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
GABRG3	2567	broad.mit.edu	37	15	27777965	27777965	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr15:27777965T>C	uc001zbg.2	+	9	1596	c.1342T>C	c.(1342-1344)Ttt>Ctt	p.F448L		NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	448					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.V447F(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CTCCCGGGTCTTTTTCCCCAC	0.473000														52			3		0	0	6.4e-05	0	0
WDR33	55339	broad.mit.edu	37	2	128474756	128474756	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr2:128474756G>A	uc002tpg.2	-	16	3041	c.2842C>T	c.(2842-2844)Ccc>Tcc	p.P948S		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	948					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CCTTGTCCGGGGTTCAGAGGG	0.473000														15			11		0	0	0.000673444	0	0
PITX3	5309	broad.mit.edu	37	10	103990752	103990752	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr10:103990752G>T	uc001kuu.1	-	3	582	c.428C>A	c.(427-429)cCc>cAc	p.P143H		NM_005029	NP_005020	O75364	PITX3_HUMAN	Homo sapiens paired-like homeodomain 3 (PITX3), mRNA.	143					dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CTCCTCGTAGGGCGGCACCAG	0.682000														3			11		1.58986e-06	3.14086e-05	0.000673444	1	0
TGFBR1	7046	broad.mit.edu	37	9	101894937	101894937	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr9:101894937C>G	uc004azc.3	+	2	566	c.490C>G	c.(490-492)Cct>Gct	p.P164A	TGFBR1_uc004azd.3_Intron|TGFBR1_uc004aze.3_Missense_Mutation_p.P168A|TGFBR1_uc011lvc.2_Missense_Mutation_p.P95A	NM_004612	NP_004603	P36897	TGFR1_HUMAN	Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 1, mRNA.	164					activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of SMAD protein import into nucleus|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TGAAGAGGACCCTTCATTAGA	0.438000														83			37		0	0	0.00128727	0	0
C12orf54	121273	broad.mit.edu	37	12	48888593	48888593	+	Silent	SNP	T	C	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr12:48888593T>C	uc001rrr.3	+	7	386	c.255T>C	c.(253-255)ccT>ccC	p.P85P	C12orf54_uc009zky.1_Non-coding_Transcript	NM_152319	NP_689532	Q6X4T0	CL054_HUMAN	Homo sapiens chromosome 12 open reading frame 54 (C12orf54), mRNA.	85										endometrium(1)|large_intestine(4)	5						GCATAAGGCCTCCAGATTCCT	0.488000														87			57		0	0	0.000781405	0	0
PLD1	5337	broad.mit.edu	37	3	171394619	171394619	+	Silent	SNP	G	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr3:171394619G>A	uc003fhs.3	-	17	2348	c.2001C>T	c.(1999-2001)ttC>ttT	p.F667F	PLD1_uc003fht.3_Silent_p.F629F|PLD1_uc003fhu.4_5'Flank|PLD1_uc003fhv.1_5'UTR	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	667	Catalytic.				Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACCTGTCAATGAAATCTGCCC	0.542000														25			18		0	0	0.00074312	0	0
XKR3	150165	broad.mit.edu	37	22	17280836	17280836	+	Silent	SNP	G	T	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr22:17280836G>T	uc002zlv.3	-	2	512	c.414C>A	c.(412-414)atC>atA	p.I138I	XKR3_uc011agf.2_Silent_p.I138I	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	138						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TTCTCTTTGTGATGCTAACTT	0.398000														57			46		5.34276e-22	1.21787e-20	0.000781405	1	0
MTUS1	57509	broad.mit.edu	37	8	17581310	17581310	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr8:17581310A>G	uc003wxv.3	-	3	2794	c.2320T>C	c.(2320-2322)Tca>Cca	p.S774P	MTUS1_uc003wxt.3_5'Flank|MTUS1_uc011kyg.2_5'Flank|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Intron|MTUS1_uc010lsz.3_Missense_Mutation_p.S774P	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	774						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TTCACCCATGACGACTGTGCA	0.463000														67			46		0	0	0.000781405	0	0
TBL2	26608	broad.mit.edu	37	7	72988278	72988278	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr7:72988278G>A	uc003tyh.3	-	2	570	c.436C>T	c.(436-438)Cct>Tct	p.P146S	TBL2_uc011kex.2_Missense_Mutation_p.P110S|TBL2_uc010lbg.3_Missense_Mutation_p.P51S|TBL2_uc003tyi.3_Intron|TBL2_uc011key.2_Missense_Mutation_p.P17S	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.	146										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTGCAGTCAGGGCTGAAGCGC	0.612000														47			23		0	0	0.00047179	0	0
MYCT1	80177	broad.mit.edu	37	6	153043198	153043198	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr6:153043198G>T	uc003qpc.4	+	1	526	c.518G>T	c.(517-519)tGt>tTt	p.C173F		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	173						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TTTCTGCAATGTCCACCACTT	0.498000														49			38		1.47244e-24	3.40001e-23	0.00128727	1	0
MICALCL	84953	broad.mit.edu	37	11	12316190	12316190	+	Silent	SNP	C	T	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr11:12316190C>T	uc001mkg.1	+	2	1503	c.1212C>T	c.(1210-1212)gaC>gaT	p.D404D		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	404					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.D404Y(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GACTCAAAGACAAATCTTTTG	0.468000														97			57		0	0	0.000781405	0	0
DRG1	4733	broad.mit.edu	37	22	31799189	31799189	+	Splice_Site	SNP	A	G	G			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr22:31799189A>G	uc003aku.3	+	3	473	c.342_splice	c.e3+1	p.Q114_splice		NM_004147	NP_004138	Q9Y295	DRG1_HUMAN	Homo sapiens developmentally regulated GTP binding protein 1 (DRG1), mRNA.	114	G.				multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						GCCAAGATCCAGGTGAGTCAA	0.458000														47			3		0	0	6.4e-05	0	0
RNF157	114804	broad.mit.edu	37	17	74158077	74158077	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr17:74158077C>A	uc002jqz.3	-	9	868	c.799G>T	c.(799-801)Gaa>Taa	p.E267*	RNF157_uc002jra.3_Nonsense_Mutation_p.E267*	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	Homo sapiens ring finger protein 157 (RNF157), mRNA.	267							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			ACTTCGTCTTCAGCCACCTGG	0.527000														32			23		6.32553e-13	1.30777e-11	0.000720815	1	0
XPO5	57510	broad.mit.edu	37	6	43541219	43541219	+	Silent	SNP	G	C	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr6:43541219G>C	uc003ovp.3	-	1	436	c.225C>G	c.(223-225)gtC>gtG	p.V75V	POLH_uc010jyu.2_5'Flank|POLH_uc011dvl.1_5'Flank|POLH_uc003ovq.4_5'Flank	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	Homo sapiens exportin 5 (XPO5), mRNA.	75	Necessary for interaction with Ran.				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CTCCTTACTTGACAACGTGTT	0.433000														158			169		0	0	0.000781405	0	0
KLHDC1	122773	broad.mit.edu	37	14	50196254	50196254	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr14:50196254C>G	uc001www.3	+	7	788	c.698C>G	c.(697-699)aCt>aGt	p.T233S	NEMF_uc010anj.1_Intron|KLHDC1_uc010tqg.2_Missense_Mutation_p.T188S|KLHDC1_uc010tqh.2_Missense_Mutation_p.T148S	NM_172193	NP_751943	Q8N7A1	KLDC1_HUMAN	Homo sapiens kelch domain containing 1 (KLHDC1), mRNA.	233						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					GACACCTGGACTTGGTCTGGA	0.348000														26			19		0	0	0.000295444	0	0
TMC6	11322	broad.mit.edu	37	17	76115385	76115385	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr17:76115385G>C	uc002juj.1	-	12	1930	c.1804C>G	c.(1804-1806)Ctg>Gtg	p.L602V	TMC6_uc002jui.1_Missense_Mutation_p.L181V|TMC6_uc010dhf.1_Missense_Mutation_p.L435V|TMC6_uc002juk.2_Missense_Mutation_p.L602V|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Missense_Mutation_p.L602V	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	Homo sapiens transmembrane channel-like 6 (TMC6), transcript variant 2, mRNA.	602						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CACCAGGTCAGAGTCTGCCCA	0.622000														54			26		0	0	0.00106085	0	0
CYP1B1	1545	broad.mit.edu	37	2	38302357	38302357	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr2:38302357G>C	uc002rqo.2	-	1	577	c.175C>G	c.(175-177)Ctg>Gtg	p.L59V		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1), mRNA.	59					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	TTTCCGATCAGTGGCCACGCA	0.721000														6			6		0	0	0.00116845	0	0
SLC2A2	6514	broad.mit.edu	37	3	170723087	170723087	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr3:170723087G>A	uc003fhe.1	-	6	1259	c.950C>T	c.(949-951)tCc>tTc	p.S317F	SLC2A2_uc003fhf.1_Missense_Mutation_p.S144F|SLC2A2_uc011bpu.1_Missense_Mutation_p.S190F	NM_000340	NP_000331	P11168	GTR2_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA.	317					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	p.S317S(2)		central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			ATTGATTCCGGAAAATTGCTG	0.423000														121			6		0	0	0.000274275	0	0
SCYL3	57147	broad.mit.edu	37	1	169824950	169824950	+	Silent	SNP	A	T	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr1:169824950A>T	uc001ggs.2	-	11	1659	c.1461T>A	c.(1459-1461)acT>acA	p.T487T	SCYL3_uc010plw.1_Intron|SCYL3_uc001ggt.2_Intron	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	487					cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCTGTAAAAGAGTATTGTAGT	0.378000														26			16		0	0	0.000958276	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421455	62421455	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr20:62421455C>G	uc002ygv.2	-	1	857	c.656G>C	c.(655-657)gGa>gCa	p.G219A	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCCCACGTCTCCAGGCCATAG	0.602000														28			19		0	0	0.00152264	0	0
POTEG	404785	broad.mit.edu	37	14	19553567	19553567	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr14:19553567G>A	uc001vuz.1	+	0	203	c.151G>A	c.(151-153)Gat>Aat	p.D51N	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	51										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACCACGACGATTCTGCTAT	0.602000														543			22		0	0	0.00058488	0	0
LGI4	163175	broad.mit.edu	37	19	35617832	35617832	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr19:35617832G>T	uc002nxx.2	-	6	1312	c.718C>A	c.(718-720)Ccc>Acc	p.P240T	LGI4_uc002nxy.1_Missense_Mutation_p.P68T|LGI4_uc002nxz.1_Missense_Mutation_p.P68T	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 4 (LGI4), mRNA.	240						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CCGGCGAAGGGCTGTGCCAGC	0.662000														261			20		4.96729e-08	9.92342e-07	0.00121646	1	0
FAM86C1	55199	broad.mit.edu	37	8	8092055	8092055	+	RNA	SNP	G	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr8:8092055G>A	uc011kwt.2	+	3		c.423G>A			FAM86C1_uc010lrq.2_Intron|FAM86C1_uc003wsf.4_Non-coding_Transcript			Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member A pseudogene (FLJ10661), transcript variant 1, non-coding RNA.											lung(1)	1						AGGCGCTGGCGGAGACCCTGA	0.582000														30			6		0	0	0.000274275	0	0
SDHA	6389	broad.mit.edu	37	5	236628	236628	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr5:236628C>T	uc011clv.1	+	9	1461	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	SDHA_uc003jao.4_Missense_Mutation_p.A449V|SDHA_uc011clw.2_Missense_Mutation_p.A401V|SDHA_uc003jaq.4_Missense_Mutation_p.A224V|SDHA_uc021xvu.1_Missense_Mutation_p.A224V	NM_004168	NP_004159	P31040	DHSA_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.	449					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GTACATGGTGCCAACCGCCTC	0.592000									Familial Paragangliomas					77			5		0	0	8.12818e-05	0	0
SFTPD	6441	broad.mit.edu	37	10	81702148	81702148	+	Silent	SNP	G	C	C	rs2077117		TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr10:81702148G>C	uc001kbh.3	-	3	472	c.429C>G	c.(427-429)ccC>ccG	p.P143P		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	143	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			ACCTACCTTTGGGCCCAGCTT	0.607000														28			20		0	0	0.00152264	0	0
SMARCB1	6598	broad.mit.edu	37	22	24145544	24145544	+	Missense_Mutation	SNP	C	T	T	rs137986695		TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr22:24145544C>T	uc002zyd.3	+	4	797	c.590C>T	c.(589-591)cCc>cTc	p.P197L	SMARCB1_uc002zya.3_Missense_Mutation_p.P188L|SMARCB1_uc002zyb.3_Missense_Mutation_p.P188L|SMARCB1_uc002zyc.3_Missense_Mutation_p.P179L|SMARCB1_uc002zye.1_Missense_Mutation_p.P114L|SMARCB1_uc002zyf.1_Non-coding_Transcript|SMARCB1_uc010gue.1_Non-coding_Transcript	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	188	2 X approximate tandem repeats.|HIV-1 integrase-binding.|MYC-binding.				DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(6)|p.D196fs*19(2)|p.P188L(1)|p.V185_M193del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GTGCTGGTCCCCATCCGGCTG	0.592000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid								84			10		0	0	0.000442599	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64084893	64084893	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr3:64084893A>G	uc003dmf.3	-	7	2955	c.2369T>C	c.(2368-2370)tTc>tCc	p.F790S		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	790						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TTCTCCTAGGAAATAGCCCTC	0.567000														37			32		0	0	0.00058488	0	0
ATP10A	57194	broad.mit.edu	37	15	25959142	25959142	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr15:25959142C>A	uc010ayu.3	-	9	2129	c.2023G>T	c.(2023-2025)Gac>Tac	p.D675Y		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	675					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCCAGTTGTCCGCCTGGCTG	0.692000														35			14		4.36969e-10	8.93024e-09	0.000151284	1	0
ESR1	2099	broad.mit.edu	37	6	152201893	152201893	+	Silent	SNP	A	G	G			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr6:152201893A>G	uc010kio.3	+	3	971	c.753A>G	c.(751-753)ggA>ggG	p.G251G	ESR1_uc003qom.4_Silent_p.G249G|ESR1_uc010kin.3_Silent_p.G249G|ESR1_uc010kip.3_Silent_p.G249G|ESR1_uc003qon.4_Silent_p.G249G|ESR1_uc010kir.3_Intron|ESR1_uc003qoo.4_Silent_p.G249G|ESR1_uc010kiq.3_Missense_Mutation_p.N6D|ESR1_uc021zgz.1_Intron|ESR1_uc011eeu.2_Non-coding_Transcript|ESR1_uc011eev.2_Intron|ESR1_uc011eew.2_Intron|ESR1_uc011eet.2_Intron|ESR1_uc010kis.3_Silent_p.G76G|ESR1_uc021zha.1_Intron|ESR1_uc011eex.2_Silent_p.G30G	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	249	Hinge.|Mediates interaction with DNTTIP2.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	ACGAAGTGGGAATGATGAAAG	0.547000														20			12		0	0	0.00136819	0	0
TTLL2	83887	broad.mit.edu	37	6	167755036	167755036	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr6:167755036G>T	uc003qvs.1	+	2	1736	c.1648G>T	c.(1648-1650)Gat>Tat	p.D550Y		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	550					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CAAAGCTCCAGATCCCCAAGC	0.502000														63			39		2.61675e-31	6.20345e-30	0.000680045	1	0
RBM45	129831	broad.mit.edu	37	2	178977555	178977555	+	Silent	SNP	C	T	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr2:178977555C>T	uc002ulv.3	+	0	374	c.282C>T	c.(280-282)aaC>aaT	p.N94N		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	Homo sapiens RNA binding motif protein 45 (RBM45), mRNA.	94	RRM 1.				cell differentiation|nervous system development	cytoplasm|nucleus	RNA binding|nucleotide binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TCGGCCCCAACGACACCAAGC	0.662000														44			7		0	0	8.12818e-05	0	0
WDR33	55339	broad.mit.edu	37	2	128526506	128526506	+	Splice_Site	SNP	C	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr2:128526506C>A	uc002tpg.2	-	3	472	c.273_splice	c.e3+1	p.D91_splice	WDR33_uc002tph.2_Splice_Site_p.D91_splice|WDR33_uc002tpi.2_Splice_Site_p.D91_splice	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	91					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CATGTACTTACATCATTGTAA	0.323000														58			35		5.44703e-19	1.2106e-17	0.000437636	1	0
ZNF423	23090	broad.mit.edu	37	16	49670868	49670868	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr16:49670868T>A	uc002efs.3	-	4	2493	c.2195A>T	c.(2194-2196)aAg>aTg	p.K732M	ZNF423_uc010vgn.2_Missense_Mutation_p.K615M	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	732					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GATGGACACCTTGGAGTCGAA	0.562000														40			6		0	0	0.00116845	0	0
TTF2	8458	broad.mit.edu	37	1	117633172	117633172	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr1:117633172A>T	uc001egy.3	+	14	2535	c.2515A>T	c.(2515-2517)Aaa>Taa	p.K839*		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	839					RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GCCCCAGCGTAAATTTCAGTT	0.368000														37			10		0	0	0.00136819	0	0
GFI1	2672	broad.mit.edu	37	1	92948601	92948601	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr1:92948601T>C	uc001dou.4	-	2	282	c.118A>G	c.(118-120)Agc>Ggc	p.S40G	GFI1_uc001dov.4_Missense_Mutation_p.S40G|GFI1_uc001dow.4_Missense_Mutation_p.S40G	NM_001127215	NP_005254	Q99684	GFI1_HUMAN	Homo sapiens growth factor independent 1 transcription repressor (GFI1), transcript variant 2, mRNA.	40					negative regulation of NF-kappaB transcription factor activity|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		TTTGAAGTGCTGTCTGCAAAG	0.667000														26			20		0	0	0.00121646	0	0
ZNF335	63925	broad.mit.edu	37	20	44579218	44579218	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr20:44579218T>C	uc002xqw.3	-	20	3329	c.3206A>G	c.(3205-3207)cAc>cGc	p.H1069R	ZNF335_uc002xqv.3_Missense_Mutation_p.H181R|ZNF335_uc010zxk.2_Missense_Mutation_p.H914R	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	1069					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H1069D(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TAGGCTTGAGTGCTGTGCCAT	0.592000														159			20		0	0	0.000295444	0	0
KIAA0090	23065	broad.mit.edu	37	1	19566346	19566346	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr1:19566346T>C	uc001bbo.3	-	7	963	c.920A>G	c.(919-921)tAt>tGt	p.Y307C	KIAA0090_uc001bbp.3_Missense_Mutation_p.Y307C|KIAA0090_uc001bbq.3_Missense_Mutation_p.Y307C|KIAA0090_uc001bbr.3_Missense_Mutation_p.Y285C	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	307						integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		CAGCGTTCCATAATGGTACTG	0.547000														40			22		0	0	0.000229342	0	0
LATS1	9113	broad.mit.edu	37	6	150005370	150005370	+	Silent	SNP	G	T	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr6:150005370G>T	uc003qmu.1	-	3	1403	c.855C>A	c.(853-855)atC>atA	p.I285I	LATS1_uc010kif.1_Silent_p.I180I|LATS1_uc003qmv.2_Silent_p.I285I|LATS1_uc003qmw.3_Silent_p.I285I|LATS1_uc010kig.1_Silent_p.I180I	NM_004690	NP_004681	O95835	LATS1_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 1 (Drosophila) (LATS1), mRNA.	285					G2/M transition of mitotic cell cycle|cell division|cytoplasmic sequestering of protein|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AGATTCGGGAGATTACGTATT	0.532000														84			69		5.00936e-31	1.17193e-29	0.000781405	1	0
ABCA4	24	broad.mit.edu	37	1	94506770	94506770	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr1:94506770T>A	uc001dqh.3	-	22	3621	c.3517A>T	c.(3517-3519)Agt>Tgt	p.S1173C		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1173					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCTACCTCACTGCCTTTCCTT	0.567000														34			14		0	0	0.000566183	0	0
MLL2	8085	broad.mit.edu	37	12	49437679	49437679	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr12:49437679A>G	uc001rta.4	-	21	5291	c.5291T>C	c.(5290-5292)cTg>cCg	p.L1764P		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1764					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			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						CATGTCCTCCAGTTTGCTCTT	0.567000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)	OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			34		0	0	0.000491102	0	0
NFKBIA	4792	broad.mit.edu	37	14	35872504	35872504	+	Silent	SNP	A	G	G			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr14:35872504A>G	uc001wtf.4	-	2	509	c.399T>C	c.(397-399)gcT>gcC	p.A133A		NM_020529	NP_065390	P25963	IKBA_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha (NFKBIA), mRNA.	133					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of NF-kappaB transcription factor activity|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of transcription from RNA polymerase II promoter|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	I-kappaB/NF-kappaB complex|cytosol|nucleus|plasma membrane	NF-kappaB binding|identical protein binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		GATCACAGCCAGCTCCCAGAA	0.562000														103			6		0	0	8.12818e-05	0	0
HSF5	124535	broad.mit.edu	37	17	56565509	56565509	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr17:56565509G>A	uc002iwi.1	-	0	251	c.127C>T	c.(127-129)Cag>Tag	p.Q43*		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	43						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGAGCGGCTGATCGATAAGC	0.726000														14			16		0	0	0.000566183	0	0
OR8U8	504189	broad.mit.edu	37	11	56143937	56143937	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr11:56143937G>C	uc001nit.2	+	0	838	c.838G>C	c.(838-840)Gtg>Ctg	p.V280L		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										CTTCTACACAGTGATCATTCC	0.413000														217			7		0	0	0.000442599	0	0
SEL1L3	23231	broad.mit.edu	37	4	25806261	25806261	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr4:25806261A>T	uc003gru.4	-	9	1830	c.1678T>A	c.(1678-1680)Ttt>Att	p.F560I	SEL1L3_uc003grv.3_5'UTR	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	560						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCCGTCAGAAAGGGGACGATA	0.433000														29			22		0	0	0.000229342	0	0
DAB2IP	153090	broad.mit.edu	37	9	124522288	124522288	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr9:124522288G>T	uc004bln.3	+	5	725	c.656G>T	c.(655-657)gGc>gTc	p.G219V	DAB2IP_uc004blo.3_Missense_Mutation_p.G123V	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	247	C2.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CGCACCACGGGCAAGCTCAAG	0.597000														46			17		4.75885e-15	1.00729e-13	0.000566183	1	0
LRP6	4040	broad.mit.edu	37	12	12302076	12302076	+	Silent	SNP	C	T	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr12:12302076C>T	uc001rah.4	-	13	3148	c.3006G>A	c.(3004-3006)gtG>gtA	p.V1002V	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Silent_p.V1002V	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1002	Beta-propeller 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AGCTCACAACCACAGTAAAGC	0.453000														126			98		0	0	0.000781405	0	0
NBPF10	100132406	broad.mit.edu	37	1	144823878	144823878	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr1:144823878A>C	uc009wig.1	+	15	2107	c.1913A>C	c.(1912-1914)tAt>tCt	p.Y638S	NBPF10_uc010oxo.1_Intron|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.Y441S|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.Y300S	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	640										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TATAGATGTTATTCAACTCCT	0.483000														24			4		0	0	0.00024832	0	0
C16orf53	79447	broad.mit.edu	37	16	29830999	29830999	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr16:29830999C>G	uc002dug.4	+	2	1008	c.689C>G	c.(688-690)tCg>tGg	p.S230W	BOLA2_uc010bzb.1_Intron|BC029255_uc002duh.1_Intron|MVP_uc010bzh.2_5'Flank|MVP_uc010vdz.2_5'Flank|MVP_uc002dui.3_5'Flank|MVP_uc002duj.3_5'Flank	NM_024516	NP_078792	Q9BTK6	PA1_HUMAN	Homo sapiens chromosome 16 open reading frame 53 (C16orf53), mRNA.	230										kidney(1)|lung(1)|prostate(1)	3						AGCCTGGACTCGGAGGACCCC	0.637000														75			19		0	0	0.00121646	0	0
KIF13A	63971	broad.mit.edu	37	6	17783900	17783900	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr6:17783900G>A	uc003ncg.4	-	28	3681	c.3521C>T	c.(3520-3522)cCa>cTa	p.P1174L	KIF13A_uc003ncf.3_Missense_Mutation_p.P1161L|KIF13A_uc003nch.4_Missense_Mutation_p.P1174L|KIF13A_uc003nci.4_Missense_Mutation_p.P1161L	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1174					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GAAGAGAACTGGTATGTGGGT	0.318000														3			3		0	0	0.00024832	0	0
RRN3P3	100131998	broad.mit.edu	37	16	22441236	22441236	+	RNA	SNP	G	A	A	rs114681793	by1000genomes	TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr16:22441236G>A	uc010vbu.1	-	4		c.1170C>T			RRN3P3_uc002dkp.2_Non-coding_Transcript					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 3 (RRN3P3), non-coding RNA.																		TGTTCCTCTCGATGATGGTGT	0.507000														67			7		0	0	8.12818e-05	0	0
TIAM1	7074	broad.mit.edu	37	21	32638551	32638551	+	Silent	SNP	G	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr21:32638551G>A	uc002yow.1	-	4	1210	c.738C>T	c.(736-738)aaC>aaT	p.N246N	TIAM1_uc011adk.1_Silent_p.N246N|TIAM1_uc011adl.1_Silent_p.N246N|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	246					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCGGCCCCCCGTTTGCTGTCA	0.537000														84			36		0	0	0.000814825	0	0
CDC5L	988	broad.mit.edu	37	6	44390390	44390390	+	Silent	SNP	T	C	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr6:44390390T>C	uc003oxl.3	+	9	1558	c.1248T>C	c.(1246-1248)ccT>ccC	p.P416P		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	416	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTAGGACTCCTTCTAATGGAG	0.408000														812			31		0	0	0.000814825	0	0
COQ4	51117	broad.mit.edu	37	9	131095814	131095814	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr9:131095814C>A	uc004bur.4	+	6	1035	c.688C>A	c.(688-690)Cca>Aca	p.P230T	COQ4_uc010mxy.3_Missense_Mutation_p.P206T	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN	Homo sapiens coenzyme Q4 homolog (S. cerevisiae) (COQ4), nuclear gene encoding mitochondrial protein, mRNA.	230				P -> H (in Ref. 2; AAD34087).	ubiquinone biosynthetic process	mitochondrial inner membrane				endometrium(4)|large_intestine(1)|lung(4)	9						GCGCAGAGCCCCATGTGTCCT	0.607000														56			37		6.97489e-18	1.53103e-16	0.000953801	1	0
TNPO1	3842	broad.mit.edu	37	5	72151675	72151675	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr5:72151675G>A	uc003kck.4	+	3	427	c.280G>A	c.(280-282)Ggt>Agt	p.G94S	TNPO1_uc011csi.1_Non-coding_Transcript|TNPO1_uc011csj.1_Intron|TNPO1_uc003kci.4_Missense_Mutation_p.G86S|TNPO1_uc003kcg.4_Missense_Mutation_p.G86S	NM_002270	NP_694858	Q92973	TNPO1_HUMAN	Homo sapiens transportin 1 (TNPO1), transcript variant 1, mRNA.	94	Importin N-terminal.				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CTTCCCAAATGGTGTAACAGA	0.328000														56			19		0	0	0.00074312	0	0
TTC17	55761	broad.mit.edu	37	11	43418965	43418965	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr11:43418965C>A	uc001mxi.3	+	6	912	c.842C>A	c.(841-843)gCt>gAt	p.A281D	TTC17_uc001mxh.3_Missense_Mutation_p.A281D|TTC17_uc010rfj.2_Missense_Mutation_p.A224D|TTC17_uc001mxj.3_Missense_Mutation_p.A51D	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	281							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TCTGCTGATGCTGCTGTCGTG	0.443000														117			103		5.50669e-55	1.32309e-53	0.000781405	1	0
DNM3	26052	broad.mit.edu	37	1	171810797	171810797	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr1:171810797A>C	uc001gie.3	+	0	177	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	DNM3_uc001gid.4_Missense_Mutation_p.M1L|DNM3_uc009wwb.2_Missense_Mutation_p.M1L|DNM3_uc001gif.3_Missense_Mutation_p.M1L	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	1					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTCGGGCAAGATGGGGAACCG	0.692000														13			8		0	0	0.000673444	0	0
CNKSR3	154043	broad.mit.edu	37	6	154521109	154521109	+	Silent	SNP	C	G	G			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr6:154521109C>G	uc021zhc.1	-	19	2491	c.1986G>C	c.(1984-1986)ctG>ctC	p.L662L	OPRM1_uc003qpt.1_Intron|CNKSR3_uc003qpv.3_Silent_p.L71L|CNKSR3_uc003qpw.3_Silent_p.L201L|CNKSR3_uc003qpx.3_Silent_p.L200L|CNKSR3_uc010kjh.3_Silent_p.L201L|CNKSR3_uc021zhd.1_Silent_p.L245L|CNKSR3_uc021zhe.1_Silent_p.L175L	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	342					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CTGTATTTTCCAGGGAAGAGA	0.418000														95			3		0	0	6.4e-05	0	0
ANK3	288	broad.mit.edu	37	10	61829643	61829643	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr10:61829643T>C	uc001jky.3	-	36	11334	c.10996A>G	c.(10996-10998)Act>Gct	p.T3666A	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3666					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTTCTACAGTGGTGTCCCCT	0.532000														33			26		0	0	0.000878237	0	0
ZFP64	55734	broad.mit.edu	37	20	50701575	50701575	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr20:50701575G>A	uc002xwk.3	-	8	1808	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W	ZFP64_uc002xwj.3_Missense_Mutation_p.R268W	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 4, mRNA.	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TGGTGCAGCCGGCTGTGCTCC	0.632000														90			35		0	0	0.00058488	0	0
GPR142	350383	broad.mit.edu	37	17	72368139	72368139	+	Silent	SNP	C	A	A	rs143074832	byFrequency	TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr17:72368139C>A	uc021ucp.1	+	3	789	c.780C>A	c.(778-780)ccC>ccA	p.P260P	GPR142_uc010wqy.2_Silent_p.P263P	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	263						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						TGTGCCACCCCCTGCACCATC	0.667000														34			7		0.000274275	0.00535891	0.000274275	1	0
NPL	80896	broad.mit.edu	37	1	182775301	182775301	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr1:182775301G>C	uc009wyb.3	+	4	592	c.164G>C	c.(163-165)gGc>gCc	p.G55A	NPL_uc010pnx.2_5'UTR|NPL_uc010pny.2_Non-coding_Transcript|NPL_uc001gpp.4_Missense_Mutation_p.G55A|NPL_uc021pfz.1_Missense_Mutation_p.G55A|NPL_uc009wyc.3_Missense_Mutation_p.G55A|NPL_uc001gpo.2_5'UTR	NM_030769	NP_110396	Q9BXD5	NPL_HUMAN	Homo sapiens N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) (NPL), transcript variant 1, mRNA.	55					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						ACAGGAGAAGGCCTGTCCCTG	0.532000														55			12		0	0	0.000978159	0	0
TPR	7175	broad.mit.edu	37	1	186324772	186324772	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr1:186324772T>A	uc001grv.3	-	15	2314	c.2017A>T	c.(2017-2019)Aaa>Taa	p.K673*	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	673					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTACCTGTTTAAGGGCAGCC	0.408000			T	NTRK1	papillary thyroid									114			8		0	0	0.000442599	0	0
LRRC8D	55144	broad.mit.edu	37	1	90399759	90399759	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr1:90399759T>A	uc021opq.1	+	0	1132	c.1132T>A	c.(1132-1134)Ttt>Att	p.F378I	LRRC8D_uc001dnm.3_Missense_Mutation_p.F378I|LRRC8D_uc001dnn.3_Missense_Mutation_p.F378I	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	378						integral to membrane	protein binding	p.F378C(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TGTTTATGGCTTTATCTGCCT	0.373000														79			44		0	0	0.000589545	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47251682	47251682	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr6:47251682T>C	uc003oyv.3	-	2	1668	c.1235A>G	c.(1234-1236)aAt>aGt	p.N412S		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	412					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ACCATGGCCATTGCAGTAGTA	0.512000														213			4		0	0	0.00024832	0	0
C1QTNF6	114904	broad.mit.edu	37	22	37578392	37578392	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr22:37578392C>T	uc003aqx.1	-	2	936	c.673G>A	c.(673-675)Gag>Aag	p.E225K	C1QTNF6_uc003aqw.1_Missense_Mutation_p.E206K|C1QTNF6_uc003aqy.1_Missense_Mutation_p.E225K|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.	206	C1q.					collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						ATGCTGCGCTCGCTGGGCTGC	0.577000														29			8		0	0	0.000442599	0	0
OR5T3	390154	broad.mit.edu	37	11	56019938	56019938	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr11:56019938C>T	uc010rjd.2	+	0	263	c.263C>T	c.(262-264)cCc>cTc	p.P88L		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					CTCCACAACCCCATGTATTAT	0.363000														64			26		0	0	0.000720815	0	0
C1QTNF5	114902	broad.mit.edu	37	11	119210071	119210071	+	Silent	SNP	G	C	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr11:119210071G>C	uc001pwj.2	-	14	3498	c.702C>G	c.(700-702)tcC>tcG	p.S234S		NM_015645	NP_056460	Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	0	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TGTGCCAGTCGGAGTACACCA	0.552000														42			21		0	0	0.000229342	0	0
DBR1	51163	broad.mit.edu	37	3	137892448	137892448	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr3:137892448T>C	uc003erv.3	-	1	372	c.218A>G	c.(217-219)aAg>aGg	p.K73R	DBR1_uc003eru.3_Missense_Mutation_p.K22R	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	73						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AACTGGAGCCTTTTTCTCTCC	0.398000														141			4		0	0	0.00024832	0	0
CNOT2	4848	broad.mit.edu	37	12	70704758	70704758	+	Silent	SNP	C	T	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr12:70704758C>T	uc001svv.3	+	2	714	c.132C>T	c.(130-132)taC>taT	p.Y44Y	CNOT2_uc009zro.3_Silent_p.Y44Y|CNOT2_uc009zrp.3_Silent_p.Y24Y|CNOT2_uc009zrq.3_Silent_p.Y44Y	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.	44					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	RNA polymerase II transcription cofactor activity|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ACATGTACTACAGCCAGTCTT	0.378000														53			18		0	0	0.000958276	0	0
FGF1	2246	broad.mit.edu	37	5	141974869	141974869	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr5:141974869C>A	uc003lmm.3	-	3	534	c.454G>T	c.(454-456)Gtc>Ttc	p.V152F	FGF1_uc011dbi.2_3'UTR|FGF1_uc003lmn.4_Missense_Mutation_p.V152F|FGF1_uc003lmp.4_3'UTR|FGF1_uc003lmq.3_Missense_Mutation_p.V152F|FGF1_uc010jgj.3_Missense_Mutation_p.V151F|FGF1_uc003lmr.3_Missense_Mutation_p.V152F|FGF1_uc003lms.4_Missense_Mutation_p.V152F|FGF1_uc021yew.1_3'UTR	NM_001144892	NP_001138407	P05230	FGF1_HUMAN	Homo sapiens fibroblast growth factor 1 (acidic) (FGF1), transcript variant 4, mRNA.	152					angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	S100 alpha binding|fibroblast growth factor receptor binding|growth factor activity|heparin binding			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)	TCAGAAGAGACTGGCAGGGGG	0.493000														46			30		3.11337e-16	6.66937e-15	0.000491102	1	0
ADD3	120	broad.mit.edu	37	10	111878343	111878343	+	Splice_Site	SNP	A	G	G			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr10:111878343A>G	uc001kyu.3	+	6	724	c.568_splice	c.e6-2	p.V190_splice	ADD3_uc001kyt.4_Splice_Site_p.V190_splice|ADD3_uc001kys.4_Splice_Site_p.V190_splice|ADD3_uc001kyv.3_Splice_Site_p.V190_splice|ADD3_uc001kyw.3_Splice_Site_p.V190_splice	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	Homo sapiens adducin 3 (gamma) (ADD3), transcript variant 1, mRNA.	190						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GATTTTTTCCAGGTGAAAGTC	0.378000														38			29		0	0	0.000339439	0	0
ACSL1	2180	broad.mit.edu	37	4	185724472	185724472	+	Splice_Site	SNP	A	T	T			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr4:185724472A>T	uc003iww.2	-	2	489	c.195_splice	c.e2+1	p.A65_splice	ACSL1_uc011ckm.1_Splice_Site|ACSL1_uc003iwt.1_Splice_Site_p.A65_splice|ACSL1_uc003iwu.1_Splice_Site_p.A65_splice|ACSL1_uc011ckn.1_Splice_Site_p.A65_splice	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	65					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCCTCCACTCACCGCCACTTC	0.547000														4			7		0	0	0.000157383	0	0
EPSTI1	94240	broad.mit.edu	37	13	43462629	43462629	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr13:43462629C>A	uc001uyw.1	-	12	1066	c.990G>T	c.(988-990)gaG>gaT	p.E330D	EPSTI1_uc001uyx.1_3'UTR	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN	Homo sapiens epithelial stromal interaction 1 (breast) (EPSTI1), transcript variant 1, mRNA.	0										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TCAATATTTTCTCATATACCC	0.358000														70			42		1.22102e-19	2.74806e-18	0.000781405	1	0
ABCC12	94160	broad.mit.edu	37	16	48180262	48180262	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr16:48180262T>C	uc002efc.1	-	0	420	c.74A>G	c.(73-75)tAt>tGt	p.Y25C	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Missense_Mutation_p.Y25C|ABCC12_uc010vgj.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	25						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCTGGGGTCATATCTTTCTGC	0.587000														127			4		0	0	0.000602214	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709825	31709825	+	Silent	SNP	G	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr21:31709825G>A	uc002ynx.1	-	0	188	c.162C>T	c.(160-162)tgC>tgT	p.C54C		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	Homo sapiens keratin associated protein 27-1 (KRTAP27-1), mRNA.	54						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TGGTTTCATTGCAGGTTTCTT	0.448000														85			43		0	0	0.000589545	0	0
MESDC2	23184	broad.mit.edu	37	15	81282037	81282037	+	Silent	SNP	G	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr15:81282037G>A	uc002bfy.1	-	0	169	c.96C>T	c.(94-96)tgC>tgT	p.C32C	MESDC2_uc002bfx.3_Non-coding_Transcript|MESDC2_uc010uno.2_Non-coding_Transcript	NM_015154	NP_055969	Q14696	MESD_HUMAN	Homo sapiens mesoderm development candidate 2 (MESDC2), mRNA.	32	Chaperone domain (By similarity).				Wnt receptor signaling pathway|mesoderm development|protein folding	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						CTTCGGCCGCGCAGGACCCAG	0.637000														31			28		0	0	0.00127121	0	0
BCL2L11	10018	broad.mit.edu	37	2	111921708	111921716	+	Splice_Site	DEL	AGGTATTTT	-	-	rs142125092		TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr2:111921708_111921716delAGGTATTTT	uc002tgv.1	+	4	787	c.499_splice	c.e4-1	p.V167_splice	BCL2L11_uc002tgu.1_Splice_Site_p.V107_splice|BCL2L11_uc002tgy.2_Splice_Site|BCL2L11_uc002thb.2_Splice_Site|BCL2L11_uc002tgx.2_Splice_Site|BCL2L11_uc021vmp.1_Splice_Site|BCL2L11_uc010fkd.2_Splice_Site|BCL2L11_uc002tgz.2_Splice_Site_p.V77_splice|BCL2L11_uc002thd.2_Splice_Site_p.G72_splice|BCL2L11_uc002tha.2_Splice_Site_p.G132_splice|BCL2L11_uc010fke.2_Splice_Site_p.G42_splice|BCL2L11_uc021vmq.1_Splice_Site|BCL2L11_uc002thc.2_Splice_Site|BCL2L11_uc021vmr.1_Splice_Site|BCL2L11_uc002tgw.2_Splice_Site|BCL2L11_uc021vms.1_Splice_Site	NM_138621	NP_619527	O43521	B2L11_HUMAN	Homo sapiens BCL2-like 11 (apoptosis facilitator) (BCL2L11), transcript variant 1, mRNA.	167					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						TTGTTGTTTCAGGTATTTTTGAATAATTA	0.445													---	45	---	---	13	---					
TRIP12	9320	broad.mit.edu	37	2	230701700	230701702	+	Splice_Site	DEL	ACT	-	-			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr2:230701700_230701702delACT	uc002vpx.1	-	6	1243	c.1134_splice	c.e6-1	p.S378_splice	TRIP12_uc021vxw.1_Splice_Site_p.S336_splice|TRIP12_uc002vpy.1_Splice_Site_p.S33_splice|TRIP12_uc002vpw.1_Splice_Site_p.S336_splice|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Splice_Site_p.S336_splice	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	336					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGCCTCGCCGACTACAACAGAAA	0.483													---	24	---	---	23	---					
STOX2	56977	broad.mit.edu	37	4	184931856	184931856	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr4:184931856delA	uc003ivz.1	+	2	3300	c.1865delA	c.(1864-1866)gagfs	p.E622fs	STOX2_uc003iwa.1_Frame_Shift_Del_p.E311fs	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	622					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AAGAATAAGGAGGACCATGAC	0.532													---	65	---	---	8	---					
RAPGEF6	51735	broad.mit.edu	37	5	131007378	131007379	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr5:131007378_131007379delCT	uc003kvs.1	-	13	2900_2901	c.2758_2759delAG	c.(2758-2760)agtfs	p.S920fs	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Frame_Shift_Del_p.S892fs|RAPGEF6_uc010jdm.1_Frame_Shift_Del_p.S875fs	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0	Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTTATCTGAACTCTCTTTATCC	0.416													---	84	---	---	61	---					
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	-	-			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr6:41168714_41168716delCAG	uc010jxm.1	-	0	210_212	c.31_33delCTG	c.(31-33)ctgdel	p.L11del		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	11					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631													---	381	---	---	8	---					
UBR2	23304	broad.mit.edu	37	6	42611951	42611951	+	Splice_Site	DEL	G	-	-	rs112519289		TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr6:42611951delG	uc011dur.2	+	19	2396	c.2098_splice	c.e19-1	p.T700_splice	UBR2_uc011dus.2_Splice_Site_p.T345_splice|UBR2_uc010jxv.1_Splice_Site_p.T204_splice|UBR2_uc003osh.3_Splice_Site	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	700					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AAAAAAAAAAGACAGGTGTCT	0.373													---	1153	---	---	9	---					
AUTS2	26053	broad.mit.edu	37	7	70255838	70255838	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr7:70255838delT	uc003tvw.4	+	18	4371	c.3636delT	c.(3634-3636)cctfs	p.P1212fs	AUTS2_uc003tvx.4_Frame_Shift_Del_p.P1188fs|AUTS2_uc011keg.2_Frame_Shift_Del_p.P664fs	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	1212										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACAAGACCCCTCCGACAGCAG	0.677													---	32	---	---	13	---					
CUX1	1523	broad.mit.edu	37	7	101892133	101892135	+	In_Frame_Del	DEL	CAG	-	-			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr7:101892133_101892135delCAG	uc003uys.4	+	23	4489_4491	c.4362_4364delCAG	c.(4360-4365)aacagc>aac	p.S1459del	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_In_Frame_Del_p.S1448del	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1448					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CGCCCAGCAACAGCAGCAGCAGC	0.823													---	4	---	---	2	---					
CLTA	1211	broad.mit.edu	37	9	36211662	36211662	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr9:36211662delG	uc003zzc.3	+	6	839	c.638delG	c.(637-639)cggfs	p.R213fs	CLTA_uc022bgo.1_3'UTR|CLTA_uc022bgp.1_Frame_Shift_Del_p.R131fs|CLTA_uc011lpk.2_Frame_Shift_Del_p.R195fs|CLTA_uc003zzd.3_Frame_Shift_Del_p.R201fs|CLTA_uc003zze.3_Frame_Shift_Del_p.R183fs	NM_007096	NP_009027	P09496	CLCA_HUMAN	Homo sapiens clathrin, light chain A (CLTA), transcript variant 2, mRNA.	213					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol	structural molecule activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			GAGTGGGAACGGGTGGCCCGG	0.542													---	70	---	---	41	---					
KCTD4	386618	broad.mit.edu	37	13	45768267	45768269	+	In_Frame_Del	DEL	TTA	-	-			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr13:45768267_45768269delTTA	uc001uzx.4	-	1	838_840	c.434_436delTAA	c.(433-438)ataaca>aca	p.I145del	GTF2F2_uc001uzw.3_Intron|KCTD4_uc021rjf.1_In_Frame_Del_p.I145del	NM_198404	NP_940686	Q8WVF5	KCTD4_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 4 (KCTD4), mRNA.	145						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TGGTTATCTGTTATTTCCAAGAA	0.414													---	150	---	---	15	---					
ENTPD5	957	broad.mit.edu	37	14	74443764	74443765	+	Splice_Site	INS	-	A	A			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr14:74443764_74443765insA	uc010tuo.2	-	8	829	c.518_splice	c.e8-1	p.G173_splice	ENTPD5_uc001xpi.3_Splice_Site_p.G173_splice	NM_001249	NP_001240	O75356	ENTP5_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 5 (ENTPD5), mRNA.	173					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		CTAATATGCCTAAAAAGAAAGA	0.366													---	64	---	---	38	---					
PLA2G4F	255189	broad.mit.edu	37	15	42444915	42444915	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr15:42444915delC	uc001zoz.3	-	6	664	c.572delG	c.(571-573)ggafs	p.G191fs	PLA2G4F_uc001zpa.3_5'UTR|PLA2G4F_uc010bcr.3_5'UTR|PLA2G4F_uc010bcs.3_5'UTR	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	191					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TGTCCCATCTCCCCGGAGCGT	0.622													---	4	---	---	2	---					
C16orf88	400506	broad.mit.edu	37	16	19725706	19725706	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr16:19725706delT	uc002dgq.3	-	1	667	c.652delA	c.(652-654)atcfs	p.I218fs	IQCK_uc002dgr.3_5'Flank|IQCK_uc002dgs.3_5'Flank	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	Homo sapiens chromosome 16 open reading frame 88 (C16orf88), mRNA.	218	Lys-rich.					nucleolus		p.I218fs*41(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	13						TCCTGGTGGATTTTTTTTTTC	0.532													---	122	---	---	7	---					
SERPINB11	89778	broad.mit.edu	37	18	61379816	61379816	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr18:61379816delA	uc002ljk.4	+	3	417	c.246delA	c.(244-246)agafs	p.R82fs	SERPINB11_uc010xes.2_5'UTR|SERPINB11_uc010dqd.3_5'UTR|SERPINB11_uc002ljj.4_5'UTR|SERPINB11_uc010dqe.3_5'UTR|SERPINB11_uc010dqf.3_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	82					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				AAGCTGGAAGAATTCATTCCG	0.423													---	77	---	---	50	---					
KANK3	256949	broad.mit.edu	37	19	8398950	8398961	+	In_Frame_Del	DEL	TCGCTGTCGCCA	-	-	rs111751275		TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr19:8398950_8398961delTCGCTGTCGCCA	uc010dwa.3	-	4	1533_1544	c.1467_1478delTGGCGACAGCGA	c.(1465-1479)gatggcgacagcgag>gag	p.DGDS489del	KANK3_uc002mjp.1_In_Frame_Del_p.MATA1del	NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.	489								p.D489_S492delDGDS(4)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC	0.717													---	4	---	---	2	---					
MKL1	57591	broad.mit.edu	37	22	40816560	40816562	+	In_Frame_Del	DEL	CCC	-	-			TCGA-BQ-7048-01A-11D-1961-08	TCGA-BQ-7048-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ee5ae28-9eb8-4f46-b9d9-13c5246297eb	71fbff51-4f0d-4d4f-8083-f64c0ac772b8	g.chr22:40816560_40816562delCCC	uc003ayv.1	-	7	1107_1109	c.900_902delGGG	c.(898-903)ctggga>cta	p.G301del	MKL1_uc010gyf.1_In_Frame_Del_p.G251del|MKL1_uc003ayw.1_In_Frame_Del_p.G301del|MKL1_uc010gye.1_In_Frame_Del_p.G301del	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	301					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CCCGCTGCTTCCCAGGGCCTCGC	0.665			T	RBM15	acute megakaryocytic leukemia								---	58	---	---	39	---					
