G>A	ENST00000261200.4	-	34	4205	c.4206C>T	c.(4204-4206)tcC>tcT	p.S1402S	ABCC9_ENST00000345162.2_Silent_p.S1366S|ABCC9_ENST00000261201.4_Silent_p.S1402S	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1402	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCTACCTAATGGAACCACTGA	0.373000													12	23					0	0	0.00010058	0	0
PAPPA2	60676	broad.mit.edu	37	1	176659394	176659394	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:176659394C>T	ENST00000367662.3	+	5	3423	c.2259C>T	c.(2257-2259)tcC>tcT	p.S753S	PAPPA2_ENST00000367661.3_Silent_p.S753S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	753	Metalloprotease.				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						AAAGAGAATCCTGCAATGACC	0.547000													38	44					0	0	0.000270559	0	0
MYH9	4627	broad.mit.edu	37	22	36700073	36700073	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:36700073G>A	ENST00000216181.5	-	19	2588	c.2358C>T	c.(2356-2358)ttC>ttT	p.F786F		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	786	IQ.				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						AGCAGGCCTGGAACCCTATGA	0.622000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				19	28					0	0	0.000375601	0	0
MYO18B	84700	broad.mit.edu	37	22	26423017	26423017	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:26423017G>A	ENST00000335473.7	+	43	7327	c.7077G>A	c.(7075-7077)ccG>ccA	p.P2359P	MYO18B_ENST00000536101.1_Silent_p.P2359P|MYO18B_ENST00000407587.2_Silent_p.P2360P	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2359						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						AATCCAGACCGAGCATGGGGA	0.567000													27	59					0	0	0.000279167	0	0
KHNYN	23351	broad.mit.edu	37	14	24901147	24901147	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:24901147C>T	ENST00000251343.5	+	3	819	c.680C>T	c.(679-681)cCc>cTc	p.P227L	KHNYN_ENST00000556842.1_Missense_Mutation_p.P227L|KHNYN_ENST00000553935.1_Missense_Mutation_p.P227L			O15037	KHNYN_HUMAN	KH and NYN domain containing	227										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GTGAGAGCTCCCCCTAGTGAC	0.642000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	45					0	0	0.000147903	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12884979	12884979	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:12884979C>T	ENST00000535591.1	-	4	1327	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	378										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CCATAACTTTCCTGCGGGGCA	0.502000													127	151					0	0	0.000147903	0	0
CYP2B6	1555	broad.mit.edu	37	19	41518266	41518266	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:41518266G>A	ENST00000324071.4	+	7	1035	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	CYP2B6_ENST00000593831.1_Missense_Mutation_p.R107Q|CYP2B6_ENST00000330446.5_Missense_Mutation_p.R143Q	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	343					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)	CTTCATGACCGAGCCAAAATG	0.483000													22	28					0	0	0.000375601	0	0
MACF1	23499	broad.mit.edu	37	1	39916822	39916822	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:39916822C>T	ENST00000564288.1	+	85	21134	c.20357C>T	c.(20356-20358)gCt>gTt	p.A6786V	MACF1_ENST00000317713.7_Missense_Mutation_p.A4727V|MACF1_ENST00000289893.4_Missense_Mutation_p.A5229V|MACF1_ENST00000361689.2_Missense_Mutation_p.A4727V|MACF1_ENST00000545844.1_Missense_Mutation_p.A4727V|MACF1_ENST00000372915.3_Missense_Mutation_p.A6685V|MACF1_ENST00000539005.1_Missense_Mutation_p.A4597V|MACF1_ENST00000567887.1_Missense_Mutation_p.A6823V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6793					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)			CCACAGCTGGCTGAGGACCAG	0.562000													48	45					0	0	0.000147903	0	0
NGLY1	55768	broad.mit.edu	37	3	25777523	25777523	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:25777523G>A	ENST00000280700.5	-	7	1281	c.1121C>T	c.(1120-1122)tCc>tTc	p.S374F	NGLY1_ENST00000396649.3_Missense_Mutation_p.S374F|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000428257.1_Intron|NGLY1_ENST00000417874.2_Missense_Mutation_p.S332F	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	374					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TATGACATAGGAAAGCTTCTT	0.368000													21	23					0	0	0.00047179	0	0
DSCAM	1826	broad.mit.edu	37	21	41385160	41385160	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr21:41385160G>A	ENST00000400454.1	-	33	6317	c.5840C>T	c.(5839-5841)cCg>cTg	p.P1947L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1947				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGCTTCCATCGGGATGGGCTC	0.657000													19	27					0	0	9.7654e-05	0	0
CAPSL	133690	broad.mit.edu	37	5	35910027	35910027	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:35910027C>T	ENST00000397367.2	-	4	592	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	CAPSL_ENST00000514524.1_Missense_Mutation_p.E156K|CAPSL_ENST00000397366.1_Missense_Mutation_p.E156K	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	156	EF-hand 4.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			AATACTTGTTCCTCACTCCAT	0.378000													55	79					0	0	0.000147903	0	0
TRPC6	7225	broad.mit.edu	37	11	101375406	101375406	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:101375406C>T	ENST00000344327.3	-	2	718	c.294G>A	c.(292-294)gaG>gaA	p.E98E	TRPC6_ENST00000532133.1_Silent_p.E98E|TRPC6_ENST00000348423.4_Silent_p.E98E|TRPC6_ENST00000360497.4_Silent_p.E98E	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	98					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)		AGCGTTCCTCCTCTATAGATA	0.483000													28	39					0	0	9.22233e-05	0	0
EPHB4	2050	broad.mit.edu	37	7	100403198	100403198	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:100403198G>A	ENST00000358173.3	-	15	3071	c.2603C>T	c.(2602-2604)cCc>cTc	p.P868L	EPHB4_ENST00000360620.3_Missense_Mutation_p.P868L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	868	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GACCACCTGGGGGAAGCGGGG	0.662000													12	75					0	0	0.000151284	0	0
MYH1	4619	broad.mit.edu	37	17	10399767	10399767	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:10399767C>T	ENST00000226207.5	-	34	4850	c.4756G>A	c.(4756-4758)Gaa>Aaa	p.E1586K	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	1586						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						TGGTCAATTTCCTCATCTTTT	0.453000													61	13					0	0	0.000147903	0	0
CSHL1	1444	broad.mit.edu	37	17	61987461	61987461	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:61987461C>T	ENST00000450719.3	-	3	487	c.250G>A	c.(250-252)Gag>Aag	p.E84K	CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Missense_Mutation_p.E95K|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000346606.6_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						CAGTGTTTCTCTCCCCCAGCC	0.562000													28	77					0	0	0.000184323	0	0
ATG10	83734	broad.mit.edu	37	5	81549195	81549195	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:81549195C>T	ENST00000282185.3	+	7	908	c.614C>T	c.(613-615)cCt>cTt	p.P205L	ATG10_ENST00000458350.3_Missense_Mutation_p.P205L|ATG10_ENST00000514253.2_Intron	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	205					autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		CTGAATCTACCTCTGAGTTAT	0.413000													48	67					0	0	0.000147903	0	0
KIF20B	9585	broad.mit.edu	37	10	91484826	91484826	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:91484826C>T	ENST00000416354.1	+	15	1984	c.1912C>T	c.(1912-1914)Cgt>Tgt	p.R638C	KIF20B_ENST00000260753.4_Missense_Mutation_p.R638C|KIF20B_ENST00000371728.3_Missense_Mutation_p.R638C|KIF20B_ENST00000394289.2_Missense_Mutation_p.R638C|KIF20B_ENST00000478929.1_3'UTR			Q96Q89	KI20B_HUMAN	kinesin family member 20B	638					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TGCTGAACGTCGTTTGGCTAT	0.363000													35	36					0	0	0.000270559	0	0
THEMIS	387357	broad.mit.edu	37	6	128134390	128134390	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:128134390G>A	ENST00000368250.1	-	5	1657	c.1159C>T	c.(1159-1161)Ctt>Ttt	p.L387F	THEMIS_ENST00000368248.2_Missense_Mutation_p.L466F|THEMIS_ENST00000543064.1_Missense_Mutation_p.L466F|THEMIS_ENST00000537166.1_Missense_Mutation_p.L431F			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	466	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						TCAATGGAAAGATCCCTGACA	0.468000													17	22					0	0	0.000422831	0	0
MUC4	4585	broad.mit.edu	37	3	195516204	195516204	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:195516204C>T	ENST00000463781.3	-	2	2706	c.2247G>A	c.(2245-2247)ggG>ggA	p.G749G	MUC4_ENST00000475231.1_Silent_p.G749G|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	754					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTTCTGGGCCCCCTGGTGTTG	0.602000													47	54					0	0	0.000147903	0	0
B4GALNT3	283358	broad.mit.edu	37	12	667718	667718	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:667718C>T	ENST00000266383.5	+	18	2665	c.2652C>T	c.(2650-2652)ttC>ttT	p.F884F		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	884						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ACATCCACTTCCCAGCTGGAG	0.597000													46	36					0	0	0.000147903	0	0
IL22RA1	58985	broad.mit.edu	37	1	24447457	24447457	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:24447457G>A	ENST00000270800.1	-	7	1601	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	521						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GGTCCGAGGGGGAACATGGAC	0.627000													16	27					0	0	0.000422831	0	0
DICER1	23405	broad.mit.edu	37	14	95582790	95582790	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:95582790C>T	ENST00000526495.1	-	12	2043	c.1752_splice	c.e12+1	p.K584_splice	DICER1_ENST00000343455.3_Splice_Site_p.K584_splice|DICER1_ENST00000393063.1_Splice_Site_p.K584_splice|DICER1_ENST00000527414.1_Splice_Site_p.K584_splice|DICER1_ENST00000541352.1_Splice_Site_p.K584_splice			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	584	Helicase C-terminal.|Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTGATCTTACCTTTTCAATAG	0.328000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				49	64					0	0	0.000147903	0	0
SDPR	8436	broad.mit.edu	37	2	192701226	192701226	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:192701226G>A	ENST00000304141.4	-	2	1030	c.701C>T	c.(700-702)tCc>tTc	p.S234F		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	234						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CTTCAGGCTGGATCTTTTTAT	0.473000													77	83					0	0	0.000147903	0	0
SHANK2	22941	broad.mit.edu	37	11	70332561	70332561	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:70332561C>T	ENST00000338508.4	-	32	3839	c.3840G>A	c.(3838-3840)gaG>gaA	p.E1280E	SHANK2_ENST00000423696.2_Silent_p.E900E|SHANK2_ENST00000409161.1_Silent_p.E683E|SHANK2_ENST00000449833.2_Silent_p.E684E			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	900					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)			CGTACTTGTTCTCCGTCTCCT	0.597000													30	41					0	0	0.000339439	0	0
VWA3B	200403	broad.mit.edu	37	2	98779420	98779420	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:98779420C>T	ENST00000477737.1	+	8	1299	c.1095C>T	c.(1093-1095)gaC>gaT	p.D365D	VWA3B_ENST00000451075.2_Silent_p.D215D|VWA3B_ENST00000435344.1_Silent_p.D365D	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	365										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCAAGCCCGACGTGGCCACTG	0.567000													37	54					0	0	0.000147903	0	0
KIF19	124602	broad.mit.edu	37	17	72340934	72340934	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:72340934G>A	ENST00000389916.4	+	7	755	c.617G>A	c.(616-618)aGg>aAg	p.R206K		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	206	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AACCGGCAGAGGACCCAGGAG	0.667000													30	67					0	0	0.00058488	0	0
CCDC88C	440193	broad.mit.edu	37	14	91770235	91770235	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:91770235C>T	ENST00000389857.6	-	20	3531	c.3445G>A	c.(3445-3447)Gag>Aag	p.E1149K		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1149					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)				CTTTCGTTCTCCGTCTCCTTG	0.647000													27	31					0	0	0.000227799	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269319	150269319	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:150269319A>T	ENST00000255945.2	+	3	336	c.161A>T	c.(160-162)aAa>aTa	p.K54I	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.K68I	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	54							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTGGCCGGAAAGTGTTTCAT	0.468000													19	12					0	0	0.000132079	0	0
SUCO	51430	broad.mit.edu	37	1	172501615	172501615	+	Translation_Start_Site	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:172501615G>A	ENST00000367723.3	+	1	127	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		CCAATCAGATGAGAGGATTCT	0.498000													7	12					0	0	8.12818e-05	0	0
PTPRT	11122	broad.mit.edu	37	20	40944419	40944419	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:40944419G>A	ENST00000373198.3	-	12	2318	c.2083C>T	c.(2083-2085)Ctc>Ttc	p.L695F	PTPRT_ENST00000373201.1_Missense_Mutation_p.L695F|PTPRT_ENST00000373193.3_Missense_Mutation_p.L695F|PTPRT_ENST00000373187.1_Missense_Mutation_p.L695F|PTPRT_ENST00000373190.1_Missense_Mutation_p.L695F|PTPRT_ENST00000356100.2_Missense_Mutation_p.L695F|PTPRT_ENST00000373184.1_Missense_Mutation_p.L695F	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	695	Fibronectin type-III 4.				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)				AGGGGAGAGAGAGGAGGGTTC	0.498000													35	35					0	0	0.000132358	0	0
CUBN	8029	broad.mit.edu	37	10	16960672	16960672	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:16960672G>A	ENST00000377833.4	-	45	7014	c.6949C>T	c.(6949-6951)Cga>Tga	p.R2317*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2317	CUB 16.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGTCAGATCGAAATCTCAAA	0.413000													16	31					0	0	9.7654e-05	0	0
PTPRT	11122	broad.mit.edu	37	20	41306677	41306677	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr20:41306677G>A	ENST00000373198.3	-	7	1217	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	PTPRT_ENST00000373201.1_Missense_Mutation_p.R328C|PTPRT_ENST00000373193.3_Missense_Mutation_p.R328C|PTPRT_ENST00000373187.1_Missense_Mutation_p.R328C|PTPRT_ENST00000373190.1_Missense_Mutation_p.R328C|PTPRT_ENST00000356100.2_Missense_Mutation_p.R328C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R328C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	328	Fibronectin type-III 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	p.R328C(1)		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)				GTGGTGGTGCGATATTCCACT	0.562000													34	47					0	0	0.000109025	0	0
IGHV3-73	28409	broad.mit.edu	37	14	107211377	107211377	+	RNA	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr14:107211377C>T	ENST00000390636.2	-	0	94																											AAACCCAGCTCAGCCCAAACT	0.517000													55	65					0	0	0.000147903	0	0
PLGLA	285189	broad.mit.edu	37	2	107007371	107007371	+	RNA	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:107007371C>T	ENST00000484422.1	+	0	220																											GTGTATCTTTCAGAGTGCAAG	0.453000													10	10					0	0	0.00010058	0	0
DOCK1	1793	broad.mit.edu	37	10	129237336	129237336	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:129237336C>T	ENST00000280333.6	+	49	5152	c.5043C>T	c.(5041-5043)tcC>tcT	p.S1681S		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1681					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACTCCAGGTCCCAGGACAAGC	0.448000													3	1					0	0	6.4e-05	0	0
AGBL1	123624	broad.mit.edu	37	15	86807930	86807930	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:86807930G>A	ENST00000441037.2	+	10	1485	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N	AGBL1_ENST00000421325.2_Missense_Mutation_p.D464N|AGBL1_ENST00000389298.3_Missense_Mutation_p.D195N	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	464					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						CCCTTTCCACGATCCCTATCT	0.473000													56	73					0	0	0.000147903	0	0
RUNX2	860	broad.mit.edu	37	6	45459784	45459784	+	Silent	SNP	G	G	A	rs12173874		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:45459784G>A	ENST00000371438.1	+	5	1150	c.792G>A	c.(790-792)caG>caA	p.Q264Q	RUNX2_ENST00000371432.3_Silent_p.Q250Q|RUNX2_ENST00000371436.6_Silent_p.Q264Q|RUNX2_ENST00000352853.5_Silent_p.Q332Q|RUNX2_ENST00000465038.2_Silent_p.Q264Q|RUNX2_ENST00000576263.1_Silent_p.Q264Q|RUNX2_ENST00000541979.1_Silent_p.Q332Q|RUNX2_ENST00000359524.5_Silent_p.Q250Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	264	Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCCCGCCTCAGAACCCACGGC	0.488000													64	36					0	0	0.000147903	0	0
SPTA1	6708	broad.mit.edu	37	1	158654952	158654952	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:158654952C>T	ENST00000368148.3	-	2	390	c.210G>A	c.(208-210)atG>atA	p.M70I	SPTA1_ENST00000368147.3_Missense_Mutation_p.M70I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	70					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)					TGACTTTCTCCATGATCCACT	0.453000													9	6					0	0	0.000274275	0	0
OR4A16	81327	broad.mit.edu	37	11	55111634	55111634	+	Missense_Mutation	SNP	C	C	T	rs78935813		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:55111634C>T	ENST00000314721.2	+	1	1008	c.958C>T	c.(958-960)Cct>Tct	p.P320S		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CATATTTATTCCTAGTTCTAA	0.348000													4	7					0	0	3.59834e-05	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124228431	124228431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:124228431C>T	ENST00000330342.3	+	10	1386	c.1138C>T	c.(1138-1140)Cag>Tag	p.Q380*		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	380					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CGAGGGATTTCAGAACATCGT	0.458000													48	65					0	0	0.000147903	0	0
ABCB1	5243	broad.mit.edu	37	7	87180059	87180059	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:87180059G>A	ENST00000265724.3	-	11	1512	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	ABCB1_ENST00000543898.1_Silent_p.I301I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	365					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTATCTTGAAGATTTCATAAG	0.378000													23	11					0	0	0.000295444	0	0
ABCC11	85320	broad.mit.edu	37	16	48234320	48234320	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:48234320G>A	ENST00000394747.1	-	14	2298	c.1949C>T	c.(1948-1950)tCc>tTc	p.S650F	ABCC11_ENST00000394748.1_Missense_Mutation_p.S650F|ABCC11_ENST00000356608.2_Missense_Mutation_p.S650F|ABCC11_ENST00000353782.5_Missense_Mutation_p.S650F|ABCC11_ENST00000537808.1_Missense_Mutation_p.S650F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	650	ABC transporter 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)				CTGACGGTCGGAATAGACGGC	0.592000													13	22					0	0	0.000219431	0	0
CCNT1	904	broad.mit.edu	37	12	49087100	49087100	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:49087100G>A	ENST00000261900.3	-	9	2119	c.1897C>T	c.(1897-1899)Cgt>Tgt	p.R633C		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	633					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	p.R633C(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						TGAGGGACACGAGTTTTACAG	0.488000													21	31					0	0	0.000175454	0	0
CDH7	1005	broad.mit.edu	37	18	63511244	63511244	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr18:63511244G>A	ENST00000536984.2	+	7	1872	c.1178G>A	c.(1177-1179)gGg>gAg	p.G393E	CDH7_ENST00000323011.3_Missense_Mutation_p.G393E|CDH7_ENST00000397968.2_Missense_Mutation_p.G393E			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	393	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ACCCAGGTTGGGAATATCATT	0.448000													20	43					0	0	0.000175454	0	0
CSMD2	114784	broad.mit.edu	37	1	34087804	34087804	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:34087804G>A	ENST00000373381.4	-	37	5966	c.5790C>T	c.(5788-5790)atC>atT	p.I1930I	CSMD2_ENST00000373380.1_Silent_p.I803I|CSMD2_ENST00000373388.2_Silent_p.I29I|CSMD2_ENST00000373377.1_Silent_p.I29I	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1890	Sushi 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)				CAGATACGCTGATATCTGAGT	0.517000													60	89					0	0	0.000147903	0	0
PSG8	440533	broad.mit.edu	37	19	43268142	43268142	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:43268142G>A	ENST00000404209.4	-	2	452	c.356C>T	c.(355-357)tCc>tTc	p.S119F	PSG8_ENST00000401467.2_Missense_Mutation_p.S119F|PSG8_ENST00000306511.4_Missense_Mutation_p.S119F|PSG8_ENST00000406636.3_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	119	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TAAGGTGTAGGATCCTGCGTC	0.443000													128	157					0	0	0.000147903	0	0
GPR37L1	9283	broad.mit.edu	37	1	202097202	202097202	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:202097202A>C	ENST00000367282.4	+	2	1070	c.964A>C	c.(964-966)Atc>Ctc	p.I322L		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	322						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CTGCCTGCCCATCCTCTTCAC	0.607000													23	20					0	0	0.000117367	0	0
CSMD1	64478	broad.mit.edu	37	8	3047478	3047478	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:3047478G>A	ENST00000602557.1	-	35	5912	c.5357C>T	c.(5356-5358)cCc>cTc	p.P1786L	CSMD1_ENST00000539096.1_Missense_Mutation_p.P1785L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000520002.1_Missense_Mutation_p.P1786L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1786L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1786L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1785L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1785L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1786	Sushi 10.					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)		CAAGGCGTTGGGCACGGACTG	0.602000													4	1					0	0	1.23904e-05	0	0
USP43	124739	broad.mit.edu	37	17	9632019	9632019	+	Silent	SNP	C	C	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:9632019C>G	ENST00000570827.2	+	15	3225	c.2151C>G	c.(2149-2151)ggC>ggG	p.G717G	USP43_ENST00000570475.1_Silent_p.G1023G|USP43_ENST00000285199.6_Silent_p.G1028G			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	1028					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TGGTGAGTGGCGGGCTGAGCC	0.672000													9	0					0	0	0.000442599	0	0
DISP2	85455	broad.mit.edu	37	15	40659729	40659729	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:40659729G>A	ENST00000267889.3	+	8	1503	c.1416G>A	c.(1414-1416)atG>atA	p.M472I		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	472	SSD.				smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		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;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCACTGGCATGGACCTGGGCC	0.622000													48	52					0	0	0.000147903	0	0
OR51B6	390058	broad.mit.edu	37	11	5372888	5372888	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:5372888C>T	ENST00000380219.1	+	1	151	c.151C>T	c.(151-153)Cat>Tat	p.H51Y	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGAATGATCATAACCTCCA	0.463000													26	33					0	0	0.000227799	0	0
PHF21B	112885	broad.mit.edu	37	22	45309868	45309868	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:45309868G>A	ENST00000313237.5	-	5	815	c.665C>T	c.(664-666)cCt>cTt	p.P222L	PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000403565.1_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	222							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		gaggggtgaaggggacagtga	0.647000													25	35					0	0	0.00047179	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38184340	38184340	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:38184340C>A	ENST00000317025.8	-	7	2133	c.1616G>T	c.(1615-1617)gGg>gTg	p.G539V	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.G539V|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.G539V|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.G539V	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	539					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CCTGTCTTGCCCCCTGACACT	0.403000			T	NUP98	AML								37	46					3.76114e-14	6.5165e-13	0.000132358	1	0
R3HDM1	23518	broad.mit.edu	37	2	136479545	136479545	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:136479545C>T	ENST00000264160.4	+	24	3198	c.2828C>T	c.(2827-2829)gCt>gTt	p.A943V	R3HDM1_ENST00000409606.1_Missense_Mutation_p.A944V|R3HDM1_ENST00000410054.1_Missense_Mutation_p.A888V|R3HDM1_ENST00000329971.3_Missense_Mutation_p.A814V|R3HDM1_ENST00000409478.1_Missense_Mutation_p.A815V	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	943							nucleic acid binding	p.A943V(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AATCCTCCTGCTGTTCTGCAC	0.468000													28	41					0	0	0.000491102	0	0
CCDC30	728621	broad.mit.edu	37	1	43119503	43119503	+	Missense_Mutation	SNP	G	G	A	rs147050676		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:43119503G>A	ENST00000428554.2	+	23	3299	c.2156G>A	c.(2155-2157)gGt>gAt	p.G719D	CCDC30_ENST00000390640.4_Missense_Mutation_p.G508D|CCDC30_ENST00000342022.4_Missense_Mutation_p.G719D|CCDC30_ENST00000340612.4_Missense_Mutation_p.G719D|CCDC30_ENST00000507855.1_Missense_Mutation_p.G508D			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	719										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TCAGGAAAAGGTTTGGTAGAG	0.403000													23	20					0	0	9.22233e-05	0	0
SYT15	83849	broad.mit.edu	37	10	46967721	46967721	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:46967721C>T	ENST00000374323.3	-	3	1102	c.514_splice	c.e3-1	p.G172_splice	SYT15_ENST00000503753.1_Splice_Site_p.G119_splice|SYT15_ENST00000374325.3_Splice_Site_p.G119_splice|SYT15_ENST00000374321.4_Splice_Site_p.G119_splice			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	119	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						ACATGCATCTCCTATGACAGA	0.637000													26	114					0	0	0.000227799	0	0
GPR142	350383	broad.mit.edu	37	17	72367905	72367905	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:72367905C>T	ENST00000335666.4	+	4	603	c.555C>T	c.(553-555)gcC>gcT	p.A185A		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	185						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CGCGCCTTGCCACCAGGACCA	0.627000													19	38					0	0	0.000132079	0	0
SLC38A3	10991	broad.mit.edu	37	3	50255384	50255384	+	RNA	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:50255384C>T	ENST00000420502.1	+	0	1044							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CCTTCGCCTTCGTCTGCCACC	0.617000													13	34					0	0	0.000308642	0	0
MAP2	4133	broad.mit.edu	37	2	210559009	210559009	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:210559009G>A	ENST00000360351.4	+	7	2621	c.2115G>A	c.(2113-2115)ccG>ccA	p.P705P	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Silent_p.P701P	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	705			P -> L (in a colorectal cancer sample; somatic mutation).		central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TCAATTTGCCGATGTCTTGCC	0.433000													43	47					0	0	0.000147903	0	0
RBL2	5934	broad.mit.edu	37	16	53487496	53487496	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:53487496C>G	ENST00000262133.6	+	6	1036	c.899C>G	c.(898-900)cCc>cGc	p.P300R	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Missense_Mutation_p.P84R	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	300					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTCTGGAAACCCTATATTAGG	0.358000													173	170					0	0	0.000147903	0	0
TRPM2	7226	broad.mit.edu	37	21	45799003	45799003	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr21:45799003C>T	ENST00000397928.1	+	8	1583	c.1138C>T	c.(1138-1140)Cag>Tag	p.Q380*	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Nonsense_Mutation_p.Q380*|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.Q380*|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.Q380*	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	380						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTCCCTGATCCAGCAGAAACT	0.597000													37	42					0	0	0.000159656	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161457	25161457	+	RNA	SNP	G	G	A	rs1851732	by1000genomes	TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr13:25161457G>A	ENST00000453498.1	+	0	981																											TTATTTATTCGATTCGTGGTA	0.378000													5	32					0	0	8.12818e-05	0	0
LIFR	3977	broad.mit.edu	37	5	38527298	38527298	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:38527298C>T	ENST00000263409.4	-	4	518	c.356G>A	c.(355-357)gGa>gAa	p.G119E	LIFR_ENST00000453190.2_Missense_Mutation_p.G119E|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	119	Fibronectin type-III 1.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGTAGAACTTCCAAAATCATG	0.303000			T	PLAG1	salivary adenoma								8	12					0	0	0.000274275	0	0
LILRP2	79166	broad.mit.edu	37	19	55224589	55224589	+	RNA	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:55224589C>T	ENST00000413439.1	+	0	1769																											CTTGGTCCACCATCCCCAGCC	0.612000													4	9					0	0	0.00024832	0	0
MUC4	4585	broad.mit.edu	37	3	195516819	195516819	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:195516819C>T	ENST00000463781.3	-	2	2091	c.1632G>A	c.(1630-1632)gaG>gaA	p.E544E	MUC4_ENST00000475231.1_Silent_p.E544E|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	549					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ATGTGGTGGGCTCTCCTGGTT	0.562000													74	70					0	0	0.000147903	0	0
ANKS1B	56899	broad.mit.edu	37	12	99222980	99222980	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:99222980C>T	ENST00000547776.2	-	19	3037	c.3038G>A	c.(3037-3039)cGa>cAa	p.R1013Q	ANKS1B_ENST00000550693.2_Intron|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000332712.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000341752.7_Missense_Mutation_p.R19Q|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R1013Q|ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000549558.2_Intron|ANKS1B_ENST00000549493.2_Missense_Mutation_p.R239Q|ANKS1B_ENST00000333732.7_Missense_Mutation_p.R19Q|ANKS1B_ENST00000546960.1_Missense_Mutation_p.R239Q|ANKS1B_ENST00000547446.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1013						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CAGTTTTGATCGGGGAATATC	0.428000													106	123					0	0	0.000147903	0	0
INO80	54617	broad.mit.edu	37	15	41365680	41365680	+	Silent	SNP	A	A	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:41365680A>G	ENST00000361937.3	-	11	1765	c.1341T>C	c.(1339-1341)ttT>ttC	p.F447F	INO80_ENST00000401393.3_Silent_p.F447F			Q9ULG1	INO80_HUMAN	INO80 complex subunit	447	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCTGGGCTTTAAAATGGTTAC	0.368000													31	42					0	0	0.000491102	0	0
EXT1	2131	broad.mit.edu	37	8	118819584	118819584	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:118819584G>A	ENST00000378204.2	-	9	2561	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	585					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TCCTCTCAGGGAAGCTCTGCC	0.507000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				13	18					0	0	0.000219431	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187694550	187694550	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:187694550C>T	ENST00000295131.2	-	8	1038	c.999G>A	c.(997-999)aaG>aaA	p.K333K		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	333					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GCTTACTATTCTTAGTAATCA	0.388000													9	11					0	0	0.000442599	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904447	73904447	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:73904447C>T	ENST00000342056.2	+	15	2564	c.2166C>T	c.(2164-2166)taC>taT	p.Y722Y	KCNQ5_ENST00000355194.4_Silent_p.Y703Y|KCNQ5_ENST00000402622.2_Silent_p.Y713Y|KCNQ5_ENST00000355635.3_Silent_p.Y704Y|KCNQ5_ENST00000403813.2_Silent_p.Y694Y|KCNQ5_ENST00000414165.2_Silent_p.Y593Y|KCNQ5_ENST00000370398.1_Silent_p.Y703Y	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	703					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AGACTTTCTACGCGCTTAGCC	0.493000													48	59					0	0	0.000147903	0	0
OSR2	116039	broad.mit.edu	37	8	99963037	99963037	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:99963037C>T	ENST00000523368.1	+	3	1306	c.810C>T	c.(808-810)tgC>tgT	p.C270C	OSR2_ENST00000435298.2_Intron|OSR2_ENST00000457907.2_Intron|OSR2_ENST00000522510.1_Intron|OSR2_ENST00000297565.4_Intron			Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	0					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			ATCATTACTGCTTTGCAAAAG	0.358000													8	6					0	0	0.000157383	0	0
DNAJC14	85406	broad.mit.edu	37	12	56221260	56221260	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:56221260G>A	ENST00000357606.3	-	3	1472	c.1183C>T	c.(1183-1185)Cag>Tag	p.Q395*	DNAJC14_ENST00000317287.5_Nonsense_Mutation_p.Q395*|DNAJC14_ENST00000317269.3_Nonsense_Mutation_p.Q395*|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.S24L			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	395					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CAGCCCCACTGAACTATTCTT	0.552000													47	58					0	0	0.000147903	0	0
OR1A2	26189	broad.mit.edu	37	17	3101329	3101329	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:3101329G>A	ENST00000381951.1	+	1	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TGGCAACCAGGAAGTAGCCAA	0.478000													40	4					0	0	0.000589545	0	0
GUCA1B	2979	broad.mit.edu	37	6	42152631	42152631	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:42152631C>T	ENST00000230361.3	-	4	620	c.525G>A	c.(523-525)tgG>tgA	p.W175*		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	175	EF-hand 4.				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)			TCTTCATCACCCACTTGTCCC	0.577000													48	76					0	0	0.000147903	0	0
ATG2A	23130	broad.mit.edu	37	11	64663933	64663933	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:64663933C>T	ENST00000421419.2	-	39	5548		c.e39+1		ATG2A_ENST00000377264.3_Splice_Site			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A								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						CACCCACTCACCTGGATAGCC	0.637000													8	6					0	0	0.000157383	0	0
STAB2	55576	broad.mit.edu	37	12	104084292	104084292	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:104084292C>T	ENST00000388887.2	+	30	3477	c.3273C>T	c.(3271-3273)ttC>ttT	p.F1091F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1091	FAS1 3.				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						AGGGCAACTTCCTTCACTTGG	0.403000													27	45					0	0	0.000227799	0	0
MPP7	143098	broad.mit.edu	37	10	28420578	28420578	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr10:28420578C>T	ENST00000337532.5	-	7	634	c.358G>A	c.(358-360)Gac>Aac	p.D120N	MPP7_ENST00000540098.1_Missense_Mutation_p.D120N|MPP7_ENST00000375719.3_Missense_Mutation_p.D120N|MPP7_ENST00000375732.1_Missense_Mutation_p.D120N|MPP7_ENST00000445954.2_5'UTR|MPP7_ENST00000481244.1_5'UTR	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	120	L27 2.				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						AACACTGGGTCGTAATTCTTC	0.358000													29	34					0	0	0.000409698	0	0
EPB41	2035	broad.mit.edu	37	1	29319972	29319972	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:29319972C>T	ENST00000343067.4	+	3	726	c.599C>T	c.(598-600)tCc>tTc	p.S200F	EPB41_ENST00000398863.2_Missense_Mutation_p.S200F|EPB41_ENST00000373797.1_Missense_Mutation_p.S200F|EPB41_ENST00000373798.1_Missense_Mutation_p.S200F|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000356093.2_Missense_Mutation_p.S200F|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Missense_Mutation_p.S200F	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	200					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)		TTAAAAGCTTCCCAAAAACCA	0.363000													41	46					0	0	0.000228196	0	0
CALR3	125972	broad.mit.edu	37	19	16590041	16590041	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:16590041C>T	ENST00000269881.3	-	9	1118	c.1056G>A	c.(1054-1056)atG>atA	p.M352I	CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	352	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						GGGCCTTCTTCATTTCCTCCT	0.483000													45	60					0	0	0.000147903	0	0
MYO3B	140469	broad.mit.edu	37	2	171260857	171260857	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr2:171260857C>T	ENST00000334231.6	+	20	2405	c.2405C>T	c.(2404-2406)gCa>gTa	p.A802V	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.A793V|MYO3B_ENST00000408978.4_Missense_Mutation_p.A793V			Q8WXR4	MYO3B_HUMAN	myosin IIIB	793	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGACTGCTTGCACTTTTGGAT	0.473000													18	31					0	0	7.07596e-05	0	0
CYP11A1	1583	broad.mit.edu	37	15	74636268	74636268	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr15:74636268G>A	ENST00000358632.4	-	4	912	c.217C>T	c.(217-219)Cag>Tag	p.Q73*	CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000268053.6_Nonsense_Mutation_p.Q231*|CYP11A1_ENST00000419019.2_Nonsense_Mutation_p.Q73*	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	231					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	ATGAATCGCTGGGCCTCGGGG	0.562000													44	57					0	0	0.000147903	0	0
PRKCB	5579	broad.mit.edu	37	16	24135269	24135269	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:24135269C>T	ENST00000303531.7	+	9	1184	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	PRKCB_ENST00000321728.7_Silent_p.F344F	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	344	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	ATTTTAACTTCCTAATGGTGC	0.478000													94	101					0	0	0.000147903	0	0
PRLR	5618	broad.mit.edu	37	5	35065415	35065415	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:35065415C>T	ENST00000382002.5	-	10	2071	c.1645G>A	c.(1645-1647)Gtg>Atg	p.V549M	PRLR_ENST00000342362.5_Missense_Mutation_p.V448M|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.V448M|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_3'UTR	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	549					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ACCCCGGACACCTTGGCATAC	0.498000													30	32					0	0	0.000184323	0	0
NFE2L3	9603	broad.mit.edu	37	7	26225170	26225170	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr7:26225170G>A	ENST00000056233.3	+	4	2111	c.1852G>A	c.(1852-1854)Gaa>Aaa	p.E618K		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	618	Leucine-zipper.				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AGCAAAGAAGGAAACTCTTAA	0.328000													13	23					0	0	0.00010058	0	0
OR14A16	284532	broad.mit.edu	37	1	247978618	247978618	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:247978618G>A	ENST00000357627.1	-	1	413	c.414C>T	c.(412-414)acC>acT	p.T138T		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T138T(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TTTGGACACAGGTGCTCCTGT	0.527000													37	48					0	0	0.00058488	0	0
HFM1	164045	broad.mit.edu	37	1	91843681	91843681	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr1:91843681C>T	ENST00000370425.3	-	11	1394	c.1296G>A	c.(1294-1296)atG>atA	p.M432I	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.M111I	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	432	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTACAGTTTTCATTCTGCTAA	0.348000													12	10					0	0	0.000151284	0	0
NUAK1	9891	broad.mit.edu	37	12	106460902	106460902	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr12:106460902C>G	ENST00000261402.2	-	7	3043	c.1664G>C	c.(1663-1665)gGt>gCt	p.G555A		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													23	28					0	0	0.000229342	0	0
MYH15	22989	broad.mit.edu	37	3	108183485	108183485	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:108183485C>T	ENST00000273353.3	-	16	1847	c.1791_splice	c.e16+1	p.V597_splice		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	597	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GGTAACTCACCACTCCTGCAT	0.398000													41	68					0	0	0.000589545	0	0
CLTCL1	8218	broad.mit.edu	37	22	19223300	19223300	+	Silent	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr22:19223300G>A	ENST00000263200.10	-	6	960	c.888C>T	c.(886-888)aaC>aaT	p.N296N	CLTCL1_ENST00000427926.1_Silent_p.N296N|CLTCL1_ENST00000353891.5_Silent_p.N296N	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	296	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CACTAATACGGTTCATGCAGA	0.408000			T	?	ALCL								72	95					0	0	0.000147903	0	0
QSER1	79832	broad.mit.edu	37	11	32954769	32954769	+	Silent	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr11:32954769C>T	ENST00000399302.2	+	4	1913	c.1578C>T	c.(1576-1578)tcC>tcT	p.S526S	QSER1_ENST00000527788.1_Silent_p.S287S	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	526	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CTTTTGCATCCTCTACTCATT	0.403000													34	41					0	0	0.000191422	0	0
CRISP3	10321	broad.mit.edu	37	6	49705064	49705064	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr6:49705064G>A	ENST00000433368.2	-	2	184	c.115C>T	c.(115-117)Cca>Tca	p.P39S	CRISP3_ENST00000263045.4_Missense_Mutation_p.P29S|CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000393666.1_Missense_Mutation_p.P16S|CRISP3_ENST00000371159.4_Missense_Mutation_p.P47S	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	16					innate immune response	proteinaceous extracellular matrix|specific granule				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)			GGAAAAGATGGAAGCAGCCCA	0.418000													8	63					0	0	3.86212e-05	0	0
SLC14A2	8170	broad.mit.edu	37	18	43224013	43224013	+	Silent	SNP	G	G	A	rs149835341		TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr18:43224013G>A	ENST00000255226.6	+	10	2055	c.1239G>A	c.(1237-1239)acG>acA	p.T413T	SLC14A2_ENST00000586448.1_Silent_p.T413T	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	413						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCTCCTGACGACAAACAACC	0.542000													54	109					0	0	0.000147903	0	0
COL7A1	1294	broad.mit.edu	37	3	48626159	48626159	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:48626159C>T	ENST00000328333.8	-	19	2610	c.2503G>A	c.(2503-2505)Gaa>Aaa	p.E835K	COL7A1_ENST00000454817.1_Missense_Mutation_p.E835K	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	835	Fibronectin type-III 7.|Nonhelical region (NC1).				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)		ACTCCACCTTCGAGACCCCGG	0.602000													54	16					0	0	0.000147903	0	0
EMC2	9694	broad.mit.edu	37	8	109468135	109468135	+	Silent	SNP	T	T	A			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr8:109468135T>A	ENST00000220853.3	+	5	374	c.339T>A	c.(337-339)atT>atA	p.I113I		NM_014673.3	NP_055488.1			ER membrane protein complex subunit 2																		ATGATAGGATTTTACAAGAAG	0.234000													7	46					0	0	0.000157383	0	0
GPR98	84059	broad.mit.edu	37	5	89931004	89931004	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr5:89931004A>G	ENST00000405460.2	+	10	2009	c.1913A>G	c.(1912-1914)aAt>aGt	p.N638S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	638					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAAATCTGCAATATTTCTTTA	0.358000													20	19					0	0	0.000132079	0	0
ATP2C1	27032	broad.mit.edu	37	3	130673915	130673917	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr3:130673915_130673917delAGC	ENST00000510168.1	+	10	1297_1299	c.747_749delAGC	c.(745-750)caa>ca	p.QA249del	ATP2C1_ENST00000504381.1_In_Frame_Del_p.QA194del|ATP2C1_ENST00000428331.2_In_Frame_Del_p.QA249del|ATP2C1_ENST00000513801.1_In_Frame_Del_p.QA233del|ATP2C1_ENST00000533801.2_In_Frame_Del_p.QA244del|ATP2C1_ENST00000393221.4_In_Frame_Del_p.QA283del|ATP2C1_ENST00000507488.2_In_Frame_Del_p.QA233del|ATP2C1_ENST00000359644.3_In_Frame_Del_p.QA249del|ATP2C1_ENST00000328560.8_In_Frame_Del_p.QA249del|ATP2C1_ENST00000508532.1_In_Frame_Del_p.QA249del|ATP2C1_ENST00000505330.1_In_Frame_Del_p.QA233del|ATP2C1_ENST00000504948.1_In_Frame_Del_p.QA233del|ATP2C1_ENST00000422190.2_In_Frame_Del_p.QA249del			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	249					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	AAATGATGCAAGCAGAAGAGGTG	0.320									Hailey-Hailey disease				13	25	---	---	---	---					
KIAA0368	23392	broad.mit.edu	37	9	114131447	114131448	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr9:114131447_114131448insT	ENST00000259335.4	-	47	5513_5514	c.5514_5515insA	c.(5512-5517)tcttgafs	p.*1839fs	KIAA0368_ENST00000374378.3_Intron|KIAA0368_ENST00000465499.1_5'UTR|KIAA0368_ENST00000338205.5_Frame_Shift_Ins_p.*1661fs	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CTGCTTTCAAGTGAGTTCTAGG	0.411													14	5	---	---	---	---					
PDXDC1	23042	broad.mit.edu	37	16	15111005	15111006	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr16:15111005_15111006delTA	ENST00000396410.4	+	10	938_939	c.841_842delTA	c.(841-843)tfs	p.Y281fs	PDXDC1_ENST00000535621.2_Frame_Shift_Del_p.Y281fs|PDXDC1_ENST00000325823.7_Frame_Shift_Del_p.Y266fs|PDXDC1_ENST00000569715.1_Frame_Shift_Del_p.Y254fs|PDXDC1_ENST00000450288.2_Frame_Shift_Del_p.Y253fs|PDXDC1_ENST00000447912.2_Frame_Shift_Del_p.Y190fs|PDXDC1_ENST00000563679.1_Frame_Shift_Del_p.Y299fs|PDXDC1_ENST00000455313.2_Frame_Shift_Del_p.Y258fs	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	281					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GGCTCTGGGTTATGTCTCCTCA	0.356													105	415	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578206	7578207	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr17:7578206_7578207delTA	ENST00000420246.2	-	6	774_775	c.642_643delTA	c.(640-645)cagtfs	p.HS214fs	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.HS214fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.HS214fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.HS214fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.HS214fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.HS214fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	214	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; 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.0?(8)|p.S215G(6)|p.S215C(5)|p.?(5)|p.H214Q(4)|p.S215R(2)|p.H214fs*5(2)|p.H214fs*7(1)|p.S215fs*27(1)|p.S215del(1)|p.H214_S215insX(1)|p.D208_V216delDRNTFRHSV(1)|p.H214H(1)|p.S215fs*29(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.S215fs*32(1)|p.S215fs*31(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*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)		ACCACCACACTATGTCGAAAAG	0.540		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)			7	7	---	---	---	---					
TYK2	7297	broad.mit.edu	37	19	10463113	10463113	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D3-A1QA-06A-11D-A196-08	TCGA-D3-A1QA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25b5baab-3714-45ec-b5e2-30bb4527914d	2f342244-54db-4cbf-941e-da8ecd837c0e	g.chr19:10463113delG	ENST00000525621.1	-	23	3796	c.3315delC	c.(3313-3315)ccfs	p.P1105fs	TYK2_ENST00000524462.1_Frame_Shift_Del_p.P920fs|TYK2_ENST00000529422.1_Intron|TYK2_ENST00000264818.6_Frame_Shift_Del_p.P1105fs	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1105	Protein kinase 2.				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)			CTCTCACCGTGGGGGGGCTCT	0.602													54	107	---	---	---	---					
