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
TEP1	7011	broad.mit.edu	37	14	20845481	20845481	+	Silent	SNP	G	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr14:20845481G>A	uc001vxe.3	-	40	6086	c.6046C>T	c.(6046-6048)Cta>Tta	p.L2016L	TEP1_uc010ahk.3_Silent_p.L1359L|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.L1908L|TEP1_uc010tlh.1_Silent_p.L354L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	2016					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCCAGTCCTAGCACAGGCTTC	0.507000														22			17		0	0	0.006122	0	0
ABCA11P	79963	broad.mit.edu	37	4	436019	436019	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr4:436019A>C	uc003gaf.4	-	2	2559	c.2333T>G	c.(2332-2334)aTt>aGt	p.I778S	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.I746S|ABCA11P_uc010ibe.3_Missense_Mutation_p.I734S	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		TCCAGTATGAATTTTCTTATA	0.378000														19			12		0	0	0.010729	0	0
HEPH	9843	broad.mit.edu	37	X	65390505	65390505	+	Silent	SNP	C	T	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chrX:65390505C>T	uc011moz.2	+	1	392	c.255C>T	c.(253-255)ggC>ggT	p.G85G	HEPH_uc004dwn.3_Silent_p.G34G|HEPH_uc004dwo.3_Intron|HEPH_uc010nkr.3_Silent_p.G34G|HEPH_uc011mpa.2_Silent_p.G34G	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	31	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ACTACCTGGGCATCCGGGATG	0.527000														2			18		0	0	0.006122	0	0
CTNNA1	1495	broad.mit.edu	37	5	138268291	138268291	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr5:138268291G>A	uc003ldh.3	+	16	2418	c.2323G>A	c.(2323-2325)Gac>Aac	p.D775N	CTNNA1_uc011cyx.2_Missense_Mutation_p.D672N|CTNNA1_uc011cyy.2_Missense_Mutation_p.D652N|CTNNA1_uc003ldi.3_Missense_Mutation_p.D473N|CTNNA1_uc003ldj.3_Missense_Mutation_p.D775N|CTNNA1_uc003ldl.3_Missense_Mutation_p.D405N	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	775					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTGCAAGCAGGACCTGCTGGC	0.607000														13			15		0	0	0.004990	0	0
WNK2	65268	broad.mit.edu	37	9	96031191	96031191	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr9:96031191C>T	uc004ati.1	+	18	4103	c.4103C>T	c.(4102-4104)tCc>tTc	p.S1368F	WNK2_uc011lud.1_Intron|WNK2_uc004atj.3_Intron|WNK2_uc004atk.3_Intron	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1368					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GTGTTCCTATCCTTGTTTTCT	0.592000														0			2		0	0	0.004672	0	0
SYNJ2	8871	broad.mit.edu	37	6	158450005	158450005	+	Silent	SNP	C	T	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr6:158450005C>T	uc003qqx.2	+	2	538	c.432C>T	c.(430-432)gtC>gtT	p.V144V	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Silent_p.V144V|SYNJ2_uc003qqy.2_5'UTR|SYNJ2_uc011efn.1_Silent_p.V93V|SYNJ2_uc010kjo.1_Silent_p.V93V|SYNJ2_uc021zhl.1_Non-coding_Transcript	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	144	SAC.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ACCTGACTGTCCGCACGCAGA	0.582000														46			32		0	0	0.010818	0	0
ARMC10	83787	broad.mit.edu	37	7	102724230	102724230	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr7:102724230A>G	uc003vaw.2	+	2	738	c.346A>G	c.(346-348)Aga>Gga	p.R116G	ARMC10_uc003vay.2_Missense_Mutation_p.R116G|ARMC10_uc003vax.2_Missense_Mutation_p.R81G|ARMC10_uc003vbb.2_Missense_Mutation_p.R81G|ARMC10_uc011kli.2_Missense_Mutation_p.R81G|ARMC10_uc010lis.2_Missense_Mutation_p.R81G	NM_031905	NP_114111	Q8N2F6	ARM10_HUMAN	Homo sapiens armadillo repeat containing 10 (ARMC10), transcript variant A, mRNA.	116					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						AATTATTGAAAGAGCTTTGAT	0.398000														56			27		0	0	0.006320	0	0
GUCA1B	2979	broad.mit.edu	37	6	42152609	42152609	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr6:42152609C>A	uc003orz.3	-	3	683	c.547G>T	c.(547-549)Gac>Tac	p.D183Y		NM_002098	NP_002089	Q9UMX6	GUC1B_HUMAN	Homo sapiens guanylate cyclase activator 1B (retina) (GUCA1B), mRNA.	183					body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			GGATTCATGTCCATCTGCAGC	0.587000														35			39		1.96642e-18	9.69037e-18	0.006999	1	0
TRIM29	23650	broad.mit.edu	37	11	119988941	119988941	+	Silent	SNP	G	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr11:119988941G>A	uc001pwz.3	-	6	1741	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F	TRIM29_uc001pwx.3_Non-coding_Transcript|TRIM29_uc010rzi.2_Silent_p.F278F|TRIM29_uc010rzj.2_Silent_p.F272F|TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	539					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CTTTCAGGGAGAAGGAGGAGC	0.592000														16			9		0	0	0.010729	0	0
ZNF326	284695	broad.mit.edu	37	1	90475714	90475714	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr1:90475714A>G	uc001dnq.2	+	5	822	c.683A>G	c.(682-684)aAt>aGt	p.N228S	ZNF326_uc009wda.1_Missense_Mutation_p.N139S|ZNF326_uc001dnr.2_Missense_Mutation_p.N22S	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	Homo sapiens zinc finger protein 326 (ZNF326), transcript variant 1, mRNA.	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		AAATCCACCAATGTGACAGTT	0.363000														110			6		0	0	0.001984	0	0
RPRM	56475	broad.mit.edu	37	2	154334999	154334999	+	Silent	SNP	C	T	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr2:154334999C>T	uc002tyq.1	-	0	324	c.81G>A	c.(79-81)gtG>gtA	p.V27V		NM_019845	NP_062819	Q9NS64	RPRM_HUMAN	Homo sapiens reprimo, TP53 dependent G2 arrest mediator candidate (RPRM), mRNA.	27					cell cycle arrest	cytoplasm|integral to membrane	protein binding			large_intestine(2)|lung(1)|prostate(1)	4						TGCAGCAGCGCACGGCTCGCT	0.701000														6			8		0	0	0.004482	0	0
PPM1M	132160	broad.mit.edu	37	3	52282683	52282683	+	Silent	SNP	C	T	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr3:52282683C>T	uc011bed.2	+	6	977	c.945C>T	c.(943-945)ctC>ctT	p.L315L	PPM1M_uc003ddf.4_Silent_p.L154L|PPM1M_uc003ddg.4_Silent_p.L103L|PPM1M_uc003ddh.4_Silent_p.L25L	NM_144641	NP_653242	Q96MI6	PPM1M_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1M (PPM1M), transcript variant 1, mRNA.	154					protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		AATCGGATCTCAAGTACCCAC	0.572000														59			53		0	0	0.014410	0	0
SLC45A4	57210	broad.mit.edu	37	8	142238284	142238284	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr8:142238284G>A	uc003ywd.1	-	0	390	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	SLC45A4_uc003ywc.1_Nonsense_Mutation_p.Q28*|SLC45A4_uc010meq.1_Intron	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	79					transport	integral to membrane		p.L27F(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TAACCTTTCTGAAGACTCCAT	0.537000														85			69		0	0	0.014410	0	0
DYNLL2	140735	broad.mit.edu	37	17	56164457	56164457	+	Silent	SNP	T	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr17:56164457T>A	uc010wnn.1	+	1	280	c.6T>A	c.(4-6)tcT>tcA	p.S2S		NM_080677	NP_542408	Q96FJ2	DYL2_HUMAN	Homo sapiens dynein, light chain, LC8-type 2 (DYNLL2), mRNA.	2					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|microtubule-based process|transport	centrosome|cytosol|dynein complex|microtubule|myosin complex|plasma membrane	motor activity			lung(3)	3						ACACCATGTCTGACCGGAAGG	0.532000														22			48		0	0	0.014410	0	0
MACF1	23499	broad.mit.edu	37	1	39798145	39798145	+	Missense_Mutation	SNP	A	G	G	rs143407017		TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr1:39798145A>G	uc021olw.1	+	0	1205	c.1205A>G	c.(1204-1206)aAt>aGt	p.N402S	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1967					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGAGTGAGAATCTGTTGTTC	0.458000														29			26		0	0	0.004656	0	0
CEP350	9857	broad.mit.edu	37	1	180000535	180000535	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr1:180000535A>C	uc001gnt.3	+	14	4014	c.3631A>C	c.(3631-3633)Aaa>Caa	p.K1211Q	CEP350_uc009wxl.2_Missense_Mutation_p.K1210Q|CEP350_uc001gnu.3_Missense_Mutation_p.K1044Q	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1211	Ser-rich.					centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCAAGGAAAGAAATCTGGGAC	0.398000														20			14		0	0	0.003163	0	0
PHF1	5252	broad.mit.edu	37	6	33380325	33380325	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr6:33380325A>T	uc003oeh.3	+	2	436	c.200A>T	c.(199-201)gAt>gTt	p.D67V	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Missense_Mutation_p.D67V|PHF1_uc010jux.3_5'UTR	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	67					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CAGTTTGAGGATGATTCGCAG	0.478000														54			37		0	0	0.006230	0	0
MAST4	375449	broad.mit.edu	37	5	66448594	66448594	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr5:66448594T>C	uc021xzk.1	+	24	3733	c.3425T>C	c.(3424-3426)aTt>aCt	p.I1142T	MAST4_uc003jut.2_Missense_Mutation_p.I953T|MAST4_uc003juw.3_Missense_Mutation_p.I881T	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1145						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CATCAGCCGATTGTGATCCAC	0.542000														61			66		0	0	0.014410	0	0
NSUN7	79730	broad.mit.edu	37	4	40778094	40778094	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr4:40778094C>A	uc003gvj.4	+	6	1349	c.854C>A	c.(853-855)tCt>tAt	p.S285Y	NSUN7_uc003gvi.4_Missense_Mutation_p.S285Y	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						GCTGTCCATTCTGTAAAGGCT	0.333000														20			19		3.32936e-07	1.56997e-06	0.006122	1	0
USHBP1	83878	broad.mit.edu	37	19	17362478	17362478	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr19:17362478C>G	uc002nfs.1	-	11	1948	c.1835G>C	c.(1834-1836)cGc>cCc	p.R612P	USHBP1_uc002nfr.1_Missense_Mutation_p.R238P|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.R548P	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	612							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CAGCTCCCTGCGCAGAGACTG	0.602000														49			39		0	0	0.008740	0	0
KRT80	144501	broad.mit.edu	37	12	52579248	52579248	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr12:52579248C>G	uc001rzw.3	-	0	286	c.235G>C	c.(235-237)Gaa>Caa	p.E79Q	KRT80_uc001rzy.3_Missense_Mutation_p.E142Q|KRT80_uc001rzx.3_Missense_Mutation_p.E142Q	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	230	Head.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TTGCGCAGTTCCTCCTGCAGC	0.612000														44			34		0	0	0.003271	0	0
CRTC1	23373	broad.mit.edu	37	19	18876245	18876245	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr19:18876245C>G	uc010ebv.3	+	9	1054	c.966C>G	c.(964-966)caC>caG	p.H322Q	CRTC1_uc002nkb.4_Missense_Mutation_p.H306Q|CRTC1_uc010ebw.3_Missense_Mutation_p.H171Q	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	306	Ser-rich.				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CTCCACAGCACCGCCCAGCTG	0.622000														100			58		0	0	0.014410	0	0
PTPRT	11122	broad.mit.edu	37	20	41100970	41100970	+	Silent	SNP	G	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr20:41100970G>A	uc002xkg.3	-	7	1570	c.1386C>T	c.(1384-1386)ctC>ctT	p.L462L	PTPRT_uc010ggj.3_Silent_p.L462L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	462	Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.L462I(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TAGACAGCAAGAGTCGCAGCC	0.612000														85			42		0	0	0.013114	0	0
POLR2B	5431	broad.mit.edu	37	4	57861558	57861558	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr4:57861558C>A	uc003hcl.1	+	5	761	c.718C>A	c.(718-720)Ctg>Atg	p.L240M	POLR2B_uc011cae.1_Missense_Mutation_p.L233M|POLR2B_uc011caf.1_Missense_Mutation_p.L165M	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	240					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GGTTAGCATGCTGGCAAGAGG	0.408000														57			45		1.22102e-19	6.12749e-19	0.014410	1	0
ARHGAP36	158763	broad.mit.edu	37	X	130215818	130215818	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chrX:130215818G>A	uc004evz.3	+	1	524	c.179G>A	c.(178-180)cGt>cAt	p.R60H	ARHGAP36_uc004ewa.3_Missense_Mutation_p.R48H|ARHGAP36_uc004ewb.3_Missense_Mutation_p.R29H|ARHGAP36_uc004ewc.3_5'Flank	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	60					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R60H(2)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GAGCTGGAGCGTCTGAAGCTG	0.532000														8			77		0	0	0.014410	0	0
DOCK6	57572	broad.mit.edu	37	19	11312640	11312640	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr19:11312640C>A	uc002mqs.4	-	43	5654	c.5613G>T	c.(5611-5613)aaG>aaT	p.K1871N	DOCK6_uc002mqr.4_Missense_Mutation_p.K271N|DOCK6_uc010xlq.2_Missense_Mutation_p.K1210N	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	1871	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCGTCTTACGCTTGTGTTGCT	0.637000														8			8		7.48243e-07	3.4982e-06	0.006214	1	0
C15orf42	90381	broad.mit.edu	37	15	90138745	90138745	+	Silent	SNP	T	C	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr15:90138745T>C	uc002boe.3	+	6	1803	c.1803T>C	c.(1801-1803)gaT>gaC	p.D601D	C15orf42_uc021sug.1_Silent_p.D600D	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	601					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GCAGTCCGGATGTGGCTGGGG	0.443000														40			33		0	0	0.004289	0	0
KIAA1524	57650	broad.mit.edu	37	3	108282018	108282018	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr3:108282018C>A	uc003dxb.4	-	12	1858	c.1589G>T	c.(1588-1590)aGa>aTa	p.R530I	KIAA1524_uc010hpv.1_Missense_Mutation_p.R97I	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	530						cytoplasm|integral to membrane	protein binding	p.R530T(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAATAATATTCTCAGTCCAGA	0.393000														105			64		9.39563e-20	4.75872e-19	0.014410	1	0
NCR2	9436	broad.mit.edu	37	6	41303624	41303624	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr6:41303624C>T	uc003oqh.2	+	0	97	c.10C>T	c.(10-12)Cga>Tga	p.R4*	NCR2_uc003oqj.2_Nonsense_Mutation_p.R4*|NCR2_uc003oqi.2_Nonsense_Mutation_p.R4*	NM_004828	NP_004819	O95944	NCTR2_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 2 (NCR2), transcript variant 1, mRNA.	4					cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.R4Q(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					CATGGCCTGGCGAGCCCTACA	0.627000														1			3		0	0	0.004672	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139864824	139864824	+	Silent	SNP	T	C	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr5:139864824T>C	uc003lfs.2	+	11	2143	c.1989T>C	c.(1987-1989)caT>caC	p.H663H	ANKHD1-EIF4EBP3_uc003lfq.2_Silent_p.H682H|ANKHD1-EIF4EBP3_uc003lfr.3_Silent_p.H663H|ANKHD1-EIF4EBP3_uc003lft.1_Silent_p.H143H|ANKHD1-EIF4EBP3_uc003lfu.1_Silent_p.H143H|ANKHD1-EIF4EBP3_uc003lfv.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	663						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCTACTCATCGACTCAAGG	0.498000														28			18		0	0	0.004990	0	0
DRD4	1815	broad.mit.edu	37	11	639919	639919	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr11:639919G>A	uc001lqp.2	+	2	670	c.670G>A	c.(670-672)Gtg>Atg	p.V224M		NM_000797	NP_000788	P21917	DRD4_HUMAN	Homo sapiens dopamine receptor D4 (DRD4), mRNA.	224					activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of cAMP biosynthetic process|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	SH3 domain binding|dopamine D4 receptor activity|drug binding|potassium channel regulator activity			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)	GCGCTGGGAGGTGGCACGTCG	0.741000														16			13		0	0	0.001855	0	0
SIN3A	25942	broad.mit.edu	37	15	75664533	75664533	+	Silent	SNP	G	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr15:75664533G>A	uc002bai.3	-	20	3868	c.3609C>T	c.(3607-3609)agC>agT	p.S1203S	SIN3A_uc002baj.3_Silent_p.S1203S|SIN3A_uc010uml.2_Silent_p.S1203S	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	1203					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GTAGACGCTTGCTTACACGCT	0.433000														78			43		0	0	0.009718	0	0
F2R	2149	broad.mit.edu	37	5	76028542	76028542	+	Silent	SNP	C	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr5:76028542C>A	uc003ken.4	+	1	757	c.492C>A	c.(490-492)tcC>tcA	p.S164S		NM_001992	NP_001983	P25116	PAR1_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor (F2R), mRNA.	164					STAT protein import into nucleus|activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|tyrosine phosphorylation of STAT protein	Golgi apparatus|caveola|extracellular region|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	ATTACTTTTCCGGCAGTGATT	0.493000														252			6		0.00198382	0.0091189	0.001984	1	0
OR7A17	26333	broad.mit.edu	37	19	14991895	14991895	+	Silent	SNP	G	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr19:14991895G>A	uc010xob.2	-	0	273	c.273C>T	c.(271-273)gtC>gtT	p.V91V		NM_030901	NP_112163	O14581	OR7AH_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA.	91					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)					CATAGGTGATGACTCTGCTCT	0.468000														56			49		0	0	0.014410	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098803	178098803	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr2:178098803C>A	uc002ulh.4	-	1	797	c.242G>T	c.(241-243)gGt>gTt	p.G81V	NFE2L2_uc002ulg.4_Missense_Mutation_p.G65V|NFE2L2_uc010zfa.2_Missense_Mutation_p.G65V|NFE2L2_uc002uli.4_Missense_Mutation_p.G65V|NFE2L2_uc010fra.3_Missense_Mutation_p.G65V|NFE2L2_uc010frb.3_Missense_Mutation_p.G65V	NM_006164	NP_001138884	Q16236	NF2L2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 2 (NFE2L2), transcript variant 1, mRNA.	81					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G81D(10)|p.G81V(8)|p.T80P(5)|p.T80K(3)|p.G81S(2)|p.T80R(2)|p.G81_F83delGEF(2)|p.E79_T80insE(1)|p.G81C(1)|p.T80I(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			GAGAAATTCACCTGTCTCTTC	0.433000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)				39			43		4.14194e-30	2.11742e-29	0.011902	1	0
POP1	10940	broad.mit.edu	37	8	99152324	99152324	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr8:99152324G>T	uc003yij.4	+	9	1481	c.1381G>T	c.(1381-1383)Gag>Tag	p.E461*	POP1_uc011lgv.2_Nonsense_Mutation_p.E461*|POP1_uc003yik.3_Nonsense_Mutation_p.E461*|TRNA_Und_uc022aza.1_5'Flank	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	461					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GGACACAGAGGAGACACCTCA	0.448000														28			21		1.10923e-09	5.32236e-09	0.002780	1	0
HCP5	10866	broad.mit.edu	37	6	31431377	31431377	+	RNA	SNP	G	T	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr6:31431377G>T	uc003ntl.3	+	1		c.330G>T			HCP5_uc021yup.1_5'Flank			Q6MZN7	HCP5_HUMAN	Homo sapiens HLA complex P5 (non-protein coding) (HCP5), non-coding RNA.						defense response					urinary_tract(1)	1						gaatggtcctgctttggtgtc	0.547000														9			11		1.08611e-07	5.1661e-07	0.010729	1	0
CNTN1	1272	broad.mit.edu	37	12	41323760	41323760	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr12:41323760A>G	uc001rmm.1	+	6	772	c.659A>G	c.(658-660)aAg>aGg	p.K220R	CNTN1_uc009zjy.2_Missense_Mutation_p.K220R|CNTN1_uc001rmn.1_Missense_Mutation_p.K209R|CNTN1_uc001rmo.3_Missense_Mutation_p.K220R	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	220	Ig-like C2-type 2.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TCTATTACAAAGAGCGTGTTC	0.383000														99			66		0	0	0.014410	0	0
COL1A1	1277	broad.mit.edu	37	17	48275830	48275830	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr17:48275830C>G	uc002iqm.3	-	5	633	c.507G>C	c.(505-507)gaG>gaC	p.E169D		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	169	Nonhelical region (N-terminal).				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CGGTTGATTTCTCATCATAGC	0.512000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta				OREG0024560	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			15		0	0	0.007413	0	0
POLN	353497	broad.mit.edu	37	4	2160925	2160925	+	Missense_Mutation	SNP	C	T	T	rs142911650	byFrequency	TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr4:2160925C>T	uc003ger.2	-	11	1580	c.1568G>A	c.(1567-1569)cGa>cAa	p.R523Q	POLN_uc010icg.1_5'UTR|POLN_uc010ich.1_Intron|POLN_uc011bvi.1_Missense_Mutation_p.R523Q	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	Homo sapiens polymerase (DNA directed) nu (POLN), mRNA.	523					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			ATGAAGGTCTCGCAGAGCATT	0.343000								DNA polymerases (catalytic subunits)						36			23		0	0	0.003954	0	0
FREM2	341640	broad.mit.edu	37	13	39450406	39450406	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr13:39450406T>G	uc001uwv.3	+	19	8740	c.8431T>G	c.(8431-8433)Tat>Gat	p.Y2811D		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2811					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTCAGGGACCTATACTGTGAA	0.448000														35			39		0	0	0.005524	0	0
RP1	6101	broad.mit.edu	37	8	55534829	55534829	+	Silent	SNP	A	G	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr8:55534829A>G	uc003xsd.1	+	2	916	c.768A>G	c.(766-768)gcA>gcG	p.A256A	RP1_uc011ldy.1_Silent_p.A256A	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	256					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGGGAAATGCAAAGTCAGAAA	0.403000														24			14		0	0	0.004007	0	0
ZNF514	84874	broad.mit.edu	37	2	95815880	95815880	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr2:95815880C>T	uc002sud.1	-	4	940	c.569G>A	c.(568-570)tGc>tAc	p.C190Y	ZNF514_uc002sue.1_Missense_Mutation_p.C117Y	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	Homo sapiens zinc finger protein 514 (ZNF514), mRNA.	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G190V(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11						ATCACAACCGCAGGCTGCTTT	0.438000														76			54		0	0	0.014410	0	0
ZNF253	56242	broad.mit.edu	37	19	20003291	20003291	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr19:20003291C>T	uc002noj.3	+	3	1327	c.1235C>T	c.(1234-1236)tCc>tTc	p.S412F	ZNF253_uc002nok.3_Missense_Mutation_p.S336F|ZNF253_uc002nol.3_Non-coding_Transcript	NM_021047	NP_066385	O75346	ZN253_HUMAN	Homo sapiens zinc finger protein 253 (ZNF253), mRNA.	412				Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCAATCCTCTCCAAACATAAA	0.388000														16			15		0	0	0.004990	0	0
RANBP2	5903	broad.mit.edu	37	2	109370389	109370389	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr2:109370389A>T	uc002tem.4	+	14	2290	c.2164A>T	c.(2164-2166)Ata>Tta	p.I722L		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	722					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AATAAAGATTATAGATGACAG	0.378000														150			87		0	0	0.014410	0	0
RNF31	55072	broad.mit.edu	37	14	24626550	24626550	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr14:24626550C>T	uc001wmn.1	+	14	2794	c.2545C>T	c.(2545-2547)Cgc>Tgc	p.R849C	RNF31_uc001wml.1_Missense_Mutation_p.R698C|RNF31_uc010alg.1_Missense_Mutation_p.R608C|RNF31_uc001wmo.1_Missense_Mutation_p.R316C|RNF31_uc001wmp.3_Non-coding_Transcript|RNF31_uc010alh.1_Missense_Mutation_p.R33C	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	849					CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GAACTGGAAACGCATGAACGA	0.567000														11			15		0	0	0.003163	0	0
PLCH2	9651	broad.mit.edu	37	1	2436173	2436173	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr1:2436173G>A	uc001aji.1	+	21	4043	c.3769G>A	c.(3769-3771)Ggc>Agc	p.G1257S	PLCH2_uc010nyz.2_3'UTR|PLCH2_uc009vle.1_Missense_Mutation_p.G1010S|PLCH2_uc001ajj.1_3'UTR|PLCH2_uc001ajk.1_3'UTR|PLCH2_uc001ajl.1_Missense_Mutation_p.G110S	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	1258					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CAAGAGCCTGGGCGACCTCAC	0.701000														28			15		0	0	0.004990	0	0
DNAH11	8701	broad.mit.edu	37	7	21678590	21678590	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr7:21678590C>A	uc003svc.3	+	27	4897	c.4866C>A	c.(4864-4866)taC>taA	p.Y1622*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1622	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCGCTGAATACCTGGAAACCA	0.388000									Kartagener syndrome					113			42		2.95478e-19	1.46933e-18	0.008740	1	0
POLR2B	5431	broad.mit.edu	37	4	57891054	57891054	+	Silent	SNP	A	G	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr4:57891054A>G	uc003hcl.1	+	21	3010	c.2967A>G	c.(2965-2967)gtA>gtG	p.V989V	POLR2B_uc011cae.1_Silent_p.V982V|POLR2B_uc011caf.1_Silent_p.V914V|POLR2B_uc003hcm.1_Silent_p.V482V	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	989					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTTAAAAGGTATCGGCTAACA	0.313000														43			35		0	0	0.003271	0	0
TIMM21	29090	broad.mit.edu	37	18	71816322	71816322	+	Silent	SNP	C	G	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr18:71816322C>G	uc010dqr.1	+	0	577	c.279C>G	c.(277-279)acC>acG	p.T93T	FBXO15_uc002lle.2_5'Flank|FBXO15_uc002llf.2_5'Flank	NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 21 homolog (yeast) (TIMM21), nuclear gene encoding mitochondrial protein, mRNA.	93					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane											GAGGGGGAACCGCCGTCCCAA	0.498000														23			31		0	0	0.008361	0	0
NCOA4	8031	broad.mit.edu	37	10	51586276	51586276	+	Silent	SNP	A	T	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr10:51586276A>T	uc001jis.4	+	8	1907	c.1704A>T	c.(1702-1704)gtA>gtT	p.V568V	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|NCOA4_uc009xon.3_Silent_p.V584V|NCOA4_uc010qhd.2_Silent_p.V584V|NCOA4_uc010qhe.2_Silent_p.V468V|NCOA4_uc010qhf.2_Silent_p.V402V|NCOA4_uc001jit.3_Silent_p.V568V|NCOA4_uc009xoo.3_Silent_p.V568V	NM_001145263	NP_005428	Q13772	NCOA4_HUMAN	Homo sapiens nuclear receptor coactivator 4 (NCOA4), transcript variant 4, mRNA.	568					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TGCAGGAAGTATTACTTAATT	0.398000			T	RET	papillary thyroid									70			39		0	0	0.005524	0	0
HEXDC	284004	broad.mit.edu	37	17	80382347	80382347	+	Silent	SNP	T	C	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr17:80382347T>C	uc002kev.4	+	2	578	c.162T>C	c.(160-162)ccT>ccC	p.P54P	HEXDC_uc002kew.3_Silent_p.P54P	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA.	54					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			ACGAGGGCCCTCTGAGGCTGC	0.612000														78			33		0	0	0.012213	0	0
DPPA3	359787	broad.mit.edu	37	12	7867786	7867786	+	Silent	SNP	T	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr12:7867786T>A	uc001qtf.3	+	1	168	c.90T>A	c.(88-90)tcT>tcA	p.S30S		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	30						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CAGGGGCCTCTCAAATCTCCT	0.468000														105			80		0	0	0.014410	0	0
SACM1L	22908	broad.mit.edu	37	3	45773632	45773632	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr3:45773632A>T	uc003cos.2	+	12	1293	c.1089A>T	c.(1087-1089)caA>caT	p.Q363H	SACM1L_uc011bag.1_Missense_Mutation_p.Q260H|SACM1L_uc011bah.1_Missense_Mutation_p.Q297H|SACM1L_uc003cot.2_5'Flank	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN	Homo sapiens SAC1 suppressor of actin mutations 1-like (yeast) (SACM1L), mRNA.	363	SAC.					Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		CAGAAATGCAAGATGAATTAA	0.338000														65			54		0	0	0.014410	0	0
ZNF521	25925	broad.mit.edu	37	18	22902006	22902006	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr18:22902006G>C	uc002kvk.2	-	2	433	c.186C>G	c.(184-186)atC>atG	p.I62M	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.I62M|ZNF521_uc002kvl.2_5'UTR	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	62					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGTGTTCTGTGATATCGCTCA	0.418000			T	PAX5	ALL									82			3		0	0	0.004672	0	0
PTEN	5728	broad.mit.edu	37	10	89717669	89717669	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr10:89717669A>G	uc001kfb.3	+	6	1726	c.694A>G	c.(694-696)Aca>Gca	p.T232A	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	232	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.P231fs*12(1)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.(T232)fs(1)|p.T232fs*24(1)|p.T232fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTCAGGACCCACACGACGGGA	0.423000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				49			24		0	0	0.003954	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904155	21904155	+	RNA	SNP	G	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr17:21904155G>A	uc002gza.2	+	0		c.94G>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		aaccacaggcggagtccgggg	0.682000														115			7		0	0	0.003080	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43213794	43213794	+	Silent	SNP	A	G	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr22:43213794A>G	uc003bdd.2	-	9	1102	c.882T>C	c.(880-882)atT>atC	p.I294I	ARFGAP3_uc010gzf.2_Silent_p.I250I|ARFGAP3_uc011apu.1_Silent_p.I222I	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA.	294					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|cytosol	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TTTTGCCACtaatgttcatct	0.348000														63			55		0	0	0.014410	0	0
RRAGB	10325	broad.mit.edu	37	X	55744773	55744773	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chrX:55744773G>A	uc004dup.3	+	0	664	c.13G>A	c.(13-15)Gac>Aac	p.D5N	RRAGB_uc004duq.3_Missense_Mutation_p.D5N	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Homo sapiens Ras-related GTP binding B (RRAGB), transcript variant RAGBl, mRNA.	5					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GGAAGAATCTGACTCTGAGAA	0.463000											OREG0019812	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1			10		0	0	0.006214	0	0
DCLK1	9201	broad.mit.edu	37	13	36700222	36700222	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr13:36700222G>A	uc001uvf.3	-	1	336	c.53C>T	c.(52-54)gCg>gTg	p.A18V		NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	18					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GTATCTCTGCGCCTTATCCCG	0.622000														53			16		0	0	0.004007	0	0
SPAG5	10615	broad.mit.edu	37	17	26911390	26911390	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr17:26911390A>G	uc002hbq.3	-	11	2362	c.2270T>C	c.(2269-2271)cTc>cCc	p.L757P	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	757	Gln-rich.				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					AAGCTGGCAGAGTAACTCATC	0.522000														103			222		0	0	0.014410	0	0
CYP21A1P	1590	broad.mit.edu	37	6	31974158	31974158	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr6:31974158A>G	uc021yve.1	+	0	800	c.238A>G	c.(238-240)Aga>Gga	p.R80G	CYP21A2_uc021yvd.1_Missense_Mutation_p.K103R			Q5ST44	Q5ST44_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene (CYP21A1P), non-coding RNA.	0							electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										CTGGTGTCTAAGAACTACCCG	0.607000														4			5		0	0	0.000602	0	0
DHX29	54505	broad.mit.edu	37	5	54591351	54591351	+	Splice_Site	SNP	A	G	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr5:54591351A>G	uc003jpx.3	-	5	626	c.506_splice	c.e5-1	p.D169_splice	DHX29_uc010ivw.3_Splice_Site	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	169							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CAGGAAGTGCATCTTAAAATA	0.348000														25			21		0	0	0.010504	0	0
UBE4A	9354	broad.mit.edu	37	11	118250228	118250228	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr11:118250228C>T	uc001psw.3	+	10	1774	c.1639C>T	c.(1639-1641)Cag>Tag	p.Q547*	UBE4A_uc001psv.3_Nonsense_Mutation_p.Q554*	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	547					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GCGGGATGCTCAGCAAAGTTC	0.493000														39			47		0	0	0.011902	0	0
PTPN14	5784	broad.mit.edu	37	1	214556993	214556993	+	Silent	SNP	G	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr1:214556993G>A	uc001hkk.2	-	12	2858	c.2205C>T	c.(2203-2205)gcC>gcT	p.A735A	PTPN14_uc021piy.1_Silent_p.A499A|PTPN14_uc010pty.2_Silent_p.A636A	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	735					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CCTGCAGCTGGGCACTGTACT	0.632000														34			21		0	0	0.014323	0	0
ZGPAT	84619	broad.mit.edu	37	20	62366823	62366823	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr20:62366823T>C	uc002ygk.3	+	5	1553	c.1364T>C	c.(1363-1365)cTg>cCg	p.L455P	ZGPAT_uc002ygi.2_Missense_Mutation_p.L435P|ZGPAT_uc010gkk.2_Missense_Mutation_p.L12P|ZGPAT_uc010gkl.2_Missense_Mutation_p.L435P|ZGPAT_uc002ygm.3_Missense_Mutation_p.L426P|ZGPAT_uc002ygj.2_Missense_Mutation_p.L435P|ZGPAT_uc002ygn.4_Non-coding_Transcript|ZGPAT_uc011abi.2_5'Flank|ZGPAT_uc002ygp.4_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.	455					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					AAGCGGGCCCTGAGCCTGCGG	0.667000														17			24		0	0	0.003954	0	0
CYP4A11	1579	broad.mit.edu	37	1	47402352	47402352	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr1:47402352G>C	uc001cqp.4	-	3	545	c.494C>G	c.(493-495)tCt>tGt	p.S165C	CYP4A11_uc001cqq.2_Missense_Mutation_p.S165C|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	165					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CACTCGTACAGAGTCTGCCAT	0.562000														33			19		0	0	0.010504	0	0
AK300121	0	broad.mit.edu	37	12	52647401	52647401	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr12:52647401G>A	uc010snr.1	-	4	728	c.380C>T	c.(379-381)tCc>tTc	p.S127F	KRT86_uc010snq.2_Intron					SubName: Full=cDNA FLJ60029, highly similar to Keratin, type II cuticular Hb3;																		GCGGTACCAGGACTCGGCCTC	0.552000														14			6		0	0	0.001984	0	0
NLRX1	79671	broad.mit.edu	37	11	119044337	119044337	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr11:119044337C>T	uc001pvu.3	+	4	594	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S	NLRX1_uc010rzc.1_5'UTR|NLRX1_uc001pvv.3_Missense_Mutation_p.P127S|NLRX1_uc001pvw.3_Missense_Mutation_p.P127S|NLRX1_uc001pvx.3_Missense_Mutation_p.P127S	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	127	Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ACTTCGCCCACCCGCGGAGCT	0.667000														22			14		0	0	0.003163	0	0
MYO3B	140469	broad.mit.edu	37	2	171375969	171375969	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr2:171375969G>A	uc002ufy.3	+	29	3637	c.3494G>A	c.(3493-3495)cGt>cAt	p.R1165H	MYO3B_uc002ufv.3_Missense_Mutation_p.R1152H|MYO3B_uc010fqb.1_Missense_Mutation_p.R1165H|MYO3B_uc002ufz.3_Missense_Mutation_p.R1138H|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	1165			R -> C (in dbSNP:rs56052422).		response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity	p.H1164Y(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TCTGTACATCGTAGGAGCCAT	0.468000														38			19		0	0	0.014323	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048585	42048585	+	Silent	SNP	A	T	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr1:42048585A>T	uc001cgz.4	-	3	3097	c.1884T>A	c.(1882-1884)ctT>ctA	p.L628L	HIVEP3_uc001cha.4_Silent_p.L628L|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	628	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.L628F(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCTTTTTGGTAAGCTCGCTTT	0.493000														79			49		0	0	0.014410	0	0
SYN1	6853	broad.mit.edu	37	X	47432308	47432308	+	Silent	SNP	G	C	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chrX:47432308G>C	uc004die.3	-	12	2202	c.2073C>G	c.(2071-2073)acC>acG	p.T691T	SYN1_uc004did.3_3'UTR	NM_006950	NP_008881	P17600	SYN1_HUMAN	Homo sapiens synapsin I (SYN1), transcript variant Ia, mRNA.	691	E.					Golgi apparatus|cell junction	ATP binding|actin binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						GGCTGCGGATGGTCTCAGCTT	0.582000														2			50		0	0	0.014410	0	0
SLC22A13	9390	broad.mit.edu	37	3	38317429	38317429	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr3:38317429T>C	uc003chz.3	+	6	1133	c.1079T>C	c.(1078-1080)cTg>cCg	p.L360P	SLC22A13_uc011aym.1_Non-coding_Transcript|SLC22A13_uc011ayn.1_Missense_Mutation_p.L360P	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 13 (SLC22A13), mRNA.	360						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GACTTCGGCCTGGACGTCTAT	0.572000														41			23		0	0	0.004656	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52902541	52902541	+	Silent	SNP	G	T	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr1:52902541G>T	uc001cty.2	-	25	4301	c.4048C>A	c.(4048-4050)Cga>Aga	p.R1350R	ZCCHC11_uc001ctx.2_Silent_p.R1349R	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	1349					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CTAAAGTCTCGAGTATCGTGG	0.483000														78			67		8.24881e-48	4.29724e-47	0.014410	1	0
SFI1	9814	broad.mit.edu	37	22	32002357	32002357	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr22:32002357G>C	uc003ale.3	+	20	2491	c.2098G>C	c.(2098-2100)Gat>Cat	p.D700H	SFI1_uc003alf.3_Missense_Mutation_p.D669H|SFI1_uc003alg.3_Missense_Mutation_p.D618H|SFI1_uc011alp.2_Missense_Mutation_p.D618H|SFI1_uc011alq.2_Missense_Mutation_p.D645H|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Intron	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	700					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GGCCCGAGTGGATGAAGCCAA	0.517000														26			17		0	0	0.002780	0	0
SULT1C4	27233	broad.mit.edu	37	2	109002781	109002781	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr2:109002781T>C	uc002tea.1	+	5	1122	c.749T>C	c.(748-750)aTt>aCt	p.I250T	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Missense_Mutation_p.I175T	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	250					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TATTCATCGATTCCTGCTGAA	0.299000														44			43		0	0	0.014410	0	0
ZNF471	57573	broad.mit.edu	37	19	57037192	57037192	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr19:57037192T>C	uc002qnh.3	+	4	1889	c.1756T>C	c.(1756-1758)Tgt>Cgt	p.C586R		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	Homo sapiens zinc finger protein 471 (ZNF471), mRNA.	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S585Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TAGCTCATCCTGTGCTCAGCA	0.408000														38			25		0	0	0.005443	0	0
PLXND1	23129	broad.mit.edu	37	3	129290142	129290142	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr3:129290142C>G	uc003emx.2	-	17	3441	c.3341G>C	c.(3340-3342)tGc>tCc	p.C1114S		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1114	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GAGAACCTTGCAGAGCTGGTG	0.637000														12			8		0	0	0.003080	0	0
FKBP4	2288	broad.mit.edu	37	12	2909052	2909052	+	Silent	SNP	A	G	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr12:2909052A>G	uc001qkz.3	+	5	906	c.708A>G	c.(706-708)caA>caG	p.Q236Q		NM_002014	NP_002005	Q02790	FKBP4_HUMAN	Homo sapiens FK506 binding protein 4, 59kDa (FKBP4), mRNA.	236	PPIase FKBP-type 2.				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	AAAAGTTCCAAATCCCACCAA	0.438000														13			14		0	0	0.004990	0	0
C6orf47	57827	broad.mit.edu	37	6	31627425	31627425	+	Silent	SNP	A	G	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr6:31627425A>G	uc003nvm.1	-	0	1125	c.300T>C	c.(298-300)acT>acC	p.T100T		NM_021184	NP_067007	O95873	CF047_HUMAN	Homo sapiens chromosome 6 open reading frame 47 (C6orf47), mRNA.	100										NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						CAGACTCTTGAGTGCTAGAGA	0.577000														45			30		0	0	0.007291	0	0
SLC38A3	10991	broad.mit.edu	37	3	50252997	50252997	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr3:50252997T>C	uc003cyn.4	+	5	533	c.392T>C	c.(391-393)cTg>cCg	p.L131P	SLC38A3_uc011bdl.2_Missense_Mutation_p.L107P|SLC38A3_uc011bdm.2_Missense_Mutation_p.L63P	NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	132					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	TATGAGCAGCTGGGCTACCGT	0.622000														30			20		0	0	0.002780	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55362679	55362679	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr19:55362679C>A	uc002qho.4	+	1	72	c.39C>A	c.(37-39)ttC>ttA	p.F13L	KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc002qhn.1_Intron|KIR3DL2_uc010esh.3_Missense_Mutation_p.F13L	NM_006737	NP_006728	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 (KIR3DL2), transcript variant 1, mRNA.	13					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TTCCAGGGTTCTTCTTGCTGC	0.557000														216			14		3.41278e-10	1.65203e-09	0.004990	1	0
OR2AE1	81392	broad.mit.edu	37	7	99474253	99474253	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr7:99474253A>G	uc003usc.1	-	0	404	c.404T>C	c.(403-405)cTc>cCc	p.L135P		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AE, member 1 (OR2AE1), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CTTGTTCATGAGCACAGCATA	0.483000														97			3		0	0	0.004672	0	0
COPS7B	64708	broad.mit.edu	37	2	232663673	232663673	+	Splice_Site	SNP	A	G	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr2:232663673A>G	uc002vsh.1	+	6	739	c.636_splice	c.e6+1	p.E212_splice	COPS7B_uc010fxy.1_Splice_Site_p.E178_splice|COPS7B_uc002vsg.1_Splice_Site_p.E212_splice|COPS7B_uc002vsi.1_Splice_Site_p.E105_splice|COPS7B_uc002vsj.1_Splice_Site|COPS7B_uc002vsk.1_Splice_Site_p.E105_splice			Q9H9Q2	CSN7B_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis) (COPS7B), mRNA.	212					cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GTAGAAGCAGAGGTAAGGAAG	0.448000														9			8		0	0	0.003080	0	0
HSPG2	3339	broad.mit.edu	37	1	22214014	22214014	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr1:22214014C>A	uc009vqd.3	-	7	897	c.857G>T	c.(856-858)gGg>gTg	p.G286V	HSPG2_uc001bfj.3_Missense_Mutation_p.G286V|HSPG2_uc009vqe.1_Missense_Mutation_p.G185C	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	286	LDL-receptor class A 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTCCTGGGGCCCACAGGGCAG	0.657000														34			33		1.22384e-17	5.97712e-17	0.013726	1	0
KIAA0391	9692	broad.mit.edu	37	14	35592664	35592664	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr14:35592664T>G	uc001wsy.1	+	1	573	c.213T>G	c.(211-213)gaT>gaG	p.D71E	KIAA0391_uc010tps.1_Intron|KIAA0391_uc001wsz.1_Missense_Mutation_p.D71E|KIAA0391_uc001wta.3_Non-coding_Transcript|KIAA0391_uc001wtc.1_Intron|PPP2R3C_uc001wss.3_5'Flank|PPP2R3C_uc001wst.3_5'Flank|PPP2R3C_uc010tpr.2_5'Flank|PPP2R3C_uc001wsu.3_5'Flank|PPP2R3C_uc010amn.1_5'Flank|PPP2R3C_uc001wsw.3_5'Flank|PPP2R3C_uc001wsx.1_5'Flank	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Homo sapiens KIAA0391 (KIAA0391), mRNA.	71					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		TCAGGAAAGATGAGGGCAGTA	0.408000														26			23		0	0	0.014323	0	0
CCNT1	904	broad.mit.edu	37	12	49087909	49087909	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr12:49087909G>T	uc001rsd.4	-	8	1411	c.1088C>A	c.(1087-1089)tCc>tAc	p.S363Y	CCNT1_uc009zkz.2_Missense_Mutation_p.S78Y|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	363					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CTGTGGTAAGGAATGATCAAC	0.458000														88			72		1.43987e-31	7.43026e-31	0.014410	1	0
KRT27	342574	broad.mit.edu	37	17	38938378	38938378	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr17:38938378A>G	uc002hvg.3	-	0	409	c.368T>C	c.(367-369)tTt>tCt	p.F123S		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	Homo sapiens keratin 27 (KRT27), mRNA.	123	Linker 1.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				ACCAGGTCCAAATTTCTCATA	0.498000														145			8		0	0	0.006214	0	0
PITRM1	10531	broad.mit.edu	37	10	3206029	3206029	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr10:3206029G>A	uc009xhv.2	-	6	748	c.679C>T	c.(679-681)Cct>Tct	p.P227S	PITRM1_uc001igr.2_Missense_Mutation_p.P227S|PITRM1_uc001igt.2_Missense_Mutation_p.P227S|PITRM1_uc010qah.2_Missense_Mutation_p.P195S|PITRM1_uc001igu.1_Missense_Mutation_p.P219S|PITRM1_uc010qai.2_Missense_Mutation_p.P198S|BC039685_uc001igx.1_5'Flank	NM_001242307	NP_001229236	E7ES23	E7ES23_HUMAN	Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	195					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GTGTGGTCAGGAAGAAGTCTG	0.448000														26			27		0	0	0.004656	0	0
PNP	4860	broad.mit.edu	37	14	20944608	20944608	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr14:20944608C>T	uc001vxo.4	+	5	864	c.718C>T	c.(718-720)Ctc>Ttc	p.L240F	PNP_uc021rns.1_Missense_Mutation_p.L111F	NM_000270	NP_000261	P00491	PNPH_HUMAN	Homo sapiens purine nucleoside phosphorylase (PNP), mRNA.	240					NAD biosynthesis via nicotinamide riboside salvage pathway|immune response|inosine catabolic process|interleukin-2 secretion|nicotinamide riboside catabolic process|positive regulation of T cell proliferation|positive regulation of alpha-beta T cell differentiation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	TGGCTTCTCACTCATCACTAA	0.458000														42			33		0	0	0.012213	0	0
TMCO6	55374	broad.mit.edu	37	5	140021512	140021512	+	Silent	SNP	G	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr5:140021512G>A	uc003lgm.3	+	3	473	c.372G>A	c.(370-372)ctG>ctA	p.L124L	TMCO6_uc011czj.1_3'UTR|TMCO6_uc003lgl.3_Silent_p.L124L|TMCO6_uc010jft.3_Intron|TMCO6_uc003lgn.3_Silent_p.L15L|TMCO6_uc003lgo.3_5'Flank	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	Homo sapiens transmembrane and coiled-coil domains 6 (TMCO6), mRNA.	124					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCCTGCTGCAGCTTGAGG	0.622000														45			32		0	0	0.010818	0	0
OR4A16	81327	broad.mit.edu	37	11	55110978	55110978	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr11:55110978T>C	uc010rie.2	+	0	302	c.302T>C	c.(301-303)aTa>aCa	p.I101T		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CAGCTCTTCATAGAACACTTA	0.443000														196			17		0	0	0.007413	0	0
SLMAP	7871	broad.mit.edu	37	3	57827089	57827089	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr3:57827089T>C	uc003dje.1	+	2	615	c.410T>C	c.(409-411)cTc>cCc	p.L137P	SLMAP_uc003djc.1_Missense_Mutation_p.L137P|SLMAP_uc003djd.1_Missense_Mutation_p.L137P|SLMAP_uc003djf.1_Missense_Mutation_p.L137P	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	Homo sapiens sarcolemma associated protein (SLMAP), mRNA.	137	Necessary for targeting to centrosomes (By similarity).				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GAAGCCCGGCTCCGCTCAGAG	0.338000														33			28		0	0	0.003271	0	0
C1QTNF6	114904	broad.mit.edu	37	22	37578251	37578251	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr22:37578251G>C	uc003aqx.1	-	2	1077	c.814C>G	c.(814-816)Ctc>Gtc	p.L272V	C1QTNF6_uc003aqw.1_Missense_Mutation_p.L253V|C1QTNF6_uc003aqy.1_Missense_Mutation_p.L272V|C1QTNF6_uc003aqz.1_Non-coding_Transcript	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 6 (C1QTNF6), transcript variant 2, mRNA.	253						collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						GCCTTGATGAGGTGGCCGCTG	0.657000														13			12		0	0	0.004007	0	0
CAND1	55832	broad.mit.edu	37	12	67699344	67699344	+	Silent	SNP	G	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr12:67699344G>A	uc001stn.2	+	9	2333	c.1896G>A	c.(1894-1896)ttG>ttA	p.L632L	CAND1_uc001sto.2_Silent_p.L142L	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	632					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TAAAGGCATTGACACTGATTG	0.408000														62			58		0	0	0.014410	0	0
AK308867	0	broad.mit.edu	37	16	70267573	70267573	+	RNA	SNP	C	T	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr16:70267573C>T	uc010cfp.1	-	3		c.371G>A								Homo sapiens cDNA, FLJ98908.																		CTGCTGCATGCCTGCAGACAG	0.373000														5			11		0	0	0.002450	0	0
STXBP2	6813	broad.mit.edu	37	19	7712265	7712265	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr19:7712265A>T	uc010xjr.2	+	17	1642	c.1597A>T	c.(1597-1599)Aac>Tac	p.N533Y	STXBP2_uc002mha.4_Missense_Mutation_p.N522Y|STXBP2_uc002mhb.4_Missense_Mutation_p.N519Y|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_3'UTR	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	522					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTGGCACAAGAACAAGGCTGG	0.662000														25			18		0	0	0.008871	0	0
DOCK6	57572	broad.mit.edu	37	19	11312680	11312680	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr19:11312680G>C	uc002mqs.4	-	43	5614	c.5573C>G	c.(5572-5574)cCg>cGg	p.P1858R	DOCK6_uc002mqr.4_Missense_Mutation_p.P258R|DOCK6_uc010xlq.2_Missense_Mutation_p.P1197R	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	1858	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCGCCCATCCGGCGTGAACGG	0.597000														18			9		0	0	0.006214	0	0
VTI1B	10490	broad.mit.edu	37	14	68118141	68118141	+	Silent	SNP	C	T	T			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr14:68118141C>T	uc001xjt.3	-	5	1056	c.660G>A	c.(658-660)ctG>ctA	p.L220L	ARG2_uc001xjs.3_3'UTR|VTI1B_uc010aqp.3_Silent_p.L159L|VTI1B_uc001xju.3_Silent_p.L179L	NM_006370	NP_006361	Q9UEU0	VTI1B_HUMAN	Homo sapiens vesicle transport through interaction with t-SNAREs homolog 1B (yeast) (VTI1B), mRNA.	220					cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane				endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		CCAGGCCTCCCAGGATGGCGA	0.453000														34			38		0	0	0.008740	0	0
MFN2	9927	broad.mit.edu	37	1	12061548	12061549	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr1:12061548_12061549delTT	uc001atn.4	+	8	1360_1361	c.907_908delTT	c.(907-909)tttfs	p.F303fs	MFN2_uc009vni.3_Frame_Shift_Del_p.F303fs	NM_014874	NP_055689	O95140	MFN2_HUMAN	Homo sapiens mitofusin 2 (MFN2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	303					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CCGCATCTTCTTTGTGTCTGCT	0.574													---	21	---	---	26	---					
ADAMTS9	56999	broad.mit.edu	37	3	64536694	64536703	+	Frame_Shift_Del	DEL	CACCACCTTG	-	-	rs17071010	byFrequency	TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr3:64536694_64536703delCACCACCTTG	uc003dmg.3	-	30	4766_4775	c.4734_4743delCAAGGTGGTG	c.(4732-4743)cgcaaggtggtgfs	p.R1578fs	ADAMTS9_uc011bfo.2_Frame_Shift_Del_p.R1550fs|ADAMTS9_uc003dmh.1_Frame_Shift_Del_p.R1407fs|ADAMTS9_uc011bfp.1_Frame_Shift_Del_p.R489fs	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1578	TSP type-1 13.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.V1581M(2)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CATCCACACACACCACCTTGCGGTACCTGG	0.500													---	109	---	---	26	---					
TCERG1	10915	broad.mit.edu	37	5	145886722	145886723	+	Frame_Shift_Ins	INS	-	A	A			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr5:145886722_145886723insA	uc003lob.3	+	18	2902_2903	c.2862_2863insA	c.(2860-2865)accaaafs	p.T954fs	TCERG1_uc003loc.3_Frame_Shift_Ins_p.T933fs	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	954					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCACTTACCAAAAAAAAGAG	0.376													---	93	---	---	7	---					
MLL3	58508	broad.mit.edu	37	7	151880116	151880116	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr7:151880116delA	uc003wla.3	-	34	5427	c.5208delT	c.(5206-5208)tttfs	p.F1736fs	MLL3_uc003wkz.3_Frame_Shift_Del_p.F797fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1736	Gln-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.L1735F(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AAGGATCTTTAAAAAGCTCCG	0.343			N		medulloblastoma								---	180	---	---	289	---					
MATN2	4147	broad.mit.edu	37	8	98943606	98943609	+	Frame_Shift_Del	DEL	CTAA	-	-			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr8:98943606_98943609delCTAA	uc003yic.3	+	2	799_802	c.568_571delCTAA	c.(568-573)ctaatcfs	p.L190fs	MATN2_uc003yib.1_Frame_Shift_Del_p.L190fs|MATN2_uc010mbh.1_Frame_Shift_Del_p.L190fs|MATN2_uc003yid.3_Frame_Shift_Del_p.L190fs|MATN2_uc003yie.1_Frame_Shift_Del_p.L190fs|MATN2_uc010mbi.1_Frame_Shift_Del_p.L64fs	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	190	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CACGGGCATCCTAATCTTTGCCAT	0.559													---	26	---	---	19	---					
FAM86C2P	645332	broad.mit.edu	37	11	67572734	67572734	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr11:67572734delC	uc001omt.4	-	0	74	c.51delG	c.(49-51)gagfs	p.E17fs						Homo sapiens family with sequence similarity 86, member C2, pseudogene (FAM86C2P), non-coding RNA.																		GGAAGCGGCGCTCCAAACTCT	0.756													---	3	---	---	4	---					
PAK1	5058	broad.mit.edu	37	11	77047284	77047284	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr11:77047284delT	uc001oyh.4	-	12	1793	c.1260delA	c.(1258-1260)aaafs	p.K420fs	PAK1_uc010rso.2_Frame_Shift_Del_p.K322fs|PAK1_uc001oyg.4_Frame_Shift_Del_p.K420fs|PAK1_uc001oyi.1_Frame_Shift_Del_p.K420fs|PAK1_uc010rsn.2_Frame_Shift_Del_p.K133fs	NM_002576	NP_002567	Q13153	PAK1_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 1 (PAK1), transcript variant 2, mRNA.	420	Protein kinase.				ER-nucleus signaling pathway|T cell costimulation|T cell receptor signaling pathway|apoptosis|axon guidance|cytoskeleton organization|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation	Golgi apparatus|cytosol|focal adhesion	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					TGGTGCTCCGTTTGCTCTGCT	0.473													---	62	---	---	43	---					
ADAMTS20	80070	broad.mit.edu	37	12	43823478	43823478	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr12:43823478delA	uc010skx.2	-	23	3431	c.3431delT	c.(3430-3432)ttafs	p.L1144fs	ADAMTS20_uc001rno.1_Intron|ADAMTS20_uc001rnp.1_Frame_Shift_Del_p.L298fs	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1144						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGTTGGTAATAAAGCGGTCTC	0.343													---	15	---	---	12	---					
MLL2	8085	broad.mit.edu	37	12	49435198	49435199	+	Frame_Shift_Ins	INS	-	G	G			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr12:49435198_49435199insG	uc001rta.4	-	30	6354_6355	c.6354_6355insC	c.(6352-6357)cccgctfs	p.P2118fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2118	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.A2119fs*36(1)|p.A1849fs*36(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGGGCAGCAGCGGGGGGCGGGC	0.688			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			---	20	---	---	19	---					
KBTBD6	89890	broad.mit.edu	37	13	41705610	41705612	+	In_Frame_Del	DEL	CAC	-	-			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr13:41705610_41705612delCAC	uc001uxu.1	-	0	1325_1327	c.1036_1038delGTG	c.(1036-1038)gtgdel	p.V346del	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	346							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CAAAGAAGATCACCATCTCCTTG	0.527													---	58	---	---	28	---					
ZIC2	7546	broad.mit.edu	37	13	100635008	100635010	+	In_Frame_Del	DEL	CCA	-	-			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr13:100635008_100635010delCCA	uc001von.3	+	0	983_985	c.690_692delCCA	c.(688-693)gcccac>gcc	p.H239del		NM_007129	NP_009060	O95409	ZIC2_HUMAN	Homo sapiens Zic family member 2 (ZIC2), mRNA.	239	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-His.		H -> HH.|Missing.		brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCCGCGGCccaccaccaccac	0.621													---	62	---	---	9	---					
COX5A	9377	broad.mit.edu	37	15	75221461	75221461	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr15:75221461delA	uc002azi.4	-	1	353	c.213delT	c.(211-213)cgtfs	p.R71fs		NM_004255	NP_004246	P20674	COX5A_HUMAN	Homo sapiens cytochrome c oxidase subunit Va (COX5A), nuclear gene encoding mitochondrial protein, mRNA.	71					respiratory electron transport chain	mitochondrial inner membrane	cytochrome-c oxidase activity|electron carrier activity|metal ion binding			endometrium(1)|large_intestine(1)|pancreas(1)	3						AATTACCTTTACGCAATTCCC	0.413													---	74	---	---	34	---					
SLC46A1	113235	broad.mit.edu	37	17	26731859	26731859	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BQ-7051-01A-12D-1961-08	TCGA-BQ-7051-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b9c9f82-1e35-4ff6-94dc-0d2af8f0219b	d10a271b-6cf9-4623-a59e-f8cb7afcaca5	g.chr17:26731859delC	uc002hbf.2	-	1	954	c.856delG	c.(856-858)gacfs	p.D286fs	SLC46A1_uc021ttr.1_Frame_Shift_Del_p.D286fs|SLC46A1_uc010wak.2_Frame_Shift_Del_p.D286fs	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN	Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant 1, mRNA.	286					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	GTTAAGATGTCCTGGGCCCCA	0.542													---	42	---	---	70	---					
