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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
P2RY2	5029	broad.mit.edu	37	11	72945337	72945337	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr11:72945337G>A	uc021qna.1	+	0	133	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	P2RY2_uc001otk.3_Missense_Mutation_p.V45M|P2RY2_uc001otj.3_Missense_Mutation_p.V45M|P2RY2_uc001otl.3_Missense_Mutation_p.V45M	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	45					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CGTGGTGTGCGTGCCTGGGCT	0.587000														146			17		0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113591147	113591147	+	Silent	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:113591147G>A	uc002tii.1	-	3	192	c.105C>T	c.(103-105)tcC>tcT	p.S35S	IL1B_uc002tih.1_Silent_p.S4S	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	35					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	GGTCCTGGAAGGAGCACTGCG	0.597000														79			24		0	0	1	0	0
LRRC37A2	474170	broad.mit.edu	37	17	45127272	45127272	+	Missense_Mutation	SNP	A	C	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr17:45127272A>C	uc010wkj.1	+	1	824	c.470A>C	c.(469-471)aAg>aCg	p.K157T	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1293						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		ACAAATATGAAGGCTTCTAAA	0.428000														125			9		0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118731539	118731539	+	Missense_Mutation	SNP	A	G	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:118731539A>G	uc002tlj.3	-	10	1001	c.833T>C	c.(832-834)aTt>aCt	p.I278T	CCDC93_uc010fld.2_Missense_Mutation_p.I334T	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	278										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						GAGTCCCACAATCTGGCCCAC	0.537000														11			15		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26752943	26752943	+	Missense_Mutation	SNP	G	C	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr12:26752943G>C	uc001rhg.3	-	28	4195	c.3778C>G	c.(3778-3780)Ctg>Gtg	p.L1260V		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1260					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AACAAATTCAGATGTTTATGA	0.328000														38			9		0	0	1	0	0
TTI2	80185	broad.mit.edu	37	8	33357852	33357852	+	Silent	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:33357852C>T	uc003xjl.4	-	5	1941	c.1416G>A	c.(1414-1416)cgG>cgA	p.R472R	TTI2_uc010lvu.1_Non-coding_Transcript|MAK16_uc003xjj.3_3'UTR|TTI2_uc003xjm.4_Silent_p.R472R	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	Homo sapiens TELO2 interacting protein 2 (TTI2), transcript variant 2, mRNA.	472							binding										TTACCTTTACCCGTCCTTGAG	0.463000														49			3		0	0	1	0	0
MS4A8B	83661	broad.mit.edu	37	11	60476228	60476228	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr11:60476228G>A	uc001npv.3	+	4	711	c.508G>A	c.(508-510)Gac>Aac	p.D170N	MS4A8B_uc009yne.1_Missense_Mutation_p.D170N	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA.	170						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGCCTACCCCGACTATTATCC	0.463000														88			17		0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94747854	94747854	+	Missense_Mutation	SNP	C	G	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747854C>G	uc022aye.1	-	0	785	c.785G>C	c.(784-786)aGa>aCa	p.R262T	RBM12B_uc003yfz.3_Missense_Mutation_p.R262T	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	262							RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCGAAAATGTCTATCATTAAT	0.398000														105			12		0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475156	50475156	+	Silent	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:50475156G>A	uc010ybk.1	+	2	187	c.81G>A	c.(79-81)ctG>ctA	p.L27L	SIGLEC16_uc002prf.3_Intron					Homo sapiens cDNA FLJ50062 complete cds, highly similar to Sialic acid-binding Ig-like lectin 11 precursor.											endometrium(2)|kidney(2)|lung(6)	10						GCCAAAGCCTGCGTCTGGTCT	0.662000														30			5		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980530	121980530	+	Silent	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:121980530C>T	uc003eew.4	+	3	1086	c.648C>T	c.(646-648)gaC>gaT	p.D216D	CASR_uc003eev.4_Silent_p.D216D	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	216					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.D216D(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAGCTGATGACGACTATGGGC	0.537000														192			16		0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62254029	62254029	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:62254029C>T	uc002agz.3	-	34	3758	c.3667G>A	c.(3667-3669)Gaa>Aaa	p.E1223K	VPS13C_uc002aha.3_Missense_Mutation_p.E1180K|VPS13C_uc002ahb.2_Missense_Mutation_p.E1223K|VPS13C_uc002ahc.2_Missense_Mutation_p.E1180K	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1223					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCAGCCCTTTCTGCAGCCTGG	0.448000														76			18		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145359169	145359169	+	Missense_Mutation	SNP	T	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:145359169T>A	uc021oul.1	+	71	9144	c.9109T>A	c.(9109-9111)Ttg>Atg	p.L3037M	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021ouq.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3037								p.L3037M(14)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCGTGTTGGCTTGGCTGTTGA	0.458000														448			7		0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140079392	140079392	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:140079392T>C	uc004clr.1	-	3	1094	c.1021A>G	c.(1021-1023)Atc>Gtc	p.I341V	ANAPC2_uc004clq.1_Missense_Mutation_p.I200V	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	341					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		AGCTCCTCGATGCGCAGGCTG	0.701000														43			6		0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96762461	96762461	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr4:96762461T>C	uc003htr.4	+	0	1223	c.1160T>C	c.(1159-1161)gTc>gCc	p.V387A		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	387					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TTTAAGTCCGTCAGTTAAAGG	0.398000														63			44		0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204587235	204587235	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:204587235G>A	uc021phy.1	-	0	1886	c.1886C>T	c.(1885-1887)cCt>cTt	p.P629L	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.P629L|LRRN2_uc001hbf.1_Missense_Mutation_p.P629L|LRRN2_uc009xbf.1_Missense_Mutation_p.P629L|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	629					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AATGAGCCCAGGACGGTCCCC	0.627000														33			6		0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129389499	129389499	+	Silent	SNP	T	C	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:129389499T>C	uc021xdy.1	-	3	1619	c.1185A>G	c.(1183-1185)gaA>gaG	p.E395E	TMCC1_uc003emy.4_Silent_p.E71E|TMCC1_uc011blc.2_Silent_p.E216E|TMCC1_uc010htg.3_Silent_p.E281E	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	395						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CCACTTGCCCTTCCTCTAAAG	0.478000														98			9		0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52611567	52611567	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr20:52611567T>C	uc002xws.2	-	5	1249	c.911A>G	c.(910-912)aAg>aGg	p.K304R	BCAS1_uc010zza.1_Missense_Mutation_p.K17R|BCAS1_uc010zzb.1_Missense_Mutation_p.K207R|BCAS1_uc010gim.2_Missense_Mutation_p.K207R|BCAS1_uc002xwt.2_Missense_Mutation_p.K304R|BCAS1_uc010gil.1_Missense_Mutation_p.K304R	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	304						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TTCTGGGTCCTTTTTTGTTTC	0.338000														250			4		0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									63			22		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35131480	35131480	+	Missense_Mutation	SNP	A	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr7:35131480A>T	uc003teq.1	-	19	2213	c.1106T>A	c.(1105-1107)cTt>cAt	p.L369H	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		ATCTTCGTAAAGTGGATGATT	0.423000														98			5		0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94747336	94747336	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747336C>T	uc022aye.1	-	0	1303	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N	RBM12B_uc003yfz.3_Missense_Mutation_p.D435N	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	435	RRM 3.						RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTTTGTCATCATAAAGCAAG	0.373000														165			32		0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105669001	105669001	+	Silent	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr7:105669001G>A	uc003vdl.4	+	16	2385	c.2277G>A	c.(2275-2277)acG>acA	p.T759T	CDHR3_uc003vdk.3_Missense_Mutation_p.E191K|CDHR3_uc003vdm.4_Silent_p.T746T|CDHR3_uc011klt.2_Silent_p.T671T|CDHR3_uc003vdn.3_Missense_Mutation_p.E260K	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	759					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CTGCAGAAACGAAGACTGCAG	0.537000														32			19		0	0	1	0	0
PFKL	5211	broad.mit.edu	37	21	45746603	45746603	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr21:45746603G>A	uc002zek.3	+	24	2743	c.2342G>A	c.(2341-2343)cGc>cAc	p.R781H	PFKL_uc002zel.3_Missense_Mutation_p.R734H|PFKL_uc002zem.3_Missense_Mutation_p.R321H|PFKL_uc002zen.3_Missense_Mutation_p.R321H			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	734					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CACAGGCACCGCATGCCACGG	0.667000														8			3		0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16694556	16694556	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr5:16694556G>A	uc003jft.4	-	26	4192	c.3724C>T	c.(3724-3726)Cgc>Tgc	p.R1242C	MYO10_uc011cnc.2_Missense_Mutation_p.R121C|MYO10_uc011cnd.2_Missense_Mutation_p.R599C|MYO10_uc011cne.2_Missense_Mutation_p.R599C|MYO10_uc010itx.3_Missense_Mutation_p.R865C	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1242	PH 1.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TTGGACTGGCGGAGGACAAAC	0.567000														221			4		0	0	1	0	0
GH1	2688	broad.mit.edu	37	17	61995729	61995729	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr17:61995729C>T	uc002jdj.3	-	1	210	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	GH1_uc002jdi.3_Missense_Mutation_p.A50T|GH1_uc002jdk.3_Missense_Mutation_p.A50T|GH1_uc002jdl.3_Missense_Mutation_p.A50T|GH1_uc002jdm.3_Intron|GH1_uc002jdn.3_Missense_Mutation_p.A50T	NM_000515	NP_000506	P01241	SOMA_HUMAN	Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA.	50					JAK-STAT cascade|glucose transport|growth hormone receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GTGTCAAAGGCCAGCTGGTGC	0.582000														255			63		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99006190	99006190	+	Silent	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:99006190C>T	uc010fij.3	+	5	672	c.531C>T	c.(529-531)acC>acT	p.T177T	CNGA3_uc002syt.3_Silent_p.T173T|CNGA3_uc002syu.3_Silent_p.T155T			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	173					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCTGGCTGACCGCCATCGCCC	0.557000														116			15		0	0	1	0	0
CCDC102A	92922	broad.mit.edu	37	16	57550306	57550306	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr16:57550306C>T	uc002elw.3	-	6	1531	c.1318G>A	c.(1318-1320)Gca>Aca	p.A440T		NM_033212	NP_149989	Q96A19	C102A_HUMAN	Homo sapiens coiled-coil domain containing 102A (CCDC102A), mRNA.	440										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TTGGCATGTGCCAGCTCTGCC	0.632000														39			3		0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30632747	30632747	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr6:30632747G>A	uc003nqz.3	-	6	1360	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L	DHX16_uc003nqy.3_5'Flank|DHX16_uc011dmo.2_Missense_Mutation_p.S323L	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	383					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						GGCCTGAGTTGAAGTGGGTGG	0.567000														55			6		0	0	1	0	0
WARS2	10352	broad.mit.edu	37	1	119683216	119683216	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:119683216C>T	uc001ehn.3	-	0	80	c.52G>A	c.(52-54)Gca>Aca	p.A18T	WARS2_uc010oxf.2_5'Flank|WARS2_uc001ehm.3_Missense_Mutation_p.A18T|WARS2_uc010oxg.2_Missense_Mutation_p.A18T|WARS2_uc010oxh.2_Missense_Mutation_p.A18T|WARS2_uc010oxi.2_5'Flank|BC043601_uc001ehp.1_Non-coding_Transcript|BC043601_uc001eho.1_Non-coding_Transcript|BC043601_uc009whk.2_Non-coding_Transcript	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	Homo sapiens tryptophanyl tRNA synthetase 2, mitochondrial (WARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	18					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TTATGAAGTGCCCGGATGAAG	0.597000														37			19		0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41865634	41865634	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:41865634C>T	uc001zof.2	+	16	2350	c.2114C>T	c.(2113-2115)gCc>gTc	p.A705V		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA.	705	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GAGAGCCTGGCCGACAACCTG	0.582000														172			4		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	G	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:9090831A>G	uc002mkp.3	-	0	1188	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522000														116			3		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1044692	1044692	+	Silent	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:1044692C>T	uc002lqw.4	+	10	1395	c.1164C>T	c.(1162-1164)gaC>gaT	p.D388D	ABCA7_uc010dsb.1_Silent_p.D250D	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	388					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGCAGGACGCACACGCTG	0.667000														46			10		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31038967	31038967	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:31038967G>A	uc002nsu.1	+	3	2579	c.2441G>A	c.(2440-2442)gGg>gAg	p.G814E	ZNF536_uc010edd.1_Missense_Mutation_p.G814E	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	814					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCGCTGTCTGGGCAACCCCCA	0.572000														139			5		0	0	1	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927163	92927163	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chrX:92927163C>T	uc004efq.3	-	0	1520	c.1141G>A	c.(1141-1143)Gca>Aca	p.A381T	FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.	381					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCTGGTTTTGCCTTTATTATA	0.403000														40			6		0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94748053	94748053	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94748053C>T	uc022aye.1	-	0	586	c.586G>A	c.(586-588)Gat>Aat	p.D196N	RBM12B_uc003yfz.3_Missense_Mutation_p.D196N	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	196	RRM 1.						RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ACTATGGCATCACCATTATTT	0.363000														136			18		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116538514	116538514	+	Missense_Mutation	SNP	A	G	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:116538514A>G	uc002tle.3	+	15	1459	c.1438A>G	c.(1438-1440)Aca>Gca	p.T480A	DPP10_uc002tla.2_Missense_Mutation_p.T476A|DPP10_uc002tlb.2_Missense_Mutation_p.T426A|DPP10_uc002tlc.2_Missense_Mutation_p.T472A|DPP10_uc002tlf.2_Missense_Mutation_p.T469A	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	476					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAACAATGTACATATTTTGA	0.284000														57			32		0	0	1	0	0
RGMA	56963	broad.mit.edu	37	15	93595609	93595609	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:93595609G>A	uc010urc.2	-	2	514	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	RGMA_uc002bsq.2_Missense_Mutation_p.R71W|RGMA_uc021svs.1_Missense_Mutation_p.R71W|RGMA_uc021svt.1_Missense_Mutation_p.R71W|RGMA_uc010boi.2_5'UTR|RGMA_uc002bsr.2_5'UTR|RGMA_uc021svu.1_Missense_Mutation_p.R71W|RGMA_uc002bss.2_Missense_Mutation_p.R87W	NM_001166283	NP_001159761	Q96B86	RGMA_HUMAN	Homo sapiens RGM domain family, member A (RGMA), transcript variant 1, mRNA.	87					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GCCGTCCGCCGCGTGCACAGG	0.677000														29			4		0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76939496	76939496	+	Nonsense_Mutation	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chrX:76939496G>A	uc004ecp.4	-	8	1484	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*	ATRX_uc004ecq.4_Nonsense_Mutation_p.R380*|ATRX_uc004eco.4_Nonsense_Mutation_p.R203*|ATRX_uc004ecr.2_Nonsense_Mutation_p.R379*|ATRX_uc010nlx.1_Nonsense_Mutation_p.R418*|ATRX_uc010nly.1_Nonsense_Mutation_p.R363*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	418					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCCATCGCTCGAAACTCGGAA	0.373000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							169			184		0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117504195	117504195	+	Missense_Mutation	SNP	G	C	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:117504195G>C	uc001egv.1	+	4	1681	c.1544G>C	c.(1543-1545)tGt>tCt	p.C515S		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	515	Ig-like C2-type 4.					Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		AATTATTACTGTGTTGTGTCT	0.453000														62			32		0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110895897	110895897	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr4:110895897G>A	uc003hzy.4	+	11	2215	c.1763G>A	c.(1762-1764)cGt>cAt	p.R588H	EGF_uc011cfu.2_Missense_Mutation_p.R546H|EGF_uc011cfv.2_Missense_Mutation_p.R588H	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	588					DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	p.R588C(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AATGGGAAACGTTCCAAAATA	0.353000														34			12		0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37627827	37627827	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr17:37627827C>T	uc010cvv.3	+	1	2328	c.1742C>T	c.(1741-1743)aCt>aTt	p.T581I	CDK12_uc010wef.1_Missense_Mutation_p.T580I|CDK12_uc002hrw.4_Missense_Mutation_p.T581I	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	581					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCTTCCAGTACTTCAACTTTG	0.507000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)				253			13		0	0	1	0	0
BTRC	8945	broad.mit.edu	37	10	103281443	103281443	+	Silent	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr10:103281443G>A	uc001kta.3	+	4	485	c.372G>A	c.(370-372)cgG>cgA	p.R124R	BTRC_uc001ktb.3_Silent_p.R88R|BTRC_uc001ktc.3_Silent_p.R98R	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	124					Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleus				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCAAGCAACGGAAACTCTCAG	0.388000														64			5		0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52447902	52447902	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:52447902G>A	uc002pxz.2	+	5	1230	c.766G>A	c.(766-768)Gga>Aga	p.G256R	ZNF613_uc002pya.2_Missense_Mutation_p.G220R	NM_001031721	NP_079116	Q6PF04	ZN613_HUMAN	Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA.	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAACCACACAGGAGAGAAACC	0.458000														103			49		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152374910	152374910	+	Missense_Mutation	SNP	C	G	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:152374910C>G	uc021vrb.1	-	126	17648	c.17619G>C	c.(17617-17619)aaG>aaC	p.K5873N	NEB_uc002txr.3_Missense_Mutation_p.K2339N|NEB_uc002txu.3_Missense_Mutation_p.K7574N|NEB_uc021vrc.1_Missense_Mutation_p.K7574N|NEB_uc010fnx.3_Missense_Mutation_p.K5861N|NEB_uc021vrd.1_Missense_Mutation_p.K5873N|NEB_uc002txt.4_Missense_Mutation_p.K378N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5873					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGCCTTTACTCTTCTCATACT	0.433000														311			9		0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835572	247835572	+	Missense_Mutation	SNP	G	T	T	rs117404602	by1000genomes	TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:247835572G>T	uc001idi.1	-	0	772	c.772C>A	c.(772-774)Cgc>Agc	p.R258S		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAAGCAGGGCGGATATAGGTG	0.463000														49			43		4.44401e-20	4.64601e-20	1	1	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	A	A	rs121913343		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)				9			35		0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	T	T	rs367060		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:16946434C>T	uc010ocf.2	-	2		c.464G>A			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		CTCAGCCTTCCGCCGGGCCAG	0.672000														21			5		0	0	1	0	0
TRIM32	22954	broad.mit.edu	37	9	119461244	119461244	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:119461244G>A	uc022bmo.1	+	0	1223	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	ASTN2_uc022bml.1_Intron|ASTN2_uc022bmm.1_Intron|ASTN2_uc004bjt.2_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.R408H|TRIM32_uc004bjx.2_Missense_Mutation_p.R408H	NM_012210	NP_036342	Q13049	TRI32_HUMAN	Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA.	408			R -> C (in dbSNP:rs3747835).		fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV|response to tumor necrosis factor	nucleus	RNA binding|Tat protein binding|myosin binding|protein self-association|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						AAGGAAATCCGCCGCAGCCCC	0.517000														101			84		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18301254	18301254	+	Silent	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr22:18301254C>T	uc002zng.4	-	25	4526	c.4173G>A	c.(4171-4173)ctG>ctA	p.L1391L	MICAL3_uc011agl.2_Silent_p.L1307L|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1391	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCGGCTTTGGCAGGCCCAGCC	0.632000														281			5		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152376199	152376199	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:152376199C>T	uc021vrb.1	-	124	17489	c.17460G>A	c.(17458-17460)atG>atA	p.M5820I	NEB_uc002txr.3_Missense_Mutation_p.M2286I|NEB_uc002txu.3_Missense_Mutation_p.M7521I|NEB_uc021vrc.1_Missense_Mutation_p.M7521I|NEB_uc010fnx.3_Missense_Mutation_p.M5808I|NEB_uc021vrd.1_Missense_Mutation_p.M5820I|NEB_uc002txt.4_Missense_Mutation_p.M325I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5820					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAGCATCTTTCATGACTTTGT	0.323000														118			10		0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46309270	46309270	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr21:46309270C>T	uc002zgd.2	-	11	1842	c.1798G>A	c.(1798-1800)Gta>Ata	p.V600I	ITGB2_uc002zgf.3_Missense_Mutation_p.V600I|ITGB2_uc011afl.1_Missense_Mutation_p.V522I|ITGB2_uc010gpw.2_Missense_Mutation_p.V543I|ITGB2_uc002zgg.2_Missense_Mutation_p.V600I	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	600	Cysteine-rich tandem repeats.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CACTCGCATACGTTGCAGCGG	0.657000														37			3		0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94747027	94747027	+	Missense_Mutation	SNP	C	G	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747027C>G	uc022aye.1	-	0	1612	c.1612G>C	c.(1612-1614)Gat>Cat	p.D538H	RBM12B_uc003yfz.3_Missense_Mutation_p.D538H	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	538							RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTGAAGTTATCCAGTTGCCTC	0.493000														122			19		0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17250117	17250117	+	Silent	SNP	A	G	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr21:17250117A>G	uc011aby.1	+	24	3229	c.3012A>G	c.(3010-3012)aaA>aaG	p.K1004K	USP25_uc002yjz.1_Silent_p.K966K|USP25_uc010gla.1_Silent_p.K329K|USP25_uc002yjy.1_Silent_p.K934K	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	934					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.K934K(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GCATTAAGAAATTAAATGAGC	0.313000														9			5		0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94747940	94747940	+	Missense_Mutation	SNP	C	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747940C>A	uc022aye.1	-	0	699	c.699G>T	c.(697-699)tgG>tgT	p.W233C	RBM12B_uc003yfz.3_Missense_Mutation_p.W233C	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	233							RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CAAACTCAATCCACTGTTGTT	0.373000														133			21		6.44725e-10	6.67959e-10	1	1	0
GDPD2	54857	broad.mit.edu	37	X	69652495	69652495	+	Missense_Mutation	SNP	A	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chrX:69652495A>T	uc011mpk.2	+	14	2036	c.1675A>T	c.(1675-1677)Acc>Tcc	p.T559S	GDPD2_uc010nky.2_3'UTR|GDPD2_uc004dyh.3_Missense_Mutation_p.T508S|GDPD2_uc011mpl.2_Missense_Mutation_p.T429S|GDPD2_uc011mpm.2_Missense_Mutation_p.T429S	NM_001171192	NP_001164663	Q9HCC8	GDPD2_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 2 (GDPD2), transcript variant 1, mRNA.	508					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GCTTTTGTGGACCTTCCTCCT	0.488000														147			28		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18393458	18393458	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:18393458T>C	uc003wza.3	-	15	3042	c.2939A>G	c.(2938-2940)tAt>tGt	p.Y980C	PSD3_uc003wyx.4_Missense_Mutation_p.Y309C|PSD3_uc003wyy.3_Missense_Mutation_p.Y446C|PSD3_uc003wyz.3_Missense_Mutation_p.Y281C	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	981					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ATACATTTCATAGCGGGTTTT	0.483000														86			13		0	0	1	0	0
AK308867	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	C	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr16:70268158A>C	uc010cfp.1	-	2		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333000														19			5		0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94747956	94747956	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747956C>T	uc022aye.1	-	0	683	c.683G>A	c.(682-684)gGa>gAa	p.G228E	RBM12B_uc003yfz.3_Missense_Mutation_p.G228E	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	228	RRM 1.						RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTGTTCTGATCCTTGCATTAC	0.383000														147			20		0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117266823	117266823	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr11:117266823T>C	uc001prc.3	+	24	3290	c.3143T>C	c.(3142-3144)gTt>gCt	p.V1048A	CEP164_uc001prb.3_Missense_Mutation_p.V1051A|CEP164_uc010rxk.1_Missense_Mutation_p.V1022A|CEP164_uc001prf.3_Intron|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Missense_Mutation_p.V481A	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	1048					DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GAAGTGACAGTTGAGGAAAAT	0.552000														180			47		0	0	1	0	0
TEF	7008	broad.mit.edu	37	22	41783620	41783620	+	Silent	SNP	A	G	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr22:41783620A>G	uc011apa.2	+	1	524	c.438A>G	c.(436-438)ccA>ccG	p.P146P	TEF_uc003azx.3_Silent_p.P111P|TEF_uc021wqe.1_Intron|TEF_uc003azy.3_Silent_p.P141P	NM_001145398	NP_001138870	Q10587	TEF_HUMAN	Homo sapiens thyrotrophic embryonic factor (TEF), transcript variant 2, mRNA.	141					rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						CAGCATCCCCACCATCCTCCT	0.612000														44			25		0	0	1	0	0
SETMAR	6419	broad.mit.edu	37	3	4354791	4354791	+	Silent	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:4354791C>T	uc011asp.2	+	1	433	c.366C>T	c.(364-366)tgC>tgT	p.C122C	SUMF1_uc003bps.2_Intron|SETMAR_uc003bpw.4_Silent_p.C109C|SETMAR_uc011asq.2_Silent_p.C122C|SETMAR_uc003bpy.4_Intron|SETMAR_uc011asr.2_Missense_Mutation_p.A12V|SETMAR_uc010hbx.3_5'UTR	NM_006515	NP_006506	Q53H47	SETMR_HUMAN	Homo sapiens SET domain and mariner transposase fusion gene (SETMAR), transcript variant 1, mRNA.	109	Histone-lysine N-methyltransferase.|Pre-SET.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		ATGTCCTGTGCCGATGCAGTG	0.468000								Chromatin Structure						42			3		0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002530	98002530	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:98002530C>T	uc003dsj.1	+	0	799	c.799C>T	c.(799-801)Cct>Tct	p.P267S		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GTATTTGCGCCCTGCATCTCC	0.398000														80			11		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140769361	140769361	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr5:140769361G>A	uc003lkc.2	+	0	1910	c.1910G>A	c.(1909-1911)cGc>cAc	p.R637H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	641	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCCGTCCGCCAGCGCCTT	0.692000														46			19		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12946019	12946019	+	Silent	SNP	A	C	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:12946019A>C	uc003wwm.2	-	15	4713	c.4269T>G	c.(4267-4269)ccT>ccG	p.P1423P	DLC1_uc003wwk.1_Silent_p.P986P|DLC1_uc003wwl.1_Silent_p.P1020P|DLC1_uc011kxx.1_Silent_p.P912P	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1423	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGTCTCGAGCAGGATGAGGTG	0.423000														93			18		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128488741	128488741	+	Silent	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr7:128488741G>A	uc003vnz.4	+	26	4916	c.4707G>A	c.(4705-4707)gcG>gcA	p.A1569A	FLNC_uc003voa.4_Silent_p.A1569A	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1569					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACGGGACGCGGGCGAGGGGT	0.657000														184			4		0	0	1	0	0
GALR1	2587	broad.mit.edu	37	18	74980584	74980584	+	Missense_Mutation	SNP	C	G	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr18:74980584C>G	uc002lms.4	+	2	1273	c.776C>G	c.(775-777)tCc>tGc	p.S259C		NM_001480	NP_001471	P47211	GALR1_HUMAN	Homo sapiens galanin receptor 1 (GALR1), mRNA.	259					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TTTGGAATCTCCTGGCTGCCG	0.567000														172			40		0	0	1	0	0
TCF12	6938	broad.mit.edu	37	15	57543547	57543547	+	Splice_Site	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:57543547G>A	uc002aec.3	+	14	1399	c.1115_splice	c.e14-1	p.G372_splice	TCF12_uc010ugm.1_Splice_Site_p.G424_splice|TCF12_uc010ugn.1_Splice_Site_p.G368_splice|TCF12_uc002aea.3_Splice_Site_p.G372_splice|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Splice_Site_p.G372_splice|TCF12_uc002aed.3_Splice_Site_p.G372_splice|TCF12_uc010ugo.2_Splice_Site_p.G136_splice|TCF12_uc002aee.3_Splice_Site_p.G202_splice|TCF12_uc010bft.3_Splice_Site_p.G202_splice|TCF12_uc010ugp.2_Splice_Site_p.S6_splice|TCF12_uc010ugq.2_Splice_Site_p.S6_splice|TCF12_uc010ugr.1_5'Flank	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	372					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GGTTTTAACAGGTACCAGTCA	0.423000			T	TEC	extraskeletal myxoid chondrosarcoma									28			21		0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116358026	116358026	+	Missense_Mutation	SNP	C	T	T	rs144334750		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:116358026C>T	uc004bhq.3	+	24	3601	c.3392C>T	c.(3391-3393)gCg>gTg	p.A1131V	RGS3_uc004bhs.3_Missense_Mutation_p.A1021V|RGS3_uc004bht.3_Missense_Mutation_p.A850V|RGS3_uc010muy.3_Missense_Mutation_p.A524V|RGS3_uc004bhv.3_Missense_Mutation_p.A452V|RGS3_uc004bhw.3_Missense_Mutation_p.A101V|RGS3_uc011lxh.2_Missense_Mutation_p.A452V|RGS3_uc004bhx.3_Missense_Mutation_p.A452V|RGS3_uc004bhz.3_Missense_Mutation_p.A473V|RGS3_uc004bia.3_Missense_Mutation_p.A244V	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	1131	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAATACATCGCGATCCAGGCA	0.567000														51			27		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32038129	32038129	+	Missense_Mutation	SNP	G	C	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr6:32038129G>C	uc003nzl.2	-	13	5255	c.5053C>G	c.(5053-5055)Ccc>Gcc	p.P1685A		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1767	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						TCTGGGGTGGGGTCTGTCACC	0.602000														36			5		0	0	1	0	0
IL6ST	3572	broad.mit.edu	37	5	55250757	55250757	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr5:55250757G>A	uc003jqq.3	-	10	1644	c.1331C>T	c.(1330-1332)aCt>aTt	p.T444I	IL6ST_uc003jqp.3_Intron|IL6ST_uc010iwd.3_Intron|IL6ST_uc011cqk.2_Missense_Mutation_p.T155I|IL6ST_uc003jqr.3_3'UTR|IL6ST_uc010iwb.3_Intron	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	444	Fibronectin type-III 4.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CCTTGGAGTAGTCCATTCCAC	0.368000			O		hepatocellular ca									216			9		0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48964537	48964537	+	Missense_Mutation	SNP	A	G	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr7:48964537A>G	uc010kyv.1	+	0	381	c.269A>G	c.(268-270)cAt>cGt	p.H90R						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		AAAATTGTTCATTTTACTGGC	0.373000														100			4		0	0	1	0	0
NPIP	9284	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr16:15457701G>A	uc010bvf.1	-	8	812	c.812C>T	c.(811-813)gCt>gTt	p.A271V				Q9UND3	NPIP_HUMAN	RecName: Full=NPIP-like protein 1;	273	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore		p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562000														207			5		0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94747712	94747712	+	Silent	SNP	C	G	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747712C>G	uc022aye.1	-	0	927	c.927G>C	c.(925-927)ctG>ctC	p.L309L	RBM12B_uc003yfz.3_Silent_p.L309L	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	309	RRM 2.						RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GTTCATCAGTCAGATCAGTAC	0.343000														67			12		0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358728	72358728	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr10:72358728G>A	uc009xqg.3	-	2	910	c.749C>T	c.(748-750)aCg>aTg	p.T250M	PRF1_uc001jrf.4_Missense_Mutation_p.T250M	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	250	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CTCGTTGTCCGTGAGCCCTTC	0.637000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					36			31		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12378242	12378242	+	Missense_Mutation	SNP	A	G	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:12378242A>G	uc001atv.3	+	30	7403	c.7262A>G	c.(7261-7263)aAg>aGg	p.K2421R	VPS13D_uc001atw.3_Missense_Mutation_p.K2421R|VPS13D_uc001atx.3_Missense_Mutation_p.K1609R|VPS13D_uc001aty.1_Missense_Mutation_p.K159R	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2421					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGTGATATTAAGAAACAAAAT	0.428000														173			4		0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94747221	94747221	+	Missense_Mutation	SNP	C	G	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747221C>G	uc022aye.1	-	0	1418	c.1418G>C	c.(1417-1419)aGa>aCa	p.R473T	RBM12B_uc003yfz.3_Missense_Mutation_p.R473T	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	473	RRM 3.						RNA binding|nucleotide binding	p.R473*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGATATAAGTCTTAATAACAC	0.423000														211			35		0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26672578	26672578	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:26672578G>A	uc001bmd.4	-	1	721	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 4.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CTGCTCATCCGCCGGTCCACA	0.657000														18			5		0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59186365	59186365	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:59186365T>C	uc002afp.3	-	10	1493	c.1405A>G	c.(1405-1407)Atg>Gtg	p.M469V	SLTM_uc002afn.3_Missense_Mutation_p.M38V|SLTM_uc002afo.3_Missense_Mutation_p.M451V|SLTM_uc002afq.3_Missense_Mutation_p.M38V|SLTM_uc010bgd.3_Missense_Mutation_p.M38V	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	469					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTTTCTTCATTTCTTTCTTA	0.294000														39			4		0	0	1	0	0
PM20D1	148811	broad.mit.edu	37	1	205819185	205819185	+	Missense_Mutation	SNP	C	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:205819185C>A	uc001hdj.3	-	0	92	c.16G>T	c.(16-18)Gtt>Ttt	p.V6F	PM20D1_uc009xbr.3_Non-coding_Transcript	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	6						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGCACGCAAACGCACCGCTGA	0.602000														41			11		0.00136819	0.0013802	1	1	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83290	83290	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chrGL000219.1:83290C>T	uc022brb.1	-	3	377	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		ATAAAGCAGCCATTTGAGGCC	0.363000														51			3		0	0	1	0	0
OR7A17	26333	broad.mit.edu	37	19	14992008	14992008	+	Missense_Mutation	SNP	G	C	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:14992008G>C	uc010xob.2	-	0	160	c.160C>G	c.(160-162)Cac>Gac	p.H54D		NM_030901	NP_112163	O14581	OR7AH_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					GTGTGGAGGTGGGAGTCTGAG	0.502000														111			6		0	0	1	0	0
KTN1	3895	broad.mit.edu	37	14	56117347	56117347	+	Missense_Mutation	SNP	G	A	A	rs148189219		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr14:56117347G>A	uc001xcb.3	+	24	2859	c.2557G>A	c.(2557-2559)Gct>Act	p.A853T	KTN1_uc001xcc.3_Missense_Mutation_p.A853T|KTN1_uc001xcd.3_Intron|KTN1_uc001xce.3_Missense_Mutation_p.A853T|KTN1_uc010trb.2_Missense_Mutation_p.A853T|KTN1_uc001xcf.1_Intron|KTN1_uc010aoq.3_Missense_Mutation_p.A148T	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.	853					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GCTTGAAAAGGCTCAACAGGT	0.328000			T	RET	papillary thryoid									80			5		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35406823	35406823	+	Silent	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:35406823C>T	uc003xjr.2	+	1	445	c.117C>T	c.(115-117)ggC>ggT	p.G39G	UNC5D_uc003xjs.2_Silent_p.G34G	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	39					apoptosis|axon guidance	integral to membrane	receptor activity	p.G34G(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTGACAATGGCGAAGCCCTTC	0.468000														47			24		0	0	1	0	0
TUBB6	84617	broad.mit.edu	37	18	12325927	12325927	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr18:12325927G>A	uc002kqw.3	+	3	1174	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	TUBB6_uc002kqv.3_Missense_Mutation_p.R308H|TUBB6_uc002kqy.3_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	Homo sapiens tubulin, beta 6 class V (TUBB6), mRNA.	380					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CTGTTCAAGCGCATCTCCGAG	0.617000														272			5		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46803179	46803179	+	Silent	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr6:46803179C>T	uc011dwh.1	+	11	2069	c.2061C>T	c.(2059-2061)ggC>ggT	p.G687G	MEP1A_uc010jzh.1_Silent_p.G659G|MEP1A_uc011dwg.1_Silent_p.G381G|MEP1A_uc011dwi.1_Silent_p.G559G	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	659	EGF-like.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGAACACAGGCCCCCTGGAGG	0.587000														21			3		0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98388789	98388789	+	Silent	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:98388789C>T	uc002syh.4	-	32	4648	c.4419G>A	c.(4417-4419)aaG>aaA	p.K1473K		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1473	Lys-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GGATTTCTTTCTTAATATTTA	0.363000														146			5		0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17581236	17581236	+	Silent	SNP	T	G	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:17581236T>G	uc003wxv.3	-	3	2868	c.2394A>C	c.(2392-2394)ggA>ggC	p.G798G	MTUS1_uc003wxt.3_5'Flank|MTUS1_uc011kyg.2_5'Flank|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Intron|MTUS1_uc010lsz.3_Silent_p.G798G	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	798						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AGGGGGTGCTTCCTGTCCTCC	0.483000														112			14		0	0	1	0	0
ZC3HAV1L	92092	broad.mit.edu	37	7	138711561	138711561	+	Missense_Mutation	SNP	G	C	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr7:138711561G>C	uc003vum.1	-	3	791	c.779C>G	c.(778-780)aCt>aGt	p.T260S		NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1-like (ZC3HAV1L), mRNA.	260										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TGAATGCTCAGTCGAAGGTGA	0.517000														49			9		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123785888	123785888	+	Silent	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chrX:123785888G>A	uc010nqy.3	-	7	1519	c.1455C>T	c.(1453-1455)aaC>aaT	p.N485N	ODZ1_uc011muj.2_Silent_p.N484N|ODZ1_uc004euj.3_Silent_p.N485N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	485					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TTAAGATCAGGTTCCGAGGGG	0.433000														55			8		0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113637236	113637236	+	Missense_Mutation	SNP	A	G	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:113637236A>G	uc001edf.1	+	5	860	c.662A>G	c.(661-663)gAa>gGa	p.E221G	LRIG2_uc009wgn.1_Missense_Mutation_p.E118G	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	221						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGTTAAAGGGAACTTAAAAGA	0.303000														71			21		0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94495542	94495542	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:94495542C>T	uc004arj.2	-	5	998	c.799G>A	c.(799-801)Gag>Aag	p.E267K	ROR2_uc004ari.1_Missense_Mutation_p.E127K|ROR2_uc004ark.3_Missense_Mutation_p.E267K	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	267	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGGTGTACTCCTGGCGGCAC	0.672000														27			7		0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35366984	35366984	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:35366984C>T	uc003zwr.3	+	10	1500	c.1208C>T	c.(1207-1209)cCg>cTg	p.P403L	UNC13B_uc010mkl.1_Missense_Mutation_p.R411W|UNC13B_uc003zwq.3_Missense_Mutation_p.P403L|UNC13B_uc010mkm.1_Non-coding_Transcript	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	403					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CAGTGGCTCCCGGAAGGGTAA	0.448000														48			39		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600162	29600162	+	Missense_Mutation	SNP	A	G	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr13:29600162A>G	uc001usl.4	+	0	1415	c.1357A>G	c.(1357-1359)Aat>Gat	p.N453D		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	443						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TATTCCTAATAATCTGACTGA	0.473000														48			17		0	0	1	0	0
PRR19	284338	broad.mit.edu	37	19	42813898	42813898	+	Silent	SNP	G	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:42813898G>T	uc002oti.3	+	1	540	c.162G>T	c.(160-162)gtG>gtT	p.V54V	PRR19_uc002oth.1_Silent_p.V54V|PRR19_uc002otj.3_Silent_p.V54V	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	Homo sapiens proline rich 19 (PRR19), mRNA.	54										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				ATCCACCTGTGGTCCCTACTG	0.622000														128			9		5.4927e-09	5.63983e-09	1	1	0
IDE	3416	broad.mit.edu	37	10	94266256	94266256	+	Silent	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr10:94266256C>T	uc001kia.3	-	9	1345	c.1269G>A	c.(1267-1269)agG>agA	p.R423R		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	423					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTCTTTAAACCTAAAAGCAA	0.343000														115			5		0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94748131	94748131	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94748131C>T	uc022aye.1	-	0	508	c.508G>A	c.(508-510)Gat>Aat	p.D170N	RBM12B_uc003yfz.3_Missense_Mutation_p.D170N	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	170	RRM 1.						RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ACACGTACATCATCTTCATTT	0.393000														74			11		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109689383	109689383	+	Nonsense_Mutation	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:109689383C>T	uc004bcz.3	+	2	3479	c.3190C>T	c.(3190-3192)Cag>Tag	p.Q1064*	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Nonsense_Mutation_p.Q912*|ZNF462_uc004bda.3_Nonsense_Mutation_p.Q912*	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1064					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTTTAGGATCCAGAAAACTAT	0.453000														124			12		0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94747893	94747893	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747893C>T	uc022aye.1	-	0	746	c.746G>A	c.(745-747)aGa>aAa	p.R249K	RBM12B_uc003yfz.3_Missense_Mutation_p.R249K	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	249							RNA binding|nucleotide binding	p.R248K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTCTTCAGATCTCCTAAGAAC	0.398000														134			11		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4026875	4026875	+	Silent	SNP	C	T	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr7:4026875C>T	uc003smx.3	+	13	2191	c.2052C>T	c.(2050-2052)caC>caT	p.H684H		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	684	Fibronectin type-III 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCACAGCCACGCCGTGGTGC	0.458000														157			19		0	0	1	0	0
RNF168	165918	broad.mit.edu	37	3	196229803	196229803	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:196229803T>C	uc003fwq.3	-	0	837	c.242A>G	c.(241-243)cAa>cGa	p.Q81R	RNF168_uc010iah.3_5'UTR	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.	81					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		ATAGTGTTTTTGAATTATCGT	0.512000														57			32		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	20992723	20992723	+	Silent	SNP	G	A	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:20992723G>A	uc001bdr.4	-	13	3013	c.2895C>T	c.(2893-2895)gaC>gaT	p.D965D	KIF17_uc001bdp.4_Silent_p.D242D|KIF17_uc009vpx.3_Silent_p.D335D|KIF17_uc001bds.4_Silent_p.D964D	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	965					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCTTCCTGGCGTCTGTGCTGA	0.577000														104			4		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	-	-			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:120612003_120612004delGG	uc001eik.3	-	0	314_315	c.17_18delCC	c.(16-18)cccfs	p.P6fs	NOTCH2_uc001eil.3_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.4_5'UTR	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	6					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(4)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				---	29	---	---	7	---					
PBRM1	55193	broad.mit.edu	37	3	52595944	52595944	+	Frame_Shift_Del	DEL	C	-	-			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:52595944delC	uc003des.2	-	24	4139	c.4127delG	c.(4126-4128)ggcfs	p.G1376fs	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Del_p.G1376fs|PBRM1_uc003der.2_Frame_Shift_Del_p.G1344fs|PBRM1_uc003det.2_Frame_Shift_Del_p.G1391fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.G1391fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Del_p.G1376fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.G1351fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.G1324fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.G1375fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1376					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.E1375*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCGTTTGGAGCCTTCCTTCTT	0.463			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								---	100	---	---	82	---					
RASA1	5921	broad.mit.edu	37	5	86627234	86627238	+	Frame_Shift_Del	DEL	TTATC	-	-			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr5:86627234_86627238delTTATC	uc003kiw.3	+	1	808_812	c.609_613delTTATC	c.(607-615)agttatcttfs	p.S203fs	RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_Frame_Shift_Del_p.S26fs|RASA1_uc011ctv.2_Frame_Shift_Del_p.S36fs|RASA1_uc011ctw.2_Frame_Shift_Del_p.S37fs|RASA1_uc010jaw.3_Frame_Shift_Del_p.S26fs	NM_002890	NP_002881	P20936	RASA1_HUMAN	Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA.	203	SH2 1.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of Ras protein signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|regulation of RNA metabolic process|regulation of actin filament polymerization|regulation of cell shape|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	GTPase binding|Ras GTPase activator activity|glycoprotein binding|potassium channel inhibitor activity|receptor binding	p.L205L(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AGTCTGGCAGTTATCTTATAAGAGA	0.415													---	69	---	---	14	---					
WRNIP1	56897	broad.mit.edu	37	6	2770460	2770463	+	Frame_Shift_Del	DEL	TGAT	-	-	rs144020288		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr6:2770460_2770463delTGAT	uc003mtz.3	+	2	1312_1315	c.1121_1124delTGAT	c.(1120-1125)gtgattfs	p.V374fs	WRNIP1_uc003mua.3_Frame_Shift_Del_p.V349fs	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Homo sapiens Werner helicase interacting protein 1 (WRNIP1), transcript variant 1, mRNA.	374					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CGCTGTCGAGTGATTGTTCTTGAG	0.520													---	173	---	---	7	---					
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	-	-			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr6:42196333delT	uc003ose.2	-	17	3976	c.3413delA	c.(3412-3414)aagfs	p.K1138fs	TRERF1_uc011duq.1_Frame_Shift_Del_p.K1035fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.K886fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.K874fs|TRERF1_uc003osd.2_Frame_Shift_Del_p.K1118fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	1118	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.P1138P(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542													---	801	---	---	7	---					
DENND4C	55667	broad.mit.edu	37	9	19360274	19360274	+	Frame_Shift_Del	DEL	T	-	-			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:19360274delT	uc003znq.3	+	23	4418	c.4338delT	c.(4336-4338)cctfs	p.P1446fs	DENND4C_uc011lnc.2_Frame_Shift_Del_p.P776fs|DENND4C_uc011lnd.2_Frame_Shift_Del_p.P734fs|DENND4C_uc003znr.3_Frame_Shift_Del_p.P734fs|DENND4C_uc003zns.3_Frame_Shift_Del_p.P628fs	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	1446						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATCCTCCCCCTGTTTCTGTGC	0.353													---	115	---	---	28	---					
