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
BBS12	166379	broad.mit.edu	37	4	123663151	123663151	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr4:123663151C>T	ENST00000542236.1	+	3	485	c.104C>T	c.(103-105)tCa>tTa	p.S35L	BBS12_ENST00000314218.3_Missense_Mutation_p.S35L	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	35					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CCACTAAAATCATCCAAATTT	0.383000									Bardet-Biedl syndrome				14	58					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138546052	138546052	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr7:138546052C>T	ENST00000440172.1	-	16	5128	c.5080G>A	c.(5080-5082)Gcc>Acc	p.A1694T	KIAA1549_ENST00000422774.1_Missense_Mutation_p.A1694T|KIAA1549_ENST00000242365.4_Missense_Mutation_p.A1644T	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1694						integral to membrane		p.A1644S(1)|p.A1694S(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGGGCAAAGGCGTCGTCCAGG	0.697000			O	BRAF	pilocytic astrocytoma								21	61					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26960084	26960084	+	Silent	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr17:26960084G>A	ENST00000528896.2	-	20	3755	c.3681C>T	c.(3679-3681)gtC>gtT	p.V1227V	KIAA0100_ENST00000389003.3_Silent_p.V1084V|KIAA0100_ENST00000544884.1_Silent_p.V1084V	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1227						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CCCGCAGAGTGACACTATGGT	0.587000													16	58					0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159922091	159922091	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:159922091C>T	ENST00000368093.3	-	3	741	c.625G>A	c.(625-627)Gtc>Atc	p.V209I	SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Intron	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	209	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAGAACTGACGTTGCTGATG	0.567000													13	99					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119112315	119112315	+	Splice_Site	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr3:119112315C>T	ENST00000264245.4	+	8	1415	c.881_splice	c.e8-1	p.R295_splice		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	295					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TTCTTTTAGGCGAAAGCTCTC	0.373000													21	115					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713090	70713090	+	RNA	SNP	G	G	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr14:70713090G>T	ENST00000530196.1	-	0	1428					NR_003951.1																						CAGGCATCTTGTTCACACTGC	0.493000													12	66					3.07112e-06	3.22804e-06	1	1	0
APOB	338	broad.mit.edu	37	2	21245909	21245909	+	Silent	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr2:21245909C>T	ENST00000233242.1	-	18	2737	c.2610G>A	c.(2608-2610)caG>caA	p.Q870Q		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	870					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCAGTTCAGCCTGCATCTATA	0.468000													16	68					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091257	74091257	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr18:74091257C>T	ENST00000443185.2	-	4	3130	c.2813G>A	c.(2812-2814)cGg>cAg	p.R938Q	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	938					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CGCGCCAGCCCGGGCGATGAC	0.701000													10	45					0	0	1	0	0
HAUS4	54930	broad.mit.edu	37	14	23417081	23417081	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr14:23417081G>C	ENST00000206474.7	-	7	956	c.704C>G	c.(703-705)tCc>tGc	p.S235C	HAUS4_ENST00000555986.1_Missense_Mutation_p.S190C|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000490506.1_Missense_Mutation_p.S111C|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000555367.1_Missense_Mutation_p.S190C|HAUS4_ENST00000541587.1_Missense_Mutation_p.S235C|RP11-298I3.5_ENST00000555074.1_Silent_p.L64L|HAUS4_ENST00000347758.2_Intron|HAUS4_ENST00000342454.8_Missense_Mutation_p.S190C|HAUS4_ENST00000554446.1_Intron			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	235					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						ATAAACCTGGGAGTAAGCAGC	0.542000													17	132					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531574	92531574	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr11:92531574C>T	ENST00000298047.6	+	9	5412	c.5395C>T	c.(5395-5397)Cga>Tga	p.R1799*	FAT3_ENST00000525166.1_Nonsense_Mutation_p.R1649*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.R1799*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1799	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTGGTGATTCGAGCCACAGA	0.483000										TCGA Ovarian(4;0.039)			6	23					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4774816	4774816	+	Silent	SNP	C	C	T	rs61757111		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr3:4774816C>T	ENST00000354582.6	+	42	5570	c.5220C>T	c.(5218-5220)aaC>aaT	p.N1740N	ITPR1_ENST00000456211.2_Silent_p.N1692N|ITPR1_ENST00000443694.2_Silent_p.N1740N|ITPR1_ENST00000423119.2_Silent_p.N1707N|ITPR1_ENST00000357086.4_Silent_p.N1707N|ITPR1_ENST00000302640.8_Silent_p.N1740N|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1755					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ACTATGGAAACGTCAGACCTT	0.527000													7	17					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10883259	10883259	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr19:10883259G>A	ENST00000314646.5	+	3	504	c.340G>A	c.(340-342)Ggc>Agc	p.G114S	DNM2_ENST00000585892.1_Missense_Mutation_p.G114S|DNM2_ENST00000408974.4_Missense_Mutation_p.G114S|DNM2_ENST00000359692.6_Missense_Mutation_p.G114S|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000355667.6_Missense_Mutation_p.G114S|DNM2_ENST00000389253.4_Missense_Mutation_p.G114S			P50570	DYN2_HUMAN	dynamin 2	114					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GACCAACAAAGGCATCTCCCC	0.547000			"""F, N, Splice, Mis, O"""		ETP ALL								14	61					0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138433537	138433537	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr3:138433537G>C	ENST00000477593.1	-	8	1148	c.1075C>G	c.(1075-1077)Cat>Gat	p.H359D	PIK3CB_ENST00000289153.2_Missense_Mutation_p.H359D			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	359	C2 PI3K-type.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TCAGTACCATGAAAAAGACCA	0.363000													14	154					0	0	1	0	0
SPPL3	121665	broad.mit.edu	37	12	121206807	121206807	+	Silent	SNP	G	G	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr12:121206807G>C	ENST00000353487.2	-	7	1061	c.558C>G	c.(556-558)ctC>ctG	p.L186L		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	187						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGAGACCTTGAGGCTCGGCA	0.557000													4	9					0	0	1	0	0
RBM8A	9939	broad.mit.edu	37	1	145508277	145508277	+	Silent	SNP	A	A	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:145508277A>T	ENST00000330165.7	+	3	267	c.198A>T	c.(196-198)ccA>ccT	p.P66P	RBM8A_ENST00000369307.3_Silent_p.P65P|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	66					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACCCGGACCACAACGCTGTG	0.488000													12	78					0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123753921	123753921	+	Missense_Mutation	SNP	C	C	T	rs114104204	by1000genomes	TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr11:123753921C>T	ENST00000375026.2	-	4	818	c.602G>A	c.(601-603)cGt>cAt	p.R201H		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	201						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GACAATGCTACGAGGCATTGC	0.418000													12	70					0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42427098	42427098	+	Nonsense_Mutation	SNP	C	C	T	rs63750411		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr17:42427098C>T	ENST00000053867.3	+	4	390	c.328C>T	c.(328-330)Cga>Tga	p.R110*	GRN_ENST00000589265.1_Nonsense_Mutation_p.R110*	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	110					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCAGACGGGCGATCCTGCTT	0.657000													6	31					0	0	1	0	0
CAPZB	832	broad.mit.edu	37	1	19712105	19712105	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:19712105C>T	ENST00000264203.3	-	4	680	c.187G>A	c.(187-189)Gag>Aag	p.E63K	CAPZB_ENST00000401084.2_Missense_Mutation_p.E37K|CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000433834.1_Missense_Mutation_p.E66K|CAPZB_ENST00000375144.1_Missense_Mutation_p.E25K|CAPZB_ENST00000264202.6_Missense_Mutation_p.E37K|CAPZB_ENST00000375142.1_Missense_Mutation_p.E37K			P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	37					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		AGGAGATCCTCACATAGACTG	0.478000													15	65					0	0	1	0	0
CALML3	810	broad.mit.edu	37	10	5567421	5567421	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr10:5567421A>G	ENST00000315238.1	+	1	498	c.373A>G	c.(373-375)Atg>Gtg	p.M125V	CALML3-AS1_ENST00000545372.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	125	EF-hand 4.						calcium ion binding			endometrium(3)|lung(2)	5						GGTGGACGAGATGATCCGGGC	0.652000													9	50					0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188584112	188584112	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr3:188584112T>G	ENST00000312675.4	+	9	1781	c.1535T>G	c.(1534-1536)aTc>aGc	p.I512S	LPP_ENST00000543006.1_Missense_Mutation_p.I512S	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	512	LIM zinc-binding 2.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CTGGATGGGATCCCATTCACT	0.567000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								6	64					0	0	1	0	0
BSCL2	26580	broad.mit.edu	37	11	62459942	62459942	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr11:62459942C>T	ENST00000433053.1	-	7	1325	c.769G>A	c.(769-771)Gtg>Atg	p.V257M	BSCL2_ENST00000278893.7_Missense_Mutation_p.V193M|BSCL2_ENST00000421906.1_Missense_Mutation_p.V193M|BSCL2_ENST00000405837.1_Missense_Mutation_p.V257M|BSCL2_ENST00000407022.3_Missense_Mutation_p.V193M|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_Missense_Mutation_p.V257M|BSCL2_ENST00000403550.1_Missense_Mutation_p.V193M			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	193					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GTGGTCGGCACGTACTGTGAG	0.617000													5	48					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179537198	179537198	+	Silent	SNP	T	T	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr2:179537198T>C	ENST00000589042.1	-	154	35090	c.34866A>G	c.(34864-34866)gtA>gtG	p.V11622V	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.V11248V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.V10321V|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11455	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTCTTTGGTACTTCAGGCA	0.373000													40	181					0	0	1	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593261	1593261	+	RNA	SNP	A	A	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr5:1593261A>T	ENST00000436493.2	-	0	364																											CTCAGGGCACATGCCTGACCA	0.542000													4	54					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103175930	103175930	+	Splice_Site	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr7:103175930C>T	ENST00000428762.1	-	46	7341	c.7180_splice	c.e46-1	p.A2394_splice	RELN_ENST00000343529.5_Splice_Site_p.A2394_splice|RELN_ENST00000424685.2_Splice_Site_p.A2394_splice	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2394					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCAATTCAATCGCTGAAACAG	0.383000													7	35					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120702618	120702618	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr11:120702618C>A	ENST00000527524.2	+	7	856	c.569C>A	c.(568-570)tCc>tAc	p.S190Y	GRIK4_ENST00000438375.2_Missense_Mutation_p.S190Y			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	190					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GACACGCTGTCCGTCCGCATG	0.602000													12	76					0.000978159	0.000991936	1	1	0
DOPEY2	9980	broad.mit.edu	37	21	37650303	37650303	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr21:37650303C>T	ENST00000399151.3	+	29	5828	c.5743C>T	c.(5743-5745)Cga>Tga	p.R1915*		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1915					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CATGGTTTATCGAAGTGATGA	0.478000													14	57					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50659212	50659212	+	Silent	SNP	A	A	C	rs141527317		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr22:50659212A>C	ENST00000439308.2	-	16	4068	c.3576T>G	c.(3574-3576)tcT>tcG	p.S1192S	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.S1192S	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617000													11	65					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52524492	52524492	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr13:52524492C>T	ENST00000242839.4	-	10	2647	c.2491G>A	c.(2491-2493)Gtc>Atc	p.V831I	ATP7B_ENST00000400366.3_Missense_Mutation_p.V720I|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.V831I|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.V753I|ATP7B_ENST00000417240.2_Missense_Mutation_p.V103I|ATP7B_ENST00000344297.5_Missense_Mutation_p.V669I	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	831					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACCACCTTGACGATATCGCCC	0.557000									Wilson disease				8	41					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413416	178413416	+	Silent	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr5:178413416C>T	ENST00000231188.5	-	8	2017	c.1839G>A	c.(1837-1839)acG>acA	p.T613T	GRM6_ENST00000517717.1_Silent_p.T613T|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	613					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGACGATGGGCGTGTTGTTGT	0.677000													5	34					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73021441	73021441	+	Silent	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr11:73021441C>T	ENST00000263674.3	+	1	2108	c.1758C>T	c.(1756-1758)atC>atT	p.I586I		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	586					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGCCCCTCATCGTCCAGGACC	0.647000													12	78					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173730662	173730662	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr4:173730662G>A	ENST00000506823.1	+	6	1361	c.704G>A	c.(703-705)tGc>tAc	p.C235Y	GALNTL6_ENST00000508122.1_Missense_Mutation_p.C218Y	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	235	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GACTCCCACTGCGAGGTCAAT	0.552000													15	43					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63086364	63086364	+	Nonsense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr2:63086364C>G	ENST00000263991.5	+	9	1282	c.800C>G	c.(799-801)tCa>tGa	p.S267*	EHBP1_ENST00000354487.3_Nonsense_Mutation_p.S232*|EHBP1_ENST00000405289.1_Nonsense_Mutation_p.S232*|EHBP1_ENST00000405015.3_Nonsense_Mutation_p.S232*|EHBP1_ENST00000431489.1_Nonsense_Mutation_p.S232*	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	267						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			ACCGTGAATTCAAATCCATTT	0.348000													17	52					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													3	62					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186329077	186329077	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:186329077C>G	ENST00000367478.3	-	12	1539	c.1243G>C	c.(1243-1245)Gag>Cag	p.E415Q	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	415					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTTTTGTTCTCTAGTTTCTCC	0.373000			T	NTRK1	papillary thyroid								6	39					0	0	1	0	0
MIR524	574478	broad.mit.edu	37	19	54214313	54214313	+	RNA	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr19:54214313C>T	ENST00000385242.1	+	0	58					NR_030200.1																						GAAAAGAAGGCGCTTCCCTTT	0.438000													12	85					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72352674	72352674	+	Nonsense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr4:72352674C>G	ENST00000340595.3	+	12	1977	c.1781C>G	c.(1780-1782)tCa>tGa	p.S594*	SLC4A4_ENST00000264485.5_Nonsense_Mutation_p.S638*|SLC4A4_ENST00000425175.1_Nonsense_Mutation_p.S638*|SLC4A4_ENST00000351898.6_Nonsense_Mutation_p.S638*	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	638						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GCTAATATCTCAATATCTAAT	0.299000													9	23					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73562474	73562474	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr15:73562474C>T	ENST00000339362.5	+	18	3065	c.2618C>T	c.(2617-2619)aCg>aTg	p.T873M	NEO1_ENST00000261908.6_Missense_Mutation_p.T873M|NEO1_ENST00000558964.1_Missense_Mutation_p.T873M|NEO1_ENST00000560262.1_Missense_Mutation_p.T873M			Q92859	NEO1_HUMAN	neogenin 1	873	Fibronectin type-III 5.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		p.T873M(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ATCAGGATTACGTGGGCAGAC	0.507000													18	152					0	0	1	0	0
THAP11	57215	broad.mit.edu	37	16	67876805	67876805	+	Silent	SNP	A	A	G	rs28434205	byFrequency	TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr16:67876805A>G	ENST00000303596.1	+	1	593	c.348A>G	c.(346-348)caA>caG	p.Q116Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	116	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	p.Q116Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		aacagcagcaacagcagcagc	0.682000													15	121					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80508245	80508245	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr5:80508245G>A	ENST00000265080.4	+	23	3284	c.3217G>A	c.(3217-3219)Gcc>Acc	p.A1073T	CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1073	Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCGTGCCAACGCCATCGAGAA	0.537000													3	27					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59271288	59271288	+	Silent	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr12:59271288G>A	ENST00000320743.3	-	15	2716	c.2430C>T	c.(2428-2430)gtC>gtT	p.V810V	LRIG3_ENST00000379141.4_Silent_p.V750V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	810						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTATGATCACGACACCCACAG	0.562000			T	ROS1	NSCLC								17	55					0	0	1	0	0
MEF2B	100271849	broad.mit.edu	37	19	19258545	19258545	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr19:19258545C>T	ENST00000602424.2	-	6	1081	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.E136K|MEF2B_ENST00000162023.5_Missense_Mutation_p.E119K|MEF2B_ENST00000409447.2_Missense_Mutation_p.E119K|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.E119K|MEF2B_ENST00000424583.2_Missense_Mutation_p.E119K|MEF2B_ENST00000409224.1_Missense_Mutation_p.E122K|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000410050.1_Missense_Mutation_p.E119K	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TCACCCCCTTCGCCTGCCAGC	0.622000													26	94					0	0	1	0	0
CCT6B	10693	broad.mit.edu	37	17	33281470	33281470	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr17:33281470G>T	ENST00000314144.5	-	4	600	c.485C>A	c.(484-486)gCt>gAt	p.A162D	CCT6B_ENST00000421975.3_Missense_Mutation_p.A162D|CCT6B_ENST00000436961.3_Missense_Mutation_p.A117D	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	162					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				AGCCAGTTCAGCATGAACTTT	0.323000													5	27					3.59834e-05	3.6749e-05	1	1	0
TAF1L	138474	broad.mit.edu	37	9	32634014	32634014	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr9:32634014C>G	ENST00000242310.4	-	1	1653	c.1564G>C	c.(1564-1566)Gat>Cat	p.D522H	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	522					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCATTGGGATCAAGTGCCAAA	0.488000													18	197					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88766758	88766758	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr4:88766758G>C	ENST00000497649.2	+	6	1044	c.666G>C	c.(664-666)gaG>gaC	p.E222D	MEPE_ENST00000395102.4_Missense_Mutation_p.E277D|MEPE_ENST00000424957.3_Missense_Mutation_p.E246D|MEPE_ENST00000540395.1_Missense_Mutation_p.E133D|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000560249.1_Missense_Mutation_p.E133D|MEPE_ENST00000361056.3_Missense_Mutation_p.E246D			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	246					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ATCTTCAAGAGAGAGGGGACA	0.433000													14	71					0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127541142	127541142	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr10:127541142G>A	ENST00000284690.3	-	5	1652	c.1162C>T	c.(1162-1164)Cgc>Tgc	p.R388C	DHX32_ENST00000368721.1_Missense_Mutation_p.R12C|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.R307C	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	388						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATCTGCTTGCGTATCTCTGCC	0.453000													7	79					0	0	1	0	0
PRKX	5613	broad.mit.edu	37	X	3573222	3573222	+	Silent	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chrX:3573222C>T	ENST00000262848.5	-	3	921	c.567G>A	c.(565-567)acG>acA	p.T189T	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	189	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				ACCCAAAGTCCGTGAGCTTAA	0.507000													21	38					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128324295	128324295	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr5:128324295C>G	ENST00000262462.4	+	3	1698	c.688C>G	c.(688-690)Cta>Gta	p.L230V	SLC27A6_ENST00000395266.1_Missense_Mutation_p.L230V|SLC27A6_ENST00000506176.1_Missense_Mutation_p.L230V			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	230					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TCTTCCAGGTCTACCAAAAGC	0.363000													13	76					0	0	1	0	0
EML4	27436	broad.mit.edu	37	2	42553383	42553383	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr2:42553383C>G	ENST00000318522.5	+	21	2594	c.2332C>G	c.(2332-2334)Caa>Gaa	p.Q778E	EML4_ENST00000402711.2_Missense_Mutation_p.Q720E|EML4_ENST00000453191.2_Missense_Mutation_p.Q42E|EML4_ENST00000401738.3_Missense_Mutation_p.Q789E	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	778					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCTAGGATTTCAAGTATTTGG	0.323000			T	ALK	NSCLC								13	88					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	52913070	52913070	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr10:52913070C>T	ENST00000373980.4	+	2	875	c.458C>T	c.(457-459)tCa>tTa	p.S153L	PRKG1_ENST00000373985.1_Missense_Mutation_p.S126L|PRKG1_ENST00000401604.2_Missense_Mutation_p.S138L	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	138					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GACGTGGGGTCACTGGTGTAT	0.448000													11	51					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102461416	102461416	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr14:102461416C>T	ENST00000360184.4	+	14	3591	c.3427C>T	c.(3427-3429)Cat>Tat	p.H1143Y		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1143	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GACGGAATTCCATTCCCAGAT	0.458000													9	100					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15281581	15281581	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr19:15281581C>G	ENST00000263388.2	-	26	4867	c.4792G>C	c.(4792-4794)Gat>Cat	p.D1598H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1598					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AAGCAGTGATCATTCTCAGGC	0.632000													6	26					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11341164	11341164	+	Silent	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr2:11341164C>T	ENST00000315872.6	-	23	3277	c.2829G>A	c.(2827-2829)aaG>aaA	p.K943K	ROCK2_ENST00000401753.1_Silent_p.K700K	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	943					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CTTTCATGATCTTCTCTTTTT	0.413000													45	95					0	0	1	0	0
HTR6	3362	broad.mit.edu	37	1	20005587	20005587	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:20005587C>T	ENST00000289753.1	+	3	1516	c.1049C>T	c.(1048-1050)tCg>tTg	p.S350L		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	350					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	AGCCTGGCCTCGCCATCACTG	0.687000													18	64					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3335245	3335245	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:3335245T>G	ENST00000378398.3	+	13	2958	c.2876T>G	c.(2875-2877)aTc>aGc	p.I959S	PRDM16_ENST00000442529.2_Missense_Mutation_p.I958S|PRDM16_ENST00000378391.2_Missense_Mutation_p.I959S|PRDM16_ENST00000441472.2_Missense_Mutation_p.I958S|PRDM16_ENST00000514189.1_Missense_Mutation_p.I959S|PRDM16_ENST00000511072.1_Missense_Mutation_p.I960S|PRDM16_ENST00000270722.5_Missense_Mutation_p.I959S|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	959	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGTGGGAAGATCTTCCCCAGA	0.607000			T	EVI1	"""MDS, AML"""								11	54					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65509365	65509365	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr8:65509365C>T	ENST00000310193.3	-	6	1528	c.1355G>A	c.(1354-1356)cGa>cAa	p.R452Q	CYP7B1_ENST00000523954.1_Intron	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	452					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGCAAAAAATCGGCCTGGACA	0.343000													6	49					0	0	1	0	0
ARSB	411	broad.mit.edu	37	5	78181427	78181427	+	Silent	SNP	G	G	A	rs149886659		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr5:78181427G>A	ENST00000264914.4	-	5	1658	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	ARSB_ENST00000521800.1_5'UTR|ARSB_ENST00000396151.3_Silent_p.F374F|ARSB_ENST00000565165.1_Silent_p.F374F	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	374					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		TCCACACGTCGAAGCCATCCA	0.542000													19	69					0	0	1	0	0
PRMT3	10196	broad.mit.edu	37	11	20486034	20486034	+	Nonsense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr11:20486034C>G	ENST00000331079.6	+	13	1506	c.1289C>G	c.(1288-1290)tCa>tGa	p.S430*	PRMT3_ENST00000437750.2_Nonsense_Mutation_p.S368*	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	430							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						ACGTCTATCTCAGATTTGGAA	0.323000													7	31					0	0	1	0	0
ANKRD19P	138649	broad.mit.edu	37	9	95599598	95599598	+	RNA	SNP	T	T	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr9:95599598T>C	ENST00000473204.1	+	0	1679																											GCCAGGCGAGTTCTTCTCCAG	0.622000													6	69					0	0	1	0	0
GPR174	84636	broad.mit.edu	37	X	78427418	78427418	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chrX:78427418G>A	ENST00000276077.1	+	1	950	c.914G>A	c.(913-915)aGa>aAa	p.R305K		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	305						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CGGCTTTCAAGACAAGATTTG	0.393000										HNSCC(63;0.18)			17	26					0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55337057	55337057	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:55337057G>A	ENST00000371269.3	-	5	940	c.842C>T	c.(841-843)aCa>aTa	p.T281I	DHCR24_ENST00000537443.1_Missense_Mutation_p.T113I|DHCR24_ENST00000535035.1_Missense_Mutation_p.T240I	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	281					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CATGACCCCTGTCATAATGAC	0.587000													11	55					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7576853	7576853	+	Splice_Site	SNP	C	C	A	rs11575996		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr17:7576853C>A	ENST00000420246.2	-	9	1125	c.993_splice	c.e9+1	p.Q331_splice	TP53_ENST00000455263.2_Splice_Site_p.Q331_splice|TP53_ENST00000445888.2_Splice_Site_p.Q331_splice|TP53_ENST00000269305.4_Splice_Site_p.Q331_splice|TP53_ENST00000359597.4_Splice_Site_p.Q331_splice|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Q331H(7)|p.Q331P(2)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(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)		GACTTAGTACCTGAAGGGTGA	0.453000		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)			21	49					1.50039e-11	1.63679e-11	1	1	0
CDCA4	55038	broad.mit.edu	37	14	105478001	105478001	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr14:105478001C>T	ENST00000336219.3	-	2	421	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	CDCA4_ENST00000392590.3_Missense_Mutation_p.R89Q	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	89						nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		GAGCGGCGCCCGCTCTGCAGC	0.672000													15	49					0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123754841	123754841	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr11:123754841T>C	ENST00000375026.2	-	3	620	c.404A>G	c.(403-405)tAt>tGt	p.Y135C		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	135						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGTGATCCTATAATTAGAGAA	0.408000													4	47					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73635971	73635971	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr15:73635971C>A	ENST00000261917.3	-	2	1957	c.964G>T	c.(964-966)Gac>Tac	p.D322Y		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	322					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TCTGTGTTGTCCTCCACCACG	0.493000													23	25					7.41877e-09	7.91336e-09	1	1	0
SNCA	6622	broad.mit.edu	37	4	90650392	90650392	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr4:90650392C>A	ENST00000394989.2	-	4	563	c.301G>T	c.(301-303)Gat>Tat	p.D101Y	SNCA_ENST00000394986.1_Missense_Mutation_p.D115Y|SNCA_ENST00000345009.4_Intron|SNCA_ENST00000394991.3_Missense_Mutation_p.D115Y|SNCA_ENST00000506244.1_Missense_Mutation_p.D115Y|SNCA_ENST00000420646.2_Intron|SNCA_ENST00000336904.3_Missense_Mutation_p.D115Y|SNCA_ENST00000508895.1_Missense_Mutation_p.D115Y|SNCA_ENST00000505199.1_Missense_Mutation_p.D101Y			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	115					activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	Melatonin(DB01065)	ACAGGCATATCTTCCAGAATT	0.373000													8	40					0.00307968	0.00310122	1	1	0
SLC19A2	10560	broad.mit.edu	37	1	169437407	169437407	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:169437407G>A	ENST00000236137.5	-	5	1543	c.1307C>T	c.(1306-1308)aCg>aTg	p.T436M	SLC19A2_ENST00000367804.3_Missense_Mutation_p.T235M|SLC19A2_ENST00000367802.3_Missense_Mutation_p.T398M	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	436					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	p.T436M(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					AGTGAGCAGCGTCTGCAGTGC	0.418000													5	65					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136573530	136573530	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr9:136573530G>A	ENST00000371872.4	-	11	1606	c.1349C>T	c.(1348-1350)aCg>aTg	p.T450M	SARDH_ENST00000422262.2_Missense_Mutation_p.T282M|SARDH_ENST00000439388.1_Missense_Mutation_p.T450M	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	450					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGGGTGGTCCGTGAGCGAGTG	0.652000													49	107					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131735480	131735480	+	Silent	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr9:131735480C>G	ENST00000372577.2	+	12	1176	c.1155C>G	c.(1153-1155)ctC>ctG	p.L385L		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	385					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ATGGACTGCTCTCTTTCGTTC	0.502000													15	30					0	0	1	0	0
TAF4B	6875	broad.mit.edu	37	18	23969873	23969873	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr18:23969873G>A	ENST00000269142.5	+	15	3484	c.2486G>A	c.(2485-2487)cGt>cAt	p.R829H	TAF4B_ENST00000578121.1_Missense_Mutation_p.R834H	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	829					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CAGTTGCATCGTCCAAGAATC	0.423000													24	90					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92844792	92844792	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr7:92844792C>T	ENST00000394468.2	-	3	714	c.637G>A	c.(637-639)Gac>Aac	p.D213N	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.D201N|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.D236N|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.D201N	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	213	Ig-like C2-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TTCCCAATGTCTTCCTTGGTT	0.403000													14	65					0	0	1	0	0
TMEM25	84866	broad.mit.edu	37	11	118403152	118403152	+	Missense_Mutation	SNP	G	G	A	rs149608668		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr11:118403152G>A	ENST00000524725.1	+	2	770	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	TMEM25_ENST00000533102.1_Missense_Mutation_p.A120T|TMEM25_ENST00000529001.1_3'UTR|TMEM25_ENST00000442938.2_Missense_Mutation_p.A120T|TMEM25_ENST00000411589.2_Missense_Mutation_p.A120T|TMEM25_ENST00000354064.7_Intron|TMEM25_ENST00000354284.4_Missense_Mutation_p.A120T|TMEM25_ENST00000544878.1_Missense_Mutation_p.A120T|TMEM25_ENST00000313236.5_Missense_Mutation_p.A120T|TMEM25_ENST00000359862.4_Missense_Mutation_p.A120T			Q86YD3	TMM25_HUMAN	transmembrane protein 25	120	Ig-like.					extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		ATCAGCCAACGCCTCTGTCAT	0.612000													11	62					0	0	1	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41448070	41448070	+	RNA	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr19:41448070G>A	ENST00000599198.1	+	0	977					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						ACCACTCTCCGCTACGGCTTC	0.557000													8	57					0	0	1	0	0
TBCB	1155	broad.mit.edu	37	19	36616423	36616423	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr19:36616423C>G	ENST00000589996.1	+	5	611	c.569C>G	c.(568-570)gCa>gGa	p.A190G	TBCB_ENST00000221855.3_Silent_p.G206G|TBCB_ENST00000585746.1_Silent_p.G155G|TBCB_ENST00000586868.1_Missense_Mutation_p.A59G			Q99426	TBCB_HUMAN	tubulin folding cofactor B	0	CAP-Gly.				'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AAAATGATGGCAGGTAACAAG	0.512000													16	132					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429650	135429650	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chrX:135429650C>T	ENST00000394143.1	+	6	4076	c.3785C>T	c.(3784-3786)aCc>aTc	p.T1262I	GPR112_ENST00000287534.4_Missense_Mutation_p.T1199I|GPR112_ENST00000412101.1_Missense_Mutation_p.T1057I|GPR112_ENST00000394141.1_Missense_Mutation_p.T1057I|GPR112_ENST00000370652.1_Missense_Mutation_p.T1262I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1262					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GACCAGATGACCATATCCCTG	0.448000													20	44					0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7509297	7509297	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr19:7509297G>A	ENST00000359920.6	+	4	1257	c.1004G>A	c.(1003-1005)cGg>cAg	p.R335Q	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.G293R|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R177Q	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	335	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GGCAGTGACCGGAATTATGTC	0.597000													13	53					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136501745	136501745	+	Silent	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr9:136501745C>T	ENST00000393056.2	+	1	264	c.252C>T	c.(250-252)ggC>ggT	p.G84G		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	84	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	p.G84G(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TCAAGGCTGGCGTCCTGTTTG	0.612000													17	41					0	0	1	0	0
GKAP1	80318	broad.mit.edu	37	9	86421373	86421373	+	Silent	SNP	T	T	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr9:86421373T>C	ENST00000376371.2	-	3	460	c.60A>G	c.(58-60)caA>caG	p.Q20Q	GKAP1_ENST00000376365.3_Silent_p.Q20Q	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	20					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						CACTATCCACTTGTAACAGGG	0.403000													5	35					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716837	13716837	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr12:13716837C>T	ENST00000279593.3	-	13	3544	c.3335G>A	c.(3334-3336)cGa>cAa	p.R1112Q		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1112					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCGGGGCGGTCGGCGACGGTA	0.602000													18	47					0	0	1	0	0
TCEB3	6924	broad.mit.edu	37	1	24078328	24078328	+	Silent	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:24078328C>G	ENST00000418390.2	+	4	1582	c.1311C>G	c.(1309-1311)ctC>ctG	p.L437L		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	437					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AATCCTACCTCAGCTATGACC	0.428000											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	238					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117376387	117376387	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr11:117376387A>T	ENST00000321322.6	-	9	2025	c.2024T>A	c.(2023-2025)aTt>aAt	p.I675N	DSCAML1_ENST00000527706.1_Missense_Mutation_p.I405N	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	615	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACACAGGGAATGTAGAGCAG	0.627000													6	51					0	0	1	0	0
SYTL1	84958	broad.mit.edu	37	1	27676954	27676954	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:27676954C>T	ENST00000543823.1	+	9	1445	c.983C>T	c.(982-984)cCg>cTg	p.P328L	SYTL1_ENST00000318074.5_Missense_Mutation_p.P316L|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	328	C2 1.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AATCTGAATCCGGTTTTCAAC	0.592000													21	97					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65386040	65386040	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr11:65386040C>T	ENST00000355703.3	+	6	1746	c.1207C>T	c.(1207-1209)Cca>Tca	p.P403S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	403						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AAGACACTCTCCACCTGGCCG	0.662000													4	42					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109810195	109810195	+	Silent	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:109810195G>A	ENST00000271332.3	+	16	6100	c.6039G>A	c.(6037-6039)gaG>gaA	p.E2013E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2013					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ACTGTGATGAGCACAGGGGGT	0.587000													12	80					0	0	1	0	0
ANKRD19P	138649	broad.mit.edu	37	9	95599557	95599557	+	RNA	SNP	T	T	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr9:95599557T>C	ENST00000473204.1	+	0	1638																											ATGGGAGACATGTGCTGGGTC	0.612000													4	101					0	0	1	0	0
BROX	148362	broad.mit.edu	37	1	222905989	222905989	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:222905989A>C	ENST00000340934.5	+	13	1575	c.1169A>C	c.(1168-1170)gAa>gCa	p.E390A	BROX_ENST00000537020.1_Missense_Mutation_p.K337Q|BROX_ENST00000539697.1_Missense_Mutation_p.E358A	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	390	BRO1.					membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						AAACCAGAAGAAGAAGTGAAA	0.363000													6	34					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56511269	56511269	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr11:56511269C>A	ENST00000302957.3	-	1	18	c.19G>T	c.(19-21)Gat>Tat	p.D7Y		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GCCTGACTATCATGAGAAGGG	0.403000													10	98					1.76689e-08	1.87083e-08	1	1	0
PTPRC	5788	broad.mit.edu	37	1	198668738	198668738	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:198668738C>G	ENST00000367376.2	+	5	509	c.338C>G	c.(337-339)tCg>tGg	p.S113W	PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.S115W|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000352140.3_Missense_Mutation_p.S113W|PTPRC_ENST00000594404.1_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	113					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CACGCAGACTCGCAGACGCCC	0.532000											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	192					0	0	1	0	0
PNPT1	87178	broad.mit.edu	37	2	55920943	55920943	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr2:55920943A>G	ENST00000447944.2	-	1	102	c.16T>C	c.(16-18)Tac>Cac	p.Y6H		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	6					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGCAGCAGTACCTGCAGGCC	0.652000													13	67					0	0	1	0	0
EXTL1	2134	broad.mit.edu	37	1	26360198	26360198	+	Silent	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:26360198C>T	ENST00000374280.3	+	9	2397	c.1530C>T	c.(1528-1530)gcC>gcT	p.A510A		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	510					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TGGACTTTGCCTTTCTGGTGT	0.597000													26	144					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420681	11420681	+	RNA	SNP	G	G	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr12:11420681G>C	ENST00000381842.3	-	0	539				PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCTCCTTGTGGGGGTGGT	0.652000													31	133					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47317713	47317713	+	Silent	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr7:47317713G>A	ENST00000398879.1	-	31	4665	c.4299C>T	c.(4297-4299)ttC>ttT	p.F1433F	TNS3_ENST00000311160.9_Silent_p.F1433F|TNS3_ENST00000355730.3_Silent_p.F1193F			Q68CZ2	TENS3_HUMAN	tensin 3	1433						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CCTTTGATACGAAGTTGACAA	0.572000													11	41					0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57093003	57093003	+	Silent	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr17:57093003C>T	ENST00000376149.3	-	21	2987	c.2178G>A	c.(2176-2178)gcG>gcA	p.A726A	TRIM37_ENST00000262294.7_Silent_p.A848A|TRIM37_ENST00000393065.2_Silent_p.A814A|TRIM37_ENST00000393066.3_Silent_p.A848A			O94972	TRI37_HUMAN	tripartite motif containing 37	848						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTTCTCAACCGCAGGCAAGC	0.398000									Mulibrey Nanism				25	138					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32038185	32038185	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr6:32038185C>T	ENST00000375244.3	-	14	5198	c.4997G>A	c.(4996-4998)cGa>cAa	p.R1666Q	TNXB_ENST00000375247.2_Missense_Mutation_p.R1666Q			P22105	TENX_HUMAN	tenascin XB	1748	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCGTCACCTCGGGCAACTGG	0.602000													9	31					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55569941	55569941	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr4:55569941G>A	ENST00000288135.5	+	5	905	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	270	Ig-like C2-type 3.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCAATTATGAACGTCAGGC	0.363000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				11	48					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99771528	99771528	+	Silent	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:99771528G>A	ENST00000370185.3	+	7	1751	c.1254G>A	c.(1252-1254)ccG>ccA	p.P418P	LPPR4_ENST00000370184.1_Silent_p.P260P|LPPR4_ENST00000457765.1_Silent_p.P360P	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		418							phosphatidate phosphatase activity	p.P418P(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ATACCTTGCCGCGAGCCAATA	0.498000													25	57					0	0	1	0	0
MMP25	64386	broad.mit.edu	37	16	3100516	3100516	+	Silent	SNP	C	C	T	rs146506930		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr16:3100516C>T	ENST00000336577.4	+	4	867	c.630C>T	c.(628-630)gaC>gaT	p.D210D	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	210					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CTCACTTTGACGATGAGGAGA	0.532000													17	83					0	0	1	0	0
ERLIN2	11160	broad.mit.edu	37	8	37610986	37610986	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr8:37610986G>A	ENST00000276461.5	+	11	825	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	ERLIN2_ENST00000519638.1_Missense_Mutation_p.R253Q	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	253	Interaction with ERLIN1.				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TTTCTGGCCCGGGAGAAGGCA	0.498000													10	36					0	0	1	0	0
RSPH10B	222967	broad.mit.edu	37	7	5967840	5967840	+	Missense_Mutation	SNP	C	C	T	rs140401316	byFrequency	TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr7:5967840C>T	ENST00000405415.1	-	19	2805	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K	RSPH10B_ENST00000337579.3_Missense_Mutation_p.E807K|RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000404406.1_Missense_Mutation_p.E807K|RSPH10B_ENST00000441023.2_Missense_Mutation_p.E807K|RSPH10B_ENST00000535104.1_5'UTR			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	807										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		GCTTCCAGTTCGTCATCTTCC	0.517000													23	219					0	0	1	0	0
ZNF345	25850	broad.mit.edu	37	19	37369178	37369178	+	Silent	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr19:37369178C>T	ENST00000529555.1	+	2	2234	c.1446C>T	c.(1444-1446)tgC>tgT	p.C482C	ZNF345_ENST00000589046.1_Silent_p.C482C|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Silent_p.C482C			Q14585	ZN345_HUMAN	zinc finger protein 345	482					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAAACTCTGCGAATTGGAAA	0.343000													36	76					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49695531	49695531	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr3:49695531C>T	ENST00000296452.4	+	5	8656	c.8542C>T	c.(8542-8544)Cgg>Tgg	p.R2848W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2848					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GACCCTGCAGCGGTCCCTGTC	0.627000													12	65					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31091514	31091514	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr16:31091514G>A	ENST00000394979.2	+	1	4292	c.3869G>A	c.(3868-3870)cGa>cAa	p.R1290Q	ZNF646_ENST00000300850.5_Missense_Mutation_p.R1290Q			O15015	ZN646_HUMAN	zinc finger protein 646	1290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R1290Q(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GGGGGCACCCGAAAGGCGACT	0.701000													12	74					0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130025070	130025070	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr7:130025070G>C	ENST00000011292.3	+	8	1021	c.871G>C	c.(871-873)Gac>Cac	p.D291H	CPA1_ENST00000484324.1_Missense_Mutation_p.D203H	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	291					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GTCCATTGTAGACTTTGTGAA	0.537000													16	52					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169842828	169842828	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr4:169842828C>G	ENST00000335742.7	+	18	3826	c.2469C>G	c.(2467-2469)atC>atG	p.I823M	PALLD_ENST00000507735.1_Missense_Mutation_p.I494M|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000261509.6_Missense_Mutation_p.I981M|PALLD_ENST00000505667.1_Missense_Mutation_p.I998M|PALLD_ENST00000512127.1_Missense_Mutation_p.I599M			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1205	Interaction with ARGBP2, SPIN90, SRC and PFN1.|Interaction with EPS8 (By similarity).|Interaction with VASP (By similarity).|Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		ATGCCGGCATCTACACATGTA	0.537000									Pancreatic Cancer, Familial Clustering of				5	40					0	0	1	0	0
LCP2	3937	broad.mit.edu	37	5	169701311	169701311	+	Silent	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr5:169701311C>T	ENST00000046794.5	-	6	933	c.318G>A	c.(316-318)tcG>tcA	p.S106S		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	106					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TCACAAAGGACGACCAGCCCC	0.537000													6	11					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20833109	20833109	+	Silent	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr12:20833109G>A	ENST00000359062.3	+	16	3370	c.3330G>A	c.(3328-3330)tcG>tcA	p.S1110S	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1110					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.S1110S(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCCCTCAGTCGCACTCTTCAG	0.483000													45	672					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101051204	101051204	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr8:101051204G>C	ENST00000360863.6	-	14	2315	c.2121C>G	c.(2119-2121)ttC>ttG	p.F707L	RGS22_ENST00000523437.1_Missense_Mutation_p.F695L|RGS22_ENST00000523287.1_Missense_Mutation_p.F526L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	707					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTTCTTGGTAGAAAAGCTGAT	0.358000													7	22					0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104463774	104463774	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chrX:104463774G>A	ENST00000413579.1	-	5	1213	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	TEX13A_ENST00000372575.1_3'UTR|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_3'UTR			Q9BXU3	TX13A_HUMAN	testis expressed 13A	368						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GGTCTTTGCTGATGAGGTTCG	0.547000													34	53					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171240310	171240310	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr2:171240310C>G	ENST00000334231.6	+	12	1303	c.1303C>G	c.(1303-1305)Ctc>Gtc	p.L435V	MYO3B_ENST00000409044.3_Missense_Mutation_p.L426V|MYO3B_ENST00000408978.4_Missense_Mutation_p.L426V|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	426	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CATGGTTACTCTCAGCAAAGA	0.478000													14	59					0	0	1	0	0
C10orf107	219621	broad.mit.edu	37	10	63519826	63519826	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr10:63519826G>C	ENST00000330194.2	+	5	603	c.298G>C	c.(298-300)Gag>Cag	p.E100Q		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	100								p.E100Q(1)		breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					GCAAGTGATAGAGGTTGTCAA	0.413000													10	40					0	0	1	0	0
LIM2	3982	broad.mit.edu	37	19	51885814	51885814	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr19:51885814C>G	ENST00000221973.3	-	3	351	c.309G>C	c.(307-309)tgG>tgC	p.W103C	LIM2_ENST00000596399.1_Missense_Mutation_p.W61C	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	61					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		GGGTGGCATTCCAGTATGCTG	0.567000													10	88					0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113352758	113352758	+	Silent	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr4:113352758C>T	ENST00000458497.1	+	11	2334	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	ALPK1_ENST00000177648.9_Silent_p.A685A|ALPK1_ENST00000504176.2_Silent_p.A607A	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	685							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTTTCTTGGCCCCTGGTGCAG	0.493000													5	56					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11346677	11346677	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr5:11346677G>C	ENST00000304623.8	-	9	1624	c.1435C>G	c.(1435-1437)Cag>Gag	p.Q479E	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.Q46E|CTNND2_ENST00000503622.1_Missense_Mutation_p.Q142E|CTNND2_ENST00000511377.1_Missense_Mutation_p.Q388E|CTNND2_ENST00000359640.2_Missense_Mutation_p.Q479E	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	479					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCGGCATTCTGTGGGCCGTGC	0.617000													16	92					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7752972	7752972	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr17:7752972G>T	ENST00000254846.5	+	11	3755	c.3366G>T	c.(3364-3366)gaG>gaT	p.E1122D	KDM6B_ENST00000448097.2_Missense_Mutation_p.E1122D	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1122					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TCGCCTCTGAGGTGGAAGAGC	0.612000													8	44					2.17888e-05	2.25725e-05	1	1	0
TRMT44	152992	broad.mit.edu	37	4	8465768	8465768	+	Silent	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr4:8465768C>T	ENST00000389737.4	+	7	1260	c.1260C>T	c.(1258-1260)atC>atT	p.I420I	TRMT44_ENST00000513449.2_Silent_p.I179I	NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)																		ATTGGTTAATCGGTAACCATT	0.413000													18	85					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22178122	22178122	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:22178122C>T	ENST00000374695.3	-	55	7154	c.7075G>A	c.(7075-7077)Gat>Aat	p.D2359N	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2359	Ig-like C2-type 9.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CAGTTCAGATCCAGGGTCTGC	0.667000													22	137					0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179198178	179198178	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr5:179198178C>T	ENST00000292599.3	+	4	2265	c.2002C>T	c.(2002-2004)Cgc>Tgc	p.R668C	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	668					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCATCTGACCCGCCCACCACC	0.517000													25	68					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40074056	40074056	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr22:40074056G>A	ENST00000336649.4	+	34	5016	c.5016G>A	c.(5014-5016)atG>atA	p.M1672I	CACNA1I_ENST00000401624.1_Missense_Mutation_p.M1666I|CACNA1I_ENST00000407673.1_Missense_Mutation_p.M1631I|CACNA1I_ENST00000404898.1_Missense_Mutation_p.M1631I|CACNA1I_ENST00000402142.3_Missense_Mutation_p.M1666I|CACNA1I_ENST00000400164.3_Missense_Mutation_p.M1631I			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1666					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACTTCGGCATGGCCTTCCTCA	0.627000													3	10					0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35900555	35900555	+	Silent	SNP	G	G	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:35900555G>C	ENST00000325722.3	-	21	3324	c.3090C>G	c.(3088-3090)ggC>ggG	p.G1030G	KIAA0319L_ENST00000373266.4_Silent_p.G467G	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	1030						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGGGTACAGAGCCATTCTGAC	0.607000													21	55					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64033670	64033670	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr11:64033670G>A	ENST00000540288.1	+	27	3365	c.3262G>A	c.(3262-3264)Gag>Aag	p.E1088K	PLCB3_ENST00000279230.6_Missense_Mutation_p.E1088K|PLCB3_ENST00000325234.5_Missense_Mutation_p.E1021K	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1088					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGAGATGAACGAGAGGTGAAA	0.562000													18	94					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104173914	104173914	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr10:104173914G>C	ENST00000020673.5	-	5	1691	c.1165C>G	c.(1165-1167)Cta>Gta	p.L389V	PSD_ENST00000406432.1_Missense_Mutation_p.L389V	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	389					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GTCCCAGGTAGAAAGGGCACA	0.602000													23	115					0	0	1	0	0
SMAD2	4087	broad.mit.edu	37	18	45422948	45422948	+	Silent	SNP	C	C	T			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr18:45422948C>T	ENST00000402690.2	-	2	574	c.180G>A	c.(178-180)gaG>gaA	p.E60E	SMAD2_ENST00000356825.4_Silent_p.E60E|SMAD2_ENST00000586040.1_Silent_p.E60E|SMAD2_ENST00000591214.1_Silent_p.E60E|SMAD2_ENST00000262160.6_Silent_p.E60E	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	60	MH1.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						CTTTCTCAAGCTCATCTAATC	0.418000													14	57					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370960	240370960	+	Missense_Mutation	SNP	G	G	A	rs6143701		TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr1:240370960G>A	ENST00000319653.9	+	5	3078	c.2848G>A	c.(2848-2850)Gga>Aga	p.G950R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	950	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCTCTACCCGGAGCGGCAAT	0.697000													8	75					0	0	1	0	0
ARSK	153642	broad.mit.edu	37	5	94922369	94922370	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr5:94922369_94922370insA	ENST00000380009.4	+	5	1008_1009	c.803_804insA	c.(802-804)aaafs	p.K268fs		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	268						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		GGAAGATTTACAAAAAAAGAAA	0.337													19	40	---	---	---	---					
ANKRD20A1	84210	broad.mit.edu	37	9	67934791	67934794	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr9:67934791_67934794delAAAG	ENST00000377477.2	+	4	673_676	c.561_564delAAAG	c.(559-564)aafs	p.KK187fs		NM_032250.3	NP_115626.2			ankyrin repeat domain 20 family, member A1											kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						TTTTATTGAAAAAGAAAGCAAGTT	0.309													3	6	---	---	---	---					
SYK	6850	broad.mit.edu	37	9	93641064	93641066	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-F7-A50G-01A-11D-A25Y-08	TCGA-F7-A50G-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2709ce0c-4a09-4691-b2c8-5d5f826126bd	334ff050-399f-4b9d-888a-90dc0f77a958	g.chr9:93641064_93641066delCAT	ENST00000375754.4	+	11	1558_1560	c.1410_1412delCAT	c.(1408-1413)aac>aa	p.NI470del	SYK_ENST00000375746.1_In_Frame_Del_p.NI470del|SYK_ENST00000375747.1_In_Frame_Del_p.NI447del|SYK_ENST00000375751.4_In_Frame_Del_p.NI447del	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	470	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AGGATAAGAACATCATAGAACTG	0.433			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								14	104	---	---	---	---