Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
HCFC2	29915	broad.mit.edu	37	12	104492210	104492210	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:104492210G>T	ENST00000229330.4	+	13	1934	c.1830G>T	c.(1828-1830)ttG>ttT	p.L610F	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	610	Fibronectin type-III 2.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATACAGCTTTGGTGAGCCAGT	0.378000													30	42					3.73988e-18	4.32021e-18	0.030593	1	0
ZFP30	22835	broad.mit.edu	37	19	38127001	38127001	+	Silent	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:38127001C>G	ENST00000351218.2	-	6	998	c.441G>C	c.(439-441)ctG>ctC	p.L147L	ZFP30_ENST00000392144.1_Silent_p.L147L|ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Silent_p.L147L	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTCTGATACAGAGGAAGAG	0.393000													22	150					0	0	0.062417	0	0
LRRC37A16P	651250	broad.mit.edu	37	17	66126548	66126548	+	RNA	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:66126548G>A	ENST00000590019.1	-	0	298																											CTACCACAGGGCTGGGCAGAA	0.488000													6	32					0	0	0.029380	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999984	46999984	+	Silent	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr10:46999984G>T	ENST00000374314.4	+	1	2059	c.1104G>T	c.(1102-1104)ctG>ctT	p.L368L	GPRIN2_ENST00000374317.1_Silent_p.L368L			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	368										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGGTAACTCTGGGGTCCAGCC	0.672000													10	85					7.48243e-07	7.99983e-07	0.058154	1	0
ABCC11	85320	broad.mit.edu	37	16	48250115	48250115	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr16:48250115C>T	ENST00000394747.1	-	6	1210	c.861G>A	c.(859-861)tcG>tcA	p.S287S	ABCC11_ENST00000537808.1_Silent_p.S287S|ABCC11_ENST00000394748.1_Silent_p.S287S|ABCC11_ENST00000356608.2_Silent_p.S287S|ABCC11_ENST00000353782.5_Silent_p.S287S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	287	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AGATGACCAGCGATGCGCAGG	0.468000													27	114					0	0	0.030593	0	0
MECOM	2122	broad.mit.edu	37	3	168838896	168838896	+	Silent	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:168838896C>A	ENST00000464456.1	-	6	1716	c.516G>T	c.(514-516)tcG>tcT	p.S172S	MECOM_ENST00000460814.1_Silent_p.S172S|MECOM_ENST00000468789.1_Silent_p.S172S|MECOM_ENST00000472280.1_Silent_p.S173S|MECOM_ENST00000264674.3_Silent_p.S237S|MECOM_ENST00000433243.2_Silent_p.S173S|MECOM_ENST00000392736.3_Silent_p.S172S|MECOM_ENST00000494292.1_Silent_p.S360S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGAGGCCCGACGAAGTGGCAA	0.552000													19	39					5.03518e-11	5.59156e-11	0.043863	1	0
PKDREJ	10343	broad.mit.edu	37	22	46654890	46654890	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr22:46654890T>C	ENST00000253255.5	-	1	4329	c.4330A>G	c.(4330-4332)Ata>Gta	p.I1444V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1444					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAAAAAGTTATTAATAATTGC	0.378000													17	55					0	0	0.033300	0	0
TUBA3C	7278	broad.mit.edu	37	13	19755884	19755884	+	Splice_Site	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr13:19755884C>T	ENST00000400113.3	-	1	108		c.e1+1			NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c						'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCTGGCCTTACCATGTTGAGC	0.672000													17	11					0	0	0.033300	0	0
NUMB	8650	broad.mit.edu	37	14	73749071	73749071	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr14:73749071G>T	ENST00000556772.1	-	5	2947	c.660C>A	c.(658-660)ttC>ttA	p.F220L	NUMB_ENST00000359560.3_Missense_Mutation_p.F353L|NUMB_ENST00000560335.1_Missense_Mutation_p.F266L|NUMB_ENST00000355058.3_Missense_Mutation_p.F364L|NUMB_ENST00000454166.4_Missense_Mutation_p.F266L|NUMB_ENST00000557597.1_Missense_Mutation_p.F353L|NUMB_ENST00000555238.1_Missense_Mutation_p.F364L|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000554546.1_Missense_Mutation_p.F353L|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000535282.1_Missense_Mutation_p.F353L|NUMB_ENST00000555738.2_Missense_Mutation_p.F255L|NUMB_ENST00000356296.4_Missense_Mutation_p.F364L|NUMB_ENST00000555394.1_Missense_Mutation_p.F364L			P49757	NUMB_HUMAN	numb homolog (Drosophila)	364					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		accaaccttggaaggtaggag	0.512000													7	30					5.18039e-06	5.50931e-06	0.038147	1	0
OR10R2	343406	broad.mit.edu	37	1	158450008	158450008	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:158450008T>C	ENST00000368152.1	+	1	341	c.341T>C	c.(340-342)tTc>tCc	p.F114S	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					ACAATCTCCTTCAACTGTTGT	0.438000													140	117					0	0	0.048971	0	0
TSTA3	7264	broad.mit.edu	37	8	144697068	144697068	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr8:144697068C>A	ENST00000425753.2	-	4	382	c.279G>T	c.(277-279)atG>atT	p.M93I	TSTA3_ENST00000529064.1_Missense_Mutation_p.M93I	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	93					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	CGTTGTCGTTCATGTGCACGT	0.607000													21	62					5.45024e-15	6.25999e-15	0.018920	1	0
SLC13A1	6561	broad.mit.edu	37	7	122808429	122808429	+	Splice_Site	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:122808429T>A	ENST00000194130.2	-	6	698	c.660_splice	c.e6+1	p.K220_splice	SLC13A1_ENST00000539873.1_Splice_Site_p.K156_splice	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	220						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TTTATGTACCTTTTCCAACTC	0.254000													11	9					0	0	0.020292	0	0
NUAK1	9891	broad.mit.edu	37	12	106461007	106461007	+	Missense_Mutation	SNP	C	C	T	rs117517173	byFrequency	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:106461007C>T	ENST00000261402.2	-	7	2938	c.1559G>A	c.(1558-1560)cGg>cAg	p.R520Q		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	520							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GCCCTTCCTCCGGCAGGAGAG	0.607000													4	96					0	0	0.021553	0	0
EP300	2033	broad.mit.edu	37	22	41566521	41566521	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr22:41566521G>C	ENST00000263253.7	+	27	5617	c.4398G>C	c.(4396-4398)tgG>tgC	p.W1466C	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1466					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGCAGGAATGGTACAAAAAAA	0.473000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				30	50					0	0	0.034045	0	0
USH2A	7399	broad.mit.edu	37	1	216348641	216348641	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:216348641T>C	ENST00000366943.2	-	21	4966	c.4580A>G	c.(4579-4581)tAt>tGt	p.Y1527C	USH2A_ENST00000307340.3_Missense_Mutation_p.Y1527C|USH2A_ENST00000366942.3_Missense_Mutation_p.Y1527C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1527	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAATTTACAATACCCATTTCC	0.423000										HNSCC(13;0.011)			10	55					0	0	0.069234	0	0
SNX20	124460	broad.mit.edu	37	16	50709754	50709754	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr16:50709754C>A	ENST00000300590.3	-	3	381	c.209G>T	c.(208-210)cGc>cTc	p.R70L	SNX20_ENST00000330943.4_Missense_Mutation_p.R70L|SNX20_ENST00000423026.2_Missense_Mutation_p.R70L	NM_153337.2	NP_699168.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	70					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GTGCTTCCAGCGGCATTTCTG	0.522000													12	57					0.000978159	0.00100826	0.010729	1	0
FLT1	2321	broad.mit.edu	37	13	28896990	28896990	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr13:28896990C>T	ENST00000282397.4	-	21	3141	c.2890G>A	c.(2890-2892)Gaa>Aaa	p.E964K	FLT1_ENST00000540678.1_Missense_Mutation_p.E182K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	964	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCAAAGCTTTCGCTGCTGGTG	0.478000													4	109					0	0	0.009096	0	0
ERN1	2081	broad.mit.edu	37	17	62126509	62126509	+	Silent	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:62126509A>T	ENST00000433197.2	-	18	2402	c.2307T>A	c.(2305-2307)tcT>tcA	p.S769S		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	769	Protein kinase.		S -> F (in a glioblastoma multiforme sample; somatic mutation).		activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GGCTGCCCTCAGAGATTACGT	0.557000													18	23					0	0	0.055883	0	0
WDR7	23335	broad.mit.edu	37	18	54385258	54385258	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr18:54385258C>T	ENST00000254442.3	+	13	1853	c.1642C>T	c.(1642-1644)Cga>Tga	p.R548*	WDR7_ENST00000357574.3_Nonsense_Mutation_p.R548*|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	548										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TCTAAGTTTGCGAGAGAAAAA	0.408000													21	35					0	0	0.062417	0	0
FBXO44	93611	broad.mit.edu	37	1	11718615	11718615	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:11718615G>A	ENST00000376770.1	+	5	916	c.418G>A	c.(418-420)Gac>Aac	p.D140N	FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000376768.1_Missense_Mutation_p.G130E|FBXO44_ENST00000251547.5_Missense_Mutation_p.D140N	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	140	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGTGGTGGACCTCAAGGC	0.662000													24	5					0	0	0.018920	0	0
FREM2	341640	broad.mit.edu	37	13	39266020	39266020	+	Silent	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr13:39266020T>C	ENST00000280481.7	+	1	4755	c.4539T>C	c.(4537-4539)gaT>gaC	p.D1513D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1513					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AAGTCACCGATGGACGTAACC	0.453000													18	57					0	0	0.033300	0	0
OR6K2	81448	broad.mit.edu	37	1	158669969	158669969	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:158669969C>G	ENST00000359610.2	-	1	517	c.474G>C	c.(472-474)gaG>gaC	p.E158D		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TCCAGGCAATCTCAGGAAGGG	0.483000													11	45					0	0	0.010729	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	25					0	0	0.024245	0	0
MTCP1	4515	broad.mit.edu	37	X	154294265	154294265	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chrX:154294265C>T	ENST00000369476.3	-	2	600	c.21G>A	c.(19-21)ggG>ggA	p.G7G	CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000482244.1_Intron|MTCP1_ENST00000362018.2_Silent_p.G7G	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	7					cell proliferation					large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGGTGGAGCCCCCACATCCT	0.572000			T	TRA@	T cell prolymphocytic leukemia								11	16					0	0	0.069234	0	0
ASAP2	8853	broad.mit.edu	37	2	9528612	9528612	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:9528612G>C	ENST00000281419.3	+	22	2660	c.2320G>C	c.(2320-2322)Gcc>Ccc	p.A774P	ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Missense_Mutation_p.A774P	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	774	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CCCACCTCCCGCCCAGCCTGC	0.587000													4	23					0	0	0.047766	0	0
RAD50	10111	broad.mit.edu	37	5	131915147	131915147	+	Silent	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr5:131915147A>G	ENST00000378823.3	+	4	905	c.87A>G	c.(85-87)gaA>gaG	p.E29E	RAD50_ENST00000265335.6_Silent_p.E168E	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	168					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTTAAGTGAAGGAAAGGCTT	0.348000								Homologous recombination					44	11					0	0	0.042209	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	27					0	0	0.009096	0	0
UBXN2B	137886	broad.mit.edu	37	8	59352288	59352288	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr8:59352288G>A	ENST00000399598.2	+	6	752	c.630G>A	c.(628-630)ttG>ttA	p.L210L		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	210						cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						AACCTAGATTGAGGTTCAAGG	0.378000													6	65					0	0	0.021553	0	0
FSTL5	56884	broad.mit.edu	37	4	162307172	162307172	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:162307172G>A	ENST00000306100.5	-	16	2707	c.2271C>T	c.(2269-2271)taC>taT	p.Y757Y	FSTL5_ENST00000536695.1_Silent_p.Y756Y|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Silent_p.Y756Y|FSTL5_ENST00000427802.2_Silent_p.Y747Y	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	757						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTGAACTACCGTAGATGTTAT	0.418000													4	69					0	0	0.009096	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565249	58565249	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:58565249C>T	ENST00000282326.1	+	6	1304	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	353					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GAAAGCCCCCCGGAGCAAGGG	0.662000													27	11					0	0	0.030593	0	0
PLCZ1	89869	broad.mit.edu	37	12	18872484	18872484	+	Silent	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:18872484A>G	ENST00000266505.7	-	5	713	c.450T>C	c.(448-450)tgT>tgC	p.C150C	PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000541695.1_Silent_p.C13C|PLCZ1_ENST00000447925.2_Silent_p.C148C|RP11-361I14.2_ENST00000536931.1_RNA			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	150					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AAACTTTTCTACATTCATTTT	0.279000													3	17					0	0	0.004672	0	0
PTPRO	5800	broad.mit.edu	37	12	15669884	15669884	+	Silent	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:15669884A>T	ENST00000281171.4	+	9	2103	c.1773A>T	c.(1771-1773)gcA>gcT	p.A591A	PTPRO_ENST00000543886.1_Silent_p.A591A|PTPRO_ENST00000348962.2_Silent_p.A591A	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	591	Fibronectin type-III 6.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CCTTAACTGCATCCGTGGTAA	0.373000													59	82					0	0	0.048971	0	0
SH3BGRL2	83699	broad.mit.edu	37	6	80406206	80406206	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:80406206A>T	ENST00000369838.4	+	3	415	c.236A>T	c.(235-237)tAt>tTt	p.Y79F		NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamic acid-rich protein like 2	79						nucleus	SH3 domain binding			large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		TTCTAGGATTATGACAGTTTT	0.308000													42	19					0	0	0.033182	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													5	79					0	0	0.029380	0	0
PROM2	150696	broad.mit.edu	37	2	95947688	95947688	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:95947688G>A	ENST00000317620.9	+	13	1700	c.1567G>A	c.(1567-1569)Ggg>Agg	p.G523R	PROM2_ENST00000542147.1_Missense_Mutation_p.G523R|PROM2_ENST00000403131.2_Missense_Mutation_p.G523R|PROM2_ENST00000317668.4_Missense_Mutation_p.G523R	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	523						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AGACACCCCAGGGAACCTGCC	0.627000													19	39					0	0	0.055883	0	0
GPR152	390212	broad.mit.edu	37	11	67219165	67219165	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:67219165G>A	ENST00000312457.2	-	1	1035	c.1031C>T	c.(1030-1032)cCg>cTg	p.P344L		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	344						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P344L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CTCTGCCATCGGCTCTGGCAG	0.637000													12	31					0	0	0.010729	0	0
RIMBP2	23504	broad.mit.edu	37	12	130898786	130898786	+	Missense_Mutation	SNP	C	C	T	rs138034003		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:130898786C>T	ENST00000261655.4	-	14	2699	c.2536G>A	c.(2536-2538)Gaa>Aaa	p.E846K		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	846						cell junction|synapse		p.E846K(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGGAGCTCTTCGGCACCAGGG	0.567000													29	57					0	0	0.041601	0	0
ZNF276	92822	broad.mit.edu	37	16	89789220	89789220	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr16:89789220G>A	ENST00000289816.5	+	2	574	c.262G>A	c.(262-264)Ggt>Agt	p.G88S	ZNF276_ENST00000443381.2_Missense_Mutation_p.G163S|ZNF276_ENST00000446326.2_5'UTR|ZNF276_ENST00000568064.1_Missense_Mutation_p.G88S	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	163	ZAD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCCCCGGCTGGTCGCCGGAA	0.592000													7	45					0	0	0.010729	0	0
THAP5	168451	broad.mit.edu	37	7	108205290	108205290	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:108205290G>C	ENST00000415914.3	-	3	686	c.533C>G	c.(532-534)tCt>tGt	p.S178C	THAP5_ENST00000313516.5_Missense_Mutation_p.S136C|THAP5_ENST00000438865.1_3'UTR|THAP5_ENST00000493722.1_5'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	178					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						TTCCAAGGTAGATTCTGGTTT	0.348000													6	24					0	0	0.029380	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													5	35					0	0	0.014758	0	0
SSFA2	6744	broad.mit.edu	37	2	182783567	182783567	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:182783567G>A	ENST00000431877.2	+	13	3130	c.2951G>A	c.(2950-2952)cGt>cAt	p.R984H	SSFA2_ENST00000320370.7_Missense_Mutation_p.R984H|SSFA2_ENST00000409001.1_Missense_Mutation_p.R984H|SSFA2_ENST00000428267.2_Missense_Mutation_p.R831H|SSFA2_ENST00000409136.1_Missense_Mutation_p.R493H	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	984						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GCAATGCTGCGTCAGCAAACC	0.383000													19	64					0	0	0.062417	0	0
PPP1R26	9858	broad.mit.edu	37	9	138376561	138376561	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:138376561G>A	ENST00000356818.2	+	4	754	c.205G>A	c.(205-207)Gca>Aca	p.A69T	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.A69T|PPP1R26_ENST00000605286.1_Missense_Mutation_p.A69T|PPP1R26_ENST00000604351.1_Missense_Mutation_p.A69T|PPP1R26_ENST00000401470.3_Missense_Mutation_p.A69T	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	69						nucleolus	protein binding										TGAGCGCGCCGCACAGAGGGG	0.706000													50	48					0	0	0.048971	0	0
EFTUD2	9343	broad.mit.edu	37	17	42940103	42940103	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:42940103G>A	ENST00000426333.2	-	16	1882	c.1585C>T	c.(1585-1587)Cgc>Tgc	p.R529C	EFTUD2_ENST00000402521.3_Missense_Mutation_p.R494C|EFTUD2_ENST00000592576.1_Missense_Mutation_p.R519C|EFTUD2_ENST00000591382.1_Missense_Mutation_p.R529C	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	529						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				ATCCAAAGGCGGCCCACGGTG	0.597000													3	24					0	0	0.004672	0	0
PRSS48	345062	broad.mit.edu	37	4	152212572	152212572	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:152212572G>C	ENST00000455694.2	+	5	956	c.954G>C	c.(952-954)gaG>gaC	p.E318D	PRSS48_ENST00000441586.2_Missense_Mutation_p.E175D|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	318					proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GCTGGGAAGAGAATGCATGGA	0.473000													16	6					0	0	0.033300	0	0
OPRD1	4985	broad.mit.edu	37	1	29185555	29185555	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:29185555G>A	ENST00000234961.2	+	2	559	c.317G>A	c.(316-318)aGt>aAt	p.S106N		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	106					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CCTTTCCAGAGTGCCAAGTAC	0.537000													52	20					0	0	0.048971	0	0
ZMAT1	84460	broad.mit.edu	37	X	101139651	101139651	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chrX:101139651A>T	ENST00000372782.3	-	7	795	c.748T>A	c.(748-750)Ttg>Atg	p.L250M	ZMAT1_ENST00000458570.1_Missense_Mutation_p.L79M|ZMAT1_ENST00000540921.1_Missense_Mutation_p.L250M|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	79						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CGGGTTTCCAAAGAACTCTCT	0.443000													39	53					0	0	0.027894	0	0
CCDC132	55610	broad.mit.edu	37	7	92979234	92979234	+	Nonstop_Mutation	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:92979234A>T	ENST00000541136.1	+	24	2343	c.1781A>T	c.(1780-1782)tAg>tTg	p.*594L	CCDC132_ENST00000535481.1_Silent_p.V504V|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000544910.1_Silent_p.V754V|CCDC132_ENST00000305866.5_Silent_p.V784V			Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	0										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTGGATTGTAGCTGGTAAAG	0.338000													17	88					0	0	0.038395	0	0
TP53	7157	broad.mit.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:7577574T>C	ENST00000420246.2	-	7	839	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000269305.4_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	236	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTTACACATGTAGTTGTAGTG	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			30	29					0	0	0.050027	0	0
FOXF2	2295	broad.mit.edu	37	6	1395022	1395022	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:1395022C>T	ENST00000259806.1	+	2	1377	c.1263C>T	c.(1261-1263)ccC>ccT	p.P421P		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	421					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CTTTCCATCCCTCAGCTAGCG	0.507000													25	45					0	0	0.021523	0	0
SLC7A11	23657	broad.mit.edu	37	4	139103507	139103507	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:139103507T>C	ENST00000280612.5	-	9	1339	c.1060A>G	c.(1060-1062)Atc>Gtc	p.I354V		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	354					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	ATGGAGAGGATTTCTGGAAGG	0.393000													16	8					0	0	0.033300	0	0
ZNF208	7757	broad.mit.edu	37	19	22155123	22155123	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:22155123T>G	ENST00000397126.4	-	4	2861	c.2713A>C	c.(2713-2715)Act>Cct	p.T905P	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCATGTTTAGTAAGGATGGAG	0.378000													8	28					0	0	0.047766	0	0
ZNF750	79755	broad.mit.edu	37	17	80790065	80790065	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:80790065T>A	ENST00000269394.3	-	2	1099	c.266A>T	c.(265-267)aAg>aTg	p.K89M	TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	89						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGCGACAGACTTGGAAGAGGC	0.557000													22	52					0	0	0.021523	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518384	161518384	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:161518384C>T	ENST00000367969.3	-	3	437	c.254G>A	c.(253-255)gGa>gAa	p.G85E	FCGR3A_ENST00000540048.1_Missense_Mutation_p.G49E|FCGR3A_ENST00000436743.1_Missense_Mutation_p.G49E|FCGR3A_ENST00000443193.1_Missense_Mutation_p.G84E|FCGR3A_ENST00000476031.1_5'UTR	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	49	Ig-like C2-type 1.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGAGTAGGCTCCCTGGCACTT	0.542000													33	247					0	0	0.054565	0	0
OR1N2	138882	broad.mit.edu	37	9	125316085	125316085	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:125316085G>A	ENST00000373688.2	+	1	695	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CCATGTAAACGAGCTGATGAT	0.517000													92	61					0	0	0.048971	0	0
ACSM4	341392	broad.mit.edu	37	12	7469736	7469736	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:7469736C>T	ENST00000399422.4	+	4	672	c.624C>T	c.(622-624)ttC>ttT	p.F208F		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	208					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.F208F(2)		endometrium(6)|kidney(1)|lung(14)	21						TTTGCAGATTCGCCTCTGAAG	0.483000													10	23					0	0	0.010729	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1963138	1963138	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:1963138G>A	ENST00000382722.5	-	23	2587	c.2225C>T	c.(2224-2226)gCg>gTg	p.A742V	CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A717V|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A742V|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A678V|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A603V|CACNA2D4_ENST00000539048.2_Intron|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A678V	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	742						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GAGGGCCAGCGCTGTCCAGTA	0.617000													4	15					0	0	0.014758	0	0
ATF7IP	55729	broad.mit.edu	37	12	14591118	14591118	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:14591118G>A	ENST00000544627.1	+	5	2190	c.1870G>A	c.(1870-1872)Gat>Aat	p.D624N	ATF7IP_ENST00000540793.1_Missense_Mutation_p.D616N|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D615N|ATF7IP_ENST00000261168.4_Missense_Mutation_p.D616N|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D615N			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	616	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TGCTGTATTTGATAAGACTTT	0.383000													10	36					0	0	0.058154	0	0
FAT1	2195	broad.mit.edu	37	4	187524462	187524462	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:187524462C>A	ENST00000441802.2	-	19	11427	c.11218G>T	c.(11218-11220)Gga>Tga	p.G3740*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3740					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAGTCCAGTCCCGCGCAGAGT	0.468000										HNSCC(5;0.00058)			17	8					0.00152264	0.00155356	0.055883	1	0
PNMT	5409	broad.mit.edu	37	17	37826489	37826489	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:37826489G>A	ENST00000269582.2	+	3	1014	c.696G>A	c.(694-696)gtG>gtA	p.V232V	PNMT_ENST00000394246.1_Silent_p.V134V	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	232					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGACGGTGGTGCCAGTGTCTG	0.662000													9	4					0	0	0.058154	0	0
DIDO1	11083	broad.mit.edu	37	20	61512534	61512534	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr20:61512534C>T	ENST00000266070.4	-	16	5099	c.4774G>A	c.(4774-4776)Gag>Aag	p.E1592K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1592K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1592					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCATCTCTCTCGGGCAGGGCA	0.711000													13	15					0	0	0.016723	0	0
MRPL23	6150	broad.mit.edu	37	11	1973401	1973401	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:1973401A>G	ENST00000381514.3	+	3	207	c.185A>G	c.(184-186)aAc>aGc	p.N62S	MRPL23_ENST00000397294.3_Missense_Mutation_p.N62S|MRPL23_ENST00000397298.3_Missense_Mutation_p.N62S|MRPL23_ENST00000397297.3_Missense_Mutation_p.N62S|MRPL23_ENST00000381519.1_Missense_Mutation_p.N62S			Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	62					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGCATCTATAACGTGCCCGTG	0.552000													25	20					0	0	0.027356	0	0
GLCCI1	113263	broad.mit.edu	37	7	8126118	8126118	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:8126118G>A	ENST00000223145.5	+	8	2151	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	532										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GCTCCTGCAGGAACTGCAGGG	0.547000													49	152					0	0	0.048971	0	0
GABRB1	2560	broad.mit.edu	37	4	47428009	47428009	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:47428009G>T	ENST00000295454.3	+	9	1691	c.1399G>T	c.(1399-1401)Gtc>Ttc	p.V467F	GABRB1_ENST00000538619.1_Missense_Mutation_p.V397F	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	467					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTTTAATGTCGTCTATTGGCT	0.418000													46	27					8.04919e-23	9.40632e-23	0.048971	1	0
FAM208A	23272	broad.mit.edu	37	3	56667140	56667140	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:56667140C>T	ENST00000431842.2	-	11	3292	c.2368G>A	c.(2368-2370)Gtc>Atc	p.V790I	FAM208A_ENST00000355628.5_Missense_Mutation_p.V1166I|FAM208A_ENST00000493960.2_Missense_Mutation_p.V1227I	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	1227										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TTTTTCTGGACGTCTTTCATG	0.328000													30	18					0	0	0.030593	0	0
MCHR2	84539	broad.mit.edu	37	6	100382303	100382303	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:100382303C>A	ENST00000281806.2	-	5	992	c.678G>T	c.(676-678)gaG>gaT	p.E226D	MCHR2_ENST00000445970.1_Missense_Mutation_p.E226D|MCHR2_ENST00000369212.1_Missense_Mutation_p.E226D	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	226						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GTTGATACATCTCCCAAGTAT	0.308000													14	54					1.5842e-08	1.74002e-08	0.016723	1	0
PLEKHG5	57449	broad.mit.edu	37	1	6531696	6531696	+	Splice_Site	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:6531696A>T	ENST00000377748.1	-	13	1861	c.1362_splice	c.e13-1	p.V455_splice	PLEKHG5_ENST00000535355.1_Splice_Site_p.V447_splice|PLEKHG5_ENST00000544978.1_Splice_Site_p.V378_splice|PLEKHG5_ENST00000537245.1_Splice_Site_p.V457_splice|PLEKHG5_ENST00000377737.2_Splice_Site_p.V378_splice|PLEKHG5_ENST00000400915.3_Splice_Site_p.V434_splice|PLEKHG5_ENST00000400913.1_Splice_Site_p.V378_splice|PLEKHG5_ENST00000377732.1_Splice_Site_p.V415_splice|PLEKHG5_ENST00000377725.1_Splice_Site_p.V378_splice|PLEKHG5_ENST00000377728.3_Splice_Site_p.V378_splice|PLEKHG5_ENST00000340850.5_Splice_Site_p.V378_splice|PLEKHG5_ENST00000377740.3_Splice_Site_p.V455_splice	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	434	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CTCCGCCTCCACCTGGGCGCG	0.736000													5	0					0	0	0.014758	0	0
LAMA2	3908	broad.mit.edu	37	6	129637295	129637295	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:129637295G>A	ENST00000421865.2	+	27	4086	c.4037G>A	c.(4036-4038)gGa>gAa	p.G1346E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1346	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTACTTATGGAAATTTCATG	0.343000													14	15					0	0	0.024245	0	0
ST8SIA1	6489	broad.mit.edu	37	12	22487097	22487097	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:22487097G>A	ENST00000396037.4	-	1	551	c.70C>T	c.(70-72)Ccg>Tcg	p.P24S	ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000381424.3_Missense_Mutation_p.P24S|ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000404299.3_Missense_Mutation_p.P24S	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	24					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CGGGTCCGCGGGAACTTCCAC	0.692000													67	85					0	0	0.048971	0	0
DCDC1	341019	broad.mit.edu	37	11	31123808	31123808	+	Silent	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:31123808A>G	ENST00000597505.1	-	13	1898	c.1899T>C	c.(1897-1899)ttT>ttC	p.F633F	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AATTAATTGGAAATCCCTCAC	0.308000													6	7					0	0	0.029380	0	0
LOC644669	644669	broad.mit.edu	37	18	15323340	15323340	+	RNA	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr18:15323340A>G	ENST00000455308.2	-	0	508					NR_027417.1																						CTTATGGCCAATAAAAGTGGT	0.299000													2	3					0	0	0.004672	0	0
GDAP1	54332	broad.mit.edu	37	8	75276509	75276509	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr8:75276509G>A	ENST00000220822.7	+	6	1064	c.984G>A	c.(982-984)ttG>ttA	p.L328L	GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Silent_p.L260L	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	328						cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TGGTTGGTTTGCTTGCAGGAG	0.433000													21	46					0	0	0.049695	0	0
ZNF511	118472	broad.mit.edu	37	10	135123687	135123687	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr10:135123687G>A	ENST00000359035.3	+	4	452	c.449G>A	c.(448-450)gGc>gAc	p.G150D	ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000368554.4_Missense_Mutation_p.G85D|ZNF511_ENST00000361518.5_Missense_Mutation_p.G150D			Q8NB15	ZN511_HUMAN	zinc finger protein 511	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		TTGGTAGAAGGCTGCACAGAG	0.582000													52	72					0	0	0.048971	0	0
ZEB2	9839	broad.mit.edu	37	2	145187516	145187516	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:145187516C>T	ENST00000558170.2	-	3	1335	c.151G>A	c.(151-153)Ggt>Agt	p.G51S	ZEB2_ENST00000539609.3_Missense_Mutation_p.G51S|ZEB2_ENST00000409487.3_Missense_Mutation_p.G51S|ZEB2_ENST00000303660.4_Missense_Mutation_p.G51S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	51						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTGGCAATACCGTCATCCTCA	0.502000													12	79					0	0	0.013537	0	0
ECE1	1889	broad.mit.edu	37	1	21585219	21585219	+	Silent	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:21585219G>C	ENST00000415912.2	-	6	806	c.681C>G	c.(679-681)gcC>gcG	p.A227A	ECE1_ENST00000357071.4_Silent_p.A231A|ECE1_ENST00000264205.6_Silent_p.A240A|ECE1_ENST00000436918.2_Silent_p.A243A|ECE1_ENST00000374893.6_Silent_p.A243A	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	243					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TCTTGGAATCGGCACTGACAT	0.572000													7	31					0	0	0.047766	0	0
DDX54	79039	broad.mit.edu	37	12	113599728	113599728	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:113599728C>G	ENST00000314045.7	-	18	2297	c.2270G>C	c.(2269-2271)cGc>cCc	p.R757P	DDX54_ENST00000306014.5_Missense_Mutation_p.R757P	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	757					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCTGATGTAGCGGCCGCTCTC	0.582000													48	92					0	0	0.048971	0	0
KLC2	64837	broad.mit.edu	37	11	66031616	66031616	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:66031616C>T	ENST00000394065.2	+	6	1643	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	KLC2_ENST00000394066.2_Missense_Mutation_p.R271W|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000394067.2_Missense_Mutation_p.R348W|KLC2_ENST00000417856.1_Missense_Mutation_p.R348W|KLC2_ENST00000421552.1_Missense_Mutation_p.R271W|KLC2_ENST00000316924.5_Missense_Mutation_p.R348W			Q9H0B6	KLC2_HUMAN	kinesin light chain 2	348					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ATATTACTATCGGCGGGCACT	0.587000													3	1					0	0	0.009096	0	0
SCLT1	132320	broad.mit.edu	37	4	130014244	130014244	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:130014244G>C	ENST00000281142.5	-	1	518	c.15C>G	c.(13-15)atC>atG	p.I5M	SCLT1_ENST00000503215.1_De_novo_Start_InFrame|SCLT1_ENST00000511426.1_Missense_Mutation_p.I5M|SCLT1_ENST00000506368.1_Missense_Mutation_p.I5M|SCLT1_ENST00000503401.1_Intron|SCLT1_ENST00000439369.2_Missense_Mutation_p.I5M|SCLT1_ENST00000434680.1_Missense_Mutation_p.I5M	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	5						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TCAGAAAGTCGATTTCTGCAG	0.383000													29	15					0	0	0.050027	0	0
KEAP1	9817	broad.mit.edu	37	19	10600447	10600447	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:10600447G>A	ENST00000171111.5	-	4	1955	c.1408C>T	c.(1408-1410)Cgt>Tgt	p.R470C	KEAP1_ENST00000393623.2_Missense_Mutation_p.R470C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.R470C(3)|p.R470S(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TAAAGGAGACGATTGAGGACA	0.557000													16	13					0	0	0.033300	0	0
PWP2	5822	broad.mit.edu	37	21	45535281	45535281	+	Splice_Site	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr21:45535281G>A	ENST00000291576.7	+	6	733		c.e6+1			NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)							cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CAGCCTGGACGTATGTCCCTT	0.602000													28	84					0	0	0.030593	0	0
HAUS6	54801	broad.mit.edu	37	9	19063104	19063104	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:19063104C>T	ENST00000380502.3	-	14	1998	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N	HAUS6_ENST00000380496.1_Missense_Mutation_p.D375N	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	511					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTTGCAACATCTGATAATGGA	0.368000													60	114					0	0	0.048971	0	0
DPF3	8110	broad.mit.edu	37	14	73198527	73198527	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr14:73198527G>C	ENST00000541685.1	-	4	429	c.417C>G	c.(415-417)atC>atG	p.I139M	DPF3_ENST00000556509.1_Missense_Mutation_p.I139M|DPF3_ENST00000546183.1_Missense_Mutation_p.I149M	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	139					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GTATTTCCTGGATGCTTTCCT	0.577000													5	16					0	0	0.021553	0	0
MYO19	80179	broad.mit.edu	37	17	34863298	34863298	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:34863298G>C	ENST00000431794.3	-	16	1929	c.1407C>G	c.(1405-1407)aaC>aaG	p.N469K	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	469	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AACAGGGCTGGTTGTCCTGGT	0.542000													39	32					0	0	0.039052	0	0
AKR1C4	1109	broad.mit.edu	37	10	5247720	5247720	+	Splice_Site	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr10:5247720C>A	ENST00000380448.1	+	6	623	c.369_splice	c.e6-1	p.P124_splice	AKR1C4_ENST00000263126.1_Splice_Site_p.P124_splice			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	124					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	TCTACTTCAGCCAGGTGAGAC	0.448000													20	4					1.00905e-13	1.13943e-13	0.049695	1	0
DNAH1	25981	broad.mit.edu	37	3	52383302	52383302	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:52383302C>G	ENST00000420323.2	+	14	2653	c.2392C>G	c.(2392-2394)Ccc>Gcc	p.P798A		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	798	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCTCGCTGCCCAGCAGCAT	0.592000													20	8					0	0	0.049695	0	0
CYP3A5	1577	broad.mit.edu	37	7	99258197	99258197	+	Silent	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:99258197A>G	ENST00000343703.5	-	11	1307	c.921T>C	c.(919-921)acT>acC	p.T307T	CYP3A5_ENST00000222982.4_Silent_p.T317T|CYP3A5_ENST00000339843.2_3'UTR					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					GTTCATATAAAGTGAAGGAAA	0.473000													17	105					0	0	0.033300	0	0
HAUS6	54801	broad.mit.edu	37	9	19063008	19063008	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:19063008C>G	ENST00000380502.3	-	14	2094	c.1627G>C	c.(1627-1629)Gag>Cag	p.E543Q	HAUS6_ENST00000380496.1_Missense_Mutation_p.E407Q	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	543					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		p.E543K(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTTCTCACCTCTTCTACCAGA	0.413000													43	138					0	0	0.036044	0	0
ZNF451	26036	broad.mit.edu	37	6	56997884	56997884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:56997884C>T	ENST00000370706.4	+	6	713	c.469C>T	c.(469-471)Cga>Tga	p.R157*	ZNF451_ENST00000357489.3_Nonsense_Mutation_p.R157*|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.R157*|RP11-203B9.4_ENST00000588811.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAGTTCATTCCGAAGAGGAGG	0.393000													15	44					0	0	0.024245	0	0
GPR141	353345	broad.mit.edu	37	7	37780320	37780320	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:37780320A>G	ENST00000447769.1	+	4	614	c.325A>G	c.(325-327)Atc>Gtc	p.I109V	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.I109V			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	109						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTATGTGGTGATCCTGGTCAC	0.483000													17	58					0	0	0.033300	0	0
ERBB2	2064	broad.mit.edu	37	17	37865676	37865676	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:37865676C>T	ENST00000406381.2	+	6	965	c.455C>T	c.(454-456)aCa>aTa	p.T152I	ERBB2_ENST00000540042.1_Missense_Mutation_p.T152I|ERBB2_ENST00000584601.1_Missense_Mutation_p.T152I|ERBB2_ENST00000269571.5_Missense_Mutation_p.T182I|ERBB2_ENST00000584450.1_Missense_Mutation_p.T182I|ERBB2_ENST00000540147.1_Missense_Mutation_p.T152I|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000541774.1_Missense_Mutation_p.T167I|ERBB2_ENST00000578199.1_Missense_Mutation_p.T152I	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	182					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CTGGCTCTCACACTGATAGAC	0.562000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			14	36					0	0	0.020292	0	0
IL6	3569	broad.mit.edu	37	7	22766989	22766989	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:22766989G>A	ENST00000420258.2	+	1	171	c.108G>A	c.(106-108)gcG>gcA	p.A36A	IL6_ENST00000404625.1_Intron|IL6_ENST00000401630.3_Intron|IL6_ENST00000401651.1_Intron|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000258743.5_Intron|IL6_ENST00000406575.1_Intron|IL6_ENST00000407492.1_Intron			P05231	IL6_HUMAN	interleukin 6 (interferon, beta 2)	0					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	GAGGGCTGGCGGGCGGCCAGC	0.677000											OREG0017891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	6					0	0	0.016723	0	0
KLK4	9622	broad.mit.edu	37	19	51411651	51411651	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:51411651G>T	ENST00000324041.1	-	4	575	c.576C>A	c.(574-576)tgC>tgA	p.C192*	KLK4_ENST00000431178.2_Intron	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	192	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CTCCGCCGGCGCAGAACATGC	0.622000													56	52					6.3091e-27	7.45959e-27	0.048971	1	0
PLCH1	23007	broad.mit.edu	37	3	155199373	155199373	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:155199373G>T	ENST00000460012.1	-	23	4709	c.4352C>A	c.(4351-4353)cCt>cAt	p.P1451H	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.P1451H|PLCH1_ENST00000340059.7_Missense_Mutation_p.P1489H|PLCH1_ENST00000334686.6_Missense_Mutation_p.P1451H|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1489					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGATTTGCAAGGACTAGGCAG	0.468000													13	59					6.31663e-08	6.86293e-08	0.024245	1	0
ITPRIPL1	150771	broad.mit.edu	37	2	96993685	96993685	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:96993685C>T	ENST00000361124.4	+	1	1751	c.1340C>T	c.(1339-1341)gCa>gTa	p.A447V	ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.A431V|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.A431V|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.A439V	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	439						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCCATGGAGCATCCCGCCCC	0.562000													42	67					0	0	0.036044	0	0
NUMBL	9253	broad.mit.edu	37	19	41188693	41188693	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:41188693G>A	ENST00000252891.4	-	5	506	c.339C>T	c.(337-339)tcC>tcT	p.S113S	NUMBL_ENST00000598779.1_Silent_p.S72S|NUMBL_ENST00000540131.1_Silent_p.S72S	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	113	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	p.S113S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CAGACTTCACGGACTTTCGGC	0.652000													17	133					0	0	0.038395	0	0
KIF1A	547	broad.mit.edu	37	2	241706365	241706365	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:241706365C>T	ENST00000498729.2	-	19	1897	c.1651G>A	c.(1651-1653)Gtc>Atc	p.V551I	KIF1A_ENST00000320389.7_Missense_Mutation_p.V542I	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	542	FHA.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTCCGGAAGACGCAGTGCTCC	0.637000													4	8					0	0	0.009096	0	0
ASB4	51666	broad.mit.edu	37	7	95157520	95157520	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:95157520G>C	ENST00000325885.5	+	3	954	c.883G>C	c.(883-885)Gtc>Ctc	p.V295L	ASB4_ENST00000428113.1_Missense_Mutation_p.V295L	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	295					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CGTGCTGAAGGTCACCTCCGT	0.572000											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	51					0	0	0.058154	0	0
COL24A1	255631	broad.mit.edu	37	1	86590952	86590952	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:86590952A>C	ENST00000370571.2	-	3	1433	c.1067T>G	c.(1066-1068)aTc>aGc	p.I356S	COL24A1_ENST00000436319.1_Missense_Mutation_p.I356S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	356					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGCCTCACTGATGCGATGAGT	0.418000													25	19					0	0	0.021523	0	0
PDCL	5082	broad.mit.edu	37	9	125585430	125585430	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:125585430C>G	ENST00000259467.4	-	3	384	c.219G>C	c.(217-219)gaG>gaC	p.E73D		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	73					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TCTGCTCTGTCTCCAACTGCT	0.537000													29	124					0	0	0.034045	0	0
CCDC57	284001	broad.mit.edu	37	17	80121141	80121141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:80121141C>T	ENST00000392347.1	-	13	2011	c.1975G>A	c.(1975-1977)Gca>Aca	p.A659T	CCDC57_ENST00000392343.3_Missense_Mutation_p.A659T|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000389641.4_Missense_Mutation_p.A659T	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	659										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TTCCTGAGTGCCAGTCCAGAG	0.587000													4	119					0	0	0.009096	0	0
USP22	23326	broad.mit.edu	37	17	20924462	20924462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:20924462C>T	ENST00000261497.4	-	3	585	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	USP22_ENST00000537526.2_Missense_Mutation_p.A116T|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	128					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						TCCTCCTTGGCGATTATTTCC	0.483000													18	28					0	0	0.033300	0	0
ZNF707	286075	broad.mit.edu	37	8	144776666	144776666	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr8:144776666G>A	ENST00000532205.1	+	8	1981	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	ZNF707_ENST00000358656.4_Missense_Mutation_p.R361Q|ZNF707_ENST00000454097.1_Missense_Mutation_p.R361Q|ZNF707_ENST00000532158.1_Missense_Mutation_p.R361Q|ZNF707_ENST00000418203.2_Missense_Mutation_p.R361Q			Q96C28	ZN707_HUMAN	zinc finger protein 707	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TTCTTCACGCGGCATCAGAGG	0.647000													25	16					0	0	0.027356	0	0
ZNF697	90874	broad.mit.edu	37	1	120165879	120165879	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:120165879C>T	ENST00000421812.2	-	3	1206	c.1087G>A	c.(1087-1089)Gtg>Atg	p.V363M		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GAACGGCGCACGAAGCCCTTG	0.746000													2	1					0	0	0.004672	0	0
ZNF100	163227	broad.mit.edu	37	19	21948566	21948566	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:21948566C>T	ENST00000358296.6	-	2	224	c.26G>A	c.(25-27)tGt>tAt	p.C9Y	ZNF100_ENST00000596452.1_5'UTR	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						CTTGAGAGGACACATTCCATA	0.468000													17	45					0	0	0.038395	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530203	80530203	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:80530203C>T	ENST00000295057.3	-	2	1398	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.V248M	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	248						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GAGCTGACCACAATGGCCACC	0.592000										HNSCC(69;0.2)			18	55					0	0	0.038395	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906141	164906141	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:164906141C>A	ENST00000475390.1	-	2	2921	c.2478G>T	c.(2476-2478)caG>caT	p.Q826H	SLITRK3_ENST00000241274.3_Missense_Mutation_p.Q826H			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	826						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TGGTGTTAAGCTGGGAGCTGG	0.547000										HNSCC(40;0.11)			39	73					6.02501e-08	6.58167e-08	0.025465	1	0
KCNJ10	3766	broad.mit.edu	37	1	160011784	160011784	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:160011784C>T	ENST00000368089.3	-	2	765	c.539G>A	c.(538-540)cGt>cAt	p.R180H	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	180						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGCTGAAACGAATGGTCTC	0.562000													67	84					0	0	0.048971	0	0
HAUS6	54801	broad.mit.edu	37	9	19063029	19063029	+	Missense_Mutation	SNP	C	C	G	rs34304297		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:19063029C>G	ENST00000380502.3	-	14	2073	c.1606G>C	c.(1606-1608)Gag>Cag	p.E536Q	HAUS6_ENST00000380496.1_Missense_Mutation_p.E400Q	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	536					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGATCTTGCTCTTTTTGAAAT	0.388000													57	159					0	0	0.048971	0	0
IMPG2	50939	broad.mit.edu	37	3	101038496	101038496	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:101038496A>T	ENST00000193391.7	-	2	453	c.266T>A	c.(265-267)gTg>gAg	p.V89E		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	89					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCAGATTTTCACTCCATTAGG	0.433000													67	30					0	0	0.048971	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58357778	58357778	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr15:58357778T>C	ENST00000249750.4	-	1	838	c.71A>G	c.(70-72)cAc>cGc	p.H24R	ALDH1A2_ENST00000537372.1_5'UTR|ALDH1A2_ENST00000558231.1_Intron|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.H24R|CTD-2330J20.2_ENST00000559684.1_RNA	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	24					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	p.H24L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CGGCAGGAGGTGCAGCGACGC	0.652000													9	35					0	0	0.047766	0	0
ZHX3	23051	broad.mit.edu	37	20	39832157	39832157	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr20:39832157G>A	ENST00000309060.3	-	4	1815	c.1400C>T	c.(1399-1401)aCg>aTg	p.T467M	ZHX3_ENST00000559234.1_Missense_Mutation_p.T467M|ZHX3_ENST00000544979.2_Missense_Mutation_p.T467M|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.T467M|ZHX3_ENST00000560361.1_Missense_Mutation_p.T467M|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.T467M			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	467	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CACAGCTGACGTTGTATTTGA	0.542000													6	20					0	0	0.021553	0	0
FAT1	2195	broad.mit.edu	37	4	187524463	187524463	+	Silent	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:187524463C>A	ENST00000441802.2	-	19	11426	c.11217G>T	c.(11215-11217)gcG>gcT	p.A3739A		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3739					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGTCCAGTCCCGCGCAGAGTT	0.463000										HNSCC(5;0.00058)			17	8					0.00152264	0.00155356	0.055883	1	0
MMP12	4321	broad.mit.edu	37	11	102734976	102734976	+	RNA	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:102734976C>T	ENST00000532855.1	-	0	1308							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGTCTCCTTTCATCATACCTG	0.448000													5	21					0	0	0.021553	0	0
PTPRR	5801	broad.mit.edu	37	12	71078046	71078046	+	Splice_Site	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:71078046T>A	ENST00000283228.2	-	10	1812		c.e10-2		PTPRR_ENST00000342084.4_Splice_Site|PTPRR_ENST00000440835.2_Splice_Site|PTPRR_ENST00000378778.1_Splice_Site|PTPRR_ENST00000549308.1_Splice_Site	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ACTGTAGCCCTAGATGGAGTA	0.453000													14	27					0	0	0.024245	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135911438	135911438	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:135911438G>A	ENST00000264158.8	+	19	2324	c.2281G>A	c.(2281-2283)Gca>Aca	p.A761T	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A761T|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A717T	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	761						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TACACGGGAAGCAGAAAAGGT	0.418000													5	36					0	0	0.029380	0	0
FREM2	341640	broad.mit.edu	37	13	39266021	39266021	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr13:39266021G>T	ENST00000280481.7	+	1	4756	c.4540G>T	c.(4540-4542)Gga>Tga	p.G1514*		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1514					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGTCACCGATGGACGTAACCC	0.448000													17	57					3.45872e-05	3.60208e-05	0.028581	1	0
PAX5	5079	broad.mit.edu	37	9	37020768	37020768	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:37020768A>C	ENST00000358127.4	-	2	151	c.77T>G	c.(76-78)gTt>gGt	p.V26G	PAX5_ENST00000522003.1_Intron|PAX5_ENST00000377853.2_Missense_Mutation_p.V26G|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000446742.1_Missense_Mutation_p.V26G|PAX5_ENST00000377852.2_Missense_Mutation_p.V26G|PAX5_ENST00000520154.1_Missense_Mutation_p.V26G|PAX5_ENST00000377847.2_Missense_Mutation_p.V26G|PAX5_ENST00000520281.1_Missense_Mutation_p.V26G|PAX5_ENST00000523241.1_Missense_Mutation_p.V26G|PAX5_ENST00000414447.1_Missense_Mutation_p.V26G	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	26	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(41)|p.V26G(3)|p.V26fs*49(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		ATTCACAAAAACCCCCCCAAG	0.527000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								9	73					0	0	0.020292	0	0
MGAM	8972	broad.mit.edu	37	7	141734603	141734603	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:141734603C>A	ENST00000475668.2	+	16	1975	c.1921C>A	c.(1921-1923)Cct>Act	p.P641T	MGAM_ENST00000549489.2_Missense_Mutation_p.P641T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	641	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGGTCCATCCCTGGCGTGCT	0.507000													23	24					3.28513e-13	3.68889e-13	0.021523	1	0
TRPM3	80036	broad.mit.edu	37	9	73164503	73164503	+	Missense_Mutation	SNP	C	C	A	rs139956868	by1000genomes	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:73164503C>A	ENST00000377110.2	-	24	3869	c.3626G>T	c.(3625-3627)cGg>cTg	p.R1209L	TRPM3_ENST00000377105.1_Missense_Mutation_p.R1068L|TRPM3_ENST00000377111.2_Missense_Mutation_p.R1209L|TRPM3_ENST00000423814.3_Missense_Mutation_p.R1236L|TRPM3_ENST00000360823.2_Missense_Mutation_p.R1071L|TRPM3_ENST00000408909.2_Missense_Mutation_p.R1068L|TRPM3_ENST00000377106.1_Missense_Mutation_p.R1081L|TRPM3_ENST00000396280.5_Missense_Mutation_p.R1058L|TRPM3_ENST00000396285.1_Missense_Mutation_p.R1068L|TRPM3_ENST00000396292.4_Missense_Mutation_p.R1081L|TRPM3_ENST00000357533.2_Missense_Mutation_p.R1213L|TRPM3_ENST00000358082.3_Missense_Mutation_p.R1071L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1234						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGAGTTGAACCGATCATCCTT	0.423000													30	27					2.61193e-14	2.98295e-14	0.041601	1	0
ZNF572	137209	broad.mit.edu	37	8	125990080	125990080	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr8:125990080G>A	ENST00000319286.5	+	3	1724	c.1570G>A	c.(1570-1572)Gtc>Atc	p.V524I		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTCATTTTCCGTCTCAAATTC	0.428000										HNSCC(60;0.17)			39	49					0	0	0.080422	0	0
FAM86C2P	645332	broad.mit.edu	37	11	67560591	67560591	+	RNA	SNP	G	G	A	rs11227961		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:67560591G>A	ENST00000528089.1	-	0	1159																											AGTTTTATCCGCTTTCCCATA	0.413000													3	23					0	0	0.014758	0	0
COL4A5	1287	broad.mit.edu	37	X	107865911	107865911	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chrX:107865911G>A	ENST00000328300.6	+	33	3017	c.2773G>A	c.(2773-2775)Gat>Aat	p.D925N	COL4A5_ENST00000361603.2_Missense_Mutation_p.D925N	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	925	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTAGGTGATGATGGCTTGCA	0.413000									Alport syndrome with Diffuse Leiomyomatosis				19	40					0	0	0.021523	0	0
MPP6	51678	broad.mit.edu	37	7	24705286	24705286	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:24705286G>A	ENST00000396475.2	+	8	1162	c.863G>A	c.(862-864)aGa>aAa	p.R288K	MPP6_ENST00000409761.1_Missense_Mutation_p.R176K|MPP6_ENST00000222644.4_Missense_Mutation_p.R288K	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	288					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GCATTTGTTAGAAGAGACTGG	0.413000													23	17					0	0	0.069288	0	0
DHX33	56919	broad.mit.edu	37	17	5365857	5365857	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:5365857T>C	ENST00000225296.3	-	3	660	c.460A>G	c.(460-462)Aca>Gca	p.T154A	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	154	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGCGCACTGTATAGCCAACC	0.478000													18	60					0	0	0.038395	0	0
AP3D1	8943	broad.mit.edu	37	19	2121212	2121212	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:2121212G>A	ENST00000355272.6	-	13	1406	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	AP3D1_ENST00000356926.4_Silent_p.I309I|AP3D1_ENST00000345016.5_Silent_p.I400I|AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000350812.6_Silent_p.I231I	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	400					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATGTCAATGATCTTGGTGA	0.582000													26	26					0	0	0.034045	0	0
PIK3CG	5294	broad.mit.edu	37	7	106523581	106523581	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:106523581C>T	ENST00000359195.3	+	8	3043	c.2733C>T	c.(2731-2733)ctC>ctT	p.L911L	PIK3CG_ENST00000496166.1_Silent_p.L911L|PIK3CG_ENST00000440650.2_Silent_p.L911L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	911	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ATCACTGGCTCAAAGAAAAAT	0.428000													5	153					0	0	0.014758	0	0
C21orf58	54058	broad.mit.edu	37	21	47737166	47737166	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr21:47737166C>A	ENST00000291691.7	-	3	1462	c.326G>T	c.(325-327)cGg>cTg	p.R109L	C21orf58_ENST00000397679.1_5'UTR|C21orf58_ENST00000397682.3_5'UTR|C21orf58_ENST00000397685.4_Missense_Mutation_p.R26L|C21orf58_ENST00000397680.1_5'UTR|C21orf58_ENST00000397683.1_5'UTR	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	109										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		CACGTTCTGCCGTTCTTGCTC	0.597000													10	9					0.000673444	0.000697744	0.069234	1	0
CSPP1	79848	broad.mit.edu	37	8	68076024	68076024	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr8:68076024C>T	ENST00000262210.5	+	21	2717	c.2686C>T	c.(2686-2688)Cgt>Tgt	p.R896C	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.R551C	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	931						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAATCAGCTCCGTGCAGAAGG	0.383000													11	27					0	0	0.010729	0	0
UBAP2	55833	broad.mit.edu	37	9	33943473	33943473	+	Missense_Mutation	SNP	G	G	T	rs147087482		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:33943473G>T	ENST00000379238.1	-	15	1777	c.1660C>A	c.(1660-1662)Cca>Aca	p.P554T	UBAP2_ENST00000379225.1_Missense_Mutation_p.P187T|UBAP2_ENST00000539807.1_Missense_Mutation_p.P309T|UBAP2_ENST00000379239.4_Missense_Mutation_p.P287T|UBAP2_ENST00000360802.1_Missense_Mutation_p.P554T|UBAP2_ENST00000449054.1_Missense_Mutation_p.P554T|UBAP2_ENST00000418786.2_Missense_Mutation_p.P501T			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	554										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCACTGCTTGGAGCTGATCCA	0.408000													17	67					3.70931e-20	4.30967e-20	0.038395	1	0
VPS37C	55048	broad.mit.edu	37	11	60901634	60901634	+	Missense_Mutation	SNP	G	G	A	rs144006897		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:60901634G>A	ENST00000301765.5	-	3	371	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	47					cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GCCAGGCTCCGGTTGGTGGCC	0.582000													22	62					0	0	0.062417	0	0
ZNF320	162967	broad.mit.edu	37	19	53384345	53384345	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:53384345T>A	ENST00000595635.1	-	8	1535	c.1034A>T	c.(1033-1035)gAa>gTa	p.E345V	ZNF320_ENST00000391781.2_Missense_Mutation_p.E345V|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		CCTATGTCTTTCAAGATGTGA	0.428000													66	25					0	0	0.048971	0	0
PTPRB	5787	broad.mit.edu	37	12	70925945	70925945	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:70925945C>A	ENST00000334414.6	-	32	6418	c.6374G>T	c.(6373-6375)gGt>gTt	p.G2125V	RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.G1817V|PTPRB_ENST00000538708.1_Missense_Mutation_p.G1817V|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000261266.5_Missense_Mutation_p.G1907V|PTPRB_ENST00000550358.1_Missense_Mutation_p.G2037V|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000451516.2_Missense_Mutation_p.G1817V	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1907					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCTACCCACACCAGCACTAGA	0.433000													11	28					5.50884e-06	5.82777e-06	0.013537	1	0
CCNB3	85417	broad.mit.edu	37	X	50051787	50051787	+	Missense_Mutation	SNP	T	T	A	rs147712690	byFrequency	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chrX:50051787T>A	ENST00000376042.1	+	6	916	c.618T>A	c.(616-618)ttT>ttA	p.F206L	CCNB3_ENST00000276014.7_Missense_Mutation_p.F206L|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	206					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ATGATGCGTTTGTTATAGAGC	0.413000													36	4					0	0	0.064281	0	0
GAPVD1	26130	broad.mit.edu	37	9	128092450	128092450	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr9:128092450A>G	ENST00000470056.1	+	11	2286	c.2126A>G	c.(2125-2127)gAg>gGg	p.E709G	GAPVD1_ENST00000495955.1_Missense_Mutation_p.E709G|GAPVD1_ENST00000394104.2_Missense_Mutation_p.E709G|GAPVD1_ENST00000394083.2_Missense_Mutation_p.E688G|GAPVD1_ENST00000265956.4_Missense_Mutation_p.E709G|GAPVD1_ENST00000297933.6_Missense_Mutation_p.E709G|GAPVD1_ENST00000312123.9_Missense_Mutation_p.E688G|GAPVD1_ENST00000394105.2_Missense_Mutation_p.E709G			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	709					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACCATATCAGAGACAACAAGT	0.433000													32	98					0	0	0.054565	0	0
GIGYF1	64599	broad.mit.edu	37	7	100285665	100285665	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:100285665T>G	ENST00000275732.5	-	2	1313	c.104A>C	c.(103-105)aAg>aCg	p.K35T	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	35										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTCAGCCAGCTTGTATTTGGG	0.642000													26	95					0	0	0.021523	0	0
FAM181B	220382	broad.mit.edu	37	11	82444616	82444616	+	Silent	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:82444616C>A	ENST00000329203.3	-	1	290	c.156G>T	c.(154-156)tcG>tcT	p.S52S		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	52										large_intestine(1)|lung(2)|prostate(1)	4						CTTCGGCTCCCGACAGCAGCG	0.692000													8	11					7.48243e-07	7.99983e-07	0.058154	1	0
PFAS	5198	broad.mit.edu	37	17	8170695	8170695	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:8170695C>T	ENST00000314666.6	+	25	3314	c.3181C>T	c.(3181-3183)Ccc>Tcc	p.P1061S	PFAS_ENST00000545834.1_Missense_Mutation_p.P637S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1061					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCAAGGTGGTCCCAGCCCCCG	0.607000													70	110					0	0	0.048971	0	0
TRIML2	205860	broad.mit.edu	37	4	189022227	189022227	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:189022227A>G	ENST00000512729.1	-	3	687	c.313T>C	c.(313-315)Ttc>Ctc	p.F105L	TRIML2_ENST00000536972.1_Missense_Mutation_p.F155L|TRIML2_ENST00000326754.3_Missense_Mutation_p.F105L	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	105							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ATTTCCTGGAACATCTCCTCT	0.398000													11	15					0	0	0.010729	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906887	164906887	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:164906887C>T	ENST00000475390.1	-	2	2175	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	SLITRK3_ENST00000241274.3_Missense_Mutation_p.E578K			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	578	LRRCT 2.					integral to membrane		p.E578K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTGATGGTTTCGATCCACTGT	0.517000										HNSCC(40;0.11)			6	69					0	0	0.038147	0	0
SUN5	140732	broad.mit.edu	37	20	31583478	31583478	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr20:31583478T>A	ENST00000356173.3	-	8	573	c.481A>T	c.(481-483)Agc>Tgc	p.S161C	SUN5_ENST00000375523.3_Missense_Mutation_p.S136C	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	161					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TGGTTCATGCTACCTCGGAGG	0.493000													44	246					0	0	0.048971	0	0
MAST4	375449	broad.mit.edu	37	5	66426148	66426148	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr5:66426148G>A	ENST00000404260.3	+	15	2173	c.1865G>A	c.(1864-1866)cGg>cAg	p.R622Q	MAST4_ENST00000405643.1_Missense_Mutation_p.R440Q|MAST4_ENST00000403625.2_Missense_Mutation_p.R619Q|MAST4_ENST00000403666.1_Missense_Mutation_p.R430Q|MAST4_ENST00000261569.7_Missense_Mutation_p.R425Q			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	622	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTTGTGGAGCGGGATATCCTG	0.458000													20	19					0	0	0.062417	0	0
ZNF18	7566	broad.mit.edu	37	17	11895778	11895778	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:11895778G>A	ENST00000322748.3	-	4	973	c.369C>T	c.(367-369)ccC>ccT	p.P123P	ZNF18_ENST00000454073.3_Silent_p.P123P|ZNF18_ENST00000580613.1_Silent_p.P72P|ZNF18_ENST00000580306.1_Silent_p.P123P	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	123	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		ACAGTCTCTGGGGGTCCCCCT	0.532000													25	33					0	0	0.076483	0	0
TMEM150B	284417	broad.mit.edu	37	19	55831420	55831420	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:55831420A>T	ENST00000326652.4	-	6	493	c.311T>A	c.(310-312)gTa>gAa	p.V104E	TMEM150B_ENST00000438693.1_Missense_Mutation_p.V104E			A6NC51	T150B_HUMAN	transmembrane protein 150B	104						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						GAAATTGCCTACCACGGAGGT	0.617000													63	12					0	0	0.048971	0	0
PIN1	5300	broad.mit.edu	37	19	9959816	9959816	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:9959816G>A	ENST00000247970.4	+	4	455	c.433G>A	c.(433-435)Gag>Aag	p.E145K	PIN1_ENST00000588695.1_Missense_Mutation_p.E145K|PIN1_ENST00000380889.6_3'UTR	NM_006221.3	NP_006212.1	Q13526	PIN1_HUMAN	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	145	PpiC.				cell cycle|negative regulation of cell motility|negative regulation of ERK1 and ERK2 cascade|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation	nucleoplasm	GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding			skin(3)	3						GCGGACGGGGGAGATGAGCGG	0.687000													11	22					0	0	0.010729	0	0
BSN	8927	broad.mit.edu	37	3	49689861	49689861	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:49689861C>T	ENST00000296452.4	+	5	2986	c.2872C>T	c.(2872-2874)Cgg>Tgg	p.R958W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	958					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAGTCTGGACCGGGAGCCTGA	0.622000													43	14					0	0	0.039052	0	0
TMEM130	222865	broad.mit.edu	37	7	98446238	98446238	+	Silent	SNP	G	G	T	rs142570247		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:98446238G>T	ENST00000450876.1	-	7	2150	c.835C>A	c.(835-837)Cgg>Agg	p.R279R	TMEM130_ENST00000546258.1_Silent_p.R344R|TMEM130_ENST00000339375.4_Silent_p.R363R|TMEM130_ENST00000416379.2_Silent_p.R363R|TMEM130_ENST00000345589.4_Silent_p.R261R			Q8N3G9	TM130_HUMAN	transmembrane protein 130	363						Golgi membrane|integral to membrane		p.R363W(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTGGCATTCCGCAGGGTCATG	0.517000													55	29					8.89271e-47	1.06395e-46	0.048971	1	0
SUMF1	285362	broad.mit.edu	37	3	4494724	4494724	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:4494724T>C	ENST00000272902.5	-	2	315	c.280A>G	c.(280-282)Atc>Gtc	p.I94V	SUMF1_ENST00000405420.2_Missense_Mutation_p.I94V|SUMF1_ENST00000534863.1_Missense_Mutation_p.I94V|SUMF1_ENST00000383843.5_Missense_Mutation_p.I94V|SUMF1_ENST00000458465.2_Missense_Mutation_p.I94V	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	94						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CCAGCAGGGATGGGGACCATC	0.488000													5	11					0	0	0.014758	0	0
CDH9	1007	broad.mit.edu	37	5	26885873	26885873	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr5:26885873G>A	ENST00000231021.4	-	11	1904	c.1732C>T	c.(1732-1734)Caa>Taa	p.Q578*		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	578	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTGCTGCTTTGAATTGGATAA	0.458000													5	24					0	0	0.014758	0	0
NXF5	55998	broad.mit.edu	37	X	101092763	101092763	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chrX:101092763T>A	ENST00000537026.1	-	14	1269	c.910A>T	c.(910-912)Aaa>Taa	p.K304*	NXF5_ENST00000473265.2_Nonsense_Mutation_p.K304*|NXF5_ENST00000361708.2_Nonsense_Mutation_p.K304*	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	304	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CAGGGGTCTTTGAGAATTTTT	0.507000													94	23					0	0	0.048971	0	0
TMUB2	79089	broad.mit.edu	37	17	42266692	42266692	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:42266692C>T	ENST00000319511.6	+	2	928	c.278C>T	c.(277-279)gCg>gTg	p.A93V	TMUB2_ENST00000587989.1_Missense_Mutation_p.A113V|TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000446571.3_Intron|TMUB2_ENST00000590235.1_Intron|TMUB2_ENST00000357984.3_Missense_Mutation_p.A93V|TMUB2_ENST00000589785.1_Missense_Mutation_p.A93V|TMUB2_ENST00000589856.1_Missense_Mutation_p.A93V|TMUB2_ENST00000592825.1_Intron|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000538716.2_Missense_Mutation_p.A113V	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	113						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCTGAAGAGGCGGGTGAAGGT	0.612000													3	54					0	0	0.004672	0	0
PF4V1	5197	broad.mit.edu	37	4	74719102	74719102	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr4:74719102G>A	ENST00000226524.3	+	1	197	c.23G>A	c.(22-24)cGc>cAc	p.R8H		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	8					immune response	extracellular region	chemokine activity|heparin binding			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GCCAGGTCCCGCCTCACCCGC	0.652000													3	11					0	0	0.004672	0	0
MAP2K3	5606	broad.mit.edu	37	17	21215472	21215472	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:21215472C>T	ENST00000342679.4	+	10	1042	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	MAP2K3_ENST00000361818.5_Missense_Mutation_p.R236W|MAP2K3_ENST00000316920.6_Missense_Mutation_p.R236W	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	265	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GGCCATCCTGCGGTTCCCTTA	0.677000													4	48					0	0	0.014758	0	0
KIAA1033	23325	broad.mit.edu	37	12	105536970	105536970	+	Silent	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:105536970T>C	ENST00000332180.5	+	20	2046	c.1959T>C	c.(1957-1959)taT>taC	p.Y653Y		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	653					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TAGAGTCCTATGAGATACTTC	0.333000													3	32					0	0	0.004672	0	0
PIGR	5284	broad.mit.edu	37	1	207105858	207105858	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:207105858G>A	ENST00000356495.4	-	8	2134	c.1951C>T	c.(1951-1953)Ctg>Ttg	p.L651L		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	651						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCCACTGCCAGCACCAGGCCC	0.637000													47	65					0	0	0.048971	0	0
F13B	2165	broad.mit.edu	37	1	197032145	197032145	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:197032145G>A	ENST00000367412.1	-	2	150	c.107C>T	c.(106-108)gCc>gTc	p.A36V		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	36	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GTAATATTGGGCAATTCTTCC	0.323000													39	250					0	0	0.042209	0	0
FGD2	221472	broad.mit.edu	37	6	36993640	36993640	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:36993640C>T	ENST00000274963.8	+	14	1702	c.1531C>T	c.(1531-1533)Ctc>Ttc	p.L511F		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	511					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CCGAGTCTGCCTCCACTGCTA	0.622000													36	7					0	0	0.059317	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307562	39307562	+	Missense_Mutation	SNP	C	C	T	rs3732380	by1000genomes	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:39307562C>T	ENST00000541347.1	-	2	678	c.439G>A	c.(439-441)Gtc>Atc	p.V147I	CX3CR1_ENST00000542107.1_Missense_Mutation_p.V147I|CX3CR1_ENST00000399220.2_Missense_Mutation_p.V147I|CX3CR1_ENST00000358309.3_Missense_Mutation_p.V179I	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	147			V -> I (in dbSNP:rs3732380).		cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CTGATGGTGACGCCATGCTGC	0.527000													4	48					0	0	0.009096	0	0
CCHCR1	54535	broad.mit.edu	37	6	31113227	31113227	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr6:31113227C>G	ENST00000396268.3	-	12	1925	c.1737G>C	c.(1735-1737)gaG>gaC	p.E579D	CCHCR1_ENST00000376266.5_Missense_Mutation_p.E490D|CCHCR1_ENST00000396263.2_Intron|CCHCR1_ENST00000451521.2_Missense_Mutation_p.E543D	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	490					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AACTTCACCTCTCCTGGCGCA	0.557000													6	31					0	0	0.069234	0	0
ATP8B4	79895	broad.mit.edu	37	15	50273431	50273431	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr15:50273431T>G	ENST00000284509.6	-	11	950	c.809A>C	c.(808-810)gAt>gCt	p.D270A	ATP8B4_ENST00000559829.1_Missense_Mutation_p.D270A|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	270					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CATCAATCTATCAATGCTTGT	0.308000													6	33					0	0	0.021553	0	0
KDELR1	10945	broad.mit.edu	37	19	48887692	48887692	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:48887692C>T	ENST00000597017.1	-	3	638	c.213G>A	c.(211-213)ccG>ccA	p.P71P	KDELR1_ENST00000330720.2_Silent_p.P133P			P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	133					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		TGAACAGCTGCGGCAAGATGG	0.582000													10	8					0	0	0.058154	0	0
MFGE8	4240	broad.mit.edu	37	15	89449094	89449094	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr15:89449094G>A	ENST00000539437.1	-	6	691	c.555C>T	c.(553-555)gtC>gtT	p.V185V	MFGE8_ENST00000268150.8_Silent_p.V193V|MFGE8_ENST00000268151.7_Silent_p.V193V|MFGE8_ENST00000566497.1_Silent_p.V193V|MFGE8_ENST00000542878.1_Silent_p.V149V|MFGE8_ENST00000559997.1_Intron			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	193	F5/8 type C 1.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CAAACAGGTTGACATGCACCG	0.582000													22	62					0	0	0.024334	0	0
CBLB	868	broad.mit.edu	37	3	105456100	105456100	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:105456100T>C	ENST00000264122.4	-	8	1307	c.986A>G	c.(985-987)tAt>tGt	p.Y329C	CBLB_ENST00000405772.1_Missense_Mutation_p.Y329C|CBLB_ENST00000394027.3_Missense_Mutation_p.Y351C|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Missense_Mutation_p.Y329C	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	329	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AGGATAAAGATAACTGAATTT	0.279000			Mis S		AML								25	15					0	0	0.030593	0	0
ACBD6	84320	broad.mit.edu	37	1	180399399	180399399	+	Splice_Site	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:180399399T>A	ENST00000367595.3	-	4	1072		c.e4-2			NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6							cytoplasm|nucleus	fatty-acyl-CoA binding		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						CTCTGGTATCTGTGGGAAGGA	0.323000													13	88					0	0	0.016723	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580973	140580973	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr5:140580973C>T	ENST00000354757.3	+	1	1626	c.1626C>T	c.(1624-1626)agC>agT	p.S542S	PCDHB11_ENST00000536699.1_Silent_p.S177S	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		542	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCTTTGAGCAGCGAGGCGC	0.692000													31	21					0	0	0.042209	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423172	47423172	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:47423172C>T	ENST00000404338.3	+	1	1240	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	414	FF 2.			Q -> A (in Ref. 1; AAF80386 and 6; AAA58618).	axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CCCTGCAGAGCAGCTATACGA	0.468000													73	30					0	0	0.048971	0	0
TMEM184A	202915	broad.mit.edu	37	7	1590490	1590490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:1590490G>T	ENST00000297477.5	-	3	664	c.348C>A	c.(346-348)taC>taA	p.Y116*		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	116						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		AGTAGACGTAGTACTGGTGGT	0.642000													33	20					7.63505e-26	8.97453e-26	0.050027	1	0
RPL12P38	645688	broad.mit.edu	37	17	58511472	58511472	+	RNA	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:58511472C>A	ENST00000588627.1	-	0	1885																											TTTTTGGAGACAGACCCAGGG	0.557000													10	17					2.17888e-05	2.28101e-05	0.058154	1	0
CACNG4	27092	broad.mit.edu	37	17	65026643	65026643	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr17:65026643C>A	ENST00000262138.3	+	4	509	c.507C>A	c.(505-507)gaC>gaA	p.D169E		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	169					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			ACCCGAGTGACAAGCGGGACG	0.547000													35	72					2.68265e-12	2.99563e-12	0.054565	1	0
MAGI2	9863	broad.mit.edu	37	7	78636417	78636417	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:78636417C>T	ENST00000354212.4	-	2	660	c.407G>A	c.(406-408)cGc>cAc	p.R136H	MAGI2_ENST00000522391.1_Missense_Mutation_p.R136H|MAGI2_ENST00000419488.1_Missense_Mutation_p.R136H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	136	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGGCACCGTGCGGAGGTAGAG	0.373000													63	41					0	0	0.048971	0	0
CCDC132	55610	broad.mit.edu	37	7	92979233	92979233	+	Nonstop_Mutation	SNP	T	T	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:92979233T>G	ENST00000541136.1	+	24	2342	c.1780T>G	c.(1780-1782)Tag>Gag	p.*594E	CCDC132_ENST00000535481.1_Missense_Mutation_p.V504G|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000544910.1_Missense_Mutation_p.V754G|CCDC132_ENST00000305866.5_Missense_Mutation_p.V784G			Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	0										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TACTGGATTGTAGCTGGTAAA	0.338000													16	88					0	0	0.033300	0	0
HCFC2	29915	broad.mit.edu	37	12	104492210	104492210	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr12:104492210G>T	ENST00000229330.4	+	13	1934	c.1830G>T	c.(1828-1830)ttG>ttT	p.L610F	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	610	Fibronectin type-III 2.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATACAGCTTTGGTGAGCCAGT	0.378000													30	42					3.73988e-18	4.34701e-18	0.030593	1	0
ZFP30	22835	broad.mit.edu	37	19	38127001	38127001	+	Silent	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr19:38127001C>G	ENST00000351218.2	-	6	998	c.441G>C	c.(439-441)ctG>ctC	p.L147L	ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000392144.1_Silent_p.L147L|ZFP30_ENST00000514101.2_Silent_p.L147L	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTCTGATACAGAGGAAGAG	0.393000													22	150					0	0	0.062417	0	0
LRRC37A16P	651250	broad.mit.edu	37	17	66126548	66126548	+	RNA	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr17:66126548G>A	ENST00000590019.1	-	0	298																											CTACCACAGGGCTGGGCAGAA	0.488000													6	32					0	0	0.029380	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999984	46999984	+	Silent	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr10:46999984G>T	ENST00000374314.4	+	1	2059	c.1104G>T	c.(1102-1104)ctG>ctT	p.L368L	GPRIN2_ENST00000374317.1_Silent_p.L368L			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	368										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGGTAACTCTGGGGTCCAGCC	0.672000													10	85					7.48243e-07	8.02009e-07	0.058154	1	0
ABCC11	85320	broad.mit.edu	37	16	48250115	48250115	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr16:48250115C>T	ENST00000394747.1	-	6	1210	c.861G>A	c.(859-861)tcG>tcA	p.S287S	ABCC11_ENST00000356608.2_Silent_p.S287S|ABCC11_ENST00000394748.1_Silent_p.S287S|ABCC11_ENST00000537808.1_Silent_p.S287S|ABCC11_ENST00000353782.5_Silent_p.S287S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	287	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AGATGACCAGCGATGCGCAGG	0.468000													27	114					0	0	0.030593	0	0
MECOM	2122	broad.mit.edu	37	3	168838896	168838896	+	Silent	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr3:168838896C>A	ENST00000464456.1	-	6	1716	c.516G>T	c.(514-516)tcG>tcT	p.S172S	MECOM_ENST00000472280.1_Silent_p.S173S|MECOM_ENST00000468789.1_Silent_p.S172S|MECOM_ENST00000460814.1_Silent_p.S172S|MECOM_ENST00000264674.3_Silent_p.S237S|MECOM_ENST00000433243.2_Silent_p.S173S|MECOM_ENST00000392736.3_Silent_p.S172S|MECOM_ENST00000494292.1_Silent_p.S360S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGAGGCCCGACGAAGTGGCAA	0.552000													19	39					5.03518e-11	5.59812e-11	0.043863	1	0
PKDREJ	10343	broad.mit.edu	37	22	46654890	46654890	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr22:46654890T>C	ENST00000253255.5	-	1	4329	c.4330A>G	c.(4330-4332)Ata>Gta	p.I1444V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1444					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAAAAAGTTATTAATAATTGC	0.378000													17	55					0	0	0.033300	0	0
TUBA3C	7278	broad.mit.edu	37	13	19755884	19755884	+	Splice_Site	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr13:19755884C>T	ENST00000400113.3	-	1	108		c.e1+1			NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c						'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCTGGCCTTACCATGTTGAGC	0.672000													17	11					0	0	0.033300	0	0
ZNF18	7566	broad.mit.edu	37	17	11895778	11895778	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr17:11895778G>A	ENST00000322748.3	-	4	973	c.369C>T	c.(367-369)ccC>ccT	p.P123P	ZNF18_ENST00000454073.3_Silent_p.P123P|ZNF18_ENST00000580306.1_Silent_p.P123P|ZNF18_ENST00000580613.1_Silent_p.P72P	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	123	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		ACAGTCTCTGGGGGTCCCCCT	0.532000													25	33					0	0	0.076483	0	0
ZNF750	79755	broad.mit.edu	37	17	80790065	80790065	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr17:80790065T>A	ENST00000269394.3	-	2	1099	c.266A>T	c.(265-267)aAg>aTg	p.K89M	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	89						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGCGACAGACTTGGAAGAGGC	0.557000													22	52					0	0	0.021523	0	0
TSTA3	7264	broad.mit.edu	37	8	144697068	144697068	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr8:144697068C>A	ENST00000425753.2	-	4	382	c.279G>T	c.(277-279)atG>atT	p.M93I	TSTA3_ENST00000529064.1_Missense_Mutation_p.M93I	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	93					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	CGTTGTCGTTCATGTGCACGT	0.607000													21	62					5.45024e-15	6.29415e-15	0.018920	1	0
SLC13A1	6561	broad.mit.edu	37	7	122808429	122808429	+	Splice_Site	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr7:122808429T>A	ENST00000194130.2	-	6	698	c.660_splice	c.e6+1	p.K220_splice	SLC13A1_ENST00000539873.1_Splice_Site_p.K156_splice	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	220						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TTTATGTACCTTTTCCAACTC	0.254000													11	9					0	0	0.020292	0	0
NUAK1	9891	broad.mit.edu	37	12	106461007	106461007	+	Missense_Mutation	SNP	C	C	T	rs117517173	byFrequency	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr12:106461007C>T	ENST00000261402.2	-	7	2938	c.1559G>A	c.(1558-1560)cGg>cAg	p.R520Q		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	520							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GCCCTTCCTCCGGCAGGAGAG	0.607000													4	96					0	0	0.021553	0	0
USH2A	7399	broad.mit.edu	37	1	216348641	216348641	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr1:216348641T>C	ENST00000366943.2	-	21	4966	c.4580A>G	c.(4579-4581)tAt>tGt	p.Y1527C	USH2A_ENST00000366942.3_Missense_Mutation_p.Y1527C|USH2A_ENST00000307340.3_Missense_Mutation_p.Y1527C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1527	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAATTTACAATACCCATTTCC	0.423000										HNSCC(13;0.011)			10	55					0	0	0.069234	0	0
SNX20	124460	broad.mit.edu	37	16	50709754	50709754	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr16:50709754C>A	ENST00000300590.3	-	3	381	c.209G>T	c.(208-210)cGc>cTc	p.R70L	SNX20_ENST00000423026.2_Missense_Mutation_p.R70L|SNX20_ENST00000330943.4_Missense_Mutation_p.R70L	NM_153337.2	NP_699168.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	70					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GTGCTTCCAGCGGCATTTCTG	0.522000													12	57					0.000978159	0.00101208	0.010729	1	0
FLT1	2321	broad.mit.edu	37	13	28896990	28896990	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr13:28896990C>T	ENST00000282397.4	-	21	3141	c.2890G>A	c.(2890-2892)Gaa>Aaa	p.E964K	FLT1_ENST00000540678.1_Missense_Mutation_p.E182K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	964	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCAAAGCTTTCGCTGCTGGTG	0.478000													4	109					0	0	0.009096	0	0
WDR7	23335	broad.mit.edu	37	18	54385258	54385258	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr18:54385258C>T	ENST00000254442.3	+	13	1853	c.1642C>T	c.(1642-1644)Cga>Tga	p.R548*	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Nonsense_Mutation_p.R548*	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	548										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TCTAAGTTTGCGAGAGAAAAA	0.408000													21	35					0	0	0.062417	0	0
FBXO44	93611	broad.mit.edu	37	1	11718615	11718615	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr1:11718615G>A	ENST00000376770.1	+	5	916	c.418G>A	c.(418-420)Gac>Aac	p.D140N	FBXO44_ENST00000376768.1_Missense_Mutation_p.G130E|FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000251547.5_Missense_Mutation_p.D140N|FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000376762.4_Intron	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	140	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGTGGTGGACCTCAAGGC	0.662000													24	5					0	0	0.018920	0	0
FREM2	341640	broad.mit.edu	37	13	39266020	39266020	+	Silent	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr13:39266020T>C	ENST00000280481.7	+	1	4755	c.4539T>C	c.(4537-4539)gaT>gaC	p.D1513D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1513					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AAGTCACCGATGGACGTAACC	0.453000													18	57					0	0	0.033300	0	0
OR6K2	81448	broad.mit.edu	37	1	158669969	158669969	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr1:158669969C>G	ENST00000359610.2	-	1	517	c.474G>C	c.(472-474)gaG>gaC	p.E158D		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TCCAGGCAATCTCAGGAAGGG	0.483000													11	45					0	0	0.010729	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACTATGTCGAAAAGTGTTT	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	25					0	0	0.024245	0	0
MTCP1	4515	broad.mit.edu	37	X	154294265	154294265	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chrX:154294265C>T	ENST00000369476.3	-	2	600	c.21G>A	c.(19-21)ggG>ggA	p.G7G	MTCP1_ENST00000482244.1_Intron|CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000362018.2_Silent_p.G7G	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	7					cell proliferation					large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGGTGGAGCCCCCACATCCT	0.572000			T	TRA@	T cell prolymphocytic leukemia								11	16					0	0	0.069234	0	0
RAD50	10111	broad.mit.edu	37	5	131915147	131915147	+	Silent	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr5:131915147A>G	ENST00000378823.3	+	4	905	c.87A>G	c.(85-87)gaA>gaG	p.E29E	RAD50_ENST00000265335.6_Silent_p.E168E	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	168					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTTAAGTGAAGGAAAGGCTT	0.348000								Homologous recombination					44	11					0	0	0.042209	0	0
PIN1	5300	broad.mit.edu	37	19	9959816	9959816	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr19:9959816G>A	ENST00000247970.4	+	4	455	c.433G>A	c.(433-435)Gag>Aag	p.E145K	PIN1_ENST00000588695.1_Missense_Mutation_p.E145K|PIN1_ENST00000380889.6_3'UTR	NM_006221.3	NP_006212.1	Q13526	PIN1_HUMAN	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	145	PpiC.				cell cycle|negative regulation of cell motility|negative regulation of ERK1 and ERK2 cascade|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation	nucleoplasm	GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding			skin(3)	3						GCGGACGGGGGAGATGAGCGG	0.687000													11	22					0	0	0.010729	0	0
UBXN2B	137886	broad.mit.edu	37	8	59352288	59352288	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr8:59352288G>A	ENST00000399598.2	+	6	752	c.630G>A	c.(628-630)ttG>ttA	p.L210L		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	210						cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						AACCTAGATTGAGGTTCAAGG	0.378000													6	65					0	0	0.021553	0	0
FSTL5	56884	broad.mit.edu	37	4	162307172	162307172	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr4:162307172G>A	ENST00000306100.5	-	16	2707	c.2271C>T	c.(2269-2271)taC>taT	p.Y757Y	FSTL5_ENST00000536695.1_Silent_p.Y756Y|FSTL5_ENST00000427802.2_Silent_p.Y747Y|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Silent_p.Y756Y	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	757						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTGAACTACCGTAGATGTTAT	0.418000													4	69					0	0	0.009096	0	0
SH3BGRL2	83699	broad.mit.edu	37	6	80406206	80406206	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr6:80406206A>T	ENST00000369838.4	+	3	415	c.236A>T	c.(235-237)tAt>tTt	p.Y79F		NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamic acid-rich protein like 2	79						nucleus	SH3 domain binding			large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		TTCTAGGATTATGACAGTTTT	0.308000													42	19					0	0	0.033182	0	0
PROM2	150696	broad.mit.edu	37	2	95947688	95947688	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr2:95947688G>A	ENST00000317620.9	+	13	1700	c.1567G>A	c.(1567-1569)Ggg>Agg	p.G523R	PROM2_ENST00000403131.2_Missense_Mutation_p.G523R|PROM2_ENST00000542147.1_Missense_Mutation_p.G523R|PROM2_ENST00000317668.4_Missense_Mutation_p.G523R	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	523						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AGACACCCCAGGGAACCTGCC	0.627000													19	39					0	0	0.055883	0	0
GPR152	390212	broad.mit.edu	37	11	67219165	67219165	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr11:67219165G>A	ENST00000312457.2	-	1	1035	c.1031C>T	c.(1030-1032)cCg>cTg	p.P344L		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	344						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P344L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CTCTGCCATCGGCTCTGGCAG	0.637000													12	31					0	0	0.010729	0	0
RIMBP2	23504	broad.mit.edu	37	12	130898786	130898786	+	Missense_Mutation	SNP	C	C	T	rs138034003		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr12:130898786C>T	ENST00000261655.4	-	14	2699	c.2536G>A	c.(2536-2538)Gaa>Aaa	p.E846K		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	846						cell junction|synapse		p.E846K(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGGAGCTCTTCGGCACCAGGG	0.567000													29	57					0	0	0.041601	0	0
ZNF276	92822	broad.mit.edu	37	16	89789220	89789220	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr16:89789220G>A	ENST00000289816.5	+	2	574	c.262G>A	c.(262-264)Ggt>Agt	p.G88S	ZNF276_ENST00000446326.2_5'UTR|ZNF276_ENST00000443381.2_Missense_Mutation_p.G163S|ZNF276_ENST00000568064.1_Missense_Mutation_p.G88S	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	163	ZAD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCCCCGGCTGGTCGCCGGAA	0.592000													7	45					0	0	0.010729	0	0
THAP5	168451	broad.mit.edu	37	7	108205290	108205290	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr7:108205290G>C	ENST00000415914.3	-	3	686	c.533C>G	c.(532-534)tCt>tGt	p.S178C	THAP5_ENST00000493722.1_5'UTR|THAP5_ENST00000313516.5_Missense_Mutation_p.S136C|THAP5_ENST00000438865.1_3'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	178					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						TTCCAAGGTAGATTCTGGTTT	0.348000													6	24					0	0	0.029380	0	0
SSFA2	6744	broad.mit.edu	37	2	182783567	182783567	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr2:182783567G>A	ENST00000431877.2	+	13	3130	c.2951G>A	c.(2950-2952)cGt>cAt	p.R984H	SSFA2_ENST00000320370.7_Missense_Mutation_p.R984H|SSFA2_ENST00000409136.1_Missense_Mutation_p.R493H|SSFA2_ENST00000409001.1_Missense_Mutation_p.R984H|SSFA2_ENST00000428267.2_Missense_Mutation_p.R831H	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	984						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GCAATGCTGCGTCAGCAAACC	0.383000													19	64					0	0	0.062417	0	0
PPP1R26	9858	broad.mit.edu	37	9	138376561	138376561	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr9:138376561G>A	ENST00000356818.2	+	4	754	c.205G>A	c.(205-207)Gca>Aca	p.A69T	PPP1R26_ENST00000605660.1_Missense_Mutation_p.A69T|PPP1R26_ENST00000401470.3_Missense_Mutation_p.A69T|PPP1R26_ENST00000605286.1_Missense_Mutation_p.A69T|PPP1R26_ENST00000604351.1_Missense_Mutation_p.A69T|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	69						nucleolus	protein binding										TGAGCGCGCCGCACAGAGGGG	0.706000													50	48					0	0	0.048971	0	0
PRSS48	345062	broad.mit.edu	37	4	152212572	152212572	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr4:152212572G>C	ENST00000455694.2	+	5	956	c.954G>C	c.(952-954)gaG>gaC	p.E318D	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Missense_Mutation_p.E175D	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	318					proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GCTGGGAAGAGAATGCATGGA	0.473000													16	6					0	0	0.033300	0	0
OPRD1	4985	broad.mit.edu	37	1	29185555	29185555	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr1:29185555G>A	ENST00000234961.2	+	2	559	c.317G>A	c.(316-318)aGt>aAt	p.S106N		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	106					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CCTTTCCAGAGTGCCAAGTAC	0.537000													52	20					0	0	0.048971	0	0
CCDC132	55610	broad.mit.edu	37	7	92979234	92979234	+	Nonstop_Mutation	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr7:92979234A>T	ENST00000541136.1	+	24	2343	c.1781A>T	c.(1780-1782)tAg>tTg	p.*594L	CCDC132_ENST00000535481.1_Silent_p.V504V|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000544910.1_Silent_p.V754V|CCDC132_ENST00000305866.5_Silent_p.V784V			Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	0										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTGGATTGTAGCTGGTAAAG	0.338000													17	88					0	0	0.038395	0	0
TP53	7157	broad.mit.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr17:7577574T>C	ENST00000420246.2	-	7	839	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000269305.4_Missense_Mutation_p.Y236C|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	236	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTTACACATGTAGTTGTAGTG	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			30	29					0	0	0.050027	0	0
FOXF2	2295	broad.mit.edu	37	6	1395022	1395022	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr6:1395022C>T	ENST00000259806.1	+	2	1377	c.1263C>T	c.(1261-1263)ccC>ccT	p.P421P		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	421					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CTTTCCATCCCTCAGCTAGCG	0.507000													25	45					0	0	0.021523	0	0
SLC7A11	23657	broad.mit.edu	37	4	139103507	139103507	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr4:139103507T>C	ENST00000280612.5	-	9	1339	c.1060A>G	c.(1060-1062)Atc>Gtc	p.I354V		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	354					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	ATGGAGAGGATTTCTGGAAGG	0.393000													16	8					0	0	0.033300	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215594	140215594	+	Silent	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr5:140215594G>T	ENST00000525929.1	+	1	1626	c.1626G>T	c.(1624-1626)gtG>gtT	p.V542V	PCDHA7_ENST00000378125.3_Silent_p.V542V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGGGCGTGCCGCCTCTGG	0.692000													51	67					8.72198e-27	1.04082e-26	0.048971	1	0
ZMAT1	84460	broad.mit.edu	37	X	101139651	101139651	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chrX:101139651A>T	ENST00000372782.3	-	7	795	c.748T>A	c.(748-750)Ttg>Atg	p.L250M	ZMAT1_ENST00000540921.1_Missense_Mutation_p.L250M|ZMAT1_ENST00000458570.1_Missense_Mutation_p.L79M|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	79						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CGGGTTTCCAAAGAACTCTCT	0.443000													39	53					0	0	0.027894	0	0
FREM2	341640	broad.mit.edu	37	13	39266021	39266021	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr13:39266021G>T	ENST00000280481.7	+	1	4756	c.4540G>T	c.(4540-4542)Gga>Tga	p.G1514*		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1514					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGTCACCGATGGACGTAACCC	0.448000													17	57					3.45872e-05	3.62053e-05	0.028581	1	0
ACSM4	341392	broad.mit.edu	37	12	7469736	7469736	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr12:7469736C>T	ENST00000399422.4	+	4	672	c.624C>T	c.(622-624)ttC>ttT	p.F208F		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	208					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.F208F(2)		endometrium(6)|kidney(1)|lung(14)	21						TTTGCAGATTCGCCTCTGAAG	0.483000													10	23					0	0	0.010729	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1963138	1963138	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr12:1963138G>A	ENST00000382722.5	-	23	2587	c.2225C>T	c.(2224-2226)gCg>gTg	p.A742V	CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A717V|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A678V|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A603V|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A678V|CACNA2D4_ENST00000539048.2_Intron|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A742V	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	742						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GAGGGCCAGCGCTGTCCAGTA	0.617000													4	15					0	0	0.014758	0	0
ATF7IP	55729	broad.mit.edu	37	12	14591118	14591118	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr12:14591118G>A	ENST00000544627.1	+	5	2190	c.1870G>A	c.(1870-1872)Gat>Aat	p.D624N	ATF7IP_ENST00000261168.4_Missense_Mutation_p.D616N|ATF7IP_ENST00000540793.1_Missense_Mutation_p.D616N|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D615N|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D615N			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	616	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TGCTGTATTTGATAAGACTTT	0.383000													10	36					0	0	0.058154	0	0
FAT1	2195	broad.mit.edu	37	4	187524462	187524462	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr4:187524462C>A	ENST00000441802.2	-	19	11427	c.11218G>T	c.(11218-11220)Gga>Tga	p.G3740*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3740					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAGTCCAGTCCCGCGCAGAGT	0.468000										HNSCC(5;0.00058)			17	8					0.00152264	0.00155744	0.055883	1	0
MST1L	11223	broad.mit.edu	37	1	17084510	17084510	+	RNA	SNP	G	G	A	rs61769731	by1000genomes	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr1:17084510G>A	ENST00000455405.2	-	0	379																		p.L525L(2)|p.L530L(2)									ACCCGCTGTAGGCCTGGCTCT	0.577000													3	45					0	0	0.004672	0	0
MRPL23	6150	broad.mit.edu	37	11	1973401	1973401	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr11:1973401A>G	ENST00000381514.3	+	3	207	c.185A>G	c.(184-186)aAc>aGc	p.N62S	MRPL23_ENST00000397294.3_Missense_Mutation_p.N62S|MRPL23_ENST00000397297.3_Missense_Mutation_p.N62S|MRPL23_ENST00000397298.3_Missense_Mutation_p.N62S|MRPL23_ENST00000381519.1_Missense_Mutation_p.N62S			Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	62					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGCATCTATAACGTGCCCGTG	0.552000													25	20					0	0	0.027356	0	0
GLCCI1	113263	broad.mit.edu	37	7	8126118	8126118	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr7:8126118G>A	ENST00000223145.5	+	8	2151	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	532										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GCTCCTGCAGGAACTGCAGGG	0.547000													49	152					0	0	0.048971	0	0
GABRB1	2560	broad.mit.edu	37	4	47428009	47428009	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr4:47428009G>T	ENST00000295454.3	+	9	1691	c.1399G>T	c.(1399-1401)Gtc>Ttc	p.V467F	GABRB1_ENST00000538619.1_Missense_Mutation_p.V397F	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	467					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTTTAATGTCGTCTATTGGCT	0.418000													46	27					8.04919e-23	9.47898e-23	0.048971	1	0
FAM208A	23272	broad.mit.edu	37	3	56667140	56667140	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr3:56667140C>T	ENST00000431842.2	-	11	3292	c.2368G>A	c.(2368-2370)Gtc>Atc	p.V790I	FAM208A_ENST00000355628.5_Missense_Mutation_p.V1166I|FAM208A_ENST00000493960.2_Missense_Mutation_p.V1227I	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	1227										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TTTTTCTGGACGTCTTTCATG	0.328000													30	18					0	0	0.030593	0	0
MCHR2	84539	broad.mit.edu	37	6	100382303	100382303	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr6:100382303C>A	ENST00000281806.2	-	5	992	c.678G>T	c.(676-678)gaG>gaT	p.E226D	MCHR2_ENST00000369212.1_Missense_Mutation_p.E226D|MCHR2_ENST00000445970.1_Missense_Mutation_p.E226D	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	226						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GTTGATACATCTCCCAAGTAT	0.308000													14	54					1.5842e-08	1.7397e-08	0.016723	1	0
PLEKHG5	57449	broad.mit.edu	37	1	6531696	6531696	+	Splice_Site	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr1:6531696A>T	ENST00000377748.1	-	13	1861	c.1362_splice	c.e13-1	p.V455_splice	PLEKHG5_ENST00000535355.1_Splice_Site_p.V447_splice|PLEKHG5_ENST00000377725.1_Splice_Site_p.V378_splice|PLEKHG5_ENST00000537245.1_Splice_Site_p.V457_splice|PLEKHG5_ENST00000340850.5_Splice_Site_p.V378_splice|PLEKHG5_ENST00000377737.2_Splice_Site_p.V378_splice|PLEKHG5_ENST00000400913.1_Splice_Site_p.V378_splice|PLEKHG5_ENST00000377728.3_Splice_Site_p.V378_splice|PLEKHG5_ENST00000544978.1_Splice_Site_p.V378_splice|PLEKHG5_ENST00000400915.3_Splice_Site_p.V434_splice|PLEKHG5_ENST00000377732.1_Splice_Site_p.V415_splice|PLEKHG5_ENST00000377740.3_Splice_Site_p.V455_splice	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	434	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CTCCGCCTCCACCTGGGCGCG	0.736000													5	0					0	0	0.014758	0	0
LAMA2	3908	broad.mit.edu	37	6	129637295	129637295	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr6:129637295G>A	ENST00000421865.2	+	27	4086	c.4037G>A	c.(4036-4038)gGa>gAa	p.G1346E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1346	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTACTTATGGAAATTTCATG	0.343000													14	15					0	0	0.024245	0	0
NUMB	8650	broad.mit.edu	37	14	73749071	73749071	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr14:73749071G>T	ENST00000556772.1	-	5	2947	c.660C>A	c.(658-660)ttC>ttA	p.F220L	NUMB_ENST00000555738.2_Missense_Mutation_p.F255L|NUMB_ENST00000359560.3_Missense_Mutation_p.F353L|NUMB_ENST00000555394.1_Missense_Mutation_p.F364L|NUMB_ENST00000555238.1_Missense_Mutation_p.F364L|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000535282.1_Missense_Mutation_p.F353L|NUMB_ENST00000356296.4_Missense_Mutation_p.F364L|NUMB_ENST00000355058.3_Missense_Mutation_p.F364L|NUMB_ENST00000454166.4_Missense_Mutation_p.F266L|NUMB_ENST00000560335.1_Missense_Mutation_p.F266L|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000557597.1_Missense_Mutation_p.F353L|NUMB_ENST00000554546.1_Missense_Mutation_p.F353L			P49757	NUMB_HUMAN	numb homolog (Drosophila)	364					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		accaaccttggaaggtaggag	0.512000													7	30					5.18039e-06	5.51958e-06	0.038147	1	0
KDELR1	10945	broad.mit.edu	37	19	48887692	48887692	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr19:48887692C>T	ENST00000597017.1	-	3	638	c.213G>A	c.(211-213)ccG>ccA	p.P71P	KDELR1_ENST00000330720.2_Silent_p.P133P			P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	133					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		TGAACAGCTGCGGCAAGATGG	0.582000													10	8					0	0	0.058154	0	0
GDAP1	54332	broad.mit.edu	37	8	75276509	75276509	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr8:75276509G>A	ENST00000220822.7	+	6	1064	c.984G>A	c.(982-984)ttG>ttA	p.L328L	GDAP1_ENST00000434412.2_Silent_p.L260L|GDAP1_ENST00000521096.1_3'UTR	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	328						cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TGGTTGGTTTGCTTGCAGGAG	0.433000													21	46					0	0	0.049695	0	0
ZNF511	118472	broad.mit.edu	37	10	135123687	135123687	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr10:135123687G>A	ENST00000359035.3	+	4	452	c.449G>A	c.(448-450)gGc>gAc	p.G150D	ZNF511_ENST00000361518.5_Missense_Mutation_p.G150D|ZNF511_ENST00000368554.4_Missense_Mutation_p.G85D|ZNF511_ENST00000463816.2_3'UTR			Q8NB15	ZN511_HUMAN	zinc finger protein 511	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		TTGGTAGAAGGCTGCACAGAG	0.582000													52	72					0	0	0.048971	0	0
ZEB2	9839	broad.mit.edu	37	2	145187516	145187516	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr2:145187516C>T	ENST00000558170.2	-	3	1335	c.151G>A	c.(151-153)Ggt>Agt	p.G51S	ZEB2_ENST00000303660.4_Missense_Mutation_p.G51S|ZEB2_ENST00000539609.3_Missense_Mutation_p.G51S|ZEB2_ENST00000409487.3_Missense_Mutation_p.G51S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	51						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTGGCAATACCGTCATCCTCA	0.502000													12	79					0	0	0.013537	0	0
ECE1	1889	broad.mit.edu	37	1	21585219	21585219	+	Silent	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr1:21585219G>C	ENST00000415912.2	-	6	806	c.681C>G	c.(679-681)gcC>gcG	p.A227A	ECE1_ENST00000436918.2_Silent_p.A243A|ECE1_ENST00000374893.6_Silent_p.A243A|ECE1_ENST00000357071.4_Silent_p.A231A|ECE1_ENST00000264205.6_Silent_p.A240A	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	243					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TCTTGGAATCGGCACTGACAT	0.572000													7	31					0	0	0.047766	0	0
DDX54	79039	broad.mit.edu	37	12	113599728	113599728	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr12:113599728C>G	ENST00000314045.7	-	18	2297	c.2270G>C	c.(2269-2271)cGc>cCc	p.R757P	DDX54_ENST00000306014.5_Missense_Mutation_p.R757P	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	757					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCTGATGTAGCGGCCGCTCTC	0.582000													48	92					0	0	0.048971	0	0
SCLT1	132320	broad.mit.edu	37	4	130014244	130014244	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr4:130014244G>C	ENST00000281142.5	-	1	518	c.15C>G	c.(13-15)atC>atG	p.I5M	SCLT1_ENST00000434680.1_Missense_Mutation_p.I5M|SCLT1_ENST00000503401.1_Intron|SCLT1_ENST00000506368.1_Missense_Mutation_p.I5M|SCLT1_ENST00000511426.1_Missense_Mutation_p.I5M|SCLT1_ENST00000439369.2_Missense_Mutation_p.I5M|SCLT1_ENST00000503215.1_De_novo_Start_InFrame	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	5						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TCAGAAAGTCGATTTCTGCAG	0.383000													29	15					0	0	0.050027	0	0
KEAP1	9817	broad.mit.edu	37	19	10600447	10600447	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr19:10600447G>A	ENST00000171111.5	-	4	1955	c.1408C>T	c.(1408-1410)Cgt>Tgt	p.R470C	KEAP1_ENST00000393623.2_Missense_Mutation_p.R470C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.R470C(3)|p.R470S(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TAAAGGAGACGATTGAGGACA	0.557000													16	13					0	0	0.033300	0	0
PWP2	5822	broad.mit.edu	37	21	45535281	45535281	+	Splice_Site	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr21:45535281G>A	ENST00000291576.7	+	6	733		c.e6+1			NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)							cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CAGCCTGGACGTATGTCCCTT	0.602000													28	84					0	0	0.030593	0	0
DPF3	8110	broad.mit.edu	37	14	73198527	73198527	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr14:73198527G>C	ENST00000541685.1	-	4	429	c.417C>G	c.(415-417)atC>atG	p.I139M	DPF3_ENST00000556509.1_Missense_Mutation_p.I139M|DPF3_ENST00000546183.1_Missense_Mutation_p.I149M	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	139					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GTATTTCCTGGATGCTTTCCT	0.577000													5	16					0	0	0.021553	0	0
MYO19	80179	broad.mit.edu	37	17	34863298	34863298	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr17:34863298G>C	ENST00000431794.3	-	16	1929	c.1407C>G	c.(1405-1407)aaC>aaG	p.N469K	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	469	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AACAGGGCTGGTTGTCCTGGT	0.542000													39	32					0	0	0.039052	0	0
AKR1C4	1109	broad.mit.edu	37	10	5247720	5247720	+	Splice_Site	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr10:5247720C>A	ENST00000380448.1	+	6	623	c.369_splice	c.e6-1	p.P124_splice	AKR1C4_ENST00000263126.1_Splice_Site_p.P124_splice			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	124					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	TCTACTTCAGCCAGGTGAGAC	0.448000													20	4					1.00905e-13	1.14316e-13	0.049695	1	0
DNAH1	25981	broad.mit.edu	37	3	52383302	52383302	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr3:52383302C>G	ENST00000420323.2	+	14	2653	c.2392C>G	c.(2392-2394)Ccc>Gcc	p.P798A		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	798	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCTCGCTGCCCAGCAGCAT	0.592000													20	8					0	0	0.049695	0	0
CYP3A5	1577	broad.mit.edu	37	7	99258197	99258197	+	Silent	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr7:99258197A>G	ENST00000343703.5	-	11	1307	c.921T>C	c.(919-921)acT>acC	p.T307T	CYP3A5_ENST00000222982.4_Silent_p.T317T|CYP3A5_ENST00000339843.2_3'UTR					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					GTTCATATAAAGTGAAGGAAA	0.473000													17	105					0	0	0.033300	0	0
HAUS6	54801	broad.mit.edu	37	9	19063008	19063008	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr9:19063008C>G	ENST00000380502.3	-	14	2094	c.1627G>C	c.(1627-1629)Gag>Cag	p.E543Q	HAUS6_ENST00000380496.1_Missense_Mutation_p.E407Q	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	543					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		p.E543K(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTTCTCACCTCTTCTACCAGA	0.413000													43	138					0	0	0.036044	0	0
ZNF451	26036	broad.mit.edu	37	6	56997884	56997884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr6:56997884C>T	ENST00000370706.4	+	6	713	c.469C>T	c.(469-471)Cga>Tga	p.R157*	RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Nonsense_Mutation_p.R157*|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.R157*	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAGTTCATTCCGAAGAGGAGG	0.393000													15	44					0	0	0.024245	0	0
ERBB2	2064	broad.mit.edu	37	17	37865676	37865676	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr17:37865676C>T	ENST00000406381.2	+	6	965	c.455C>T	c.(454-456)aCa>aTa	p.T152I	ERBB2_ENST00000578199.1_Missense_Mutation_p.T152I|ERBB2_ENST00000540147.1_Missense_Mutation_p.T152I|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000541774.1_Missense_Mutation_p.T167I|ERBB2_ENST00000540042.1_Missense_Mutation_p.T152I|ERBB2_ENST00000584601.1_Missense_Mutation_p.T152I|ERBB2_ENST00000584450.1_Missense_Mutation_p.T182I|ERBB2_ENST00000269571.5_Missense_Mutation_p.T182I	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	182					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CTGGCTCTCACACTGATAGAC	0.562000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			14	36					0	0	0.020292	0	0
IL6	3569	broad.mit.edu	37	7	22766989	22766989	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr7:22766989G>A	ENST00000420258.2	+	1	171	c.108G>A	c.(106-108)gcG>gcA	p.A36A	IL6_ENST00000401630.3_Intron|IL6_ENST00000258743.5_Intron|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000407492.1_Intron|IL6_ENST00000406575.1_Intron|IL6_ENST00000401651.1_Intron|IL6_ENST00000404625.1_Intron			P05231	IL6_HUMAN	interleukin 6 (interferon, beta 2)	0					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	GAGGGCTGGCGGGCGGCCAGC	0.677000											OREG0017891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	6					0	0	0.016723	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													6	122					0	0	0.021553	0	0
KLK4	9622	broad.mit.edu	37	19	51411651	51411651	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr19:51411651G>T	ENST00000324041.1	-	4	575	c.576C>A	c.(574-576)tgC>tgA	p.C192*	KLK4_ENST00000431178.2_Intron	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	192	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CTCCGCCGGCGCAGAACATGC	0.622000													56	52					6.3091e-27	7.57939e-27	0.048971	1	0
PLCH1	23007	broad.mit.edu	37	3	155199373	155199373	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr3:155199373G>T	ENST00000460012.1	-	23	4709	c.4352C>A	c.(4351-4353)cCt>cAt	p.P1451H	PLCH1_ENST00000334686.6_Missense_Mutation_p.P1451H|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.P1451H|PLCH1_ENST00000340059.7_Missense_Mutation_p.P1489H|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1489					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGATTTGCAAGGACTAGGCAG	0.468000													13	59					6.31663e-08	6.89437e-08	0.024245	1	0
ITPRIPL1	150771	broad.mit.edu	37	2	96993685	96993685	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr2:96993685C>T	ENST00000361124.4	+	1	1751	c.1340C>T	c.(1339-1341)gCa>gTa	p.A447V	ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.A431V|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.A439V|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.A431V	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	439						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCCATGGAGCATCCCGCCCC	0.562000													42	67					0	0	0.036044	0	0
NUMBL	9253	broad.mit.edu	37	19	41188693	41188693	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr19:41188693G>A	ENST00000252891.4	-	5	506	c.339C>T	c.(337-339)tcC>tcT	p.S113S	NUMBL_ENST00000598779.1_Silent_p.S72S|NUMBL_ENST00000540131.1_Silent_p.S72S	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	113	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	p.S113S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CAGACTTCACGGACTTTCGGC	0.652000													17	133					0	0	0.038395	0	0
KIF1A	547	broad.mit.edu	37	2	241706365	241706365	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr2:241706365C>T	ENST00000498729.2	-	19	1897	c.1651G>A	c.(1651-1653)Gtc>Atc	p.V551I	KIF1A_ENST00000320389.7_Missense_Mutation_p.V542I	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	542	FHA.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTCCGGAAGACGCAGTGCTCC	0.637000													4	8					0	0	0.009096	0	0
ASB4	51666	broad.mit.edu	37	7	95157520	95157520	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr7:95157520G>C	ENST00000325885.5	+	3	954	c.883G>C	c.(883-885)Gtc>Ctc	p.V295L	ASB4_ENST00000428113.1_Missense_Mutation_p.V295L	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	295					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CGTGCTGAAGGTCACCTCCGT	0.572000											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	51					0	0	0.058154	0	0
COL24A1	255631	broad.mit.edu	37	1	86590952	86590952	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr1:86590952A>C	ENST00000370571.2	-	3	1433	c.1067T>G	c.(1066-1068)aTc>aGc	p.I356S	COL24A1_ENST00000436319.1_Missense_Mutation_p.I356S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	356					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGCCTCACTGATGCGATGAGT	0.418000													25	19					0	0	0.021523	0	0
PDCL	5082	broad.mit.edu	37	9	125585430	125585430	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr9:125585430C>G	ENST00000259467.4	-	3	384	c.219G>C	c.(217-219)gaG>gaC	p.E73D		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	73					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TCTGCTCTGTCTCCAACTGCT	0.537000													29	124					0	0	0.034045	0	0
CCDC57	284001	broad.mit.edu	37	17	80121141	80121141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr17:80121141C>T	ENST00000392347.1	-	13	2011	c.1975G>A	c.(1975-1977)Gca>Aca	p.A659T	CCDC57_ENST00000392343.3_Missense_Mutation_p.A659T|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000389641.4_Missense_Mutation_p.A659T	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	659										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TTCCTGAGTGCCAGTCCAGAG	0.587000													4	119					0	0	0.009096	0	0
USP22	23326	broad.mit.edu	37	17	20924462	20924462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr17:20924462C>T	ENST00000261497.4	-	3	585	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Missense_Mutation_p.A116T	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	128					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						TCCTCCTTGGCGATTATTTCC	0.483000													18	28					0	0	0.033300	0	0
ZNF707	286075	broad.mit.edu	37	8	144776666	144776666	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr8:144776666G>A	ENST00000532205.1	+	8	1981	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	ZNF707_ENST00000418203.2_Missense_Mutation_p.R361Q|ZNF707_ENST00000532158.1_Missense_Mutation_p.R361Q|ZNF707_ENST00000454097.1_Missense_Mutation_p.R361Q|ZNF707_ENST00000358656.4_Missense_Mutation_p.R361Q			Q96C28	ZN707_HUMAN	zinc finger protein 707	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TTCTTCACGCGGCATCAGAGG	0.647000													25	16					0	0	0.027356	0	0
GPR141	353345	broad.mit.edu	37	7	37780320	37780320	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr7:37780320A>G	ENST00000447769.1	+	4	614	c.325A>G	c.(325-327)Atc>Gtc	p.I109V	GPR141_ENST00000334425.1_Missense_Mutation_p.I109V|GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	109						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTATGTGGTGATCCTGGTCAC	0.483000													17	58					0	0	0.033300	0	0
ZNF100	163227	broad.mit.edu	37	19	21948566	21948566	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr19:21948566C>T	ENST00000358296.6	-	2	224	c.26G>A	c.(25-27)tGt>tAt	p.C9Y	ZNF100_ENST00000596452.1_5'UTR	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						CTTGAGAGGACACATTCCATA	0.468000													17	45					0	0	0.038395	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530203	80530203	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr2:80530203C>T	ENST00000295057.3	-	2	1398	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	LRRTM1_ENST00000409148.1_Missense_Mutation_p.V248M|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	248						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GAGCTGACCACAATGGCCACC	0.592000										HNSCC(69;0.2)			18	55					0	0	0.038395	0	0
ERN1	2081	broad.mit.edu	37	17	62126509	62126509	+	Silent	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr17:62126509A>T	ENST00000433197.2	-	18	2402	c.2307T>A	c.(2305-2307)tcT>tcA	p.S769S		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	769	Protein kinase.		S -> F (in a glioblastoma multiforme sample; somatic mutation).		activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GGCTGCCCTCAGAGATTACGT	0.557000													18	23					0	0	0.055883	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011784	160011784	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr1:160011784C>T	ENST00000368089.3	-	2	765	c.539G>A	c.(538-540)cGt>cAt	p.R180H	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	180						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGCTGAAACGAATGGTCTC	0.562000													67	84					0	0	0.048971	0	0
IMPG2	50939	broad.mit.edu	37	3	101038496	101038496	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr3:101038496A>T	ENST00000193391.7	-	2	453	c.266T>A	c.(265-267)gTg>gAg	p.V89E		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	89					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCAGATTTTCACTCCATTAGG	0.433000													67	30					0	0	0.048971	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58357778	58357778	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr15:58357778T>C	ENST00000249750.4	-	1	838	c.71A>G	c.(70-72)cAc>cGc	p.H24R	ALDH1A2_ENST00000558231.1_Intron|ALDH1A2_ENST00000537372.1_5'UTR|CTD-2330J20.2_ENST00000559684.1_RNA|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.H24R	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	24					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	p.H24L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CGGCAGGAGGTGCAGCGACGC	0.652000													9	35					0	0	0.047766	0	0
ZHX3	23051	broad.mit.edu	37	20	39832157	39832157	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr20:39832157G>A	ENST00000309060.3	-	4	1815	c.1400C>T	c.(1399-1401)aCg>aTg	p.T467M	ZHX3_ENST00000432768.2_Missense_Mutation_p.T467M|ZHX3_ENST00000559234.1_Missense_Mutation_p.T467M|ZHX3_ENST00000560361.1_Missense_Mutation_p.T467M|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.T467M|ZHX3_ENST00000540170.1_Missense_Mutation_p.T467M			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	467	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CACAGCTGACGTTGTATTTGA	0.542000													6	20					0	0	0.021553	0	0
FAT1	2195	broad.mit.edu	37	4	187524463	187524463	+	Silent	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr4:187524463C>A	ENST00000441802.2	-	19	11426	c.11217G>T	c.(11215-11217)gcG>gcT	p.A3739A		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3739					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGTCCAGTCCCGCGCAGAGTT	0.463000										HNSCC(5;0.00058)			17	8					0.00152264	0.00155744	0.055883	1	0
MMP12	4321	broad.mit.edu	37	11	102734976	102734976	+	RNA	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr11:102734976C>T	ENST00000532855.1	-	0	1308							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGTCTCCTTTCATCATACCTG	0.448000													5	21					0	0	0.021553	0	0
PTPRR	5801	broad.mit.edu	37	12	71078046	71078046	+	Splice_Site	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr12:71078046T>A	ENST00000283228.2	-	10	1812		c.e10-2		PTPRR_ENST00000440835.2_Splice_Site|PTPRR_ENST00000378778.1_Splice_Site|PTPRR_ENST00000342084.4_Splice_Site|PTPRR_ENST00000549308.1_Splice_Site	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ACTGTAGCCCTAGATGGAGTA	0.453000													14	27					0	0	0.024245	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135911438	135911438	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr2:135911438G>A	ENST00000264158.8	+	19	2324	c.2281G>A	c.(2281-2283)Gca>Aca	p.A761T	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A761T|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A717T	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	761						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TACACGGGAAGCAGAAAAGGT	0.418000													5	36					0	0	0.029380	0	0
MGAM	8972	broad.mit.edu	37	7	141734603	141734603	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr7:141734603C>A	ENST00000475668.2	+	16	1975	c.1921C>A	c.(1921-1923)Cct>Act	p.P641T	MGAM_ENST00000549489.2_Missense_Mutation_p.P641T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	641	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGGTCCATCCCTGGCGTGCT	0.507000													23	24					3.28513e-13	3.69835e-13	0.021523	1	0
TRPM3	80036	broad.mit.edu	37	9	73164503	73164503	+	Missense_Mutation	SNP	C	C	A	rs139956868	by1000genomes	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr9:73164503C>A	ENST00000377110.2	-	24	3869	c.3626G>T	c.(3625-3627)cGg>cTg	p.R1209L	TRPM3_ENST00000396285.1_Missense_Mutation_p.R1068L|TRPM3_ENST00000377106.1_Missense_Mutation_p.R1081L|TRPM3_ENST00000408909.2_Missense_Mutation_p.R1068L|TRPM3_ENST00000360823.2_Missense_Mutation_p.R1071L|TRPM3_ENST00000357533.2_Missense_Mutation_p.R1213L|TRPM3_ENST00000396292.4_Missense_Mutation_p.R1081L|TRPM3_ENST00000377105.1_Missense_Mutation_p.R1068L|TRPM3_ENST00000396280.5_Missense_Mutation_p.R1058L|TRPM3_ENST00000377111.2_Missense_Mutation_p.R1209L|TRPM3_ENST00000423814.3_Missense_Mutation_p.R1236L|TRPM3_ENST00000358082.3_Missense_Mutation_p.R1071L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1234						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGAGTTGAACCGATCATCCTT	0.423000													30	27					2.61193e-14	2.99702e-14	0.041601	1	0
ZNF572	137209	broad.mit.edu	37	8	125990080	125990080	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr8:125990080G>A	ENST00000319286.5	+	3	1724	c.1570G>A	c.(1570-1572)Gtc>Atc	p.V524I		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTCATTTTCCGTCTCAAATTC	0.428000										HNSCC(60;0.17)			39	49					0	0	0.080422	0	0
FAM86C2P	645332	broad.mit.edu	37	11	67560591	67560591	+	RNA	SNP	G	G	A	rs11227961		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr11:67560591G>A	ENST00000528089.1	-	0	1159																											AGTTTTATCCGCTTTCCCATA	0.413000													3	23					0	0	0.014758	0	0
COL4A5	1287	broad.mit.edu	37	X	107865911	107865911	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chrX:107865911G>A	ENST00000328300.6	+	33	3017	c.2773G>A	c.(2773-2775)Gat>Aat	p.D925N	COL4A5_ENST00000361603.2_Missense_Mutation_p.D925N	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	925	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTAGGTGATGATGGCTTGCA	0.413000									Alport syndrome with Diffuse Leiomyomatosis				19	40					0	0	0.021523	0	0
DHX33	56919	broad.mit.edu	37	17	5365857	5365857	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr17:5365857T>C	ENST00000225296.3	-	3	660	c.460A>G	c.(460-462)Aca>Gca	p.T154A	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	154	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGCGCACTGTATAGCCAACC	0.478000													18	60					0	0	0.038395	0	0
AP3D1	8943	broad.mit.edu	37	19	2121212	2121212	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr19:2121212G>A	ENST00000355272.6	-	13	1406	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000350812.6_Silent_p.I231I|AP3D1_ENST00000345016.5_Silent_p.I400I|AP3D1_ENST00000356926.4_Silent_p.I309I	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	400					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATGTCAATGATCTTGGTGA	0.582000													26	26					0	0	0.034045	0	0
PIK3CG	5294	broad.mit.edu	37	7	106523581	106523581	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr7:106523581C>T	ENST00000359195.3	+	8	3043	c.2733C>T	c.(2731-2733)ctC>ctT	p.L911L	PIK3CG_ENST00000496166.1_Silent_p.L911L|PIK3CG_ENST00000440650.2_Silent_p.L911L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	911	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ATCACTGGCTCAAAGAAAAAT	0.428000													5	153					0	0	0.014758	0	0
C21orf58	54058	broad.mit.edu	37	21	47737166	47737166	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr21:47737166C>A	ENST00000291691.7	-	3	1462	c.326G>T	c.(325-327)cGg>cTg	p.R109L	C21orf58_ENST00000397683.1_5'UTR|C21orf58_ENST00000397685.4_Missense_Mutation_p.R26L|C21orf58_ENST00000397679.1_5'UTR|C21orf58_ENST00000397680.1_5'UTR|C21orf58_ENST00000397682.3_5'UTR	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	109										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		CACGTTCTGCCGTTCTTGCTC	0.597000													10	9					0.000673444	0.000700852	0.069234	1	0
CSPP1	79848	broad.mit.edu	37	8	68076024	68076024	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr8:68076024C>T	ENST00000262210.5	+	21	2717	c.2686C>T	c.(2686-2688)Cgt>Tgt	p.R896C	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.R551C	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	931						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAATCAGCTCCGTGCAGAAGG	0.383000													11	27					0	0	0.010729	0	0
UBAP2	55833	broad.mit.edu	37	9	33943473	33943473	+	Missense_Mutation	SNP	G	G	T	rs147087482		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr9:33943473G>T	ENST00000379238.1	-	15	1777	c.1660C>A	c.(1660-1662)Cca>Aca	p.P554T	UBAP2_ENST00000379239.4_Missense_Mutation_p.P287T|UBAP2_ENST00000379225.1_Missense_Mutation_p.P187T|UBAP2_ENST00000360802.1_Missense_Mutation_p.P554T|UBAP2_ENST00000449054.1_Missense_Mutation_p.P554T|UBAP2_ENST00000539807.1_Missense_Mutation_p.P309T|UBAP2_ENST00000418786.2_Missense_Mutation_p.P501T			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	554										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCACTGCTTGGAGCTGATCCA	0.408000													17	67					3.70931e-20	4.33966e-20	0.038395	1	0
VPS37C	55048	broad.mit.edu	37	11	60901634	60901634	+	Missense_Mutation	SNP	G	G	A	rs144006897		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr11:60901634G>A	ENST00000301765.5	-	3	371	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	47					cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GCCAGGCTCCGGTTGGTGGCC	0.582000													22	62					0	0	0.062417	0	0
PTPRB	5787	broad.mit.edu	37	12	70925945	70925945	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr12:70925945C>A	ENST00000334414.6	-	32	6418	c.6374G>T	c.(6373-6375)gGt>gTt	p.G2125V	PTPRB_ENST00000550358.1_Missense_Mutation_p.G2037V|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.G1817V|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000451516.2_Missense_Mutation_p.G1817V|PTPRB_ENST00000538708.1_Missense_Mutation_p.G1817V|RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000261266.5_Missense_Mutation_p.G1907V|RP11-588H23.3_ENST00000548687.1_RNA	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1907					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCTACCCACACCAGCACTAGA	0.433000													11	28					5.50884e-06	5.8348e-06	0.013537	1	0
GAPVD1	26130	broad.mit.edu	37	9	128092450	128092450	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr9:128092450A>G	ENST00000470056.1	+	11	2286	c.2126A>G	c.(2125-2127)gAg>gGg	p.E709G	GAPVD1_ENST00000312123.9_Missense_Mutation_p.E688G|GAPVD1_ENST00000265956.4_Missense_Mutation_p.E709G|GAPVD1_ENST00000394083.2_Missense_Mutation_p.E688G|GAPVD1_ENST00000495955.1_Missense_Mutation_p.E709G|GAPVD1_ENST00000297933.6_Missense_Mutation_p.E709G|GAPVD1_ENST00000394105.2_Missense_Mutation_p.E709G|GAPVD1_ENST00000394104.2_Missense_Mutation_p.E709G			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	709					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACCATATCAGAGACAACAAGT	0.433000													32	98					0	0	0.054565	0	0
GIGYF1	64599	broad.mit.edu	37	7	100285665	100285665	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr7:100285665T>G	ENST00000275732.5	-	2	1313	c.104A>C	c.(103-105)aAg>aCg	p.K35T	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	35										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTCAGCCAGCTTGTATTTGGG	0.642000													26	95					0	0	0.021523	0	0
FAM181B	220382	broad.mit.edu	37	11	82444616	82444616	+	Silent	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr11:82444616C>A	ENST00000329203.3	-	1	290	c.156G>T	c.(154-156)tcG>tcT	p.S52S		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	52										large_intestine(1)|lung(2)|prostate(1)	4						CTTCGGCTCCCGACAGCAGCG	0.692000													8	11					7.48243e-07	8.02009e-07	0.058154	1	0
PFAS	5198	broad.mit.edu	37	17	8170695	8170695	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr17:8170695C>T	ENST00000314666.6	+	25	3314	c.3181C>T	c.(3181-3183)Ccc>Tcc	p.P1061S	PFAS_ENST00000545834.1_Missense_Mutation_p.P637S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1061					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCAAGGTGGTCCCAGCCCCCG	0.607000													70	110					0	0	0.048971	0	0
ZNF208	7757	broad.mit.edu	37	19	22155123	22155123	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr19:22155123T>G	ENST00000397126.4	-	4	2861	c.2713A>C	c.(2713-2715)Act>Cct	p.T905P	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCATGTTTAGTAAGGATGGAG	0.378000													8	28					0	0	0.047766	0	0
TRIML2	205860	broad.mit.edu	37	4	189022227	189022227	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr4:189022227A>G	ENST00000512729.1	-	3	687	c.313T>C	c.(313-315)Ttc>Ctc	p.F105L	TRIML2_ENST00000326754.3_Missense_Mutation_p.F105L|TRIML2_ENST00000536972.1_Missense_Mutation_p.F155L	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	105							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ATTTCCTGGAACATCTCCTCT	0.398000													11	15					0	0	0.010729	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906887	164906887	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr3:164906887C>T	ENST00000475390.1	-	2	2175	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	SLITRK3_ENST00000241274.3_Missense_Mutation_p.E578K			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	578	LRRCT 2.					integral to membrane		p.E578K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTGATGGTTTCGATCCACTGT	0.517000										HNSCC(40;0.11)			6	69					0	0	0.038147	0	0
SUN5	140732	broad.mit.edu	37	20	31583478	31583478	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr20:31583478T>A	ENST00000356173.3	-	8	573	c.481A>T	c.(481-483)Agc>Tgc	p.S161C	SUN5_ENST00000375523.3_Missense_Mutation_p.S136C	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	161					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TGGTTCATGCTACCTCGGAGG	0.493000													44	246					0	0	0.048971	0	0
PLCZ1	89869	broad.mit.edu	37	12	18872484	18872484	+	Silent	SNP	A	A	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr12:18872484A>G	ENST00000266505.7	-	5	713	c.450T>C	c.(448-450)tgT>tgC	p.C150C	PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000539875.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000541695.1_Silent_p.C13C|PLCZ1_ENST00000447925.2_Silent_p.C148C			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	150					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AAACTTTTCTACATTCATTTT	0.279000													3	17					0	0	0.004672	0	0
MAST4	375449	broad.mit.edu	37	5	66426148	66426148	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr5:66426148G>A	ENST00000404260.3	+	15	2173	c.1865G>A	c.(1864-1866)cGg>cAg	p.R622Q	MAST4_ENST00000261569.7_Missense_Mutation_p.R425Q|MAST4_ENST00000403666.1_Missense_Mutation_p.R430Q|MAST4_ENST00000403625.2_Missense_Mutation_p.R619Q|MAST4_ENST00000405643.1_Missense_Mutation_p.R440Q			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	622	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTTGTGGAGCGGGATATCCTG	0.458000													20	19					0	0	0.062417	0	0
BSN	8927	broad.mit.edu	37	3	49689861	49689861	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr3:49689861C>T	ENST00000296452.4	+	5	2986	c.2872C>T	c.(2872-2874)Cgg>Tgg	p.R958W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	958					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAGTCTGGACCGGGAGCCTGA	0.622000													43	14					0	0	0.039052	0	0
SUMF1	285362	broad.mit.edu	37	3	4494724	4494724	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr3:4494724T>C	ENST00000272902.5	-	2	315	c.280A>G	c.(280-282)Atc>Gtc	p.I94V	SUMF1_ENST00000405420.2_Missense_Mutation_p.I94V|SUMF1_ENST00000458465.2_Missense_Mutation_p.I94V|SUMF1_ENST00000534863.1_Missense_Mutation_p.I94V|SUMF1_ENST00000383843.5_Missense_Mutation_p.I94V	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	94						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CCAGCAGGGATGGGGACCATC	0.488000													5	11					0	0	0.014758	0	0
CACNG4	27092	broad.mit.edu	37	17	65026643	65026643	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr17:65026643C>A	ENST00000262138.3	+	4	509	c.507C>A	c.(505-507)gaC>gaA	p.D169E		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	169					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			ACCCGAGTGACAAGCGGGACG	0.547000													35	72					2.68265e-12	3.00122e-12	0.054565	1	0
NXF5	55998	broad.mit.edu	37	X	101092763	101092763	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chrX:101092763T>A	ENST00000537026.1	-	14	1269	c.910A>T	c.(910-912)Aaa>Taa	p.K304*	NXF5_ENST00000473265.2_Nonsense_Mutation_p.K304*|NXF5_ENST00000361708.2_Nonsense_Mutation_p.K304*	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	304	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CAGGGGTCTTTGAGAATTTTT	0.507000													94	23					0	0	0.048971	0	0
TMUB2	79089	broad.mit.edu	37	17	42266692	42266692	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr17:42266692C>T	ENST00000319511.6	+	2	928	c.278C>T	c.(277-279)gCg>gTg	p.A93V	TMUB2_ENST00000592825.1_Intron|TMUB2_ENST00000587989.1_Missense_Mutation_p.A113V|TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000590235.1_Intron|TMUB2_ENST00000589785.1_Missense_Mutation_p.A93V|TMUB2_ENST00000357984.3_Missense_Mutation_p.A93V|TMUB2_ENST00000589856.1_Missense_Mutation_p.A93V|TMUB2_ENST00000446571.3_Intron|TMUB2_ENST00000538716.2_Missense_Mutation_p.A113V|TMUB2_ENST00000589184.1_Intron	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	113						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCTGAAGAGGCGGGTGAAGGT	0.612000													3	54					0	0	0.004672	0	0
PF4V1	5197	broad.mit.edu	37	4	74719102	74719102	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr4:74719102G>A	ENST00000226524.3	+	1	197	c.23G>A	c.(22-24)cGc>cAc	p.R8H		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	8					immune response	extracellular region	chemokine activity|heparin binding			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GCCAGGTCCCGCCTCACCCGC	0.652000													3	11					0	0	0.004672	0	0
DIDO1	11083	broad.mit.edu	37	20	61512534	61512534	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr20:61512534C>T	ENST00000266070.4	-	16	5099	c.4774G>A	c.(4774-4776)Gag>Aag	p.E1592K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1592K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1592					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCATCTCTCTCGGGCAGGGCA	0.711000													13	15					0	0	0.016723	0	0
MAP2K3	5606	broad.mit.edu	37	17	21215472	21215472	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr17:21215472C>T	ENST00000342679.4	+	10	1042	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	MAP2K3_ENST00000361818.5_Missense_Mutation_p.R236W|MAP2K3_ENST00000316920.6_Missense_Mutation_p.R236W	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	265	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GGCCATCCTGCGGTTCCCTTA	0.677000													4	48					0	0	0.014758	0	0
EFTUD2	9343	broad.mit.edu	37	17	42940103	42940103	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr17:42940103G>A	ENST00000426333.2	-	16	1882	c.1585C>T	c.(1585-1587)Cgc>Tgc	p.R529C	EFTUD2_ENST00000402521.3_Missense_Mutation_p.R494C|EFTUD2_ENST00000592576.1_Missense_Mutation_p.R519C|EFTUD2_ENST00000591382.1_Missense_Mutation_p.R529C	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	529						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				ATCCAAAGGCGGCCCACGGTG	0.597000													3	24					0	0	0.004672	0	0
PIGR	5284	broad.mit.edu	37	1	207105858	207105858	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr1:207105858G>A	ENST00000356495.4	-	8	2134	c.1951C>T	c.(1951-1953)Ctg>Ttg	p.L651L		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	651						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCCACTGCCAGCACCAGGCCC	0.637000													47	65					0	0	0.048971	0	0
F13B	2165	broad.mit.edu	37	1	197032145	197032145	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr1:197032145G>A	ENST00000367412.1	-	2	150	c.107C>T	c.(106-108)gCc>gTc	p.A36V		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	36	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GTAATATTGGGCAATTCTTCC	0.323000													39	250					0	0	0.042209	0	0
FGD2	221472	broad.mit.edu	37	6	36993640	36993640	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr6:36993640C>T	ENST00000274963.8	+	14	1702	c.1531C>T	c.(1531-1533)Ctc>Ttc	p.L511F		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	511					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CCGAGTCTGCCTCCACTGCTA	0.622000													36	7					0	0	0.059317	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307562	39307562	+	Missense_Mutation	SNP	C	C	T	rs3732380	by1000genomes	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr3:39307562C>T	ENST00000541347.1	-	2	678	c.439G>A	c.(439-441)Gtc>Atc	p.V147I	CX3CR1_ENST00000358309.3_Missense_Mutation_p.V179I|CX3CR1_ENST00000542107.1_Missense_Mutation_p.V147I|CX3CR1_ENST00000399220.2_Missense_Mutation_p.V147I	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	147			V -> I (in dbSNP:rs3732380).		cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CTGATGGTGACGCCATGCTGC	0.527000													4	48					0	0	0.009096	0	0
CCHCR1	54535	broad.mit.edu	37	6	31113227	31113227	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr6:31113227C>G	ENST00000396268.3	-	12	1925	c.1737G>C	c.(1735-1737)gaG>gaC	p.E579D	CCHCR1_ENST00000451521.2_Missense_Mutation_p.E543D|CCHCR1_ENST00000376266.5_Missense_Mutation_p.E490D|CCHCR1_ENST00000396263.2_Intron	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	490					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AACTTCACCTCTCCTGGCGCA	0.557000													6	31					0	0	0.069234	0	0
ATP8B4	79895	broad.mit.edu	37	15	50273431	50273431	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr15:50273431T>G	ENST00000284509.6	-	11	950	c.809A>C	c.(808-810)gAt>gCt	p.D270A	ATP8B4_ENST00000559829.1_Missense_Mutation_p.D270A|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	270					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CATCAATCTATCAATGCTTGT	0.308000													6	33					0	0	0.021553	0	0
MFGE8	4240	broad.mit.edu	37	15	89449094	89449094	+	Silent	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr15:89449094G>A	ENST00000539437.1	-	6	691	c.555C>T	c.(553-555)gtC>gtT	p.V185V	MFGE8_ENST00000268150.8_Silent_p.V193V|MFGE8_ENST00000566497.1_Silent_p.V193V|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000542878.1_Silent_p.V149V|MFGE8_ENST00000268151.7_Silent_p.V193V			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	193	F5/8 type C 1.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CAAACAGGTTGACATGCACCG	0.582000													22	62					0	0	0.024334	0	0
CBLB	868	broad.mit.edu	37	3	105456100	105456100	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr3:105456100T>C	ENST00000264122.4	-	8	1307	c.986A>G	c.(985-987)tAt>tGt	p.Y329C	CBLB_ENST00000403724.1_Missense_Mutation_p.Y329C|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Missense_Mutation_p.Y329C|CBLB_ENST00000394027.3_Missense_Mutation_p.Y351C	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	329	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AGGATAAAGATAACTGAATTT	0.279000			Mis S		AML								25	15					0	0	0.030593	0	0
ACBD6	84320	broad.mit.edu	37	1	180399399	180399399	+	Splice_Site	SNP	T	T	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr1:180399399T>A	ENST00000367595.3	-	4	1072		c.e4-2			NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6							cytoplasm|nucleus	fatty-acyl-CoA binding		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						CTCTGGTATCTGTGGGAAGGA	0.323000													13	88					0	0	0.016723	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580973	140580973	+	Silent	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr5:140580973C>T	ENST00000354757.3	+	1	1626	c.1626C>T	c.(1624-1626)agC>agT	p.S542S	PCDHB11_ENST00000536699.1_Silent_p.S177S	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		542	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCTTTGAGCAGCGAGGCGC	0.692000													31	21					0	0	0.042209	0	0
ZACN	353174	broad.mit.edu	37	17	74077642	74077642	+	Missense_Mutation	SNP	C	C	T	rs140656208	by1000genomes	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr17:74077642C>T	ENST00000334586.5	+	7	769	c.686C>T	c.(685-687)aCg>aTg	p.T229M	EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	229	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CTGAAGAACACGGCGCTCAAG	0.662000													30	83					0	0	0.045705	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423172	47423172	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr19:47423172C>T	ENST00000404338.3	+	1	1240	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	414	FF 2.			Q -> A (in Ref. 1; AAF80386 and 6; AAA58618).	axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CCCTGCAGAGCAGCTATACGA	0.468000													73	30					0	0	0.048971	0	0
CELSR2	1952	broad.mit.edu	37	1	109794098	109794098	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr1:109794098C>T	ENST00000271332.3	+	1	1458	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	466	Cadherin 3.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GACTATGAGACGACCAAGGAG	0.547000													38	113					0	0	0.069456	0	0
TMEM184A	202915	broad.mit.edu	37	7	1590490	1590490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr7:1590490G>T	ENST00000297477.5	-	3	664	c.348C>A	c.(346-348)taC>taA	p.Y116*		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	116						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		AGTAGACGTAGTACTGGTGGT	0.642000													33	20					7.63505e-26	9.05082e-26	0.050027	1	0
TMEM150B	284417	broad.mit.edu	37	19	55831420	55831420	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr19:55831420A>T	ENST00000326652.4	-	6	493	c.311T>A	c.(310-312)gTa>gAa	p.V104E	TMEM150B_ENST00000438693.1_Missense_Mutation_p.V104E			A6NC51	T150B_HUMAN	transmembrane protein 150B	104						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						GAAATTGCCTACCACGGAGGT	0.617000													63	12					0	0	0.048971	0	0
MSTO1	55154	broad.mit.edu	37	1	155582074	155582074	+	Silent	SNP	C	C	T	rs423975		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr1:155582074C>T	ENST00000245564.2	+	8	804	c.780C>T	c.(778-780)acC>acT	p.T260T	MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000368341.4_Silent_p.T225T	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	260					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GAATAATAACCTGGGGCCTGC	0.552000													6	49					0	0	0.021553	0	0
CDH9	1007	broad.mit.edu	37	5	26885873	26885873	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr5:26885873G>A	ENST00000231021.4	-	11	1904	c.1732C>T	c.(1732-1734)Caa>Taa	p.Q578*		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	578	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTGCTGCTTTGAATTGGATAA	0.458000													5	24					0	0	0.014758	0	0
CCDC132	55610	broad.mit.edu	37	7	92979233	92979233	+	Nonstop_Mutation	SNP	T	T	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr7:92979233T>G	ENST00000541136.1	+	24	2342	c.1780T>G	c.(1780-1782)Tag>Gag	p.*594E	CCDC132_ENST00000535481.1_Missense_Mutation_p.V504G|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000544910.1_Missense_Mutation_p.V754G|CCDC132_ENST00000305866.5_Missense_Mutation_p.V784G			Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	0										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TACTGGATTGTAGCTGGTAAA	0.338000													16	88					0	0	0.033300	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713977	142713977	+	RNA	DEL	T	T	-			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr1:142713977delT	ENST00000369381.2	-	0	628																											ATCCATATACTAAAAAGGTTA	0.294													3	6	---	---	---	---					
SP100	6672	broad.mit.edu	37	2	231379989	231379990	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr2:231379989_231379990insA	ENST00000264052.5	+	25	2629_2630	c.2274_2275insA	c.(2272-2277)gaaaaafs	p.EK758fs	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	758					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTAAAGGGGAGAAAAAAAAGAA	0.421													19	26	---	---	---	---					
PLSCR1	5359	broad.mit.edu	37	3	146246596	146246597	+	Frame_Shift_Ins	INS	-	-	T	rs78850778	by1000genomes	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr3:146246596_146246597insT	ENST00000342435.4	-	4	526_527	c.116_117insA	c.(115-117)tccfs	p.S39fs	PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000448787.2_Intron|PLSCR1_ENST00000487389.1_Frame_Shift_Ins_p.S32fs	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	39					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						GGGGCCCAGGGTAGCCACTATA	0.500													11	65	---	---	---	---					
ZNF775	285971	broad.mit.edu	37	7	150095175	150095176	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr7:150095175_150095176delGC	ENST00000329630.5	+	3	1713_1714	c.1606_1607delGC	c.(1606-1608)gfs	p.A536fs		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAAGGAGGAGGCGCGCTAGTGG	0.693													7	8	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651228	+	In_Frame_Del	DEL	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	-	rs35089393	by1000genomes	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	ENST00000399676.2	+	1	167_196	c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	c.(127-159)ggg>gg	p.GGCGGCGSGCA43del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	43				G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg	0.691													11	35	---	---	---	---					
ARAP1	116985	broad.mit.edu	37	11	72425238	72425238	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr11:72425238delG	ENST00000359373.5	-	4	1489	c.638delC	c.(637-639)cgfs	p.P213fs	ARAP1_ENST00000455638.2_Frame_Shift_Del_p.P213fs|ARAP1_ENST00000429686.1_5'UTR|ARAP1_ENST00000426523.1_5'UTR|ARAP1_ENST00000393609.3_Frame_Shift_Del_p.P213fs|ARAP1_ENST00000334211.8_5'UTR			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	213					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						AGGTATCTCCGGGGGGCAGGG	0.652													2	4	---	---	---	---					
RP11-377D9.3	0	broad.mit.edu	37	12	13174141	13174142	+	RNA	INS	-	-	AACAAC	rs112328257	by1000genomes	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:13174141_13174142insAACAAC	ENST00000543321.1	+	0	1025																											tctgtctcaaaaacaacaacaa	0.550													3	4	---	---	---	---					
ABCC9	10060	broad.mit.edu	37	12	22061049	22061054	+	In_Frame_Del	DEL	TAAAGT	TAAAGT	-			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:22061049_22061054delTAAAGT	ENST00000261200.4	-	9	1411_1416	c.1412_1417delACTTTA	c.(1411-1419)ttt>t	p.YFI471del	ABCC9_ENST00000345162.2_In_Frame_Del_p.YFI471del|ABCC9_ENST00000261201.4_In_Frame_Del_p.YFI471del	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	471	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTTGTAGCAATAAAGTACTGAATTGG	0.364													12	26	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49447085	49447086	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:49447085_49447086insAC	ENST00000301067.7	-	7	857_858	c.858_859insGT	c.(856-861)tcagatfs	p.D287fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ACCAACATCTTAGAGTCATTCC	0.455													46	88	---	---	---	---					
ELK3	2004	broad.mit.edu	37	12	96641028	96641029	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr12:96641028_96641029insC	ENST00000228741.3	+	3	844_845	c.518_519insC	c.(517-519)accfs	p.T173fs	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	173					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.V176fs*14(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CCCGAAGACAGCCCCCCCGTGG	0.579													11	66	---	---	---	---					
ISLR2	57611	broad.mit.edu	37	15	74425155	74425155	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr15:74425155delC	ENST00000361742.3	+	4	829	c.60delC	c.(58-60)tgfs	p.C20fs	ISLR2_ENST00000565540.1_Frame_Shift_Del_p.C20fs|ISLR2_ENST00000565159.1_Frame_Shift_Del_p.C20fs|ISLR2_ENST00000435464.1_Frame_Shift_Del_p.C20fs|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Frame_Shift_Del_p.C20fs|ISLR2_ENST00000445793.1_Frame_Shift_Del_p.C20fs|ISLR2_ENST00000419208.1_Frame_Shift_Del_p.C20fs	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	20	LRRNT.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CCGGATCATGCCCGGAGCCGT	0.617													18	49	---	---	---	---					
ZNF233	353355	broad.mit.edu	37	19	44778149	44778232	+	In_Frame_Del	DEL	CACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	CACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	-	rs148651556	byFrequency	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chr19:44778149_44778232delCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	ENST00000391958.2	+	5	1463_1546	c.1336_1419delCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATC	c.(1336-1419)del	p.HTGEKPYKCEVCDKGFSKASNLQAHQRI446del	ZNF233_ENST00000334152.1_In_Frame_Del_p.HTGEKPYKCEVCDKGFSKASNLQAHQRI428del|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CCAGAGAGTTCACACTGGAGAGAAACCATATAAATGTGAGGTATGTGATAAGGGCTTCAGTAAGGCCTCAAATCTTCAAGCCCATCAGAGAATCCACACTGGAG	0.437													26	24	---	---	---	---					
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	adb3715b-8a29-42d5-8490-8a55d24b4360	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													3	5	---	---	---	---					
RETSAT	54884	broad.mit.edu	37	2	85570875	85570878	+	Frame_Shift_Del	DEL	AGAT	AGAT	-	rs70953934		TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr2:85570875_85570878delAGAT	ENST00000295802.4	-	10	1689_1692	c.1577_1580delATCT	c.(1576-1581)tgfs	p.YL526fs	RETSAT_ENST00000457495.2_Frame_Shift_Del_p.YL465fs|RETSAT_ENST00000263854.6_Frame_Shift_Del_p.LS470fs|RETSAT_ENST00000475624.2_5'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	526					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GGGAGCAGCCAGATAGAACTGGTT	0.637													9	35	---	---	---	---					
SP100	6672	broad.mit.edu	37	2	231379989	231379990	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr2:231379989_231379990insA	ENST00000264052.5	+	25	2629_2630	c.2274_2275insA	c.(2272-2277)gaaaaafs	p.EK758fs	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	758					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTAAAGGGGAGAAAAAAAAGAA	0.421													19	26	---	---	---	---					
THSD7A	221981	broad.mit.edu	37	7	11871470	11871481	+	In_Frame_Del	DEL	GCAGCGGCAGCG	GCAGCGGCAGCG	-			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr7:11871470_11871481delGCAGCGGCAGCG	ENST00000423059.3	-	1	343_354	c.92_103delCGCTGCCGCTGC	c.(91-105)ctc>c	p.PLPLL31del		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	31						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		agcagcaggagcagcggcagcggcagcggcag	0.774										HNSCC(18;0.044)			4	9	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651228	+	In_Frame_Del	DEL	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	-	rs35089393	by1000genomes	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	ENST00000399676.2	+	1	167_196	c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	c.(127-159)ggg>gg	p.GGCGGCGSGCA43del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	43				G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg	0.691													11	35	---	---	---	---					
ARAP1	116985	broad.mit.edu	37	11	72425238	72425238	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr11:72425238delG	ENST00000359373.5	-	4	1489	c.638delC	c.(637-639)cgfs	p.P213fs	ARAP1_ENST00000455638.2_Frame_Shift_Del_p.P213fs|ARAP1_ENST00000429686.1_5'UTR|ARAP1_ENST00000334211.8_5'UTR|ARAP1_ENST00000393609.3_Frame_Shift_Del_p.P213fs|ARAP1_ENST00000426523.1_5'UTR			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	213					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						AGGTATCTCCGGGGGGCAGGG	0.652													2	4	---	---	---	---					
RP11-377D9.3	0	broad.mit.edu	37	12	13174141	13174142	+	RNA	INS	-	-	AACAAC	rs112328257	by1000genomes	TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr12:13174141_13174142insAACAAC	ENST00000543321.1	+	0	1025																											tctgtctcaaaaacaacaacaa	0.550													3	4	---	---	---	---					
ABCC9	10060	broad.mit.edu	37	12	22061049	22061054	+	In_Frame_Del	DEL	TAAAGT	TAAAGT	-			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr12:22061049_22061054delTAAAGT	ENST00000261200.4	-	9	1411_1416	c.1412_1417delACTTTA	c.(1411-1419)ttt>t	p.YFI471del	ABCC9_ENST00000345162.2_In_Frame_Del_p.YFI471del|ABCC9_ENST00000261201.4_In_Frame_Del_p.YFI471del	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	471	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTTGTAGCAATAAAGTACTGAATTGG	0.364													12	26	---	---	---	---					
ELK3	2004	broad.mit.edu	37	12	96641028	96641029	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr12:96641028_96641029insC	ENST00000228741.3	+	3	844_845	c.518_519insC	c.(517-519)accfs	p.T173fs	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	173					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.V176fs*14(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CCCGAAGACAGCCCCCCCGTGG	0.579													11	66	---	---	---	---					
EFCAB13	124989	broad.mit.edu	37	17	45419342	45419343	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr17:45419342_45419343insA	ENST00000331493.2	+	6	658_659	c.247_248insA	c.(247-249)aaafs	p.K83fs	EFCAB13_ENST00000520802.1_3'UTR|ITGB3_ENST00000435993.2_3'UTR|EFCAB13_ENST00000517484.1_Frame_Shift_Ins_p.K83fs|ITGB3_ENST00000560629.1_3'UTR	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		TTTTTCAGGAGAAAAAAAAGTT	0.287													10	20	---	---	---	---					
ZFP36	7538	broad.mit.edu	37	19	39899260	39899261	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chr19:39899260_39899261insG	ENST00000597629.1	+	2	994_995	c.920_921insG	c.(919-921)gggfs	p.G307fs	ZFP36_ENST00000248673.3_Frame_Shift_Ins_p.G301fs			P26651	TTP_HUMAN	ZFP36 ring finger protein	301					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTCTTCGAGGCGGGAGTTTTTG	0.619													11	162	---	---	---	---					
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	RNA	DEL	AC	AC	-			TCGA-CV-5434-01A-01D-1683-08	TCGA-CV-5434-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69ef7b45-cd0e-4d59-a0ee-35a8c830120c	2db53391-19dc-48e2-9636-d744b534591e	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GCCACACATGACACACACACAC	0.470													7	82	---	---	---	---					
