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
MYH4	4622	broad.mit.edu	37	17	10369674	10369674	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:10369674G>C	ENST00000255381.2	-	4	374	c.264C>G	c.(262-264)atC>atG	p.I88M	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	88	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCATGTCCTCGATCTTGTCAT	0.438000													30	103					0	0	0.163468	0	0
COL6A1	1291	broad.mit.edu	37	21	47412128	47412128	+	Silent	SNP	C	C	T	rs140478280		TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr21:47412128C>T	ENST00000361866.3	+	17	1347	c.1233C>T	c.(1231-1233)gaC>gaT	p.D411D		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	411	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	p.D411D(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGGCGGGCGACGAGGTGAGTG	0.627000													7	32					0	0	0.029380	0	0
QKI	9444	broad.mit.edu	37	6	163956139	163956139	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr6:163956139G>T	ENST00000361752.3	+	4	1079	c.528G>T	c.(526-528)aaG>aaT	p.K176N	QKI_ENST00000392127.2_Missense_Mutation_p.K176N|QKI_ENST00000361195.2_Missense_Mutation_p.K176N|QKI_ENST00000424802.3_Missense_Mutation_p.K176N|QKI_ENST00000275262.7_Missense_Mutation_p.K176N|QKI_ENST00000453779.2_Missense_Mutation_p.K176N	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	176					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		AAGAAGTGAAGAAATTATTGG	0.343000													24	96					1.75199e-13	2.10238e-13	0.125774	1	0
FRMD8	83786	broad.mit.edu	37	11	65161133	65161133	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr11:65161133G>A	ENST00000317568.5	+	4	506	c.343G>A	c.(343-345)Gac>Aac	p.D115N	FRMD8_ENST00000355991.5_Missense_Mutation_p.D59N|FRMD8_ENST00000416776.2_Intron	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	115	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CCCAGACGATGACGTGGCCAT	0.652000													5	24					0	0	0.021553	0	0
CHD1	1105	broad.mit.edu	37	5	98205532	98205532	+	Missense_Mutation	SNP	T	T	C	rs139215644	byFrequency	TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr5:98205532T>C	ENST00000284049.3	-	29	4182	c.4033A>G	c.(4033-4035)Ata>Gta	p.I1345V	CHD1_ENST00000511067.1_5'UTR	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1345					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTCACTTTTATAGACTTCATT	0.308000													3	32					0	0	0.115264	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													6	61					0	0	0.021553	0	0
RPP30	10556	broad.mit.edu	37	10	92634657	92634657	+	Silent	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr10:92634657C>A	ENST00000413330.1	+	2	149	c.114C>A	c.(112-114)atC>atA	p.I38I	RPP30_ENST00000371703.3_Silent_p.I38I	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	38					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						TCAATCATATCGTTGACTTTA	0.294000													12	50					3.27435e-08	3.64856e-08	0.119110	1	0
CDH23	64072	broad.mit.edu	37	10	73569779	73569779	+	Silent	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr10:73569779C>T	ENST00000224721.6	+	60	8945	c.8940C>T	c.(8938-8940)ttC>ttT	p.F2980F	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.F735F	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2975					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGGAGGAGTTCATCCACCTGC	0.602000													26	102					0	0	0.091800	0	0
SMC1A	8243	broad.mit.edu	37	X	53432540	53432540	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chrX:53432540C>T	ENST00000322213.4	-	11	1923	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H	SMC1A_ENST00000375340.6_Missense_Mutation_p.R365H	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	599	Flexible hinge.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TGGCTCATAGCGAATCACATC	0.532000													32	14					0	0	0.163468	0	0
ITPKC	80271	broad.mit.edu	37	19	41239201	41239201	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr19:41239201C>T	ENST00000263370.2	+	4	1639	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	536	Substrate binding.					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CACCAAGCCCCGCTACATGCA	0.642000													4	15					0	0	0.150653	0	0
ARID1A	8289	broad.mit.edu	37	1	27088729	27088729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:27088729C>T	ENST00000324856.7	+	7	2709	c.2338C>T	c.(2338-2340)Cag>Tag	p.Q780*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q397*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q780*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	780					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTCCGGAGGACAGATACACAC	0.577000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								22	70					0	0	0.083992	0	0
OR2L13	284521	broad.mit.edu	37	1	248262831	248262831	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:248262831C>T	ENST00000366478.2	+	3	491	c.154C>T	c.(154-156)Cct>Tct	p.P52S	OR2L13_ENST00000358120.2_Missense_Mutation_p.P52S	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.P52S(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCACGTGGATCCTCGTCTCCA	0.498000													17	137					0	0	0.146539	0	0
SART3	9733	broad.mit.edu	37	12	108917341	108917341	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr12:108917341G>C	ENST00000228284.3	-	19	3019	c.2785C>G	c.(2785-2787)Cag>Gag	p.Q929E	SART3_ENST00000431469.2_Missense_Mutation_p.Q893E	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	929					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TTCTCAGCCTGAGGAGCTGCA	0.602000									Porokeratosis				34	84					0	0	0.173368	0	0
TMEM207	131920	broad.mit.edu	37	3	190158157	190158157	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr3:190158157C>A	ENST00000354905.2	-	4	246	c.180G>T	c.(178-180)ttG>ttT	p.L60F		NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207	60						integral to membrane				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		GAGCTGCCACCAAAACCAGCA	0.517000													9	32					0.000274275	0.000289101	0.047766	1	0
C1orf35	79169	broad.mit.edu	37	1	228288911	228288911	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:228288911C>A	ENST00000272139.4	-	8	947	c.713G>T	c.(712-714)tGt>tTt	p.C238F	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	238										large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				CCTCCTCTTACAGCAGGGGGA	0.647000													28	25					2.48779e-11	2.89624e-11	0.108266	1	0
CSH2	1443	broad.mit.edu	37	17	61950577	61950577	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:61950577G>A	ENST00000336844.5	-	2	284	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	CSH2_ENST00000345366.7_Missense_Mutation_p.R45C|CSH2_ENST00000560142.1_Intron|CSH2_ENST00000392886.2_Missense_Mutation_p.R45C	NM_022644.3	NP_072170.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	45					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						TGGTGCGCGCGATGGGCTTGG	0.592000													20	102					0	0	0.163468	0	0
SASS6	163786	broad.mit.edu	37	1	100550935	100550935	+	Silent	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:100550935C>T	ENST00000287482.5	-	17	2063	c.1923G>A	c.(1921-1923)gcG>gcA	p.A641A	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Silent_p.A474A	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	641					centriole replication	centriole				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		CAGAGGGGAGCGCTGTGGGTT	0.408000													54	117					0	0	0.139131	0	0
WDR90	197335	broad.mit.edu	37	16	715685	715685	+	Missense_Mutation	SNP	G	G	A	rs150784706	by1000genomes	TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:715685G>A	ENST00000549091.1	+	35	4416	c.4324G>A	c.(4324-4326)Gag>Aag	p.E1442K	WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000547944.1_Missense_Mutation_p.E39K|WDR90_ENST00000293879.4_Missense_Mutation_p.E1440K|WDR90_ENST00000315764.4_Missense_Mutation_p.E39K	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1440										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCAGGTGAACGAGGTGGTCTT	0.647000													5	66					0	0	0.014758	0	0
POTEC	388468	broad.mit.edu	37	18	14543020	14543020	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr18:14543020G>T	ENST00000358970.5	-	1	125	c.126C>A	c.(124-126)aaC>aaA	p.N42K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	42										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTGCCCATGTTGCTCTTGC	0.587000													11	193					2.48551e-13	2.93742e-13	0.160694	1	0
WDR44	54521	broad.mit.edu	37	X	117578415	117578415	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chrX:117578415G>A	ENST00000254029.3	+	19	3000	c.2605G>A	c.(2605-2607)Gag>Aag	p.E869K	WDR44_ENST00000371822.5_Missense_Mutation_p.E780K|WDR44_ENST00000371825.3_Missense_Mutation_p.E861K	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	869						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AGAAGGGAACGAGAAAAGTGA	0.393000													42	41					0	0	0.117977	0	0
PTX4	390667	broad.mit.edu	37	16	1536086	1536086	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:1536086C>T	ENST00000447419.2	-	3	1316	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N	PTX4_ENST00000293922.1_Missense_Mutation_p.D426N|PTX4_ENST00000440447.2_3'UTR			Q96A99	PTX4_HUMAN	pentraxin 4, long	431	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						AGCGCCCGATCCCAGATAGCC	0.642000													12	62					0	0	0.160694	0	0
ATXN2	6311	broad.mit.edu	37	12	111893892	111893892	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr12:111893892G>A	ENST00000377617.3	-	23	3846	c.3685C>T	c.(3685-3687)Cat>Tat	p.H1229Y	ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000542287.2_Missense_Mutation_p.H964Y|ATXN2_ENST00000535949.1_Missense_Mutation_p.H922Y|ATXN2_ENST00000389153.4_Missense_Mutation_p.H966Y	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1229					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGAGAAGGATGGATCGTAAAG	0.557000													39	247					0	0	0.139131	0	0
INADL	10207	broad.mit.edu	37	1	62321821	62321821	+	Silent	SNP	T	T	C			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:62321821T>C	ENST00000371158.2	+	18	2346	c.2232T>C	c.(2230-2232)tgT>tgC	p.C744C	INADL_ENST00000316485.6_Silent_p.C744C	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	744	PDZ 5.		C -> R (in dbSNP:rs1134764).		intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATGAATACTGTTTGGACAACA	0.493000													42	76					0	0	0.092188	0	0
FLAD1	80308	broad.mit.edu	37	1	154962992	154962992	+	Silent	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:154962992C>T	ENST00000292180.3	+	5	1864	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	FLAD1_ENST00000368428.1_Silent_p.I55I|FLAD1_ENST00000368433.1_3'UTR|FLAD1_ENST00000315144.10_Silent_p.I417I|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368432.1_Silent_p.I417I|FLAD1_ENST00000295530.2_Intron	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	514	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCATGCGCATCAACCCACTGC	0.607000													7	28					0	0	0.038147	0	0
KCNJ2	3759	broad.mit.edu	37	17	68172221	68172221	+	Silent	SNP	T	T	G			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:68172221T>G	ENST00000243457.3	+	2	1424	c.1041T>G	c.(1039-1041)acT>acG	p.T347T	KCNJ2_ENST00000535240.1_Silent_p.T347T	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	347					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TCCACAAAACTTACGAAGTCC	0.418000													22	136					0	0	0.076483	0	0
SOX1	6656	broad.mit.edu	37	13	112722100	112722100	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr13:112722100G>A	ENST00000330949.1	+	1	188	c.128G>A	c.(127-129)gGc>gAc	p.G43D		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	43	Poly-Gly.				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		ggcggcgggggcgCCAAGGCC	0.781000													5	2					0	0	0.021553	0	0
MYO1C	4641	broad.mit.edu	37	17	1375218	1375218	+	Silent	SNP	G	G	A	rs78672478	byFrequency	TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:1375218G>A	ENST00000359786.5	-	19	2328	c.2004C>T	c.(2002-2004)taC>taT	p.Y668Y	MYO1C_ENST00000545534.2_Silent_p.Y644Y|MYO1C_ENST00000438665.2_Silent_p.Y649Y|MYO1C_ENST00000575158.1_Silent_p.Y633Y|MYO1C_ENST00000361007.2_Silent_p.Y633Y	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	668	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGAAAGCTTCGTATTTGCGGC	0.632000													6	121					0	0	0.021553	0	0
GALNT10	55568	broad.mit.edu	37	5	153783633	153783633	+	Silent	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr5:153783633G>A	ENST00000377657.3	+	1	39	c.39G>A	c.(37-39)acG>acA	p.T13T	SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000297107.6_Intron|GALNT10_ENST00000519544.1_Intron|GALNT10_ENST00000377661.2_Intron|SAP30L-AS1_ENST00000519727.1_RNA			Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	0						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AAGCAGAAACGTCATCCTCTC	0.562000													3	36					0	0	0.115264	0	0
SP140	11262	broad.mit.edu	37	2	231155199	231155199	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr2:231155199C>A	ENST00000392045.3	+	19	1859	c.1745C>A	c.(1744-1746)aCt>aAt	p.T582N	SP140_ENST00000417495.3_Missense_Mutation_p.T468N|SP140_ENST00000350136.5_Missense_Mutation_p.T451N|SP140_ENST00000420434.3_Missense_Mutation_p.T555N|SP140_ENST00000486687.2_Missense_Mutation_p.T506N|SP140_ENST00000343805.6_Missense_Mutation_p.T522N	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	582	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|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)		AAAGATGAAACTGTGGATTTT	0.428000													34	104					4.02929e-09	4.62183e-09	0.153744	1	0
CREBBP	1387	broad.mit.edu	37	16	3779591	3779591	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:3779591G>T	ENST00000262367.5	-	31	6266	c.5457C>A	c.(5455-5457)tgC>tgA	p.C1819*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.C1781*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1819	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGAGCTGCTTGCACACCGGGC	0.607000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						31	97					1.39806e-14	1.73093e-14	0.134883	1	0
TNFSF13	8741	broad.mit.edu	37	17	7462496	7462496	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:7462496C>T	ENST00000349228.4	+	1	704	c.140C>T	c.(139-141)gCt>gTt	p.A47V	TNFSF13_ENST00000380535.4_Missense_Mutation_p.A47V|TNFSF13_ENST00000396545.4_Missense_Mutation_p.A47V|TNFSF12_ENST00000557233.1_Intron|TNFSF13_ENST00000338784.4_Missense_Mutation_p.A47V|TNFSF13_ENST00000483039.1_Intron|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF13_ENST00000396542.1_Missense_Mutation_p.A30V	NM_172087.2	NP_742084.1			tumor necrosis factor (ligand) superfamily, member 13											large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				TGTGCCATGGCTCTGCTGACC	0.652000													5	28					0	0	0.038147	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48142708	48142708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr12:48142708C>A	ENST00000405493.2	-	11	1131	c.922G>T	c.(922-924)Gag>Tag	p.E308*	RAPGEF3_ENST00000549151.1_Nonsense_Mutation_p.E308*|RAPGEF3_ENST00000171000.4_Nonsense_Mutation_p.E308*|RAPGEF3_ENST00000395358.3_Nonsense_Mutation_p.E350*|RAPGEF3_ENST00000449771.2_Nonsense_Mutation_p.E350*|RAPGEF3_ENST00000389212.3_Nonsense_Mutation_p.E350*|RAPGEF3_ENST00000548919.1_Nonsense_Mutation_p.E308*	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	308					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GTCTTTGCCTCCACATCCTGG	0.592000													30	93					3.99451e-17	5.10773e-17	0.144211	1	0
TRAP1	10131	broad.mit.edu	37	16	3726128	3726128	+	Silent	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:3726128G>A	ENST00000575671.1	-	2	825	c.96C>T	c.(94-96)atC>atT	p.I32I	TRAP1_ENST00000538171.1_Silent_p.I188I|TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000246957.5_Silent_p.I241I			Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	241					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				AAGCTTCGGCGATTTCAAACA	0.557000													18	54					0	0	0.049695	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58008471	58008471	+	Splice_Site	SNP	G	G	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr12:58008471G>T	ENST00000286494.4	+	9	1276		c.e9-1		AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Splice_Site|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25						regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTGTCCCCAGGAGCTCCGGC	0.587000													4	35					0.00909568	0.00945951	0.150653	1	0
CNGA4	1262	broad.mit.edu	37	11	6262969	6262969	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr11:6262969C>A	ENST00000379936.2	+	5	1341	c.1226C>A	c.(1225-1227)gCa>gAa	p.A409E	CNGA4_ENST00000533426.1_Missense_Mutation_p.A178E	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	409					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGCTCGGTGCAGGGCTCTAC	0.537000													39	152					2.24893e-16	2.8293e-16	0.111260	1	0
NFE2L2	4780	broad.mit.edu	37	2	178098804	178098804	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr2:178098804C>A	ENST00000397062.3	-	2	795	c.241G>T	c.(241-243)Ggt>Tgt	p.G81C	NFE2L2_ENST00000423513.1_Missense_Mutation_p.G65C|NFE2L2_ENST00000464747.1_Missense_Mutation_p.G65C|NFE2L2_ENST00000397063.4_Missense_Mutation_p.G65C|NFE2L2_ENST00000446151.2_Missense_Mutation_p.G65C	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	81					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G81S(2)|p.G81_F83delGEF(1)|p.G81C(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AGAAATTCACCTGTCTCTTCA	0.438000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			46	68					1.42923e-14	1.74187e-14	0.139131	1	0
TTN	7273	broad.mit.edu	37	2	179600758	179600758	+	Silent	SNP	T	T	C			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr2:179600758T>C	ENST00000589042.1	-	50	14639	c.14415A>G	c.(14413-14415)acA>acG	p.T4805T	TTN_ENST00000591111.1_Silent_p.T4488T|TTN_ENST00000342992.6_Silent_p.T3561T|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4488	Ig-like 28.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACAAAAGTTGTAAGGGACT	0.458000													25	54					0	0	0.108266	0	0
HGF	3082	broad.mit.edu	37	7	81381502	81381502	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr7:81381502G>A	ENST00000222390.5	-	5	785	c.559C>T	c.(559-561)Ccc>Tcc	p.P187S	HGF_ENST00000444829.2_Missense_Mutation_p.P187S|HGF_ENST00000457544.2_Missense_Mutation_p.P182S|HGF_ENST00000453411.1_Missense_Mutation_p.P182S|HGF_ENST00000423064.2_Missense_Mutation_p.P187S	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	187	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.P187S(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AAACACCAGGGTCCCCCTTCT	0.443000													8	31					0	0	0.047766	0	0
SAP30L	79685	broad.mit.edu	37	5	153826344	153826344	+	Silent	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr5:153826344C>A	ENST00000297109.6	+	1	828	c.180C>A	c.(178-180)ctC>ctA	p.L60L	SAP30L_ENST00000440364.2_Silent_p.L60L|SAP30L_ENST00000426761.2_Silent_p.L60L|SAP30L_ENST00000523198.1_3'UTR	NM_024632.5	NP_078908.1	Q9HAJ7	SP30L_HUMAN	SAP30-like	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|metal ion binding			breast(1)|lung(3)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AGAAGAAACTCAAGCTGGACA	0.687000													5	12					1.23904e-05	1.34229e-05	0.014758	1	0
FAN1	22909	broad.mit.edu	37	15	31197067	31197067	+	Silent	SNP	T	T	C			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr15:31197067T>C	ENST00000362065.4	+	2	492	c.201T>C	c.(199-201)aaT>aaC	p.N67N	FAN1_ENST00000565466.1_Silent_p.N67N|FAN1_ENST00000561607.1_Silent_p.N67N|FAN1_ENST00000561594.1_Silent_p.N67N	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	67					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GTGCTAACAATGACTTCGTTC	0.413000								Direct reversal of damage					19	51					0	0	0.049695	0	0
TMCO1	54499	broad.mit.edu	37	1	165721337	165721337	+	Splice_Site	SNP	A	A	G			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:165721337A>G	ENST00000367881.5	-	5	752		c.e5+1		TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site			Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					AAGGACACTCACATGGAATTG	0.299000													5	62					0	0	0.014758	0	0
SF3B3	23450	broad.mit.edu	37	16	70602265	70602265	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:70602265G>C	ENST00000302516.5	+	22	3243	c.3032G>C	c.(3031-3033)tGg>tCg	p.W1011S		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1011					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGTTTCATCTGGGTTCGCTAC	0.438000													13	67					0	0	0.119110	0	0
TAF5	6877	broad.mit.edu	37	10	105139408	105139408	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr10:105139408T>G	ENST00000369839.3	+	4	1180	c.1157T>G	c.(1156-1158)tTg>tGg	p.L386W	TAF5_ENST00000351396.4_Missense_Mutation_p.L386W	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	386					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GAGGTACCTTTGGATGACGAG	0.308000													9	49					0	0	0.069234	0	0
KIAA2013	90231	broad.mit.edu	37	1	11983424	11983424	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:11983424C>T	ENST00000376572.3	-	2	1341	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	KIAA2013_ENST00000376576.3_Missense_Mutation_p.E386K	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	386						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTCTCGCTCCCTGTGGCTC	0.637000													5	75					0	0	0.029380	0	0
ZNF783	100289678	broad.mit.edu	37	7	148964253	148964253	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr7:148964253C>T	ENST00000434415.1	+	4	776	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W		NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	205					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			TTGTCTTGACCGGTGGGGCCA	0.557000													15	25					0	0	0.146539	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926408	22926408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:22926408G>A	ENST00000261374.3	+	2	1063	c.629G>A	c.(628-630)cGt>cAt	p.R210H		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	210						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	p.R210H(1)		breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CCTGTGACCCGTGCCATCTCT	0.587000													38	120					0	0	0.124865	0	0
ZFP64	55734	broad.mit.edu	37	20	50803572	50803572	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr20:50803572C>A	ENST00000216923.4	-	2	434	c.85G>T	c.(85-87)Gac>Tac	p.D29Y	ZFP64_ENST00000361387.2_Missense_Mutation_p.D29Y|ZFP64_ENST00000371518.2_Missense_Mutation_p.D29Y|ZFP64_ENST00000371515.4_Missense_Mutation_p.D27Y|ZFP64_ENST00000346617.4_Missense_Mutation_p.D29Y	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						ATATGGATGTCGGGAGTCAGC	0.512000													8	31					5.4927e-09	6.20914e-09	0.047766	1	0
U2AF1L4	199746	broad.mit.edu	37	19	36233655	36233655	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr19:36233655G>A	ENST00000412391.2	-	8	641	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	U2AF1L4_ENST00000292879.5_Silent_p.I151I|AD000671.6_ENST00000589807.1_Intron|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.R171W			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	210					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGGAACACCGATGGTTCCTC	0.597000													32	133					0	0	0.086207	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	46					0	0	0.014758	0	0
TJP3	27134	broad.mit.edu	37	19	3734415	3734415	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr19:3734415G>T	ENST00000541714.2	+	8	1430	c.968G>T	c.(967-969)aGc>aTc	p.S323I	TJP3_ENST00000262968.9_Missense_Mutation_p.S356I|TJP3_ENST00000539908.2_Missense_Mutation_p.S287I|TJP3_ENST00000589378.1_Missense_Mutation_p.S332I|TJP3_ENST00000587686.1_Missense_Mutation_p.S342I|TJP3_ENST00000382008.3_Missense_Mutation_p.S337I	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	337						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGAGGCCAGCCAGACCGAC	0.657000													5	29					3.59834e-05	3.8448e-05	0.021553	1	0
UGT2B7	7364	broad.mit.edu	37	4	69962247	69962247	+	Silent	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr4:69962247G>A	ENST00000305231.7	+	1	55	c.9G>A	c.(7-9)gtG>gtA	p.V3V	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Silent_p.V3V	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	3					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGATGTCTGTGAAATGGACTT	0.408000													15	77					0	0	0.132662	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120352148	120352148	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr11:120352148G>A	ENST00000397843.2	+	39	4583	c.4417G>A	c.(4417-4419)Gaa>Aaa	p.E1473K	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.E1370K|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.E1454K	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1473					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATTCACCCCCGAATTTCTGGT	0.532000			T	MLL	AML								22	65					0	0	0.069288	0	0
ZFAT	57623	broad.mit.edu	37	8	135614165	135614165	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr8:135614165C>A	ENST00000520727.1	-	7	2060	c.1761G>T	c.(1759-1761)ttG>ttT	p.L587F	ZFAT_ENST00000429442.2_Missense_Mutation_p.L587F|ZFAT_ENST00000377838.3_Missense_Mutation_p.L599F|ZFAT_ENST00000523399.1_Missense_Mutation_p.L537F|ZFAT_ENST00000520356.1_Missense_Mutation_p.L587F|ZFAT_ENST00000520214.1_Missense_Mutation_p.L587F	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TATCATTTTTCAACAAAAAAT	0.537000													9	37					1.12685e-05	1.23795e-05	0.047766	1	0
HECTD4	283450	broad.mit.edu	37	12	112667559	112667559	+	Silent	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr12:112667559G>A	ENST00000550722.1	-	41	6419	c.6024C>T	c.(6022-6024)gcC>gcT	p.A2008A	HECTD4_ENST00000377560.5_Silent_p.A1982A|HECTD4_ENST00000430131.2_Silent_p.A1732A	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CACACAGTGCGGCAACGGCCT	0.493000													40	119					0	0	0.111260	0	0
SPATA25	128497	broad.mit.edu	37	20	44516182	44516182	+	Silent	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr20:44516182G>A	ENST00000372519.3	-	1	92	c.48C>T	c.(46-48)tcC>tcT	p.S16S		NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN	spermatogenesis associated 25	16						integral to membrane											CACCTTGGCCGGAAGGCAGAG	0.607000													9	45					0	0	0.069234	0	0
CLDN7	1366	broad.mit.edu	37	17	7163815	7163815	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:7163815A>C	ENST00000360325.7	-	4	948	c.514T>G	c.(514-516)Tct>Gct	p.S172A	RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000538261.3_Silent_p.G143G|CLDN7_ENST00000397317.4_Missense_Mutation_p.S172A	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	172					calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity	p.S172A(1)		kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						ACTAGGGCAGACCCTGCCCAG	0.572000													4	9					0	0	0.080935	0	0
HS3ST5	222537	broad.mit.edu	37	6	114379002	114379002	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr6:114379002C>G	ENST00000312719.5	-	5	1648	c.460G>C	c.(460-462)Gaa>Caa	p.E154Q	RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.E154Q|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	154					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	p.E154K(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GGGCTCTTTTCAATTGTGATT	0.383000													29	145					0	0	0.108266	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171778	4171778	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr19:4171778G>A	ENST00000078445.2	+	10	1345	c.1198G>A	c.(1198-1200)Ggg>Agg	p.G400R	CREB3L3_ENST00000602257.1_Missense_Mutation_p.G398R|CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000595923.1_Missense_Mutation_p.G399R|CREB3L3_ENST00000252587.3_Silent_p.P288P	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	400					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAAGCCCCGGGGCAGACTG	0.667000													29	83					0	0	0.144211	0	0
KLHL31	401265	broad.mit.edu	37	6	53519325	53519325	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr6:53519325T>C	ENST00000370905.3	-	2	886	c.746A>G	c.(745-747)aAa>aGa	p.K249R	KLHL31_ENST00000407079.1_Missense_Mutation_p.K249R	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	249	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TGCAGCGTATTTTACTCTCTT	0.373000													26	97					0	0	0.091800	0	0
EFEMP2	30008	broad.mit.edu	37	11	65635459	65635459	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr11:65635459A>T	ENST00000307998.6	-	10	1273	c.1043T>A	c.(1042-1044)aTg>aAg	p.M348K	EFEMP2_ENST00000528176.1_Missense_Mutation_p.M348K	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	348					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GGTGATGGTCATGTAGCGGTG	0.612000													5	86					0	0	0.014758	0	0
NPIPB6	728741	broad.mit.edu	37	16	28354090	28354090	+	Silent	SNP	C	C	G	rs609553	by1000genomes	TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:28354090C>G	ENST00000532254.1	-	7	1801	c.1116G>C	c.(1114-1116)ccG>ccC	p.P372P	NPIPB6_ENST00000533640.1_Silent_p.P354P					nuclear pore complex interacting protein family, member B6																		TCTTGGGTTTCGGTGATTGTT	0.557000													6	25					0	0	0.029380	0	0
VPS13D	55187	broad.mit.edu	37	1	12304423	12304423	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:12304423A>G	ENST00000358136.3	+	4	426	c.296A>G	c.(295-297)gAt>gGt	p.D99G	VPS13D_ENST00000356315.4_Missense_Mutation_p.D99G	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	99					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GATTTCAATGATGAAAAGGAG	0.478000													26	61					0	0	0.099896	0	0
TRAJ27	28728	broad.mit.edu	37	14	22985281	22985281	+	RNA	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr14:22985281G>A	ENST00000390510.1	+	0	31																											CAACCTTTGGGGATGGGACTA	0.443000													71	186					0	0	0.139131	0	0
RUNX3	864	broad.mit.edu	37	1	25245773	25245773	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr1:25245773G>A	ENST00000399916.1	-	4	982	c.544C>T	c.(544-546)Cga>Tga	p.R182*	RUNX3_ENST00000308873.6_Nonsense_Mutation_p.R168*|RUNX3_ENST00000540420.1_Nonsense_Mutation_p.R75*|RUNX3_ENST00000338888.3_Nonsense_Mutation_p.R182*|RUNX3_ENST00000496967.1_5'UTR	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	168	Runt.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		TTGATGGCTCGGTGGTAGGTC	0.652000													10	62					0	0	0.105934	0	0
SRCAP	10847	broad.mit.edu	37	16	30732558	30732558	+	Missense_Mutation	SNP	C	C	G	rs149248373	byFrequency	TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr16:30732558C>G	ENST00000262518.4	+	21	3687	c.3302C>G	c.(3301-3303)aCg>aGg	p.T1101R	SRCAP_ENST00000395059.2_Missense_Mutation_p.T1101R|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1101	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CGGCCTCCCACGCCAACCTTG	0.602000													31	134					0	0	0.163468	0	0
UNC80	285175	broad.mit.edu	37	2	210640648	210640648	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr2:210640648T>A	ENST00000439458.1	+	3	257	c.177T>A	c.(175-177)caT>caA	p.H59Q	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.H59Q	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	59						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						ACAAGCTGCATGGCCTCTCTC	0.448000													55	124					0	0	0.139131	0	0
USH1C	10083	broad.mit.edu	37	11	17548774	17548774	+	Silent	SNP	C	C	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr11:17548774C>T	ENST00000005226.7	-	5	491	c.492G>A	c.(490-492)gtG>gtA	p.V164V	USH1C_ENST00000527020.1_Silent_p.V164V|USH1C_ENST00000318024.4_Silent_p.V164V|USH1C_ENST00000527720.1_Silent_p.V133V	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	164	PDZ 1.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ACTCACGTCTCACTTTGATGG	0.572000													19	65					0	0	0.175082	0	0
FSTL5	56884	broad.mit.edu	37	4	162307374	162307374	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr4:162307374delT	ENST00000306100.5	-	16	2505	c.2069delA	c.(2068-2070)atfs	p.N690fs	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Frame_Shift_Del_p.N689fs|FSTL5_ENST00000427802.2_Frame_Shift_Del_p.N680fs|FSTL5_ENST00000379164.4_Frame_Shift_Del_p.N689fs	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	690						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)		CACATCACTATTGAACCCAAT	0.488													17	56	---	---	---	---					
HIST1H2BL	8340	broad.mit.edu	37	6	27775637	27775638	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr6:27775637_27775638insTT	ENST00000377401.2	-	1	71_72	c.47_48insAA	c.(46-48)aaafs	p.K16fs		NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	16					nucleosome assembly	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TCACCGCCTTCTTGGAGCCCTT	0.540													7	141	---	---	---	---					
PRKDC	5591	broad.mit.edu	37	8	48701554	48701555	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr8:48701554_48701555insT	ENST00000314191.2	-	77	10867_10868	c.10811_10812insA	c.(10810-10812)aatfs	p.N3604fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Ins_p.N3604fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3605					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TTTTTTCAATGTTTTTTTTATT	0.401								Non-homologous end-joining					15	69	---	---	---	---					
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr15:65918177_65918179delCTG	ENST00000261892.6	+	2	2046_2048	c.1759_1761delCTG	c.(1759-1761)del	p.L591del	SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	591					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGGAGAGCCTGCTGCTGCTGC	0.547													8	121	---	---	---	---					
NUFIP2	57532	broad.mit.edu	37	17	27614070	27614071	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7429-01A-11D-2129-08	TCGA-CV-7429-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b42e59-e519-4efc-8105-6f6b83d33353	61924a75-3973-4d33-8d14-8ead1c8c9b54	g.chr17:27614070_27614071insT	ENST00000225388.4	-	2	999_1000	c.941_942insA	c.(940-942)attfs	p.I314fs	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	314						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GATCATCAAACTTTTTGCTGCT	0.475													38	82	---	---	---	---