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
OR10S1	219873	broad.mit.edu	37	11	123847523	123847523	+	Silent	SNP	G	G	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr11:123847523G>T	ENST00000531945.1	-	1	965	c.876C>A	c.(874-876)atC>atA	p.I292I		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTGGAGTTACGATTGTGTAGA	0.537000													33	76					2.49991e-28	3.77987e-28	0.003271	1	0
CST1	1469	broad.mit.edu	37	20	23731396	23731396	+	Missense_Mutation	SNP	G	G	T	rs143815991		TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr20:23731396G>T	ENST00000304749.2	-	1	178	c.108C>A	c.(106-108)aaC>aaA	p.N36K	CST1_ENST00000398402.1_Missense_Mutation_p.N36K	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	36						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TGAGGTCTGCGTTATAGATGC	0.572000													7	63					1.12685e-05	1.52125e-05	0.004482	1	0
NF1	4763	broad.mit.edu	37	17	29586061	29586061	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:29586061T>A	ENST00000358273.4	+	33	4727	c.4344T>A	c.(4342-4344)agT>agA	p.S1448R	NF1_ENST00000356175.3_Missense_Mutation_p.S1427R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1448	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TACTTCAGAGTATTGCCAATC	0.313000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			4	14					0	0	0.000602	0	0
C20orf26	26074	broad.mit.edu	37	20	20054956	20054956	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr20:20054956C>G	ENST00000245957.5	+	4	381	c.305C>G	c.(304-306)aCg>aGg	p.T102R	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.T102R|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.T102R	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	102										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCCCTGAATACGTTGTTCATG	0.512000													33	113					0	0	0.004289	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44217786	44217786	+	Silent	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr6:44217786G>A	ENST00000371554.1	+	5	757	c.543G>A	c.(541-543)gtG>gtA	p.V181V	HSP90AB1_ENST00000353801.3_Silent_p.V181V|HSP90AB1_ENST00000371646.5_Silent_p.V181V			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	181					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTACCAAAGTGATCCTCCATC	0.438000													23	78					0	0	0.012319	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130281312	130281312	+	Splice_Site	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr11:130281312C>T	ENST00000257359.6	-	6	2456	c.1750_splice	c.e6+1	p.G584_splice		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	584	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TGGTAATTACCGTCAGGGGGG	0.587000													13	30					0	0	0.001855	0	0
UBA6	55236	broad.mit.edu	37	4	68499067	68499067	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr4:68499067T>C	ENST00000322244.4	-	23	2197	c.2138A>G	c.(2137-2139)cAt>cGt	p.H713R		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	713					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ACTTACCTTATGGTTAAAATA	0.303000													21	58					0	0	0.014323	0	0
CD2AP	23607	broad.mit.edu	37	6	47563619	47563619	+	Silent	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr6:47563619G>A	ENST00000359314.5	+	12	1587	c.1131G>A	c.(1129-1131)caG>caA	p.Q377Q		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	377	Pro-rich.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			CACTGGAACAGAAACCTTCTA	0.353000													25	190					0	0	0.006320	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140616079	140616079	+	RNA	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:140616079G>A	ENST00000526308.1	+	0	2142					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GCGAGCCTCCGCGCTCGGCCA	0.716000													11	50					0	0	0.002450	0	0
TRIM24	8805	broad.mit.edu	37	7	138239468	138239468	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr7:138239468G>T	ENST00000343526.4	+	9	1502	c.1287G>T	c.(1285-1287)gaG>gaT	p.E429D	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.E429D			O15164	TIF1A_HUMAN	tripartite motif containing 24	429					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						AGGATAAAGAGAGCCAGCCAC	0.373000													10	113					1.58986e-06	2.19332e-06	0.008291	1	0
MEX3D	399664	broad.mit.edu	37	19	1556787	1556787	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr19:1556787G>T	ENST00000402693.4	-	2	730	c.731C>A	c.(730-732)gCc>gAc	p.A244D	MEX3D_ENST00000388824.6_Missense_Mutation_p.A244D	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	244					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GAAGTGTTCGGCCGCCGACAG	0.687000													19	49					3.51602e-12	5.15137e-12	0.008871	1	0
STX12	23673	broad.mit.edu	37	1	28144385	28144385	+	Silent	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:28144385G>A	ENST00000373943.4	+	7	725	c.600G>A	c.(598-600)caG>caA	p.Q200Q		NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	200	t-SNARE coiled-coil homology.				cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		ATGTCAATCAGATATTTAAAG	0.348000													6	27					0	0	0.003080	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													3	54					0	0	0.004672	0	0
MUC4	4585	broad.mit.edu	37	3	195511959	195511959	+	Silent	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:195511959G>A	ENST00000463781.3	-	2	6951	c.6492C>T	c.(6490-6492)acC>acT	p.T2164T	MUC4_ENST00000475231.1_Silent_p.T2164T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	943					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)		AGGAAGTGTCGGTGACAGGAA	0.577000													3	13					0	0	0.004672	0	0
SPTLC1	10558	broad.mit.edu	37	9	94794749	94794749	+	Nonstop_Mutation	SNP	A	A	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr9:94794749A>G	ENST00000262554.2	-	15	1425	c.1420T>C	c.(1420-1422)Tag>Cag	p.*474Q		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	0						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GACTCTGCCTAGAGCAGGACG	0.582000													11	45					0	0	0.008291	0	0
FAM20A	54757	broad.mit.edu	37	17	66536060	66536060	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:66536060C>T	ENST00000592554.1	-	9	1989	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N	PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	423						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					AGGAACCCATCATCCCCGAAC	0.567000													8	49					0	0	0.004482	0	0
NXF5	55998	broad.mit.edu	37	X	101092616	101092616	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chrX:101092616C>T	ENST00000537026.1	-	15	1289	c.930G>A	c.(928-930)agG>agA	p.R310R	NXF5_ENST00000361708.2_Silent_p.R310R|NXF5_ENST00000473265.2_Silent_p.R310R	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	310	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TTAGCAGCTTCCTCTGCAGGT	0.527000													5	72					0	0	0.000602	0	0
URB2	9816	broad.mit.edu	37	1	229794895	229794895	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:229794895C>T	ENST00000258243.2	+	10	4562	c.4426C>T	c.(4426-4428)Ctc>Ttc	p.L1476F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1476						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGGCATTTACCTCATCCTGGA	0.517000													54	127					0	0	0.014410	0	0
SHANK2	22941	broad.mit.edu	37	11	70319378	70319378	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr11:70319378C>G	ENST00000338508.4	-	33	5148	c.5149G>C	c.(5149-5151)Gag>Cag	p.E1717Q	SHANK2_ENST00000423696.2_Missense_Mutation_p.E1337Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.E1120Q|SHANK2_ENST00000449833.2_Missense_Mutation_p.E1121Q			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1337					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)			TTGTTCATCTCTGTTGGCGAG	0.632000													26	420					0	0	0.004656	0	0
WDR33	55339	broad.mit.edu	37	2	128471233	128471233	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:128471233C>T	ENST00000322313.4	-	18	3390	c.3232G>A	c.(3232-3234)Gaa>Aaa	p.E1078K		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1078					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTGCGGCCTTCCCATGCCCCC	0.677000													33	128					0	0	0.010818	0	0
EEF1E1	9521	broad.mit.edu	37	6	8102741	8102741	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr6:8102741G>A	ENST00000379715.5	-	1	70	c.14C>T	c.(13-15)gCa>gTa	p.A5V	EEF1E1_ENST00000429723.2_Missense_Mutation_p.A5V|EEF1E1-MUTED_ENST00000397456.2_Missense_Mutation_p.A5V|EEF1E1_ENST00000507463.1_Missense_Mutation_p.A5V	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	5					negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					CGACAACTCTGCGGCCGCCGC	0.607000													6	47					0	0	0.003080	0	0
LRRC37A2	474170	broad.mit.edu	37	17	44626341	44626341	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:44626341T>C	ENST00000576629.1	+	10	4331	c.3836T>C	c.(3835-3837)aTt>aCt	p.I1279T	ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000445552.2_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.I1279T|ARL17A_ENST00000329240.4_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1279						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		ACCCACGCTATTTCCATTTTA	0.468000													18	96					0	0	0.002780	0	0
TFAP2B	7021	broad.mit.edu	37	6	50810853	50810853	+	Silent	SNP	G	G	A	rs140849621		TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr6:50810853G>A	ENST00000263046.4	+	8	1324	c.1158G>A	c.(1156-1158)ccG>ccA	p.P386P	TFAP2B_ENST00000393655.3_Silent_p.P377P			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	377				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ACCGGACACCGATAGGGAACA	0.592000													60	142					0	0	0.014410	0	0
CREBRF	153222	broad.mit.edu	37	5	172517748	172517748	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:172517748A>G	ENST00000540014.1	+	4	885	c.566A>G	c.(565-567)aAg>aGg	p.K189R	CREBRF_ENST00000520420.1_Missense_Mutation_p.K189R|CREBRF_ENST00000296953.2_Missense_Mutation_p.K189R|CREBRF_ENST00000522692.1_Missense_Mutation_p.K189R			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	189							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										TGTTCTTCTAAGACTCTGCAG	0.438000													8	26					0	0	0.004482	0	0
CDH2	1000	broad.mit.edu	37	18	25532209	25532209	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr18:25532209T>G	ENST00000269141.3	-	16	3052	c.2629A>C	c.(2629-2631)Agt>Cgt	p.S877R	CDH2_ENST00000399380.3_Missense_Mutation_p.S846R	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	877	Ser-rich.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCACCACTACTTGAGGAATTA	0.507000											OREG0003876	type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	15	95					0	0	0.003163	0	0
CUL3	8452	broad.mit.edu	37	2	225378279	225378279	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:225378279C>G	ENST00000264414.4	-	5	954	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	CUL3_ENST00000344951.4_Missense_Mutation_p.E140Q|CUL3_ENST00000409096.1_Missense_Mutation_p.E182Q|CUL3_ENST00000409777.1_Missense_Mutation_p.E182Q	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	206					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AAAGGAGCCTCAAAATCTTCT	0.308000													5	24					0	0	0.001984	0	0
ZNF271P	10778	broad.mit.edu	37	18	32887551	32887551	+	RNA	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr18:32887551C>T	ENST00000399070.3	+	0	1945					NR_024565.1|NR_024566.1															large_intestine(3)|lung(9)	12						GTTCTGATCTCATTAACCATC	0.433000													17	41					0	0	0.004007	0	0
SI	6476	broad.mit.edu	37	3	164737435	164737435	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:164737435C>T	ENST00000264382.3	-	28	3440	c.3378G>A	c.(3376-3378)ctG>ctA	p.L1126L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1126	Sucrase.				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)	TATTCCAGTTCAGATCTCGCT	0.433000										HNSCC(35;0.089)			38	158					0	0	0.004289	0	0
MEX3D	399664	broad.mit.edu	37	19	1556788	1556788	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr19:1556788C>T	ENST00000402693.4	-	2	729	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	MEX3D_ENST00000388824.6_Missense_Mutation_p.A244T	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	244					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		AAGTGTTCGGCCGCCGACAGG	0.687000													18	52					0	0	0.007413	0	0
NEURL2	140825	broad.mit.edu	37	20	44519120	44519120	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr20:44519120G>C	ENST00000372518.4	-	1	806	c.511C>G	c.(511-513)Ctc>Gtc	p.L171V		NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	171	NHR.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				TGGTCCAAGAGATGGCTGTAG	0.657000											OREG0025985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	77					0	0	0.006214	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939015	2939015	+	Silent	SNP	G	G	A	rs145991951		TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:2939015G>A	ENST00000378404.2	+	1	970	c.765G>A	c.(763-765)ccG>ccA	p.P255P		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	255						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TCGGGGACCCGCTGCACCAGG	0.657000													11	62					0	0	0.013537	0	0
CCR3	1232	broad.mit.edu	37	3	46307687	46307687	+	Silent	SNP	A	A	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:46307687A>T	ENST00000357422.2	+	4	1581	c.1038A>T	c.(1036-1038)acA>acT	p.T346T	CCR3_ENST00000545097.1_Silent_p.T367T|CCR3_ENST00000395942.2_Silent_p.T346T|CCR3_ENST00000395940.2_Silent_p.T346T|CCR3_ENST00000541018.1_Silent_p.T346T			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	346					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CTCCATCCACAGCAGAGCCGG	0.488000													14	28					0	0	0.004990	0	0
CDYL2	124359	broad.mit.edu	37	16	80654799	80654799	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr16:80654799C>T	ENST00000299564.8	-	4	1023	c.868G>A	c.(868-870)Gca>Aca	p.A290T	CDYL2_ENST00000563890.1_Missense_Mutation_p.A291T|CDYL2_ENST00000562812.1_Missense_Mutation_p.A291T|CDYL2_ENST00000566173.1_Missense_Mutation_p.A291T	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	290						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TCTGTGGCTGCGTTGCAGAGC	0.557000													9	40					0	0	0.004482	0	0
SNX16	64089	broad.mit.edu	37	8	82713776	82713776	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr8:82713776C>T	ENST00000396330.2	-	9	1497	c.991G>A	c.(991-993)Gag>Aag	p.E331K	SNX16_ENST00000345957.4_Missense_Mutation_p.E331K|RP13-923O23.6_ENST00000524337.1_RNA|SNX16_ENST00000353788.4_Missense_Mutation_p.E302K	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN	sorting nexin 16	331					cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						ACTTCTATCTCTGATACAGCA	0.353000													5	107					0	0	0.001168	0	0
NOTCH2	4853	broad.mit.edu	37	1	120512221	120512221	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:120512221C>A	ENST00000256646.2	-	6	1240	c.1021G>T	c.(1021-1023)Gat>Tat	p.D341Y		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	341	EGF-like 9; 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)		AAGGCACAATCATCAATGTTC	0.562000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				14	57					6.31663e-08	8.97626e-08	0.003163	1	0
PRRC2C	23215	broad.mit.edu	37	1	171549100	171549100	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:171549100A>G	ENST00000367742.3	+	28	7648	c.7406A>G	c.(7405-7407)tAt>tGt	p.Y2469C	PRRC2C_ENST00000338920.4_Missense_Mutation_p.Y2467C|PRRC2C_ENST00000392078.3_Missense_Mutation_p.Y2469C|PRRC2C_ENST00000426496.2_Missense_Mutation_p.Y2402C			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2467	Gln-rich.						protein C-terminus binding										CTTCAACCATATAGGTAAATG	0.448000													4	25					0	0	0.009096	0	0
DHRS7	51635	broad.mit.edu	37	14	60622827	60622827	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr14:60622827C>T	ENST00000216500.5	-	3	632	c.177G>A	c.(175-177)tcG>tcA	p.S59S	PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000557185.1_Silent_p.S59S|DHRS7_ENST00000536410.2_Silent_p.S9S|PCNXL4_ENST00000406949.1_Intron			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	59							binding|oxidoreductase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		CAATTCCACTCGAGGCTCCAG	0.448000													10	86					0	0	0.010729	0	0
CLIP1	6249	broad.mit.edu	37	12	122839067	122839067	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr12:122839067G>A	ENST00000358808.2	-	7	1394	c.1240C>T	c.(1240-1242)Cga>Tga	p.R414*	CLIP1_ENST00000302528.7_Nonsense_Mutation_p.R414*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.R414*|CLIP1_ENST00000545889.1_Nonsense_Mutation_p.R115*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.R414*|CLIP1_ENST00000540338.1_Nonsense_Mutation_p.R414*	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	414					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)		ACCATTGTTCGCAGCTGGTCC	0.507000													12	60					0	0	0.013537	0	0
SLC4A8	9498	broad.mit.edu	37	12	51883736	51883736	+	Splice_Site	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr12:51883736G>A	ENST00000453097.2	+	19	2917		c.e19+1		SLC4A8_ENST00000358657.3_Splice_Site	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8						bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TATCTTAAAGGTAATCATCCT	0.468000													10	64					0	0	0.010729	0	0
MRPS30	10884	broad.mit.edu	37	5	44813292	44813292	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:44813292G>A	ENST00000507110.1	+	4	976	c.938G>A	c.(937-939)aGa>aAa	p.R313K		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	313					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					AGGCTTTTGAGACAAAACTGT	0.393000													4	42					0	0	0.009096	0	0
LRRC37B	114659	broad.mit.edu	37	17	30349724	30349724	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:30349724T>G	ENST00000327564.7	+	1	1701	c.1640T>G	c.(1639-1641)aTa>aGa	p.I547R	LRRC37B_ENST00000584368.1_Missense_Mutation_p.I532R|LRRC37B_ENST00000543378.2_Missense_Mutation_p.I438R|LRRC37B_ENST00000341671.7_Missense_Mutation_p.I520R|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000394713.3_Missense_Mutation_p.I520R			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	520						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AGCACCAACATATGTGAGCTC	0.537000													57	164					0	0	0.014410	0	0
SRRT	51593	broad.mit.edu	37	7	100484783	100484783	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr7:100484783G>A	ENST00000388793.4	+	15	2154	c.1934G>A	c.(1933-1935)cGg>cAg	p.R645Q	SRRT_ENST00000347433.4_Missense_Mutation_p.R646Q|SRRT_ENST00000432932.1_Missense_Mutation_p.R645Q|SRRT_ENST00000457580.2_Missense_Mutation_p.R646Q	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	646					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ATCCACGTTCGGGGGCCCATG	0.602000													26	184					0	0	0.007291	0	0
NAALADL2	254827	broad.mit.edu	37	3	175184818	175184818	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:175184818G>A	ENST00000454872.1	+	8	1507	c.1379G>A	c.(1378-1380)gGa>gAa	p.G460E	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	460					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AGTTATAATGGACAAGAATGG	0.408000													7	555					0	0	0.003080	0	0
LARGE	9215	broad.mit.edu	37	22	34157394	34157394	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr22:34157394T>C	ENST00000354992.2	-	3	641	c.70A>G	c.(70-72)Atc>Gtc	p.I24V	LARGE_ENST00000437602.2_Missense_Mutation_p.I24V|LARGE_ENST00000337431.2_Missense_Mutation_p.I24V|LARGE_ENST00000397394.2_Missense_Mutation_p.I24V|LARGE_ENST00000402320.1_Missense_Mutation_p.I24V	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	24					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				ATCCAGGTGATGGCTGGGATG	0.507000													24	100					0	0	0.003954	0	0
AKAP1	8165	broad.mit.edu	37	17	55196358	55196358	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:55196358C>T	ENST00000337714.3	+	10	2823	c.2590C>T	c.(2590-2592)Cca>Tca	p.P864S	AKAP1_ENST00000571629.1_Missense_Mutation_p.P864S|AKAP1_ENST00000572557.1_Missense_Mutation_p.P864S|AKAP1_ENST00000539273.1_Missense_Mutation_p.P864S	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	864					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AAGTTACAGTCCAACTGGTCT	0.443000													70	261					0	0	0.014410	0	0
CUL3	8452	broad.mit.edu	37	2	225376090	225376090	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:225376090C>T	ENST00000264414.4	-	6	1202	c.864G>A	c.(862-864)ttG>ttA	p.L288L	CUL3_ENST00000344951.4_Silent_p.L222L|CUL3_ENST00000409096.1_Silent_p.L264L|CUL3_ENST00000409777.1_Silent_p.L264L	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	288					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTCCATTTTTCAACATATGTA	0.338000													24	110					0	0	0.003330	0	0
SI	6476	broad.mit.edu	37	3	164777770	164777770	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:164777770G>T	ENST00000264382.3	-	10	1128	c.1066C>A	c.(1066-1068)Caa>Aaa	p.Q356K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	356	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)	CGACTTAGTTGGAATCCAAGA	0.363000										HNSCC(35;0.089)			44	420					1.22674e-20	1.84012e-20	0.008740	1	0
TMEM230	29058	broad.mit.edu	37	20	5086842	5086842	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr20:5086842T>G	ENST00000379286.2	-	4	634	c.214A>C	c.(214-216)Agc>Cgc	p.S72R	TMEM230_ENST00000342308.5_Missense_Mutation_p.S135R|TMEM230_ENST00000379279.2_Missense_Mutation_p.S72R|TMEM230_ENST00000492419.1_5'UTR|TMEM230_ENST00000379277.2_Missense_Mutation_p.S72R|TMEM230_ENST00000202834.7_Missense_Mutation_p.S72R|TMEM230_ENST00000379283.2_Missense_Mutation_p.S72R	NM_001009924.1	NP_001009924.1	Q96A57	CT030_HUMAN	transmembrane protein 230	72						integral to membrane											ACCCCTTTGCTGATGTAGCCT	0.473000													3	85					0	0	0.004672	0	0
OR5T1	390155	broad.mit.edu	37	11	56043788	56043788	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr11:56043788T>C	ENST00000313033.2	+	1	760	c.674T>C	c.(673-675)aTt>aCt	p.I225T		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					ACTATCCTGATTGTCCTGATC	0.428000													58	131					0	0	0.014410	0	0
TBL2	26608	broad.mit.edu	37	7	72987687	72987687	+	Silent	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr7:72987687G>A	ENST00000305632.5	-	4	802	c.561C>T	c.(559-561)caC>caT	p.H187H	TBL2_ENST00000452475.1_Silent_p.H187H|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Silent_p.H151H	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	187										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CAGGCGCCTTGTGCTTTTTAG	0.557000													28	134					0	0	0.009535	0	0
NOL4	8715	broad.mit.edu	37	18	31538215	31538215	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr18:31538215C>T	ENST00000261592.5	-	7	1521	c.1224G>A	c.(1222-1224)ctG>ctA	p.L408L	NOL4_ENST00000589544.1_Silent_p.L408L|NOL4_ENST00000535384.1_Silent_p.L123L|NOL4_ENST00000538587.1_Silent_p.L334L|NOL4_ENST00000535475.1_Silent_p.L253L|NOL4_ENST00000269185.4_Silent_p.L294L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	408						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						TAAAAGCTTTCAGCCGCTCGG	0.448000													40	85					0	0	0.007835	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898859	112898859	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr9:112898859C>T	ENST00000374530.3	+	8	1215	c.1035C>T	c.(1033-1035)caC>caT	p.H345H	AKAP2_ENST00000374525.1_Silent_p.H203H|AKAP2_ENST00000259318.7_Silent_p.H114H|AKAP2_ENST00000555236.1_Silent_p.H345H|PALM2-AKAP2_ENST00000302798.7_Silent_p.H345H|AKAP2_ENST00000510514.5_Silent_p.H345H|AKAP2_ENST00000434623.2_Silent_p.H203H	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		114							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CACCTCCTCACATCGAGCTCA	0.622000													9	62					0	0	0.004482	0	0
TRIM24	8805	broad.mit.edu	37	7	138239469	138239469	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr7:138239469A>T	ENST00000343526.4	+	9	1503	c.1288A>T	c.(1288-1290)Agc>Tgc	p.S430C	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.S430C			O15164	TIF1A_HUMAN	tripartite motif containing 24	430					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						GGATAAAGAGAGCCAGCCACA	0.373000													11	114					0	0	0.010729	0	0
GRID2	2895	broad.mit.edu	37	4	94411922	94411922	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr4:94411922C>T	ENST00000282020.4	+	12	2249	c.1991C>T	c.(1990-1992)tCc>tTc	p.S664F	GRID2_ENST00000510992.1_Missense_Mutation_p.S569F	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	664					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATTGAAAGTTCCATCCAGTAA	0.393000													13	45					0	0	0.003163	0	0
ZNF208	7757	broad.mit.edu	37	19	22157159	22157159	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr19:22157159T>C	ENST00000397126.4	-	4	825	c.677A>G	c.(676-678)gAg>gGg	p.E226G	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTAGGGTTTCTCTCCAGTATG	0.358000													15	57					0	0	0.004007	0	0
ZZZ3	26009	broad.mit.edu	37	1	78098454	78098454	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:78098454T>C	ENST00000370801.3	-	5	1061	c.586A>G	c.(586-588)Atc>Gtc	p.I196V	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TAGCCTGTGATTTCTTCAACT	0.398000													9	94					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179669322	179669322	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:179669322C>T	ENST00000589042.1	-	2	272	c.48G>A	c.(46-48)gtG>gtA	p.V16V	TTN_ENST00000591111.1_Silent_p.V16V|TTN_ENST00000460472.2_Silent_p.V16V|TTN_ENST00000359218.5_Silent_p.V16V|TTN_ENST00000342175.6_Silent_p.V16V|TTN_ENST00000342992.6_Silent_p.V16V|TTN_ENST00000360870.5_Silent_p.V16V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16	Ig-like 1.						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)			CCTCCAGTACCACAACGCTTT	0.438000													14	59					0	0	0.004990	0	0
TBX22	50945	broad.mit.edu	37	X	79286052	79286052	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chrX:79286052G>T	ENST00000442340.1	+	9	1135	c.645G>T	c.(643-645)ttG>ttT	p.L215F	TBX22_ENST00000373294.5_Missense_Mutation_p.L335F|TBX22_ENST00000373291.1_Missense_Mutation_p.L215F|TBX22_ENST00000373296.3_Missense_Mutation_p.L335F	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	335					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCTCTCCTTTGAACTCCTTAC	0.473000													34	43					1.02151e-06	1.4196e-06	0.013726	1	0
LOC645752	645752	broad.mit.edu	37	15	78212618	78212618	+	RNA	SNP	A	A	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr15:78212618A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGTAACCGCCACTGGAGGACC	0.562000													3	48					0	0	0.009096	0	0
SHANK2	22941	broad.mit.edu	37	11	70332717	70332717	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr11:70332717C>A	ENST00000338508.4	-	32	3683	c.3684G>T	c.(3682-3684)atG>atT	p.M1228I	SHANK2_ENST00000423696.2_Missense_Mutation_p.M848I|SHANK2_ENST00000409161.1_Missense_Mutation_p.M631I|SHANK2_ENST00000449833.2_Missense_Mutation_p.M632I			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	848					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)			GAGACTCCTTCATGGCTCGGT	0.627000													25	506					3.01185e-09	4.31242e-09	0.003954	1	0
OLR1	4973	broad.mit.edu	37	12	10313470	10313470	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr12:10313470G>A	ENST00000309539.3	-	4	539	c.479C>T	c.(478-480)tCg>tTg	p.S160L	OLR1_ENST00000432556.2_Intron|OLR1_ENST00000545927.1_Missense_Mutation_p.S160L|OLR1_ENST00000544577.1_Intron|OLR1_ENST00000543993.1_Intron	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	160	C-type lectin.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						AAATGAGCCCGAGGAAAATAG	0.428000													38	110					0	0	0.005524	0	0
OR52K1	390036	broad.mit.edu	37	11	4510853	4510853	+	Silent	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr11:4510853G>A	ENST00000307632.3	+	1	745	c.723G>A	c.(721-723)ggG>ggA	p.G241G		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGGCATTTGGGACATGTGTGT	0.537000													55	121					0	0	0.014410	0	0
GPR37	2861	broad.mit.edu	37	7	124404598	124404598	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr7:124404598A>T	ENST00000303921.2	-	1	1083	c.433T>A	c.(433-435)Ttc>Atc	p.F145I		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	145						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						ATCTGAAGGAAGAGCTGGAGG	0.627000													17	154					0	0	0.007413	0	0
ANGPTL6	83854	broad.mit.edu	37	19	10203335	10203335	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr19:10203335C>G	ENST00000253109.4	-	6	1581	c.1343G>C	c.(1342-1344)tGg>tCg	p.W448S	ANGPTL6_ENST00000592641.1_Missense_Mutation_p.W448S|C19orf66_ENST00000253110.11_3'UTR|C19orf66_ENST00000591813.1_3'UTR|C19orf66_ENST00000397881.3_3'UTR|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.W408S	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	448	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			AAACTCAGCCCAGTAGACACC	0.617000													28	83					0	0	0.005443	0	0
FLG	2312	broad.mit.edu	37	1	152282297	152282297	+	Missense_Mutation	SNP	C	C	G	rs139417173	by1000genomes	TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:152282297C>G	ENST00000368799.1	-	3	5100	c.5065G>C	c.(5065-5067)Gca>Cca	p.A1689P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1689	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTGTCTGCTGACTGCTGG	0.572000									Ichthyosis				156	410					0	0	0.014410	0	0
FLAD1	80308	broad.mit.edu	37	1	154961254	154961254	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:154961254G>A	ENST00000368433.1	+	2	1389	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E	FLAD1_ENST00000368432.1_Missense_Mutation_p.G252E|FLAD1_ENST00000295530.2_Missense_Mutation_p.G82E|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000368431.3_Missense_Mutation_p.G250E|FLAD1_ENST00000315144.10_Missense_Mutation_p.G252E|FLAD1_ENST00000405236.2_Missense_Mutation_p.G250E|FLAD1_ENST00000292180.3_Missense_Mutation_p.G349E			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	349					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTGCCCCAGGGATCGCTGGTC	0.562000													16	83					0	0	0.004007	0	0
ING1	3621	broad.mit.edu	37	13	111371619	111371619	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr13:111371619C>T	ENST00000375774.3	+	2	1071	c.609C>T	c.(607-609)cgC>cgT	p.R203R	ING1_ENST00000333219.7_Silent_p.R60R|ING1_ENST00000464141.1_3'UTR|ING1_ENST00000338450.7_Silent_p.R16R|ING1_ENST00000375775.3_5'UTR	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	203					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCTTCAGTCGCGAGACAGACG	0.647000													13	91					0	0	0.004007	0	0
ODAM	54959	broad.mit.edu	37	4	71063726	71063726	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr4:71063726C>A	ENST00000396094.2	+	4	275	c.227C>A	c.(226-228)tCt>tAt	p.S76Y		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	76	Gln-rich.				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCCCAGTTCTCTTTATCAGCT	0.478000													52	141					2.48909e-17	3.70423e-17	0.014410	1	0
SMUG1	23583	broad.mit.edu	37	12	54576251	54576251	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr12:54576251G>T	ENST00000508394.2	-	3	504	c.442C>A	c.(442-444)Ctc>Atc	p.L148I	SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000337581.3_Missense_Mutation_p.L148I|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000401977.2_Missense_Mutation_p.L148I|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000513838.1_Intron	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	148				Missing (in Ref. 3; BAC03670).	depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity			kidney(1)|large_intestine(4)|lung(1)	6						TGTCCACAGAGGTTCCGGAAA	0.567000								Base excision repair (BER), DNA glycosylases					17	109					1.15088e-07	1.61123e-07	0.004007	1	0
POTEA	340441	broad.mit.edu	37	8	43157231	43157231	+	RNA	SNP	G	G	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr8:43157231G>C	ENST00000522175.2	+	0	697							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGAAGATTATGCAGTTTCTAG	0.294000													14	52					0	0	0.001855	0	0
DSP	1832	broad.mit.edu	37	6	7585963	7585963	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr6:7585963C>T	ENST00000379802.3	+	24	8809	c.8468C>T	c.(8467-8469)cCg>cTg	p.P2823L	DSP_ENST00000418664.2_Missense_Mutation_p.P2224L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2823	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCTTCGGCTCCGGGGtcccgc	0.632000													5	120					0	0	0.000602	0	0
SMCHD1	23347	broad.mit.edu	37	18	2673310	2673310	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr18:2673310C>G	ENST00000320876.6	+	4	793	c.455C>G	c.(454-456)tCa>tGa	p.S152*	SMCHD1_ENST00000261598.8_Nonsense_Mutation_p.S152*	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	152					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ATTGACAATTCATTGTCTGCT	0.328000													8	22					0	0	0.004482	0	0
EEF1E1	9521	broad.mit.edu	37	6	8102742	8102742	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr6:8102742C>A	ENST00000379715.5	-	1	69	c.13G>T	c.(13-15)Gca>Tca	p.A5S	EEF1E1_ENST00000429723.2_Missense_Mutation_p.A5S|EEF1E1-MUTED_ENST00000397456.2_Missense_Mutation_p.A5S|EEF1E1_ENST00000507463.1_Missense_Mutation_p.A5S	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	5					negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					GACAACTCTGCGGCCGCCGCC	0.602000													5	47					2.0095e-06	2.75214e-06	0.001984	1	0
FNBP4	23360	broad.mit.edu	37	11	47741494	47741494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr11:47741494G>A	ENST00000263773.5	-	16	2962	c.2950C>T	c.(2950-2952)Cag>Tag	p.Q984*		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	984										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						ACCAGCTGCTGCTGTTTCCAC	0.443000													12	60					0	0	0.013537	0	0
TSPAN19	144448	broad.mit.edu	37	12	85421708	85421708	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr12:85421708A>G	ENST00000532498.2	-	4	313	c.233T>C	c.(232-234)aTt>aCt	p.I78T	TSPAN19_ENST00000547403.2_Intron	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	78						integral to membrane				ovary(1)	1						TTCGTTGTGAATTCCTATATA	0.299000													3	13					0	0	0.004672	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													3	55					0	0	0.004672	0	0
CSE1L	1434	broad.mit.edu	37	20	47704564	47704564	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr20:47704564C>A	ENST00000262982.2	+	17	1865	c.1742C>A	c.(1741-1743)tCt>tAt	p.S581Y	CSE1L_ENST00000542325.1_Missense_Mutation_p.S364Y|CSE1L_ENST00000396192.3_Missense_Mutation_p.S525Y	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	581					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AGAAGTTTTTCTCTCCTACAA	0.373000													11	27					2.80697e-09	4.04976e-09	0.010729	1	0
ZSCAN5A	79149	broad.mit.edu	37	19	56734095	56734095	+	Silent	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr19:56734095G>A	ENST00000587340.1	-	6	1299	c.604C>T	c.(604-606)Cta>Tta	p.L202L	ZSCAN5A_ENST00000391713.1_Silent_p.L202L|ZSCAN5A_ENST00000254165.3_Silent_p.L85L|ZSCAN5A_ENST00000592355.1_Silent_p.L202L|ZSCAN5A_ENST00000587492.1_Silent_p.L56L			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	202					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTCTTGTGTAGCAGAAAGTCC	0.488000													17	68					0	0	0.004990	0	0
NRP2	8828	broad.mit.edu	37	2	206562314	206562314	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:206562314C>T	ENST00000360409.3	+	2	911	c.120C>T	c.(118-120)atC>atT	p.I40I	NRP2_ENST00000417189.1_Silent_p.I40I|NRP2_ENST00000272849.3_Silent_p.I40I|NRP2_ENST00000540841.1_Silent_p.I40I|NRP2_ENST00000357785.5_Silent_p.I40I|NRP2_ENST00000355117.4_Silent_p.I40I|NRP2_ENST00000412873.2_Silent_p.I40I|NRP2_ENST00000540178.1_Silent_p.I40I|NRP2_ENST00000357118.4_Silent_p.I40I	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	40	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CTGGCTATATCACCTCTCCCG	0.498000													62	371					0	0	0.014410	0	0
FRY	10129	broad.mit.edu	37	13	32798468	32798468	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr13:32798468C>A	ENST00000380250.3	+	37	5358	c.4862C>A	c.(4861-4863)gCc>gAc	p.A1621D		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1621					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)		GGATGCTGGGCCCCCCTGGTT	0.572000													26	68					2.44723e-14	3.61349e-14	0.004656	1	0
THADA	63892	broad.mit.edu	37	2	43801884	43801884	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:43801884C>T	ENST00000403856.1	-	12	1467	c.1320G>A	c.(1318-1320)ttG>ttA	p.L440L	THADA_ENST00000404790.1_Silent_p.L440L|THADA_ENST00000402360.2_Silent_p.L440L|THADA_ENST00000330266.7_Silent_p.L150L|THADA_ENST00000405975.2_Silent_p.L440L|THADA_ENST00000405006.4_Silent_p.L440L|THADA_ENST00000415080.2_Silent_p.L150L			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	440							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GACTCTCAGTCAATTCCACAA	0.418000													34	83					0	0	0.003271	0	0
FAT1	2195	broad.mit.edu	37	4	187557927	187557927	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr4:187557927G>A	ENST00000441802.2	-	5	3993	c.3784C>T	c.(3784-3786)Cga>Tga	p.R1262*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1262	Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTTCTTTCTCGGTCTGGCTTT	0.478000										HNSCC(5;0.00058)			119	168					0	0	0.014410	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263131	140263131	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:140263131C>T	ENST00000289272.2	+	1	1278	c.1278C>T	c.(1276-1278)acC>acT	p.T426T	PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.T426T|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGTGACCGCGCGGGACG	0.657000													34	157					0	0	0.013726	0	0
ZNF639	51193	broad.mit.edu	37	3	179051488	179051488	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:179051488A>G	ENST00000326361.3	+	7	1181	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000496856.1_Missense_Mutation_p.M246V|ZNF639_ENST00000484866.1_Missense_Mutation_p.M246V	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	246					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CTCTACCAATATGCTTCTGAT	0.368000													46	124					0	0	0.014410	0	0
MFN1	55669	broad.mit.edu	37	3	179082965	179082965	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:179082965C>T	ENST00000471841.1	+	7	831	c.705C>T	c.(703-705)ctC>ctT	p.L235L	MFN1_ENST00000280653.7_Silent_p.L235L|MFN1_ENST00000263969.5_Silent_p.L235L	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	235					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTTTCATTCTCAATAATCGTT	0.338000													10	164					0	0	0.013537	0	0
SLC39A12	221074	broad.mit.edu	37	10	18289628	18289628	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr10:18289628C>T	ENST00000377369.2	+	11	1906	c.1633C>T	c.(1633-1635)Ctg>Ttg	p.L545L	SLC39A12_ENST00000377374.4_Silent_p.L508L|SLC39A12_ENST00000377371.3_Silent_p.L544L|SLC39A12_ENST00000539911.1_Silent_p.L411L	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	545					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AATCATGATTCTGGTTGGGGA	0.423000													21	58					0	0	0.010504	0	0
PIK3IP1	113791	broad.mit.edu	37	22	31679217	31679217	+	Silent	SNP	T	T	A	rs145125391		TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr22:31679217T>A	ENST00000215912.5	-	6	828	c.645A>T	c.(643-645)cgA>cgT	p.R215R	PIK3IP1_ENST00000487265.2_Silent_p.R136R|PIK3IP1_ENST00000441972.1_3'UTR	NM_052880.4	NP_443112.2	Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1	215						integral to membrane				large_intestine(2)|lung(1)|ovary(1)	4						GCAGAGTGATTCGCTGCATCT	0.507000													15	71					0	0	0.003163	0	0
CILP	8483	broad.mit.edu	37	15	65490732	65490732	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr15:65490732T>C	ENST00000261883.4	-	9	2058	c.1892A>G	c.(1891-1893)aAt>aGt	p.N631S		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	631					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGTGGAAATATTCCGGGGATC	0.517000													51	124					0	0	0.014410	0	0
CSPG4	1464	broad.mit.edu	37	15	75981392	75981392	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr15:75981392G>A	ENST00000308508.5	-	3	2106	c.2014C>T	c.(2014-2016)Cga>Tga	p.R672*		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	672	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGGGCCAGTCGCAACCCTGTG	0.672000													13	86					0	0	0.002450	0	0
C8A	731	broad.mit.edu	37	1	57340684	57340684	+	Silent	SNP	C	C	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:57340684C>A	ENST00000361249.3	+	3	330	c.234C>A	c.(232-234)atC>atA	p.I78I		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	78	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GTGGTGACATCTGGGATCAAG	0.488000													16	28					1.15088e-07	1.61123e-07	0.004007	1	0
ABCA9	10350	broad.mit.edu	37	17	66978771	66978771	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:66978771A>G	ENST00000340001.4	-	37	4863	c.4652T>C	c.(4651-4653)cTg>cCg	p.L1551P	ABCA9_ENST00000453985.2_Missense_Mutation_p.L1513P|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1551					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATAGACCATCAGGGAGGAGAA	0.463000													3	106					0	0	0.009096	0	0
ADAM19	8728	broad.mit.edu	37	5	156934146	156934146	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:156934146C>T	ENST00000257527.4	-	10	986	c.908G>A	c.(907-909)gGc>gAc	p.G303D	ADAM19_ENST00000394020.1_Missense_Mutation_p.G305D|ADAM19_ENST00000430702.2_Missense_Mutation_p.G36D|ADAM19_ENST00000517905.1_Missense_Mutation_p.G303D	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	303	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAAGGACATGCCCCTGCAGGA	0.622000													4	75					0	0	0.009096	0	0
PLXNB2	23654	broad.mit.edu	37	22	50727227	50727227	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr22:50727227C>T	ENST00000449103.1	-	5	1465	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	PLXNB2_ENST00000359337.4_Missense_Mutation_p.R442H			O15031	PLXB2_HUMAN	plexin B2	442	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TACCAGGTCGCGCTTGACTCT	0.607000													10	40					0	0	0.006214	0	0
UBTF	7343	broad.mit.edu	37	17	42288993	42288993	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:42288993T>C	ENST00000302904.4	-	10	1520	c.1028A>G	c.(1027-1029)tAt>tGt	p.Y343C	UBTF_ENST00000533177.1_Missense_Mutation_p.Y306C|UBTF_ENST00000529383.1_Missense_Mutation_p.Y343C|UBTF_ENST00000526094.1_Missense_Mutation_p.Y306C|UBTF_ENST00000436088.1_Missense_Mutation_p.Y343C|UBTF_ENST00000393606.3_Missense_Mutation_p.Y306C|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000343638.5_Missense_Mutation_p.Y306C|UBTF_ENST00000527034.1_Missense_Mutation_p.Y306C			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	343					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTTCTTGTGATAGGCGTCCTT	0.587000													31	134					0	0	0.013726	0	0
PEX11A	8800	broad.mit.edu	37	15	90226795	90226795	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr15:90226795C>T	ENST00000300056.3	-	3	706	c.557G>A	c.(556-558)cGa>cAa	p.R186Q	PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.R155Q|PEX11A_ENST00000561224.1_Intron	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	186					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CTTCAGAGATCGGAATAAAAG	0.473000													40	232					0	0	0.005524	0	0
DPY19L3	147991	broad.mit.edu	37	19	32930743	32930743	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr19:32930743A>G	ENST00000342179.5	+	8	997	c.782A>G	c.(781-783)aAt>aGt	p.N261S	DPY19L3_ENST00000392250.2_Missense_Mutation_p.N261S|DPY19L3_ENST00000586987.1_Missense_Mutation_p.N261S	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	261						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TGGCAATTTAATCAATTTATG	0.388000													28	49					0	0	0.005443	0	0
KCNV1	27012	broad.mit.edu	37	8	110980374	110980374	+	Silent	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr8:110980374C>T	ENST00000524391.1	-	4	2478	c.1446G>A	c.(1444-1446)ctG>ctA	p.L482L	KCNV1_ENST00000297404.1_Silent_p.L482L			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	482						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CTCTGCCTTTCAGTCGCAGCA	0.388000													10	35					0	0	0.008291	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28307044	28307044	+	Missense_Mutation	SNP	C	C	A	rs142161826		TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr21:28307044C>A	ENST00000284987.5	-	4	1551	c.1430G>T	c.(1429-1431)cGa>cTa	p.R477L	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	477					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GATCTGCTTTCGTGGTAGGTC	0.507000													8	43					1.12685e-05	1.52125e-05	0.004482	1	0
MED12L	116931	broad.mit.edu	37	3	151101967	151101967	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:151101967G>T	ENST00000474524.1	+	33	4820	c.4782G>T	c.(4780-4782)gaG>gaT	p.E1594D	MED12L_ENST00000273432.4_Missense_Mutation_p.E1454D|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1594					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)			GATCTGAAGAGAACAAGCGTG	0.378000													50	44					6.3237e-29	9.63854e-29	0.014410	1	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		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)		GAGGGGTGGCGTGACCTGTGG	0.597000													4	13					0	0	0.009096	0	0
RFC5	5985	broad.mit.edu	37	12	118467588	118467588	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr12:118467588C>G	ENST00000392542.2	+	11	1354	c.821C>G	c.(820-822)tCt>tGt	p.S274C	RFC5_ENST00000229043.3_Missense_Mutation_p.S210C|RFC5_ENST00000454402.2_Missense_Mutation_p.S295C|RFC5_ENST00000543153.1_3'UTR	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	295					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACTTTCCATCTTCAGTTCGA	0.373000													20	101					0	0	0.010504	0	0
TCERG1	10915	broad.mit.edu	37	5	145836812	145836812	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:145836812G>A	ENST00000296702.5	+	3	390	c.352G>A	c.(352-354)Gga>Aga	p.G118R	TCERG1_ENST00000394421.2_Missense_Mutation_p.G118R	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	118	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTTCCACCAGGAATGCCTCC	0.453000													18	81					0	0	0.004990	0	0
GAREM	64762	broad.mit.edu	37	18	29867548	29867548	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr18:29867548C>T	ENST00000399218.4	-	4	1067	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	GAREM_ENST00000269209.6_Missense_Mutation_p.E338K|RP11-344B2.2_ENST00000579580.1_RNA	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		CGTGAATACTCATCGATGTCG	0.547000													13	103					0	0	0.001855	0	0
USP31	57478	broad.mit.edu	37	16	23117561	23117561	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr16:23117561G>A	ENST00000219689.7	-	4	925	c.926C>T	c.(925-927)tCt>tTt	p.S309F		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	309					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		AATTGGCAAAGAAATGCAAAG	0.383000													6	42					0	0	0.003080	0	0
CNTN6	27255	broad.mit.edu	37	3	1367528	1367528	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:1367528A>T	ENST00000446702.2	+	9	1603	c.976A>T	c.(976-978)Aat>Tat	p.N326Y	CNTN6_ENST00000350110.2_Missense_Mutation_p.N326Y|CNTN6_ENST00000539053.1_Missense_Mutation_p.N254Y			Q9UQ52	CNTN6_HUMAN	contactin 6	326	Ig-like C2-type 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GAAAATCCAAAATACACACCT	0.403000													11	40					0	0	0.008291	0	0
MAPK9	5601	broad.mit.edu	37	5	179669687	179669687	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:179669687G>T	ENST00000452135.2	-	8	1055	c.757C>A	c.(757-759)Cag>Aag	p.Q253K	MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000455781.1_Missense_Mutation_p.Q253K|MAPK9_ENST00000347470.4_Intron|MAPK9_ENST00000343111.6_Missense_Mutation_p.Q253K|MAPK9_ENST00000393360.3_Missense_Mutation_p.Q253K			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	253	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding 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|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGTTGGCTGAAGTTTCTTC	0.388000													5	46					1.23904e-05	1.66084e-05	0.000602	1	0
IFNAR2	3455	broad.mit.edu	37	21	34624976	34624976	+	Missense_Mutation	SNP	G	G	A	rs147789575	byFrequency	TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr21:34624976G>A	ENST00000404220.3	+	7	879	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	IFNAR2_ENST00000342136.4_Missense_Mutation_p.E184K|IFNAR2_ENST00000413881.1_Missense_Mutation_p.E112K|IFNAR2_ENST00000382264.3_Missense_Mutation_p.E184K|IFNAR2_ENST00000382241.3_Missense_Mutation_p.E184K|IFNAR2_ENST00000342101.3_Missense_Mutation_p.E184K|AP000295.9_ENST00000433395.2_Silent_p.P91P			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	184					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GCATAAACCCGAAATAAAAGG	0.333000													12	25					0	0	0.013537	0	0
RPS23	6228	broad.mit.edu	37	5	81571953	81571953	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:81571953C>T	ENST00000296674.8	-	4	660	c.407G>A	c.(406-408)gGc>gAc	p.G136D	RPS23_ENST00000510210.1_Intron|RPS23_ENST00000507980.1_3'UTR|RPS23_ENST00000512493.1_Intron|ATG10_ENST00000514253.2_Intron|RPS23_ENST00000510019.1_Splice_Site_p.G78_splice	NM_001025.4	NP_001016.1	P62266	RS23_HUMAN	ribosomal protein S23	136					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome			prostate(1)	1		Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31)		TTCCTTCTTGCCTTTGTATAG	0.383000													8	68					0	0	0.004482	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841649	8841649	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr19:8841649C>T	ENST00000324060.2	+	1	334	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGACTTTCTGCGGGGAGAAGG	0.552000													19	74					0	0	0.008871	0	0
NEK2	4751	broad.mit.edu	37	1	211843718	211843718	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr1:211843718G>C	ENST00000366999.4	-	5	808	c.670C>G	c.(670-672)Ctc>Gtc	p.L224V	NEK2_ENST00000366998.3_Missense_Mutation_p.L224V|NEK2_ENST00000462283.1_5'UTR|NEK2_ENST00000540251.1_Missense_Mutation_p.L181V	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	224	Protein kinase.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TTCCCAGCGAGTTCTTTCTGG	0.343000													19	202					0	0	0.008871	0	0
ASB5	140458	broad.mit.edu	37	4	177143474	177143474	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr4:177143474G>C	ENST00000296525.3	-	3	487	c.374C>G	c.(373-375)gCa>gGa	p.A125G	ASB5_ENST00000512254.1_Missense_Mutation_p.A72G|ASB5_ENST00000511879.1_5'UTR	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	125					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ATTAGCTCCTGCTTCCAGCAG	0.418000													6	48					0	0	0.001168	0	0
STEAP4	79689	broad.mit.edu	37	7	87913481	87913481	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr7:87913481C>T	ENST00000380079.4	-	2	205	c.104G>A	c.(103-105)gGa>gAa	p.G35E	AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.G35E|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.G35E|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	35					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CATTTTCAATCCCAGTGATCT	0.413000													10	100					0	0	0.006214	0	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284000													3	78					0	0	0.004672	0	0
RPS23	6228	broad.mit.edu	37	5	81571952	81571952	+	Splice_Site	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:81571952G>A	ENST00000510019.1	-	4	306	c.232_splice	c.e4-1	p.G78_splice	RPS23_ENST00000510210.1_Intron|RPS23_ENST00000507980.1_3'UTR|RPS23_ENST00000512493.1_Intron|ATG10_ENST00000514253.2_Intron|RPS23_ENST00000296674.8_Silent_p.G136G			P62266	RS23_HUMAN	ribosomal protein S23	78					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome			prostate(1)	1		Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31)		TTTCCTTCTTGCCTTTGTATA	0.378000													8	67					0	0	0.004482	0	0
TXNRD1	7296	broad.mit.edu	37	12	104725379	104725379	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr12:104725379A>G	ENST00000526691.1	+	12	1772	c.1316A>G	c.(1315-1317)gAg>gGg	p.E439G	TXNRD1_ENST00000388854.3_Missense_Mutation_p.E439G|TXNRD1_ENST00000524698.1_Missense_Mutation_p.E387G|TXNRD1_ENST00000503506.2_Missense_Mutation_p.E387G|TXNRD1_ENST00000397736.2_Missense_Mutation_p.E431G|TXNRD1_ENST00000429002.2_Missense_Mutation_p.E537G|TXNRD1_ENST00000378070.4_Missense_Mutation_p.E486G|TXNRD1_ENST00000427956.1_Missense_Mutation_p.E502G|TXNRD1_ENST00000354940.6_Missense_Mutation_p.E387G|TXNRD1_ENST00000542918.1_Missense_Mutation_p.E437G|TXNRD1_ENST00000526950.1_Missense_Mutation_p.E456G|TXNRD1_ENST00000525566.1_Missense_Mutation_p.E537G|TXNRD1_ENST00000526390.1_Missense_Mutation_p.E431G|TXNRD1_ENST00000540716.1_Missense_Mutation_p.E349G|TXNRD1_ENST00000529546.1_Missense_Mutation_p.E349G	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	537					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						GGCCTTTCTGAGGAGAAAGCT	0.348000													4	22					0	0	0.000602	0	0
TSC22D2	9819	broad.mit.edu	37	3	150128558	150128558	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:150128558G>A	ENST00000361875.2	+	1	2437	c.1421G>A	c.(1420-1422)gGg>gAg	p.G474E	TSC22D2_ENST00000361136.2_Missense_Mutation_p.G474E	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	474							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGTCCTGCCGGGGCTGGGCAG	0.726000													6	44					0	0	0.003080	0	0
ZEB2	9839	broad.mit.edu	37	2	145147391	145147391	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:145147391G>T	ENST00000558170.2	-	10	4456	c.3272C>A	c.(3271-3273)gCg>gAg	p.A1091E	ZEB2_ENST00000303660.4_Missense_Mutation_p.A1091E|ZEB2_ENST00000539609.3_Missense_Mutation_p.A1067E|ZEB2_ENST00000409487.3_Missense_Mutation_p.A1091E	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1091	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTCGCGCTCCGCCGCTTCCCG	0.602000													17	91					5.01169e-05	6.67049e-05	0.004990	1	0
CBLN4	140689	broad.mit.edu	37	20	54578941	54578941	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr20:54578941T>G	ENST00000064571.2	-	1	1587	c.287A>C	c.(286-288)gAt>gCt	p.D96A		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	96	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			TCTGACCTGATCGAAGTAAAT	0.647000													30	192					0	0	0.004878	0	0
NOTCH1	4851	broad.mit.edu	37	9	139407980	139407980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr9:139407980G>T	ENST00000277541.6	-	14	2292	c.2217C>A	c.(2215-2217)tgC>tgA	p.C739*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	739	EGF-like 19; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGTCACAGTCGCACTTGTACC	0.612000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			16	9					3.41278e-10	4.96166e-10	0.004990	1	0
C15orf60	283677	broad.mit.edu	37	15	73766183	73766183	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr15:73766183C>G	ENST00000331090.6	+	2	198	c.170C>G	c.(169-171)tCc>tGc	p.S57C	C15orf60_ENST00000560581.1_Missense_Mutation_p.S57C	NM_001042367.1	NP_001035826.1	Q7Z4M0	CO060_HUMAN	chromosome 15 open reading frame 60	57										endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						GTTTTTGATTCCAATGAAGAA	0.323000													5	6					0	0	0.001168	0	0
RANBP2	5903	broad.mit.edu	37	2	109382140	109382140	+	Silent	SNP	C	C	T	rs139290272	byFrequency	TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:109382140C>T	ENST00000283195.6	+	20	5271	c.5145C>T	c.(5143-5145)agC>agT	p.S1715S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1715					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTCCAAAGAGCGGATTTGAGG	0.428000													25	130					0	0	0.006320	0	0
ABHD1	84696	broad.mit.edu	37	2	27352690	27352690	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr2:27352690C>T	ENST00000316470.4	+	6	800	c.686C>T	c.(685-687)tCt>tTt	p.S229F		NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	229						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGACTCTGTCTGCATGCTGG	0.567000													16	81					0	0	0.003163	0	0
ITPR2	3709	broad.mit.edu	37	12	26808652	26808652	+	Silent	SNP	G	G	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr12:26808652G>A	ENST00000381340.3	-	20	2994	c.2578C>T	c.(2578-2580)Ctg>Ttg	p.L860L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	860					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)					TCAAATGTCAGTTTATTTTTT	0.313000													20	58					0	0	0.007413	0	0
SORBS3	10174	broad.mit.edu	37	8	22429318	22429318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr8:22429318C>T	ENST00000240123.7	+	19	2214	c.1831C>T	c.(1831-1833)Cag>Tag	p.Q611*	SORBS3_ENST00000428103.1_Nonsense_Mutation_p.Q269*	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	611					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	p.Q611*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TAACACCTCTCAGATACACTG	0.607000													12	77					0	0	0.013537	0	0
USP53	54532	broad.mit.edu	37	4	120177469	120177469	+	Silent	SNP	A	A	G			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr4:120177469A>G	ENST00000450251.1	+	4	985	c.441A>G	c.(439-441)aaA>aaG	p.K147K	USP53_ENST00000274030.6_Silent_p.K147K			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	147					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GTACCTCTAAATCTTGTATCA	0.323000													5	8					0	0	0.001168	0	0
ATR	545	broad.mit.edu	37	3	142176524	142176524	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:142176524delA	ENST00000350721.4	-	45	7698	c.7577delT	c.(7576-7578)agfs	p.M2526fs	ATR_ENST00000383101.3_Frame_Shift_Del_p.M2462fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2526	PI3K/PI4K.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTCTGTTCCCATAGGACCCAT	0.388								Other conserved DNA damage response genes					10	108	---	---	---	---					
SMC4	10051	broad.mit.edu	37	3	160150162	160150162	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr3:160150162delA	ENST00000357388.3	+	22	3840	c.3389delA	c.(3388-3390)cafs	p.Q1130fs	SMC4_ENST00000469762.1_Frame_Shift_Del_p.Q1105fs|SMC4_ENST00000462787.1_Frame_Shift_Del_p.Q1072fs|SMC4_ENST00000360111.2_Frame_Shift_Del_p.Q1072fs|SMC4_ENST00000344722.5_Frame_Shift_Del_p.Q1130fs|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1130					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTTCGGAAACAAAGGCTTAAT	0.348													29	55	---	---	---	---					
SEMA5A	9037	broad.mit.edu	37	5	9054270	9054270	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr5:9054270delG	ENST00000382496.5	-	19	3283	c.2618delC	c.(2617-2619)cgfs	p.P873fs		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	873	TSP type-1 6.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCCATAGGCCGGGGCTGGATT	0.607													10	66	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100345610	100345611	+	RNA	INS	-	-	AA	rs71686325		TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr7:100345610_100345611insAA	ENST00000542585.1	+	0	1171				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_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)			gcaagactctgaaaaaaaaaaa	0.505													3	3	---	---	---	---					
CTTN	2017	broad.mit.edu	37	11	70275169	70275178	+	Frame_Shift_Del	DEL	CAAGTAACAT	CAAGTAACAT	-			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr11:70275169_70275178delCAAGTAACAT	ENST00000301843.8	+	14	1246_1255	c.1040_1049delCAAGTAACAT	c.(1039-1050)acfs	p.TSNI347fs	CTTN_ENST00000376561.3_Frame_Shift_Del_p.TSNI310fs|CTTN_ENST00000346329.3_Frame_Shift_Del_p.TSNI310fs|CTTN_ENST00000538675.1_Frame_Shift_Del_p.TSNI31fs	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	347						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		ACCAGCAAAACAAGTAACATCAGAGCTAAC	0.567													18	1368	---	---	---	---					
FSD2	123722	broad.mit.edu	37	15	83434772	83434772	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr15:83434772delC	ENST00000334574.8	-	10	1746	c.1565delG	c.(1564-1566)gcfs	p.G522fs	FSD2_ENST00000541889.1_Frame_Shift_Del_p.G477fs			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	522	Fibronectin type-III 2.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						GGTCGGGATGCCCACAACAGA	0.597													2	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577516	7577517	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:7577516_7577517insA	ENST00000420246.2	-	7	896_897	c.764_765insT	c.(763-765)aacfs	p.N255fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.N255fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.N255fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.N255fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.N255fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.N255fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	255	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (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.I255S(10)|p.0?(8)|p.I255del(7)|p.I255N(7)|p.I255T(7)|p.I255I(2)|p.I255fs*8(1)|p.?(1)|p.T256fs*8(1)|p.I254fs*7(1)|p.I255M(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*17(1)|p.T256del(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)		CTTCCAGTGTGATGATGGTGAG	0.584		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)			38	63	---	---	---	---					
MFAP4	4239	broad.mit.edu	37	17	19290122	19290123	+	In_Frame_Ins	INS	-	-	AGC			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr17:19290122_19290123insAGC	ENST00000395592.2	-	2	178_179	c.107_108insGCT	c.(106-108)cct>cGCTct	p.36_36P>RS	MFAP4_ENST00000299610.4_In_Frame_Ins_p.12_12P>RS|MFAP4_ENST00000497081.2_In_Frame_Ins_p.37_37P>RS	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	12	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GCGTGGAGAGAAGCAGCAGCAG	0.649													3	4	---	---	---	---					
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	RNA	DEL	A	A	-			TCGA-CN-6989-01A-11D-1912-08	TCGA-CN-6989-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61cd2198-d85e-4eae-b9c6-e36be372595b	ac954060-b4d9-4a3c-8922-a7dcb8d79074	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363													2	4	---	---	---	---					
