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
PARP3	10039	broad.mit.edu	37	3	51979165	51979165	+	Silent	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr3:51979165G>A	ENST00000417220.2	+	7	1274	c.786G>A	c.(784-786)ccG>ccA	p.P262P	PARP3_ENST00000431474.1_Silent_p.P262P|PARP3_ENST00000398755.3_Silent_p.P269P			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	262	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCGTCATCCCGCACAACTTCG	0.637000													4	126					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815770	158815770	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:158815770T>G	ENST00000368141.4	+	5	1225	c.964T>G	c.(964-966)Tat>Gat	p.Y322D		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	322	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.Y322D(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AACAATGGTGTATGGGTTGTT	0.323000													19	111					0	0	1	0	0
THAP7	80764	broad.mit.edu	37	22	21355011	21355011	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr22:21355011C>T	ENST00000215742.4	-	3	476	c.302G>A	c.(301-303)cGg>cAg	p.R101Q	THAP7_ENST00000399133.2_Missense_Mutation_p.R101Q	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	101					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CTTGGTTGTCCGGCGCAACTT	0.572000													5	255					0	0	1	0	0
OXT	5020	broad.mit.edu	37	20	3052920	3052920	+	Silent	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr20:3052920C>T	ENST00000217386.2	+	2	354	c.318C>T	c.(316-318)agC>agT	p.S106S		NM_000915.2	NP_000906.1	P01178	NEU1_HUMAN	oxytocin/neurophysin I prepropeptide	106					signal transduction		neurohypophyseal hormone activity			lung(2)	2					Oxytocin(DB00107)	TCTGCTGCAGCCCGGGTGAGC	0.751000													3	26					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132159533	132159533	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:132159533C>A	ENST00000511190.1	-	6	3185	c.2716G>T	c.(2716-2718)Gta>Tta	p.V906L	USP26_ENST00000370832.1_Missense_Mutation_p.V906L|USP26_ENST00000406273.1_Missense_Mutation_p.V906L	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	906					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.V906L(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GTCTCCTCTACCTCCTTGCTA	0.448000													18	99					1.67942e-08	1.8929e-08	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144855783	144855783	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:144855783G>A	ENST00000369359.4	-	44	7216	c.7178C>T	c.(7177-7179)gCg>gTg	p.A2393V	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2151V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2342V|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.A2257V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2257V|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2257					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.A2257V(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGGCAGGGCCGCTCTCCAGAA	0.572000			T	PDGFRB	MPD								4	92					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168115300	168115300	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:168115300A>T	ENST00000409728.1	+	11	2432	c.2343A>T	c.(2341-2343)gaA>gaT	p.E781D	XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.E748D|XIRP2_ENST00000409756.2_Missense_Mutation_p.E748D|XIRP2_ENST00000420519.1_Missense_Mutation_p.E781D|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.E526D	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding	p.E781D(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGAATATGAAATTGAGAAGT	0.333000													9	68					0	0	1	0	0
LOC349160	349160	broad.mit.edu	37	7	136848907	136848907	+	RNA	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:136848907C>T	ENST00000439694.1	-	0	164				AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000599888.1_RNA																							TCTGGTCAGACGGAACAACTC	0.498000													7	51					0	0	1	0	0
MLLT4-AS1	653483	broad.mit.edu	37	6	168226811	168226811	+	RNA	SNP	T	T	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr6:168226811T>C	ENST00000359760.5	-	0	578					NR_027906.1													p.N109D(1)									CATCGCCCGTTCGGACCCAGC	0.687000													6	163					0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132288220	132288220	+	Missense_Mutation	SNP	G	G	A	rs148324548		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:132288220G>A	ENST00000467992.2	+	1	984	c.670G>A	c.(670-672)Gga>Aga	p.G224R	CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000295171.6_Missense_Mutation_p.G122R			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	122										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CTGCATCAACGGAGTGTGGGT	0.657000													6	64					0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27690423	27690423	+	Silent	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:27690423G>A	ENST00000374040.3	-	4	1085	c.825C>T	c.(823-825)tcC>tcT	p.S275S	MAP3K6_ENST00000357582.2_Silent_p.S283S|MAP3K6_ENST00000493901.1_Silent_p.S283S			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	283					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	p.S275S(1)		breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CATCGCGGTAGGAGAGCAGCA	0.607000													4	32					0	0	1	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75376459	75376459	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr14:75376459C>T	ENST00000555647.1	-	8	1344	c.1057G>A	c.(1057-1059)Ggc>Agc	p.G353S	RPS6KL1_ENST00000358328.4_Missense_Mutation_p.G353S|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.G353S|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.G322S			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	353	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity	p.G353S(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		AGCACCGGGCCGGCCCCCTCA	0.692000													9	37					0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43023936	43023936	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr15:43023936G>A	ENST00000356231.3	-	11	1644	c.1621C>T	c.(1621-1623)Cgg>Tgg	p.R541W		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	541						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CGCCACAACCGCCCCAGCTTG	0.627000													4	97					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70890768	70890768	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:70890768G>A	ENST00000264436.3	-	16	2414	c.1970C>T	c.(1969-1971)aCg>aTg	p.T657M	ADD2_ENST00000355733.3_3'UTR|ADD2_ENST00000407644.2_Missense_Mutation_p.T657M	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	657					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	p.T657M(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTCCTCTGCCGTCTGCTCCTC	0.572000													15	154					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55227956	55227956	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:55227956A>G	ENST00000275493.2	+	12	1600	c.1423A>G	c.(1423-1425)Ata>Gta	p.I475V	EGFR_ENST00000442591.1_Missense_Mutation_p.I475V|EGFR_ENST00000342916.3_Missense_Mutation_p.I475V|EGFR_ENST00000454757.2_Missense_Mutation_p.I422V|EGFR_ENST00000455089.1_Missense_Mutation_p.I430V|EGFR_ENST00000344576.2_Missense_Mutation_p.I475V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	475					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.I475V(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCAAATACAATAAACTGGAA	0.393000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			21	46					0	0	1	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138200423	138200423	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr6:138200423A>G	ENST00000237289.4	+	7	1907	c.1841A>G	c.(1840-1842)tAt>tGt	p.Y614C		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	614	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.Y614C(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GGCTGCGTGTATTTTGGGACT	0.542000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								15	95					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160763740	160763740	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr5:160763740C>T	ENST00000274547.2	-	7	795	c.578G>A	c.(577-579)cGt>cAt	p.R193H	GABRB2_ENST00000517901.1_Missense_Mutation_p.R130H|GABRB2_ENST00000393959.1_Missense_Mutation_p.R193H|GABRB2_ENST00000517547.1_Missense_Mutation_p.R33H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R193H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R193H	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	193					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	p.R193L(2)|p.R193H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATCATCGCCACGCCAGTAAAA	0.353000													15	82					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29730294	29730294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr22:29730294G>A	ENST00000357586.2	-	17	2455	c.2269C>T	c.(2269-2271)Cag>Tag	p.Q757*	AP1B1_ENST00000356015.2_Nonsense_Mutation_p.Q750*|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000317368.7_Nonsense_Mutation_p.Q730*|AP1B1_ENST00000402502.1_Nonsense_Mutation_p.Q750*|AP1B1_ENST00000415447.1_Nonsense_Mutation_p.Q750*|AP1B1_ENST00000432560.2_Nonsense_Mutation_p.Q750*|AP1B1_ENST00000405198.1_Nonsense_Mutation_p.Q757*	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	757					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTCATGACCTGCAAGGCCTTG	0.607000													4	130					0	0	1	0	0
LHFPL4	375323	broad.mit.edu	37	3	9547694	9547694	+	Silent	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr3:9547694C>T	ENST00000287585.6	-	3	885	c.600G>A	c.(598-600)cgG>cgA	p.R200R		NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	200						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GGTCTGTTTGCCGGTTGCCCA	0.657000													4	160					0	0	1	0	0
NEIL3	55247	broad.mit.edu	37	4	178272610	178272610	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr4:178272610A>T	ENST00000264596.3	+	7	1064	c.946A>T	c.(946-948)Aag>Tag	p.K316*	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	316					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	p.K316*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CGTGGCTCGGAAGTCGGAAGA	0.423000								Base excision repair (BER), DNA glycosylases					18	153					0	0	1	0	0
SNRNP40	9410	broad.mit.edu	37	1	31754270	31754270	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:31754270T>A	ENST00000263694.4	-	5	623	c.605A>T	c.(604-606)aAt>aTt	p.N202I	SNRNP40_ENST00000489853.1_5'UTR|SNRNP40_ENST00000446633.2_Missense_Mutation_p.N202I	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	202						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding	p.N202I(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						ACTTGTGTCATTGAAGGTCAC	0.393000													22	66					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17168789	17168789	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr10:17168789G>C	ENST00000377833.4	-	4	423	c.358C>G	c.(358-360)Ctt>Gtt	p.L120V	CUBN_ENST00000377823.1_Missense_Mutation_p.L120V	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	120					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.L120V(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTCTCTCAAGATCCACCAGC	0.408000													22	61					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11630169	11630169	+	Silent	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:11630169C>T	ENST00000423059.3	-	4	1622	c.1371G>A	c.(1369-1371)ggG>ggA	p.G457G		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	457	TSP type-1 4.					integral to membrane		p.G457G(2)		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)		TCTGGATGCCCCCTCCACAGA	0.552000										HNSCC(18;0.044)			10	48					0	0	1	0	0
SLC9A6	10479	broad.mit.edu	37	X	135098865	135098865	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:135098865T>A	ENST00000370695.4	+	10	1333	c.1298T>A	c.(1297-1299)cTg>cAg	p.L433Q	SLC9A6_ENST00000370701.1_Missense_Mutation_p.L381Q|SLC9A6_ENST00000370698.3_Missense_Mutation_p.L401Q	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	401					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	p.L401Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GGGCTGACACTGTTCACCTTC	0.333000													8	119					0	0	1	0	0
NAE1	8883	broad.mit.edu	37	16	66850564	66850564	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr16:66850564T>A	ENST00000379463.2	-	12	934	c.742A>T	c.(742-744)Aat>Tat	p.N248Y	NAE1_ENST00000290810.3_Missense_Mutation_p.N254Y|NAE1_ENST00000394074.2_Missense_Mutation_p.N165Y|NAE1_ENST00000359087.4_Missense_Mutation_p.N257Y	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	254					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	p.N254Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	CCATTTTCATTTTTTAGAATT	0.353000													5	49					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58577499	58577499	+	Silent	SNP	T	T	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr16:58577499T>C	ENST00000441024.2	-	31	4730	c.4446A>G	c.(4444-4446)ctA>ctG	p.L1482L	CNOT1_ENST00000317147.5_Intron|CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000569240.1_Intron	NM_206999.2	NP_996882.1	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	0					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ACCAAGGAAATAGCCAACTTA	0.378000													19	75					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238253407	238253407	+	Silent	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:238253407G>A	ENST00000295550.4	-	36	7706	c.7254C>T	c.(7252-7254)ttC>ttT	p.F2418F	COL6A3_ENST00000347401.3_Silent_p.F2217F|COL6A3_ENST00000353578.4_Silent_p.F2212F|COL6A3_ENST00000346358.4_Silent_p.F2218F|COL6A3_ENST00000472056.1_Silent_p.F1811F|COL6A3_ENST00000409809.1_Silent_p.F2212F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2418	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.F2418F(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCATCCGGCCGAAAGTGTCTT	0.567000													17	136					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137212	40137212	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr11:40137212C>A	ENST00000278198.2	-	2	2594	c.631G>T	c.(631-633)Gaa>Taa	p.E211*	LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.E211*|LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.E211*|LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.E211*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	211					regulation of axonogenesis	integral to membrane	protein binding	p.E211*(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTAGGGATTTCCCGAAGGTTG	0.453000													31	98					8.88839e-20	1.06501e-19	1	1	0
NAV3	89795	broad.mit.edu	37	12	78598823	78598823	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr12:78598823C>T	ENST00000397909.2	+	39	7116	c.6943C>T	c.(6943-6945)Cga>Tga	p.R2315*	NAV3_ENST00000228327.6_Nonsense_Mutation_p.R2293*|NAV3_ENST00000541270.1_Nonsense_Mutation_p.R145*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.R2293*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.R2116*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2315						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.R2293*(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTTCAGCTGCGACCAGAAGA	0.512000										HNSCC(70;0.22)			10	34					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577058	7577058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:7577058C>A	ENST00000420246.2	-	8	1012	c.880G>T	c.(880-882)Gag>Tag	p.E294*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E294*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E294*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E294*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E294*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	294	Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (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.E294*(46)|p.E294fs*51(9)|p.K291fs*48(8)|p.0?(8)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(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)		TGGTGAGGCTCCCCTTTCTTG	0.567000		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)			22	57					1.10513e-12	1.28932e-12	1	1	0
CDK5R1	8851	broad.mit.edu	37	17	30815310	30815310	+	Silent	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:30815310C>T	ENST00000313401.3	+	2	1361	c.672C>T	c.(670-672)gcC>gcT	p.A224A		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	224					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			AGCTCCAGGCCGTCCTGCTGA	0.592000													36	209					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192431	152192431	+	Silent	SNP	A	A	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:152192431A>G	ENST00000368801.2	-	3	1749	c.1674T>C	c.(1672-1674)taT>taC	p.Y558Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	558					keratinization		calcium ion binding|protein binding	p.Y558Y(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGTGGGCCATAGCTGGAAG	0.582000													30	171					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184666	130184666	+	Silent	SNP	C	C	T	rs143084996	byFrequency	TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr12:130184666C>T	ENST00000422113.2	-	2	983	c.657G>A	c.(655-657)ccG>ccA	p.P219P		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	219						integral to membrane		p.P219P(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGGTCCCCTCCGGCTGGTCCA	0.682000													11	86					0	0	1	0	0
CCDC38	120935	broad.mit.edu	37	12	96288830	96288830	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr12:96288830C>A	ENST00000344280.3	-	8	1266	c.709G>T	c.(709-711)Gca>Tca	p.A237S	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	237										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTTTTTAGTGCTTGCTGGATT	0.333000													19	200					2.5808e-16	3.0647e-16	1	1	0
EXOC4	60412	broad.mit.edu	37	7	133602486	133602486	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:133602486C>G	ENST00000253861.4	+	13	2051	c.2022C>G	c.(2020-2022)ttC>ttG	p.F674L	EXOC4_ENST00000539845.1_Missense_Mutation_p.F573L|EXOC4_ENST00000545148.1_Missense_Mutation_p.F284L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	674					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AAGAAGATTTCATAAGGTAAA	0.358000													5	60					0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205306589	205306589	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:205306589C>T	ENST00000367156.3	-	9	1807	c.991G>A	c.(991-993)Gtg>Atg	p.V331M	KLHDC8A_ENST00000460687.1_Missense_Mutation_p.V197M|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.V218M|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.V331M|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.V331M	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	331								p.V331M(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACACCTCCCACGGCGAGGAGG	0.592000													29	180					0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47117173	47117173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr16:47117173G>A	ENST00000562435.1	-	9	1921	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	NETO2_ENST00000303155.5_Nonsense_Mutation_p.R506*	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	513						integral to membrane	receptor activity	p.R513*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				GAATCTTCTCGCCCCCTGACA	0.478000										HNSCC(25;0.065)			16	143					0	0	1	0	0
CXorf48	54967	broad.mit.edu	37	X	134305097	134305097	+	Translation_Start_Site	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:134305097G>A	ENST00000344129.2	-	0	225				CXorf48_ENST00000276241.6_De_novo_Start_InFrame	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					CCTGAGCATCGTCCCAGTTGT	0.632000													15	104					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20177407	20177407	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr20:20177407C>T	ENST00000245957.5	+	16	1860	c.1784C>T	c.(1783-1785)tCc>tTc	p.S595F	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	595										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TACCCAAAATCCAGAGAAGGC	0.468000													9	91					0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99917202	99917202	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:99917202C>T	ENST00000373004.3	+	4	621	c.193C>T	c.(193-195)Cag>Tag	p.Q65*		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	65					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	p.Q65*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						ATTAAATATCCAGGATGGAGA	0.468000													25	101					0	0	1	0	0
CHM	1121	broad.mit.edu	37	X	85119736	85119736	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:85119736A>T	ENST00000357749.2	-	15	1890	c.1861T>A	c.(1861-1863)Tta>Ata	p.L621I	CHM_ENST00000537751.1_Missense_Mutation_p.L473I|CHM_ENST00000467744.1_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	621					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TCTGGCTGTAAACTGTCTCCA	0.478000													8	34					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34927515	34927515	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr21:34927515G>A	ENST00000356577.4	+	3	6453	c.5978G>A	c.(5977-5979)cGc>cAc	p.R1993H	SON_ENST00000290239.6_Missense_Mutation_p.R1993H|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.R1993H|SON_ENST00000300278.4_Missense_Mutation_p.R1993H	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1993	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS].				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						cgtcggagccgcaccccaagc	0.667000													4	52					0	0	1	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													3	11					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070111	141070111	+	RNA	SNP	T	T	C	rs139643347	by1000genomes	TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr9:141070111T>C	ENST00000503395.1	+	0	1191																		p.S75S(1)									CCATGGACTCTGTGCGCTCGG	0.697000													5	104					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412381	139412381	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr9:139412381G>A	ENST00000277541.6	-	8	1339	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	422	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.P422S(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCTCGCAGGGGTTGGCACCT	0.667000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			17	35					0	0	1	0	0
PDXDC1	23042	broad.mit.edu	37	16	15122790	15122790	+	Silent	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr16:15122790G>A	ENST00000396410.4	+	15	1357	c.1260G>A	c.(1258-1260)cgG>cgA	p.R420R	PDXDC1_ENST00000325823.7_Silent_p.R405R|PDXDC1_ENST00000535621.2_Silent_p.R420R|PDXDC1_ENST00000563679.1_Silent_p.R438R|PDXDC1_ENST00000569715.1_Silent_p.R393R|PDXDC1_ENST00000450288.2_Silent_p.R392R|PDXDC1_ENST00000447912.2_Silent_p.R329R|PDXDC1_ENST00000455313.2_Silent_p.R397R	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	420					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	p.R420R(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GAGTCGGCCGGGAGAGGCACT	0.582000													4	60					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995932	140995932	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:140995932G>C	ENST00000285879.4	+	4	3028	c.2742G>C	c.(2740-2742)gaG>gaC	p.E914D	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	914	MAGE.						protein binding	p.E914D(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTGGACGAGTTGGCGCGGT	0.493000										HNSCC(15;0.026)			30	321					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39266304	39266304	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr13:39266304G>C	ENST00000280481.7	+	1	5039	c.4823G>C	c.(4822-4824)gGc>gCc	p.G1608A		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1608					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.G1608A(1)		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)		AAACATGATGGCACTGAGTCA	0.423000													13	119					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149243425	149243425	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:149243425A>C	ENST00000407073.1	+	11	3957	c.2960A>C	c.(2959-2961)cAg>cCg	p.Q987P	MBD5_ENST00000404807.1_Missense_Mutation_p.Q1220P	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	987						chromosome|nucleus	chromatin binding|DNA binding	p.Q987P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAACTTCTCCAGGGGTACCAG	0.443000													9	101					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132915	91132915	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:91132915G>C	ENST00000373094.1	+	2	2521	c.1676G>C	c.(1675-1677)aGc>aCc	p.S559T	PCDH11X_ENST00000373097.1_Missense_Mutation_p.S559T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S559T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.S559T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S559T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S559T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S559T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S559T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S559T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	559	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.S559T(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTCTTTGTAAGCATTATTGAT	0.373000													33	165					0	0	1	0	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139449	90139449	+	RNA	SNP	T	T	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:90139449T>C	ENST00000492446.1	+	0	247																											CTATGCTGCATCCAGTTTGCA	0.522000													21	213					0	0	1	0	0
TOX4	9878	broad.mit.edu	37	14	21961325	21961325	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr14:21961325A>C	ENST00000405508.1	+	8	1826	c.1550A>C	c.(1549-1551)gAg>gCg	p.E517A	TOX4_ENST00000262709.3_Missense_Mutation_p.E517A|TOX4_ENST00000448790.2_Missense_Mutation_p.E494A			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	517	Gln/Pro-rich.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	p.E517A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGTAGTCCTGAGCGGCCTATG	0.507000													13	93					0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100022563	100022563	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:100022563G>A	ENST00000258428.3	-	17	2848	c.2620C>T	c.(2620-2622)Cgg>Tgg	p.R874W	REV1_ENST00000393445.3_Missense_Mutation_p.R873W|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	874					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	p.R874W(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACAGCAGCCCGAAATACTACA	0.398000								Direct reversal of damage					4	26					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117130586	117130586	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr6:117130586T>G	ENST00000310357.3	-	2	410	c.389A>C	c.(388-390)aAg>aCg	p.K130T	GPRC6A_ENST00000368549.3_Missense_Mutation_p.K130T|GPRC6A_ENST00000530250.1_Missense_Mutation_p.K130T	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	130					response to amino acid stimulus		G-protein coupled receptor activity	p.K130T(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATAGTCACACTTAAACTCCAC	0.423000													17	81					0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	114121202	114121202	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr11:114121202G>A	ENST00000335953.4	+	7	2327	c.1947G>A	c.(1945-1947)atG>atA	p.M649I	RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Missense_Mutation_p.M649I|ZBTB16_ENST00000535379.1_3'UTR	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	649					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	p.M649I(2)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGAAGCACATGAAGGGCCACA	0.617000													8	90					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064691	9064691	+	Silent	SNP	T	T	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr19:9064691T>A	ENST00000397910.4	-	3	22958	c.22755A>T	c.(22753-22755)acA>acT	p.T7585T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7587	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7585T(1)|p.T3218T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGACATGGATGTTCTGCTAA	0.488000													16	89					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145641354	145641354	+	Silent	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr5:145641354C>T	ENST00000265271.5	+	13	2341	c.2175C>T	c.(2173-2175)caC>caT	p.H725H	RBM27_ENST00000506502.1_Silent_p.H670H	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	725					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.H725H(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAACAGTGCACGGAGGTATCC	0.478000													21	53					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234078797	234078797	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:234078797A>G	ENST00000359570.5	+	17	1742	c.1742A>G	c.(1741-1743)gAt>gGt	p.D581G	INPP5D_ENST00000538935.1_Missense_Mutation_p.D580G|INPP5D_ENST00000455936.2_Missense_Mutation_p.D345G|INPP5D_ENST00000450745.1_Missense_Mutation_p.D345G			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	593					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	p.D593G(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TACCGTGTGGATCTGCCTACC	0.607000													8	36					0	0	1	0	0
CREB1	1385	broad.mit.edu	37	2	208425875	208425875	+	Silent	SNP	C	C	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:208425875C>A	ENST00000432329.2	+	4	545	c.294C>A	c.(292-294)tcC>tcA	p.S98S	CREB1_ENST00000536726.1_Intron|CREB1_ENST00000353267.3_Intron|CREB1_ENST00000539789.1_Silent_p.S58S|CREB1_ENST00000374397.4_Silent_p.S98S|CREB1_ENST00000430624.1_Intron	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	98					activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|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		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	GACTTTTCTCCGGAACACAGG	0.378000			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""								3	95					1	1	1	1	0
OR12D3	81797	broad.mit.edu	37	6	29342553	29342553	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr6:29342553T>G	ENST00000396806.3	-	1	515	c.512A>C	c.(511-513)aAa>aCa	p.K171T	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K171T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						GTGATTGAGTTTCTGAGAGCC	0.463000													11	61					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153130403	153130403	+	Silent	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:153130403G>A	ENST00000370060.1	-	23	3108	c.2919C>T	c.(2917-2919)ccC>ccT	p.P973P	L1CAM_ENST00000361699.4_Silent_p.P973P|L1CAM_ENST00000543994.1_Silent_p.P975P|L1CAM_ENST00000538883.1_Silent_p.P975P|L1CAM_ENST00000370055.1_Silent_p.P968P|L1CAM_ENST00000370057.3_Silent_p.P973P|L1CAM_ENST00000361981.3_Silent_p.P968P	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	973	Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.P973P(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGAAGTTCGGGGTCCCGAA	0.642000													44	281					0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102290781	102290781	+	Silent	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:102290781G>A	ENST00000370103.4	-	4	606	c.393C>T	c.(391-393)gaC>gaT	p.D131D	OLFM3_ENST00000338858.5_Silent_p.D151D|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000359814.3_Silent_p.D151D|OLFM3_ENST00000536598.1_Silent_p.D56D	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	151						extracellular region		p.D151D(1)|p.D131D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GCAGGAGCTCGTCCATTTTCT	0.408000													4	37					0	0	1	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86328627	86328627	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr6:86328627C>T	ENST00000355238.6	-	10	1395	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	SYNCRIP_ENST00000369622.3_Missense_Mutation_p.E397K	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	397	RRM 3.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	p.E397K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TTTTCTCCCTCCAAGTCTTTG	0.318000													4	51					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147108803	147108803	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr3:147108803C>T	ENST00000383075.3	-	4	1431	c.919G>A	c.(919-921)Gtg>Atg	p.V307M	ZIC4_ENST00000484399.1_Missense_Mutation_p.V307M|ZIC4_ENST00000525172.2_Missense_Mutation_p.V357M|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.V345M|ZIC4_ENST00000473123.1_Missense_Mutation_p.V307M|ZIC4_ENST00000491672.1_Missense_Mutation_p.V101M	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	307						nucleus	DNA binding|zinc ion binding	p.V307M(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GAGGGCGACACGAGGGCAGAC	0.687000													8	41					0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59946709	59946709	+	Silent	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:59946709G>A	ENST00000444766.3	-	22	3162	c.3087C>T	c.(3085-3087)gtC>gtT	p.V1029V	INTS2_ENST00000251334.6_Silent_p.V1021V	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1029					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.V1029V(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GAATACCTGCGACCGTCAGAG	0.373000													7	19					0	0	1	0	0
AXIN2	8313	broad.mit.edu	37	17	63554134	63554134	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:63554134C>T	ENST00000307078.5	-	2	918	c.605G>A	c.(604-606)aGt>aAt	p.S202N	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000375702.5_Missense_Mutation_p.S202N	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	202					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTCTCCCCCACTCCTCACATA	0.488000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				44	58					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41007737	41007737	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:41007737G>T	ENST00000324545.7	+	12	2168	c.1535G>T	c.(1534-1536)tGg>tTg	p.W512L	USP9X_ENST00000378308.2_Missense_Mutation_p.W512L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	512					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.W505L(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AACCTTCTGTGGAATCTGGCT	0.448000													20	140					1.96292e-10	2.25059e-10	1	1	0
TBKBP1	9755	broad.mit.edu	37	17	45777021	45777021	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:45777021C>T	ENST00000361722.3	+	6	1679	c.830C>T	c.(829-831)tCg>tTg	p.S277L		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	277					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						TCCAACCAGTCGGAGCGAGAC	0.572000											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	197					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400848	195400848	+	RNA	SNP	G	G	A	rs7635190	by1000genomes	TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr3:195400848G>A	ENST00000445430.1	+	0	1444																											TCGCAGAGTCGTGCAGGCCTG	0.552000													3	45					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41381991	41381991	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr5:41381991G>T	ENST00000377801.3	-	2	823	c.749C>A	c.(748-750)aCc>aAc	p.T250N	PLCXD3_ENST00000328457.3_Missense_Mutation_p.T250N			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	250					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.T250N(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGCTTTGGGGGTCAGCACCAC	0.468000													14	110					4.36969e-10	4.96726e-10	1	1	0
WNT8B	7479	broad.mit.edu	37	10	102240793	102240793	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr10:102240793G>T	ENST00000343737.5	+	4	408	c.280G>T	c.(280-282)Gct>Tct	p.A94S		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	94					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		CATCAGTTCTGCTGGAGTCAT	0.483000													4	158					1	1	1	1	0
AMOT	154796	broad.mit.edu	37	X	112058641	112058641	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:112058641C>T	ENST00000371959.3	-	2	1336	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q	AMOT_ENST00000304758.1_Missense_Mutation_p.R37Q|AMOT_ENST00000524145.1_Missense_Mutation_p.R446Q|AMOT_ENST00000371958.1_Missense_Mutation_p.R214Q|AMOT_ENST00000371962.1_Missense_Mutation_p.R214Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	446					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CCTCAAGTTCCGGTTCTCGTC	0.498000													75	316					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160050872	160050872	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:160050872A>T	ENST00000263635.6	+	17	3084	c.2847A>T	c.(2845-2847)gaA>gaT	p.E949D	TANC1_ENST00000454300.1_Missense_Mutation_p.E843D	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	949						cell junction|postsynaptic density|postsynaptic membrane	binding	p.E949D(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCCACGAGGAAGTTGTCACTC	0.557000													27	83					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1018137	1018137	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr11:1018137C>T	ENST00000421673.2	-	31	4714	c.4664G>A	c.(4663-4665)aGa>aAa	p.R1555K		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1555	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACAGGGGTTCTGGTGCGTGT	0.572000													40	276					0	0	1	0	0
TMEM243	79161	broad.mit.edu	37	7	86826067	86826067	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:86826067C>T	ENST00000433078.1	-	5	683	c.242G>A	c.(241-243)tGg>tAg	p.W81*	TMEM243_ENST00000481425.1_5'UTR|TMEM243_ENST00000257637.3_Nonsense_Mutation_p.W81*					transmembrane protein 243, mitochondrial									p.W81*(1)									TTGTCGATACCAGTAGATCTA	0.264000													13	47					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6973160	6973160	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr18:6973160G>T	ENST00000389658.3	-	47	6763	c.6670C>A	c.(6670-6672)Caa>Aaa	p.Q2224K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2224	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.Q2224K(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGACTTTTGATTTGAGCTC	0.378000													40	73					2.6416e-12	3.05507e-12	1	1	0
FAM13C	220965	broad.mit.edu	37	10	61028362	61028362	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr10:61028362C>A	ENST00000373867.3	-	9	1109	c.644G>T	c.(643-645)cGg>cTg	p.R215L	FAM13C_ENST00000277705.6_Missense_Mutation_p.R319L|FAM13C_ENST00000442566.3_Missense_Mutation_p.R319L|FAM13C_ENST00000419214.2_Missense_Mutation_p.R298L|FAM13C_ENST00000373868.2_Missense_Mutation_p.R298L|FAM13C_ENST00000422313.2_Missense_Mutation_p.R298L|FAM13C_ENST00000468840.2_Missense_Mutation_p.R215L|FAM13C_ENST00000435852.2_Missense_Mutation_p.R298L	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	298								p.R298L(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCGAATTTTCCGCTTGAGGCT	0.502000													6	52					3.59834e-05	3.89088e-05	1	1	0
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	11					0.115264	0.117024	1	1	0
ZNF184	7738	broad.mit.edu	37	6	27419915	27419915	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr6:27419915T>C	ENST00000211936.6	-	6	1707	c.1423A>G	c.(1423-1425)Aaa>Gaa	p.K475E	ZNF184_ENST00000377419.1_Missense_Mutation_p.K475E	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K475E(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCATTGCATTTGTAAGGTTTT	0.418000													5	80					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113520174	113520174	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:113520174G>T	ENST00000284601.3	-	4	1041	c.973C>A	c.(973-975)Caa>Aaa	p.Q325K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	325					glycogen metabolic process	integral to membrane		p.Q325K(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATTAAGTGTTGATTTATCTTA	0.299000													9	78					0.000274275	0.000289513	1	1	0
ATRX	546	broad.mit.edu	37	X	76872192	76872192	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:76872192C>G	ENST00000373344.5	-	22	5669	c.5455G>C	c.(5455-5457)Gat>Cat	p.D1819H	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.D1781H	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1819					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GCTGTATAATCTTTCCTCTGT	0.303000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						26	108					0	0	1	0	0
KRTAP9-9	81870	broad.mit.edu	37	17	39411940	39411940	+	Silent	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:39411940C>T	ENST00000394008.1	+	1	305	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	101						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGCCAGAGCAGCT	0.617000													5	119					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7586143	7586143	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr12:7586143C>T	ENST00000313599.3	-	3	329	c.272G>A	c.(271-273)tGt>tAt	p.C91Y	CD163L1_ENST00000396630.1_Missense_Mutation_p.C91Y|CD163L1_ENST00000416109.2_Missense_Mutation_p.C91Y			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	91	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGAAAATGGACATCCAAGCTG	0.473000													14	89					0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869403	22869403	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr22:22869403C>G	ENST00000302097.3	-	2	804	c.552G>C	c.(550-552)agG>agC	p.R184S		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R184S(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GGATTCCATCCCTGAGTTTAA	0.448000													19	165					0	0	1	0	0
BBS12	166379	broad.mit.edu	37	4	123664753	123664753	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr4:123664753T>A	ENST00000542236.1	+	3	2087	c.1706T>A	c.(1705-1707)cTg>cAg	p.L569Q	BBS12_ENST00000314218.3_Missense_Mutation_p.L569Q	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	569					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TCAGGGTGGCTGCATAATACT	0.433000									Bardet-Biedl syndrome				7	92					0	0	1	0	0
PRKCZ	5590	broad.mit.edu	37	1	2103541	2103541	+	Missense_Mutation	SNP	G	G	A	rs147033679		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:2103541G>A	ENST00000400921.2	+	9	1243	c.560G>A	c.(559-561)aGg>aAg	p.R187K	PRKCZ_ENST00000400920.1_Missense_Mutation_p.R187K|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	370					anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding	p.R370K(1)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		CTGCACGAGAGGGGGATCATC	0.627000													9	81					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400841	195400841	+	RNA	SNP	C	C	A	rs7615369	by1000genomes	TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr3:195400841C>A	ENST00000445430.1	+	0	1437																											CTGAGCATCGCAGAGTCGTGC	0.552000													3	45					0.00116845	0.00122365	1	1	0
XPO1	7514	broad.mit.edu	37	2	61719223	61719223	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:61719223C>T	ENST00000401558.2	-	16	2561	c.1834G>A	c.(1834-1836)Gat>Aat	p.D612N	XPO1_ENST00000406957.1_Missense_Mutation_p.D612N|XPO1_ENST00000404992.2_Missense_Mutation_p.D612N	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	612	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	p.D612N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AAAATTTCATCAATAAATGGC	0.363000			Mis		CLL								14	87					0	0	1	0	0
SKP1	6500	broad.mit.edu	37	5	133502896	133502896	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr5:133502896G>A	ENST00000353411.6	-	3	319	c.136C>T	c.(136-138)Cct>Tct	p.P46S	SKP1_ENST00000522855.1_Missense_Mutation_p.P46S|SKP1_ENST00000522552.1_Missense_Mutation_p.P46S|SKP1_ENST00000521216.1_Missense_Mutation_p.P46S|SKP1_ENST00000517625.1_Missense_Mutation_p.P46S	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1	46					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.P46S(1)		large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTGGTAGAGGAACTGGGTCA	0.313000													27	75					0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26849287	26849287	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr22:26849287G>A	ENST00000398145.2	-	14	2655	c.2039C>T	c.(2038-2040)tCc>tTc	p.S680F	HPS4_ENST00000493455.2_Intron|HPS4_ENST00000402105.3_Missense_Mutation_p.S675F|HPS4_ENST00000336873.5_Missense_Mutation_p.S680F|HPS4_ENST00000398141.1_Missense_Mutation_p.S693F	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	680					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TGGGAAGCCGGAGCTCCGTGC	0.582000									Hermansky-Pudlak syndrome				7	268					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17353318	17353318	+	Missense_Mutation	SNP	C	C	G	rs150531859	byFrequency	TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr16:17353318C>G	ENST00000261381.6	-	3	524	c.440G>C	c.(439-441)cGa>cCa	p.R147P		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	147					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.R147P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCTGTCTGTTCGCACTTTCTC	0.493000													15	83					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4856927	4856927	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:4856927C>T	ENST00000536091.1	-	6	1642	c.1510G>A	c.(1510-1512)Ggt>Agt	p.G504S	RADIL_ENST00000538469.1_Silent_p.A317A|RADIL_ENST00000399583.3_Silent_p.A557A			Q96JH8	RADIL_HUMAN	Ras association and DIL domains	889	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding	p.A557A(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCTCCAGCACCGCCATGGCCT	0.642000													21	44					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10602732	10602732	+	Silent	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr19:10602732C>T	ENST00000171111.5	-	3	1393	c.846G>A	c.(844-846)caG>caA	p.Q282Q	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Silent_p.Q282Q	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	282	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.Q282Q(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)			GCAGCTGCATCTGCAGGAAGT	0.617000													12	72					0	0	1	0	0
OR7E91P	79315	broad.mit.edu	37	2	71256928	71256928	+	RNA	SNP	A	A	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:71256928A>T	ENST00000434990.1	-	0	61																											TTTCATCTACAGCCTGAGAAA	0.527000													4	17					0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37880352	37880352	+	Silent	SNP	A	A	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr19:37880352A>G	ENST00000436120.2	+	5	1508	c.1401A>G	c.(1399-1401)gaA>gaG	p.E467E	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E467E(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATACCGGAGAAAAGCCCTATG	0.413000													5	64					0	0	1	0	0
RSU1	6251	broad.mit.edu	37	10	16794619	16794619	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr10:16794619G>T	ENST00000377921.3	-	6	818	c.517C>A	c.(517-519)Cct>Act	p.P173T	RSU1_ENST00000345264.5_Missense_Mutation_p.P173T|RSU1_ENST00000602389.1_Missense_Mutation_p.P120T|RSU1_ENST00000464074.2_5'UTR			Q15404	RSU1_HUMAN	Ras suppressor protein 1	173					cell junction assembly|signal transduction	cytosol	protein binding	p.P173T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		ATTTCCTTAGGCAGCGAGATC	0.473000													14	106					1.49906e-05	1.64773e-05	1	1	0
NEK5	341676	broad.mit.edu	37	13	52684698	52684698	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr13:52684698C>A	ENST00000355568.4	-	6	467	c.328G>T	c.(328-330)Gta>Tta	p.V110L		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	110	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.V167L(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GAAATCTGTACAAACCAACCG	0.383000													5	35					0.014758	0.0152156	1	1	0
CCDC74B	91409	broad.mit.edu	37	2	130899886	130899886	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:130899886C>T	ENST00000392984.3	-	2	1413	c.670G>A	c.(670-672)Gga>Aga	p.G224R	CCDC74B_ENST00000310463.6_Missense_Mutation_p.G122R|CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000409943.3_Intron			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	122										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					ACCCACACTCCGTTGATGCAG	0.652000													6	82					0	0	1	0	0
CD53	963	broad.mit.edu	37	1	111434046	111434046	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr1:111434046T>A	ENST00000271324.5	+	2	128	c.16T>A	c.(16-18)Ttg>Atg	p.L6M	CD53_ENST00000429072.2_Missense_Mutation_p.L6M	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	6					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CATGAGTAGCTTGAAACTGCT	0.438000													6	125					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179497431	179497431	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:179497431C>A	ENST00000589042.1	-	235	43526	c.43302G>T	c.(43300-43302)gaG>gaT	p.E14434D	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E12793D|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5494D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5369D|TTN_ENST00000342992.6_Missense_Mutation_p.E11866D|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E5561D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12793	Fibronectin type-III 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E11866D(1)|p.E5561D(1)		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)			ATGTTTTGGGCTCCCTGGATA	0.418000													29	211					3.65163e-15	4.29793e-15	1	1	0
PLXNA3	55558	broad.mit.edu	37	X	153698457	153698457	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:153698457C>T	ENST00000369682.3	+	29	5108	c.4933C>T	c.(4933-4935)Cgt>Tgt	p.R1645C	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1645					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.R1645C(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGAGGGGGACCGTGGCAGCAA	0.627000													21	82					0	0	1	0	0
DHX33	56919	broad.mit.edu	37	17	5357158	5357158	+	Silent	SNP	G	G	A	rs147168886	byFrequency	TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:5357158G>A	ENST00000225296.3	-	7	1490	c.1290C>T	c.(1288-1290)acC>acT	p.T430T	DHX33_ENST00000433302.3_Silent_p.T206T	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	430	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.T430T(1)		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						TCTCTGGCACGGTCATCTTAT	0.562000													18	26					0	0	1	0	0
HOXD13	3239	broad.mit.edu	37	2	176958146	176958146	+	Silent	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr2:176958146C>T	ENST00000392539.3	+	1	528	c.528C>T	c.(526-528)agC>agT	p.S176S		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	176					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		TGGCGAGCAGCAGCGTACCGG	0.622000			T	NUP98	AML*								4	85					0	0	1	0	0
KRT16P6	353194	broad.mit.edu	37	17	16722880	16722880	+	RNA	SNP	A	A	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr17:16722880A>G	ENST00000417510.1	-	0	933																											GGTCCACACCAGGTGCATCGT	0.552000													3	129					0	0	1	0	0
RAB5B	5869	broad.mit.edu	37	12	56380870	56380870	+	Silent	SNP	A	A	G			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr12:56380870A>G	ENST00000360299.5	+	2	347	c.126A>G	c.(124-126)aaA>aaG	p.K42K	RAB5B_ENST00000553116.1_Silent_p.K42K|RAB5B_ENST00000448789.2_Silent_p.K42K	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	42					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	p.K42K(1)		endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			GTTTTGTCAAAGGGCAGTTCC	0.463000													20	30					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126882877	126882877	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:126882877C>A	ENST00000339582.2	-	2	1190	c.382G>T	c.(382-384)Gct>Tct	p.A128S	GRM8_ENST00000444921.2_Missense_Mutation_p.A128S|GRM8_ENST00000405249.1_Missense_Mutation_p.A128S|GRM8_ENST00000358373.3_Missense_Mutation_p.A128S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	128					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.A128P(2)|p.A128S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ACATCCGAAGCATCTTTCTCT	0.502000										HNSCC(24;0.065)			9	81					1.12685e-05	1.24893e-05	1	1	0
LECT2	3950	broad.mit.edu	37	5	135288629	135288629	+	Translation_Start_Site	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr5:135288629C>T	ENST00000512872.1	-	0	198				LECT2_ENST00000514447.2_Missense_Mutation_p.C25Y|LECT2_ENST00000522943.1_Missense_Mutation_p.C25Y|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000274507.1_Missense_Mutation_p.C25Y			O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2						chemotaxis|skeletal system development	cytoplasm|extracellular space		p.C25Y(1)		large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTGCCAGCACATATATTAGC	0.517000													23	133					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188628	140188628	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr5:140188628G>A	ENST00000530339.1	+	1	1856	c.1856G>A	c.(1855-1857)cGc>cAc	p.R619H	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R619H|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R619H	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCGCGCGCATCCCGTTC	0.672000													4	106					0	0	1	0	0
MIR526A1	574475	broad.mit.edu	37	19	54209562	54209562	+	RNA	SNP	C	C	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr19:54209562C>T	ENST00000384897.1	+	0	57					NR_030197.1																						GAAGAGAAAGCGCTTCCTTTT	0.413000													16	94					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141164513	141164514	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr3:141164513_141164514delCA	ENST00000514251.1	+	4	3562_3563	c.3283_3284delCA	c.(3283-3285)cfs	p.H1095fs	ZBTB38_ENST00000321464.5_Frame_Shift_Del_p.H1096fs|ZBTB38_ENST00000441582.2_Frame_Shift_Del_p.H1095fs			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	1095					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AAAGCGTTACCACTGTCAGTTC	0.455													30	87	---	---	---	---					
SEC24D	9871	broad.mit.edu	37	4	119745869	119745870	+	Frame_Shift_Ins	INS	-	-	G	rs141446866		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr4:119745869_119745870insG	ENST00000379735.5	-	3	424_425	c.153_154insC	c.(151-156)acccacfs	p.H52fs	SEC24D_ENST00000280551.6_Frame_Shift_Ins_p.H52fs|SEC24D_ENST00000419654.2_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	52	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CCCCTAGTGGCGGTGGCCCCCA	0.540													7	320	---	---	---	---					
EIF3B	8662	broad.mit.edu	37	7	2416669	2416670	+	Frame_Shift_Ins	INS	-	-	G	rs149919744	by1000genomes	TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr7:2416669_2416670insG	ENST00000360876.4	+	15	2169_2170	c.2113_2114insG	c.(2113-2115)gccfs	p.A705fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.A705fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	705					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GCTGCTGTGGCGGCCCCGGCCT	0.634													9	64	---	---	---	---					
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	GCT	-	rs3055861		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr8:41166638_41166640delGCT	ENST00000220772.3	-	1	376_378	c.39_41delAGC	c.(37-42)gcc>gc	p.AA13del		NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	13					brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACGCCCAGGGCTGCCCCGCGGC	0.764													5	2	---	---	---	---					
ZFAT	57623	broad.mit.edu	37	8	135649949	135649949	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr8:135649949delA	ENST00000520727.1	-	4	466	c.167delT	c.(166-168)tgfs	p.L56fs	ZFAT_ENST00000520356.1_Frame_Shift_Del_p.L56fs|ZFAT_ENST00000377838.3_Frame_Shift_Del_p.L68fs|ZFAT_ENST00000523399.1_Frame_Shift_Del_p.L68fs|ZFAT_ENST00000429442.2_Frame_Shift_Del_p.L56fs|ZFAT_ENST00000520214.1_Frame_Shift_Del_p.L56fs	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	68					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)			CTTCATGACCAAAAACTCTAC	0.517													7	171	---	---	---	---					
PCNXL3	399909	broad.mit.edu	37	11	65385820	65385821	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr11:65385820_65385821insC	ENST00000355703.3	+	6	1526_1527	c.987_988insC	c.(985-990)ggcagcfs	p.S330fs		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	330						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCCCAGGGGGGCCAGCCCCTGA	0.634													10	74	---	---	---	---					
RP11-478C19.2	0	broad.mit.edu	37	12	110868215	110868216	+	RNA	DEL	GT	GT	-	rs113592903		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr12:110868215_110868216delGT	ENST00000550231.1	-	0	97																											CAgtgtgtgcgtgtgtgtgtgt	0.490													4	6	---	---	---	---					
RBM26	64062	broad.mit.edu	37	13	79943084	79943091	+	Frame_Shift_Del	DEL	CTGTTCTA	CTGTTCTA	-			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr13:79943084_79943091delCTGTTCTA	ENST00000438737.2	-	6	1109_1116	c.669_676delTAGAACAG	c.(667-678)gaatfs	p.DRTD223fs	RBM26_ENST00000267229.7_Frame_Shift_Del_p.DRTD223fs|RBM26_ENST00000438724.1_Frame_Shift_Del_p.DRTD223fs			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	223					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TCTAATGGATCTGTTCTATCCAGGTCAT	0.351													8	158	---	---	---	---					
ZSCAN29	146050	broad.mit.edu	37	15	43658711	43658712	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr15:43658711_43658712insT	ENST00000396976.2	-	3	952_953	c.818_819insA	c.(817-819)cagfs	p.Q273fs	ZSCAN29_ENST00000562072.1_Frame_Shift_Ins_p.Q272fs|ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000396972.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	273					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGCTGTTCCTATGGCAGTTTCT	0.545													21	123	---	---	---	---					
LA16c-306E5.3	0	broad.mit.edu	37	16	3546873	3546874	+	RNA	INS	-	-	T			TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr16:3546873_3546874insT	ENST00000574423.2	+	0	111																											tttttcttttcttttttttttt	0.396													2	4	---	---	---	---					
ZCCHC3	85364	broad.mit.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	CGG	-	rs63544660		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr20:278688_278690delCGG	ENST00000382352.3	+	1	952_954	c.461_463delCGG	c.(460-465)ccg>c	p.PA154del		NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	154							nucleic acid binding|zinc ion binding	p.A159delA(3)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGATGAgccggcggcggcggc	0.768													6	4	---	---	---	---					
LINC01399	104310353	broad.mit.edu	37	22	35589697	35589716	+	RNA	DEL	GAGGGCGGGAGGGAAGGGAA	GAGGGCGGGAGGGAAGGGAA	-	rs139654089	by1000genomes	TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chr22:35589697_35589716delGAGGGCGGGAGGGAAGGGAA	ENST00000423311.1	-	0	222																											aggaaggaaggagggcgggagggaagggaagaaggaagga	0.518													4	6	---	---	---	---					
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs72445954		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)cgc>c	p.LR23del	SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	4	---	---	---	---					
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	RNA	INS	-	-	A	rs149262205		TCGA-CN-4742-01A-02D-1512-08	TCGA-CN-4742-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1fa89bda-b719-445a-85d2-76ce8c484b15	8e866e31-5135-4e6f-9f90-29d261fb14a9	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174																											acctgtcccttaaaaaaaaaaa	0.455													5	8	---	---	---	---					
