Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ODZ3	55714	broad.mit.edu	37	4	183673100	183673100	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:183673100G>A	uc003ivd.1	+	18	3852	c.3777G>A	c.(3775-3777)ggG>ggA	p.G1259G	ODZ3_uc003ive.1_Silent_p.G672G	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1259					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TCGTCGCAGGGACAGGGGAGC	0.537000														9			28		0	0	0.000878237	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102509020	102509020	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:102509020C>T	uc001yks.2	+	68	12612	c.12448C>T	c.(12448-12450)Ccg>Tcg	p.P4150S		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	4150	AAA 6 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTTCGAGCCACCGCCAGGGGT	0.582000														36			15		0	0	0.00152264	0	0
DSCAM	1826	broad.mit.edu	37	21	41648035	41648035	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr21:41648035A>T	uc002yyq.1	-	10	2797	c.2345T>A	c.(2344-2346)cTc>cAc	p.L782H	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	782	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTTAACCGTGAGGTACATGGA	0.468000														56			37		0	0	0.00111076	0	0
NDN	4692	broad.mit.edu	37	15	23931501	23931501	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr15:23931501C>T	uc001ywk.3	-	0	950	c.864G>A	c.(862-864)caG>caA	p.Q288Q		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	288	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGGGCCAGGCCTGGGGGTCTT	0.597000									Prader-Willi syndrome					43			33		0	0	0.0024448	0	0
MYBPC2	4606	broad.mit.edu	37	19	50947068	50947068	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:50947068G>A	uc002psf.2	+	10	1179	c.1128G>A	c.(1126-1128)gtG>gtA	p.V376V		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	376	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GTGCCCAGGTGATGTGGTAAG	0.517000														80			69		0	0	0.00361006	0	0
PCLO	27445	broad.mit.edu	37	7	82582174	82582174	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr7:82582174G>A	uc003uhx.2	-	4	8384	c.8095C>T	c.(8095-8097)Cct>Tct	p.P2699S	PCLO_uc003uhv.2_Missense_Mutation_p.P2699S|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2630					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTCTGGAGGAATTGTTATG	0.403000														42			56		0	0	0.00361006	0	0
ECHS1	1892	broad.mit.edu	37	10	135184099	135184099	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr10:135184099G>A	uc001lmu.3	-	1	322	c.251C>T	c.(250-252)gCc>gTc	p.A84V		NM_004092	NP_004083	P30084	ECHM_HUMAN	Homo sapiens enoyl CoA hydratase, short chain, 1, mitochondrial (ECHS1), nuclear gene encoding mitochondrial protein, mRNA.	84				A -> G (in Ref. 1; BAA03001).	fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		GAGGACAATGGCCCCCACGGC	0.627000														2			9		0	0	0.000274275	0	0
BMP5	653	broad.mit.edu	37	6	55638912	55638912	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr6:55638912C>T	uc003pcq.3	-	3	1674	c.962G>A	c.(961-963)cGa>cAa	p.R321Q	BMP5_uc011dxf.2_Missense_Mutation_p.R321Q	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	321					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R321Q(2)|p.R321*(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTGATTTTTTCGTTTGTTGGC	0.478000														63			55		0	0	0.00361006	0	0
ROR2	4920	broad.mit.edu	37	9	94499762	94499762	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr9:94499762C>T	uc004arj.2	-	4	732	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	ROR2_uc004ari.1_Missense_Mutation_p.R38Q|ROR2_uc004ark.3_Missense_Mutation_p.R178Q	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	178	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGCAATTCCCCGGTAAGGCTG	0.532000														12			47		0	0	0.00361006	0	0
KIAA0430	9665	broad.mit.edu	37	16	15719493	15719493	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr16:15719493G>A	uc002ddr.3	-	7	1896	c.1689C>T	c.(1687-1689)cgC>cgT	p.R563R	KIAA0430_uc002ddq.3_Intron|KIAA0430_uc010uzv.2_Silent_p.R560R|KIAA0430_uc010uzw.2_Silent_p.R562R	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	562						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GCTTCTGAGCGCGCTCTGCAC	0.438000														70			70		0	0	0.00361006	0	0
AL117485	0	broad.mit.edu	37	22	18845963	18845963	+	RNA	SNP	C	T	T	rs144351257	by1000genomes	TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr22:18845963C>T	uc002zoe.3	+	4		c.2325C>T			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		GATCTCATCGCGGACACCACT	0.517000														23			5		0	0	0.000442599	0	0
FAM9C	171484	broad.mit.edu	37	X	13056599	13056599	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chrX:13056599C>T	uc004cvh.2	-	6	789	c.462G>A	c.(460-462)aaG>aaA	p.K154K	FAM9C_uc004cvg.3_Silent_p.K154K	NM_174901	NP_777561	Q8IZT9	FAM9C_HUMAN	Homo sapiens family with sequence similarity 9, member C (FAM9C), mRNA.	154						nucleus				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						GTTGCCACCTCTTTTGTTGCT	0.323000														7			30		0	0	0.001512	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633399	70633399	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:70633399C>T	uc001xly.3	-	1	2495	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	SLC8A3_uc001xlw.3_Missense_Mutation_p.E581K|SLC8A3_uc001xlx.3_Missense_Mutation_p.E581K|SLC8A3_uc001xlz.3_Missense_Mutation_p.E581K|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	581	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TATGTGTCTTCAAAGTCCTCA	0.507000														53			34		0	0	0.00128727	0	0
WNT7A	7476	broad.mit.edu	37	3	13896034	13896035	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:13896034_13896035GG>AA	uc003bye.1	-	2	869_870	c.564_565CC>TT	c.(562-567)ggccga>ggTTga	p.R189*		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	189					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CCTACCTTTCGGCCTGCCTCGT	0.584000														131			122		0	0	6.4e-05	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2399055	2399055	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:2399055C>T	uc010xgx.2	+	2	276	c.276C>T	c.(274-276)caC>caT	p.H92H	TMPRSS9_uc002lvv.1_Silent_p.H126H	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	92					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGCTGCACTTTCTGCTGC	0.632000														15			8		0	0	0.000673444	0	0
ERC2	26059	broad.mit.edu	37	3	56044578	56044578	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:56044578C>T	uc021wzo.1	-	7	1959	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N	ERC2_uc003dhr.1_Missense_Mutation_p.D607N|ERC2_uc003dht.1_Missense_Mutation_p.D78N	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	607						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCCCGATCATCTCTTTCTCGC	0.403000														97			56		0	0	0.00361006	0	0
BPTF	2186	broad.mit.edu	37	17	65972002	65972002	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr17:65972002C>T	uc002jgf.3	+	26	8715	c.8654C>T	c.(8653-8655)tCc>tTc	p.S2885F	BPTF_uc002jge.3_Missense_Mutation_p.S2868F|BPTF_uc021uca.1_Missense_Mutation_p.S685F|BPTF_uc002jgg.3_Missense_Mutation_p.S600F|BPTF_uc002jgh.3_Missense_Mutation_p.S402F	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	3011					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding	p.S2885>?(2)|p.S2868>?(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCAAGTGACTCCCCATTTTAC	0.388000														48			61		0	0	0.00361006	0	0
DDX60	55601	broad.mit.edu	37	4	169172186	169172186	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:169172186C>T	uc003irp.3	-	27	4069	c.3777G>A	c.(3775-3777)agG>agA	p.R1259R		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1259	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATCCAATACCCCTTTCTGCCA	0.338000														32			18		0	0	0.00188189	0	0
LPHN3	23284	broad.mit.edu	37	4	62813869	62813869	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:62813869C>T	uc010ihh.3	+	13	2649	c.2476C>T	c.(2476-2478)Cgt>Tgt	p.R826C	LPHN3_uc003hcq.4_Missense_Mutation_p.R826C|LPHN3_uc003hct.3_Missense_Mutation_p.R219C	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	813	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.R826H(1)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTACTCCAAGCGTACAATGAC	0.388000														20			20		0	0	0.000958276	0	0
OR8G2	26492	broad.mit.edu	37	11	124095419	124095419	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr11:124095419G>A	uc010saf.2	+	0	22	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	8						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TTCCTCCGTAGAAACTGACCA	0.468000														4			23		0	0	0.00332997	0	0
MED13L	23389	broad.mit.edu	37	12	116429501	116429502	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:116429501_116429502GG>AA	uc001tvw.3	-	16	3312_3313	c.3257_3258CC>TT	c.(3256-3258)ccc>cTT	p.P1086L		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1086					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GTGTAGTAGAGGGGGTGGAGGC	0.584000														31			23		0	0	6.4e-05	0	0
PEAR1	375033	broad.mit.edu	37	1	156880530	156880530	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:156880530C>T	uc001fqj.1	+	14	2062	c.1946C>T	c.(1945-1947)tCc>tTc	p.S649F	PEAR1_uc001fqk.1_Missense_Mutation_p.S274F	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	649	EGF-like 8.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCGACTGCTCCCAGCGTATG	0.617000														68			28		0	0	0.00111076	0	0
PTPN9	5780	broad.mit.edu	37	15	75798294	75798294	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr15:75798294A>T	uc002bal.3	-	6	1198	c.690T>A	c.(688-690)tgT>tgA	p.C230*		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	230	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTCTGGAAGACACTCCCTGG	0.493000														49			32		0	0	0.00283554	0	0
PRKCG	5582	broad.mit.edu	37	19	54406370	54406370	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:54406370C>T	uc002qcq.1	+	14	1901	c.1619C>T	c.(1618-1620)tCc>tTc	p.S540F	PRKCG_uc010yeg.1_Missense_Mutation_p.S540F|PRKCG_uc010yeh.1_Missense_Mutation_p.S427F	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	540	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GATTGGTGGTCCTTTGGAGTT	0.537000														184			110		0	0	0.00361006	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	T	T	rs121913279		TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:178952085A>T	uc003fjk.3	+	20	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(3170)|p.H1047L(409)|p.H1047Y(46)|p.A1046T(6)|p.H1047Q(3)|p.A1046E(2)|p.H1047P(2)|p.A1046V(2)|p.A1046A(1)|p.H1047T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)				33			26		0	0	0.000720815	0	0
MUC16	94025	broad.mit.edu	37	19	9069895	9069895	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:9069895G>A	uc002mkp.3	-	2	17755	c.17551C>T	c.(17551-17553)Cct>Tct	p.P5851S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5853	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.F5850I(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						GTTACAAAAGGAAAAGTGGAG	0.478000														97			69		0	0	0.00361006	0	0
PTPN1	5770	broad.mit.edu	37	20	49195139	49195139	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr20:49195139C>T	uc002xvl.3	+	5	849	c.675C>T	c.(673-675)ttC>ttT	p.F225F	PTPN1_uc010zys.2_Silent_p.F152F	NM_002827	NP_002818	P18031	PTN1_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 1 (PTPN1), mRNA.	225	Tyrosine-protein phosphatase.				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	CTGGAACCTTCTGTCTGGCTG	0.572000														31			21		0	0	0.00152264	0	0
C11orf30	56946	broad.mit.edu	37	11	76255449	76255449	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr11:76255449G>A	uc001oxl.3	+	18	2999	c.2856G>A	c.(2854-2856)caG>caA	p.Q952Q	C11orf30_uc001oxm.3_Silent_p.Q854Q|C11orf30_uc010rsb.2_Silent_p.Q967Q|C11orf30_uc010rsc.2_Silent_p.Q953Q|C11orf30_uc001oxn.3_Silent_p.Q953Q|C11orf30_uc010rsd.2_Silent_p.Q861Q|C11orf30_uc001oxo.1_Silent_p.Q306Q|C11orf30_uc010rse.2_Silent_p.Q199Q|C11orf30_uc001oxp.3_Silent_p.Q52Q	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	952	Gln-rich.				DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q952H(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CTAAACAGCAGAAACTTAGCC	0.527000														46			23		0	0	0.00278032	0	0
XPO5	57510	broad.mit.edu	37	6	43517301	43517301	+	Silent	SNP	C	G	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr6:43517301C>G	uc003ovp.3	-	16	1996	c.1785G>C	c.(1783-1785)cgG>cgC	p.R595R		NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	Homo sapiens exportin 5 (XPO5), mRNA.	595	Necessary for interaction with ILF3.				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TCCTCACTGCCCGGGTTCTGG	0.498000														57			59		0	0	0.00361006	0	0
GSDMD	79792	broad.mit.edu	37	8	144641624	144641624	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr8:144641624T>G	uc003yyf.3	+	2	306	c.263T>G	c.(262-264)gTg>gGg	p.V88G	GSDMD_uc010mfe.3_Missense_Mutation_p.V40G|GSDMD_uc003yyi.3_Missense_Mutation_p.V40G|GSDMD_uc003yyg.3_Missense_Mutation_p.V40G|GSDMD_uc003yyh.3_Missense_Mutation_p.V40G	NM_024736	NP_079012	P57764	GSDMD_HUMAN	Homo sapiens gasdermin D (GSDMD), transcript variant 1, mRNA.	40										breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						TACTGCCTGGTGGTTAGGAAG	0.587000														76			6		0	0	0.00307968	0	0
ZNF775	285971	broad.mit.edu	37	7	150093761	150093761	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr7:150093761G>A	uc003whf.1	+	2	317	c.192G>A	c.(190-192)ggG>ggA	p.G64G		NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	Homo sapiens zinc finger protein 775 (ZNF775), mRNA.	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGCCCTGGGGGGACAGGAGG	0.706000														14			17		0	0	0.00152264	0	0
MUC5B	727897	broad.mit.edu	37	11	1159302	1159302	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr11:1159302G>A	uc021qbr.1	+	10	1326	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	418	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GAGCTGCCAGGAGGTTCCATG	0.642000														5			23		0	0	0.00188189	0	0
CTSE	1510	broad.mit.edu	37	1	206331020	206331020	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:206331020G>A	uc001hdu.3	+	9	1145	c.1027_splice	c.e9-1	p.D343_splice	CTSE_uc001hdv.3_Splice_Site_p.W295_splice|CTSE_uc010prs.2_Splice_Site_p.W220_splice	NM_001910	NP_001901	P14091	CATE_HUMAN	Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.	348					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CCAACCCACAGGACTTCGTGG	0.567000														237			77		0	0	0.00361006	0	0
LPCAT1	79888	broad.mit.edu	37	5	1470956	1470956	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr5:1470956G>C	uc003jcm.3	-	11	1380	c.1263C>G	c.(1261-1263)atC>atG	p.I421M		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA.	421					phospholipid biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		AAGCCAGCTGGATGGTGTCCA	0.607000														44			38		0	0	0.00321405	0	0
MON2	23041	broad.mit.edu	37	12	62960164	62960164	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:62960164T>A	uc001sre.3	+	28	4648	c.4257T>A	c.(4255-4257)gaT>gaA	p.D1419E	MON2_uc010ssn.2_Missense_Mutation_p.D1413E|MON2_uc009zqj.3_Missense_Mutation_p.D1419E|MON2_uc010ssl.2_Missense_Mutation_p.D1347E|MON2_uc010ssm.2_Missense_Mutation_p.D1390E|MON2_uc001srf.3_Missense_Mutation_p.D1182E|MON2_uc001srg.3_Missense_Mutation_p.D288E	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	1420					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TAGTTGTGGATTTATACCAAA	0.343000														79			54		0	0	0.00361006	0	0
IMPG1	3617	broad.mit.edu	37	6	76712713	76712713	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr6:76712713C>T	uc003pik.1	-	12	1343	c.1213_splice	c.e12-1	p.D405_splice		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	405					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAAGTAGCATCCTGAAGAATG	0.413000														13			22		0	0	0.00229938	0	0
CHERP	10523	broad.mit.edu	37	19	16631005	16631005	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:16631005G>T	uc002nei.1	-	14	2491	c.2417C>A	c.(2416-2418)tCc>tAc	p.S806Y	MED26_uc002nee.2_Intron|C19orf44_uc002neh.1_3'UTR|C19orf44_uc010eai.1_Non-coding_Transcript|CHERP_uc010xpg.1_Missense_Mutation_p.S345Y	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	806	Arg-rich.				RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						TCTTCCTGGGGAGTACGACTT	0.647000														46			33		3.03874e-20	9.63503e-20	0.00327116	1	0
LPCAT1	79888	broad.mit.edu	37	5	1463832	1463832	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr5:1463832G>A	uc003jcm.3	-	13	1656	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	LPCAT1_uc003jcl.3_Silent_p.F87F	NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA.	513					phospholipid biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		AATCGGCACAGAAGCCGTTTG	0.582000														37			24		0	0	0.00278032	0	0
TULP2	7288	broad.mit.edu	37	19	49398348	49398348	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:49398348C>T	uc002pkz.2	-	5	572	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K		NM_003323	NP_003314	O00295	TULP2_HUMAN	Homo sapiens tubby like protein 2 (TULP2), mRNA.	141					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		ACGGAGACTTCCTCCAATTCT	0.527000														32			31		0	0	0.00327116	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857959	9857959	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr16:9857959G>A	uc010uym.2	-	13	3752	c.3442C>T	c.(3442-3444)Ccg>Tcg	p.P1148S	GRIN2A_uc002czo.4_Missense_Mutation_p.P1148S|GRIN2A_uc010uyn.2_Missense_Mutation_p.P991S|GRIN2A_uc002czr.4_Missense_Mutation_p.P1148S	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1148					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TAGGGGTCCGGGAAGTCCACG	0.522000														91			61		0	0	0.00361006	0	0
PASK	23178	broad.mit.edu	37	2	242063468	242063468	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr2:242063468G>A	uc002wao.2	-	10	2933	c.2800C>T	c.(2800-2802)Cac>Tac	p.H934Y	PASK_uc010zol.2_Missense_Mutation_p.H748Y|PASK_uc010zom.2_Missense_Mutation_p.H899Y|PASK_uc010fzl.2_Missense_Mutation_p.H934Y|PASK_uc010zon.2_Missense_Mutation_p.H715Y|PASK_uc021vzf.1_Missense_Mutation_p.H934Y|PASK_uc002wap.3_Missense_Mutation_p.H477Y|PASK_uc002waq.3_Missense_Mutation_p.H934Y	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	934					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CGTTGGCTGTGGAGGAGGTCT	0.637000														27			16		0	0	0.00400662	0	0
LRP2	4036	broad.mit.edu	37	2	170027071	170027071	+	Silent	SNP	T	C	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr2:170027071T>C	uc002ues.3	-	58	11583	c.11370A>G	c.(11368-11370)gaA>gaG	p.E3790E		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3790	LDL-receptor class A 32.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACAGTCCCGTTCATCTGAGT	0.453000														61			58		0	0	0.00361006	0	0
FAT3	120114	broad.mit.edu	37	11	92534248	92534248	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr11:92534248C>T	uc001pdj.4	+	8	8086	c.8069C>T	c.(8068-8070)tCc>tTc	p.S2690F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2690	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTAAAGCACTCCCTCATTCCT	0.448000										TCGA Ovarian(4;0.039)				86			245		0	0	0.00361006	0	0
OR6B1	135946	broad.mit.edu	37	7	143701816	143701816	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr7:143701816C>A	uc003wdt.1	+	0	727	c.727C>A	c.(727-729)Ctt>Att	p.L243I		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TGCCTCCCATCTTGTGGTGGT	0.438000														192			58		3.76628e-20	1.19004e-19	0.00361006	1	0
AIM1	202	broad.mit.edu	37	6	107006410	107006410	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr6:107006410G>A	uc003prh.3	+	15	5453	c.4541G>A	c.(4540-4542)gGa>gAa	p.G1514E	AIM1_uc003pri.3_Missense_Mutation_p.G318E	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1514	Beta/gamma crystallin 'Greek key' 11.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GACTTCAAAGGAAAAAAGATT	0.353000														6			14		0	0	0.00185496	0	0
ZFHX3	463	broad.mit.edu	37	16	72831236	72831236	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr16:72831236A>T	uc002fck.3	-	8	6018	c.5345T>A	c.(5344-5346)aTg>aAg	p.M1782K	ZFHX3_uc002fcl.3_Missense_Mutation_p.M868K	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1782					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCAGTTGTCATGGGGAAGTG	0.567000														17			46		0	0	0.00321405	0	0
C17orf53	78995	broad.mit.edu	37	17	42225822	42225822	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr17:42225822C>T	uc002ifi.2	+	2	888	c.651C>T	c.(649-651)atC>atT	p.I217I	C17orf53_uc010czq.2_Silent_p.I217I|C17orf53_uc002ifj.2_Silent_p.I217I|C17orf53_uc002ifk.1_Non-coding_Transcript	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA.	217										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGCCTGCCATCCACAAAGCGG	0.572000														17			53		0	0	0.00361006	0	0
CSMD1	64478	broad.mit.edu	37	8	3087730	3087730	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr8:3087730C>T	uc022aqr.1	-	26	4567	c.4177G>A	c.(4177-4179)Gat>Aat	p.D1393N	CSMD1_uc011kwj.2_Missense_Mutation_p.D786N|CSMD1_uc003wqe.3_Missense_Mutation_p.D550N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1394	Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATACCTGGATCGTTACAGGTG	0.517000														15			10		0	0	0.000978159	0	0
CCL27	10850	broad.mit.edu	37	9	34661981	34661981	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr9:34661981A>G	uc003zvm.1	-	2	358	c.299T>C	c.(298-300)cTg>cCg	p.L100P		NM_006664	NP_006655	Q9Y4X3	CCL27_HUMAN	Homo sapiens chemokine (C-C motif) ligand 27 (CCL27), mRNA.	100					cell-cell signaling|chemotaxis|immune response	extracellular space	chemokine activity			kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CAGCTTGGGCAGAGTCCCATG	0.493000														28			85		0	0	0.00361006	0	0
SPATA8	145946	broad.mit.edu	37	15	97327454	97327454	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr15:97327454G>A	uc002bue.3	+	1	368	c.161G>A	c.(160-162)gGa>gAa	p.G54E	DQ588115_uc021sxa.1_5'Flank|DQ591967_uc021sxb.1_5'Flank|DQ585716_uc021sxc.1_5'Flank|DQ570416_uc021sxd.1_5'Flank|DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.	54										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GGTGGCCCAGGAGGCCTCAAG	0.577000														50			21		0	0	0.00332997	0	0
YLPM1	56252	broad.mit.edu	37	14	75283735	75283735	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:75283735C>T	uc001xqj.4	+	13	5911	c.5787C>T	c.(5785-5787)atC>atT	p.I1929I	YLPM1_uc001xql.4_Non-coding_Transcript|YLPM1_uc001xqm.1_Silent_p.I412I	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTCCCTTCATCATCCTGGATG	0.398000														14			15		0	0	0.00244969	0	0
TMTC2	160335	broad.mit.edu	37	12	83424584	83424584	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:83424584A>T	uc001szt.3	+	8	2510	c.2078A>T	c.(2077-2079)aAg>aTg	p.K693M	TMTC2_uc010suk.2_Missense_Mutation_p.K448M	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	693						endoplasmic reticulum|integral to membrane	binding	p.K693N(1)|p.R692H(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AAGGGTCGTAAGAGTGAGGCT	0.428000														26			22		0	0	0.00278032	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					81			70		0	0	0.00361006	0	0
OR6B2	389090	broad.mit.edu	37	2	240969565	240969565	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr2:240969565G>A	uc010zoc.2	-	0	282	c.282C>T	c.(280-282)ttC>ttT	p.F94F	OR6B2_uc002vyr.3_Silent_p.F94F	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGCACCCGACGAAAGAGATGC	0.572000														66			20		0	0	0.00188189	0	0
RXRG	6258	broad.mit.edu	37	1	165370608	165370609	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:165370608_165370609GG>AA	uc001gda.3	-	9	1745_1746	c.1283_1284CC>TT	c.(1282-1284)tcc>tTT	p.S428F	RXRG_uc021pea.1_Missense_Mutation_p.S305F	NM_006917	NP_008848	P48443	RXRG_HUMAN	Homo sapiens retinoid X receptor, gamma (RXRG), transcript variant 1, mRNA.	428	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.R427H(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	TCAAGCCAATGGAACGCAGAGC	0.599000														104			35		0	0	6.4e-05	0	0
SLC9A6	10479	broad.mit.edu	37	X	135126865	135126865	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chrX:135126865G>A	uc004ezk.3	+	15	2164	c.2088G>A	c.(2086-2088)acG>acA	p.T696T	SLC9A6_uc011mvx.2_Silent_p.T644T|SLC9A6_uc004ezj.3_Silent_p.T664T	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA.	664					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			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)					TAGATAATACGAGACATGGTC	0.423000														7			35		0	0	0.00128727	0	0
ZP2	7783	broad.mit.edu	37	16	21210907	21210907	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr16:21210907G>A	uc010bwn.1	-	15	2083	c.2001C>T	c.(1999-2001)tcC>tcT	p.S667S	ZP2_uc002dii.2_Silent_p.S637S	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	637					binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	p.S637S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TGTGCCTAGAGGACACAGGGC	0.443000														32			21		0	0	0.00278032	0	0
OR4K1	79544	broad.mit.edu	37	14	20404494	20404494	+	Silent	SNP	C	T	T	rs141997601		TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:20404494C>T	uc001vwj.2	+	0	728	c.669C>T	c.(667-669)atC>atT	p.I223I		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I223I(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCATTTTGATCGGTGTCCGAT	0.423000														26			21		0	0	0.00152264	0	0
DNAH5	1767	broad.mit.edu	37	5	13753548	13753548	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr5:13753548G>A	uc003jfd.2	-	62	10708	c.10666C>T	c.(10666-10668)Cca>Tca	p.P3556S	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3556					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTCCAAATGGAATTTTCCGG	0.403000									Kartagener syndrome					73			49		0	0	0.00361006	0	0
MYT1L	23040	broad.mit.edu	37	2	1843100	1843100	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr2:1843100C>T	uc002qxe.3	-	20	3728	c.2901G>A	c.(2899-2901)ggG>ggA	p.G967G	MYT1L_uc002qxd.3_Silent_p.G965G|MYT1L_uc010ewk.3_5'UTR	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	967					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACGCGTACTTCCCAGTGATGT	0.642000														58			53		0	0	0.00361006	0	0
LOC440041	440041	broad.mit.edu	37	11	55062994	55062994	+	RNA	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr11:55062994C>T	uc021qjb.1	-	2		c.644G>A			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		ATACATTCCTCTTAAAAGCTC	0.428000														16			8		0	0	0.000442599	0	0
KDM2B	84678	broad.mit.edu	37	12	121878938	121878938	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:121878938G>A	uc001uat.3	-	19	3487	c.3383C>T	c.(3382-3384)tCc>tTc	p.S1128F	KDM2B_uc010szy.2_Missense_Mutation_p.S568F|KDM2B_uc001uaq.3_Missense_Mutation_p.S568F|KDM2B_uc001uar.3_Missense_Mutation_p.S719F|KDM2B_uc001uas.3_Missense_Mutation_p.S1059F|KDM2B_uc021rfd.1_Missense_Mutation_p.S1059F|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.S1128F|KDM2B_uc001uao.3_Missense_Mutation_p.S376F|KDM2B_uc010szx.2_Missense_Mutation_p.S376F|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	1128					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GAGGTCGAGGGAGACGGGCTG	0.607000														26			18		0	0	0.00074312	0	0
AP4E1	23431	broad.mit.edu	37	15	51291285	51291285	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr15:51291285G>A	uc001zyx.2	+	18	3028	c.2921G>A	c.(2920-2922)gGa>gAa	p.G974E	AP4E1_uc021skz.1_Missense_Mutation_p.G899E|AP4E1_uc010bex.1_Intron	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	974					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GAGCAACCTGGATGCTGTTTG	0.348000														45			27		0	0	0.00375469	0	0
C1orf168	199920	broad.mit.edu	37	1	57257803	57257803	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:57257803G>A	uc001cym.4	-	1	1089	c.683C>T	c.(682-684)cCa>cTa	p.P228L	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.P228L	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	228										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CTCAGGAGGTGGGTTTTCCCA	0.522000														60			52		0	0	0.00361006	0	0
ZNF711	7552	broad.mit.edu	37	X	84510572	84510572	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chrX:84510572C>T	uc004eeq.3	+	3	1273	c.387C>T	c.(385-387)ttC>ttT	p.F129F	ZNF711_uc004eep.3_Silent_p.F129F|ZNF711_uc004eeo.3_Silent_p.F129F	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	129					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AGCAGGTTTTCGTGGCTGACC	0.448000														19			63		0	0	0.00361006	0	0
SLC22A25	387601	broad.mit.edu	37	11	62933651	62933651	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr11:62933651G>A	uc001nwr.1	-	6	1150	c.1150C>T	c.(1150-1152)Ctc>Ttc	p.L384F	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_3'UTR	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	384					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GCACCAAAGAGAGTCTGCAAC	0.498000														36			12		0	0	0.00185496	0	0
NR1H2	7376	broad.mit.edu	37	19	50881049	50881049	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:50881049C>T	uc010enw.3	+	3	572	c.103C>T	c.(103-105)Ccg>Tcg	p.P35S	NR1H2_uc002prv.4_Non-coding_Transcript|NR1H2_uc002psa.4_Missense_Mutation_p.P35S	NM_007121	NP_009052	P55055	NR1H2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA.	35					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GGAGGAGGGTCCGGAGCCGTG	0.642000														38			28		0	0	0.00209593	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54913106	54913106	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:54913106T>A	uc003dhf.3	+	18	1820	c.1772T>A	c.(1771-1773)gTg>gAg	p.V591E	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.V497E|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.V325E|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	591						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AAGAAGACAGTGGACAAAGGG	0.348000														17			21		0	0	0.00152264	0	0
CNTN1	1272	broad.mit.edu	37	12	41327666	41327666	+	Missense_Mutation	SNP	G	A	A	rs148624625		TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:41327666G>A	uc001rmm.1	+	8	1084	c.971G>A	c.(970-972)aGa>aAa	p.R324K	CNTN1_uc009zjy.2_Missense_Mutation_p.R324K|CNTN1_uc001rmn.1_Missense_Mutation_p.R313K|CNTN1_uc001rmo.3_Missense_Mutation_p.R324K	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	324	Ig-like C2-type 3.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane		p.R324I(2)|p.R324K(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CATCAAGCAAGAATTTATGTT	0.308000														22			22		0	0	0.00152264	0	0
MUC5B	727897	broad.mit.edu	37	11	1262615	1262615	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr11:1262615C>T	uc001lta.3	+	30	4564	c.4505C>T	c.(4504-4506)aCc>aTc	p.T1502I		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1502	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGTACCACCACCTGCCAGCCC	0.642000														3			10		0	0	0.000673444	0	0
CHD6	84181	broad.mit.edu	37	20	40161876	40161876	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr20:40161876C>T	uc002xka.1	-	2	545	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	CHD6_uc002xkd.2_Missense_Mutation_p.E101K|CHD6_uc002xkc.3_Missense_Mutation_p.E158K	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	123	Lys-rich.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCTTTCGGTTCTCGTTTCCTC	0.527000														218			130		0	0	0.00361006	0	0
APBA2	321	broad.mit.edu	37	15	29347005	29347005	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr15:29347005C>T	uc001zck.3	+	2	1122	c.918C>T	c.(916-918)acC>acT	p.T306T	APBA2_uc010azj.2_Silent_p.T306T|APBA2_uc010uat.2_Silent_p.T306T|APBA2_uc001zcl.3_Silent_p.T306T|APBA2_uc010uas.1_Silent_p.T306T	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	306					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGACCAGGACCCCAGAAGAGA	0.672000														17			4		0	0	0.000602214	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773635	35773635	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr6:35773635G>A	uc003olg.1	+	0	565	c.188G>A	c.(187-189)gGc>gAc	p.G63D		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 5 (LHFPL5), mRNA.	63						integral to membrane		p.F62F(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GGCTACTTCGGCCTTTTCTCC	0.592000														82			71		0	0	0.00361006	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50462665	50462665	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:50462665C>T	uc010ybh.2	-	4	1100	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	SIGLEC11_uc010ybi.2_Missense_Mutation_p.E337K	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	337	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AGCCTGTTCTCCGCTCGGCAG	0.662000														45			44		0	0	0.00361006	0	0
ABCC11	85320	broad.mit.edu	37	16	48209175	48209175	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr16:48209175G>A	uc002eff.1	-	24	4042	c.3692C>T	c.(3691-3693)aCc>aTc	p.T1231I	ABCC11_uc002efg.1_Missense_Mutation_p.T1231I|ABCC11_uc002efh.1_Missense_Mutation_p.T1231I|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	1231	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.G1230E(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TCACCTGATGGTTCCTGAGAG	0.602000														10			36		0	0	0.00222228	0	0
TTN	7273	broad.mit.edu	37	2	179655531	179655531	+	Silent	SNP	T	C	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr2:179655531T>C	uc021vsy.1	-	10	1929	c.1704A>G	c.(1702-1704)gtA>gtG	p.V568V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002unb.2_Silent_p.V568V|TTN_uc010frg.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	568							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTGGCAACTACCACCATGG	0.388000														46			36		0	0	0.000953801	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147019213	147019213	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr5:147019213G>A	uc010jgo.1	-	8	1660	c.1512C>T	c.(1510-1512)gaC>gaT	p.D504D	JAKMIP2_uc003loq.1_Silent_p.D504D|JAKMIP2_uc011dbx.1_Silent_p.D462D|JAKMIP2_uc003lor.1_Silent_p.D504D|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	504						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGTTCAGCGTCGATGATGC	0.443000														33			197		0	0	0.00361006	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891976	18891976	+	Silent	SNP	G	A	A	rs139395998	byFrequency	TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:18891976G>A	uc001rdy.3	+	0	932	c.774G>A	c.(772-774)agG>agA	p.R258R	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	258					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TTCTACGAAGGGATCTTCCAG	0.408000														44			33		0	0	0.00428921	0	0
SLC1A3	6507	broad.mit.edu	37	5	36679745	36679745	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr5:36679745A>T	uc003jkj.4	+	6	1353	c.877A>T	c.(877-879)Att>Ttt	p.I293F	SLC1A3_uc011cox.2_Missense_Mutation_p.I186F|SLC1A3_uc010iuy.3_Missense_Mutation_p.I293F	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	293					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	CCCCGTGGGTATTCTCTTCCT	0.507000														94			79		0	0	0.00361006	0	0
HHIPL1	84439	broad.mit.edu	37	14	100118833	100118833	+	Silent	SNP	C	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:100118833C>A	uc010avs.3	+	1	593	c.528C>A	c.(526-528)gcC>gcA	p.A176A	HHIPL1_uc001ygl.1_Silent_p.A176A	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	176					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				ACGTGGTAGCCGATGCCAAGG	0.627000														90			4		0.00116845	0.00361662	0.00116845	1	0
CYP3A7	1551	broad.mit.edu	37	7	99261621	99261621	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr7:99261621C>T	uc003urq.3	-	7	870	c.768G>A	c.(766-768)atG>atA	p.M256I	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_Missense_Mutation_p.M143I|CYP3A7_uc011kiy.2_Missense_Mutation_p.M246I|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	256					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GACTTTTCTTCATTCTGTTTA	0.313000														105			70		0	0	0.00361006	0	0
MYH4	4622	broad.mit.edu	37	17	10369624	10369624	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr17:10369624T>C	uc002gmn.3	-	3	425	c.314A>G	c.(313-315)aAc>aGc	p.N105S	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	105	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTCTTTGAGGTTATACAGCAC	0.453000														65			32		0	0	0.00428921	0	0
KLK11	11012	broad.mit.edu	37	19	51528042	51528042	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:51528042C>T	uc002pvd.1	-	2	257	c.145G>A	c.(145-147)Ggg>Agg	p.G49R	KLK11_uc002pvc.4_Missense_Mutation_p.G17R|KLK11_uc002pve.1_5'UTR|KLK11_uc002pvb.2_Missense_Mutation_p.G17R|KLK11_uc002pvf.1_Missense_Mutation_p.G17R|KLK11_uc010eom.3_Missense_Mutation_p.G17R	NM_144947	NP_006844	Q9UBX7	KLK11_HUMAN	Homo sapiens kallikrein-related peptidase 11 (KLK11), transcript variant 2, mRNA.	49			G -> E (in dbSNP:rs3745539).		proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		GTCTCTCCCCCTACAAGCCCT	0.612000														9			7		0	0	0.00307968	0	0
abParts	0	broad.mit.edu	37	14	106967386	106967386	+	RNA	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:106967386C>T	uc021ser.1	-	263		c.10114G>A								Parts of antibodies, mostly variable regions.																		AATGACAGTCCTCTAAACTGG	0.572000														44			36		0	0	0.00327116	0	0
abParts	0	broad.mit.edu	37	22	22749728	22749728	+	RNA	SNP	A	C	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr22:22749728A>C	uc021wml.1	+	56		c.6412A>C								Parts of antibodies, mostly variable regions.																		CCCGGTTCTCAGGCTCCCTCC	0.552000														41			40		0	0	0.00222228	0	0
INSRR	3645	broad.mit.edu	37	1	156814367	156814367	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:156814367C>T	uc010pht.2	-	13	2923	c.2624G>A	c.(2623-2625)gGa>gAa	p.G875E	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	875	Fibronectin type-III 3.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGGTGGACTCCCCCAAACTT	0.577000														30			12		0	0	0.000978159	0	0
GABRB1	2560	broad.mit.edu	37	4	47322179	47322179	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:47322179G>A	uc003gxh.3	+	4	871	c.497G>A	c.(496-498)cGa>cAa	p.R166Q	GABRB1_uc011bze.2_Missense_Mutation_p.R96Q	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	166					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATGGATCTTCGAAGATATCCA	0.418000														35			30		0	0	0.00428921	0	0
NUCKS1	64710	broad.mit.edu	37	1	205696889	205696889	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:205696889G>A	uc001hdb.3	-	2	383	c.112C>T	c.(112-114)Cga>Tga	p.R38*		NM_022731	NP_073568	Q9H1E3	NUCKS_HUMAN	Homo sapiens nuclear casein kinase and cyclin-dependent kinase substrate 1 (NUCKS1), mRNA.	38						nucleus				endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GGAGATGATCGAATTTTCTTA	0.363000														50			65		0	0	0.00361006	0	0
WDR25	79446	broad.mit.edu	37	14	100992260	100992261	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:100992260_100992261CC>TT	uc010avx.3	+	4	1248_1249	c.1155_1156CC>TT	c.(1153-1158)ctccgg>ctTTgg	p.R386W	WDR25_uc001yhn.3_Missense_Mutation_p.R386W|WDR25_uc010avy.3_Non-coding_Transcript|WDR25_uc001yho.3_Missense_Mutation_p.R129W	NM_001161476	NP_078791	Q64LD2	WDR25_HUMAN	Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA.	386										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				TCCTGTTCCTCCGGGAAGGCTC	0.599000														26			15		0	0	6.4e-05	0	0
SCN3B	55800	broad.mit.edu	37	11	123508986	123508986	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr11:123508986G>A	uc001pza.1	-	4	899	c.492C>T	c.(490-492)atC>atT	p.I164I	SCN3B_uc001pzb.1_Silent_p.I164I	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	164					axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		AGACCAGAAGGATGTACATCA	0.468000														6			27		0	0	0.00209593	0	0
PDCL	5082	broad.mit.edu	37	9	125582721	125582721	+	Silent	SNP	G	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr9:125582721G>T	uc004bmz.2	-	3	740	c.549C>A	c.(547-549)atC>atA	p.I183I		NM_005388	NP_005379	Q13371	PHLP_HUMAN	Homo sapiens phosducin-like (PDCL), mRNA.	183					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TATGAACCATGATGACAATGC	0.463000														7			40		1.59361e-14	5.01794e-14	0.00148497	1	0
SGCZ	137868	broad.mit.edu	37	8	13965704	13965704	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr8:13965704C>T	uc003wwq.3	-	5	1248	c.588G>A	c.(586-588)ccG>ccA	p.P196P	SGCZ_uc010lss.3_Silent_p.P149P	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	183					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.T195T(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CTCTGATGTGCGGCGTCTCCA	0.463000														36			29		0	0	0.00283554	0	0
METTL7B	196410	broad.mit.edu	37	12	56077633	56077633	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:56077633C>T	uc010spr.2	+	1	744	c.535C>T	c.(535-537)Cca>Tca	p.P179S		NM_152637	NP_689850	Q6UX53	MET7B_HUMAN	Homo sapiens methyltransferase like 7B (METTL7B), mRNA.	179							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						TGTGGCAGAACCATATGGAAG	0.552000														52			32		0	0	0.0024448	0	0
TNNT2	7139	broad.mit.edu	37	1	201330443	201330443	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:201330443G>A	uc001gwf.3	-	13	834	c.765C>T	c.(763-765)ttC>ttT	p.F255F	TNNT2_uc009wzn.3_Non-coding_Transcript|TNNT2_uc009wzo.3_Non-coding_Transcript|TNNT2_uc009wzp.3_Non-coding_Transcript|TNNT2_uc021phc.1_Silent_p.F248F|TNNT2_uc001gwg.3_Silent_p.F245F|TNNT2_uc001gwh.3_Silent_p.F236F|TNNT2_uc001gwi.3_Silent_p.F215F|TNNT2_uc009wzr.3_Silent_p.F186F	NM_000364	NP_000355	P45379	TNNT2_HUMAN	Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA.	258					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CCTGCAGGTCGAACTTCTCTG	0.577000											OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		266			147		0	0	0.00361006	0	0
SPATS2L	26010	broad.mit.edu	37	2	201342669	201342669	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr2:201342669C>T	uc010zhc.2	+	12	1805	c.1682C>T	c.(1681-1683)tCa>tTa	p.S561L	SPATS2L_uc002uvn.4_Missense_Mutation_p.S531L|SPATS2L_uc010fst.3_Missense_Mutation_p.S531L|SPATS2L_uc002uvo.4_Missense_Mutation_p.S471L|SPATS2L_uc002uvp.4_Missense_Mutation_p.S531L|SPATS2L_uc002uvq.4_Missense_Mutation_p.S462L|SPATS2L_uc002uvr.4_Missense_Mutation_p.S531L	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2-like (SPATS2L), transcript variant 1, mRNA.	531						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						GGTAGGGTTTCACAGTGCAAT	0.607000														17			16		0	0	0.000566183	0	0
EEF1A1	1915	broad.mit.edu	37	6	74229640	74229640	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr6:74229640C>T	uc003phi.3	-	0	1102	c.110G>A	c.(109-111)aGa>aAa	p.R37K	EEF1A1_uc003phj.3_Missense_Mutation_p.R37K|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Missense_Mutation_p.R37K|EEF1A1_uc003phm.1_Non-coding_Transcript|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	37						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTCAATGGTTCTTTTGTCGAT	0.408000														51			6		0	0	0.00116845	0	0
TFAMP1	260341	broad.mit.edu	37	7	1654791	1654791	+	RNA	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr7:1654791G>A	uc003slb.3	+	0		c.686G>A								Homo sapiens transcription factor A, mitochondrial pseudogene 1 (TFAMP1), non-coding RNA.																		ATGAAAACTGGAAAAATCTGT	0.333000														2			9		0	0	0.000274275	0	0
FAT4	79633	broad.mit.edu	37	4	126412493	126412493	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:126412493C>T	uc003ifj.4	+	16	14516	c.14516C>T	c.(14515-14517)tCt>tTt	p.S4839F	FAT4_uc011cgp.2_Missense_Mutation_p.S3080F|FAT4_uc003ifi.1_Missense_Mutation_p.S2316F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4839					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGAATCCTCTTCTGATAGT	0.468000														26			29		0	0	0.00106085	0	0
ZIC4	84107	broad.mit.edu	37	3	147120535	147120535	+	Missense_Mutation	SNP	C	T	T	rs148365070	by1000genomes	TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:147120535C>T	uc011bno.2	-	1	386	c.200G>A	c.(199-201)cGa>cAa	p.R67Q	ZIC4_uc021xff.1_Missense_Mutation_p.R55Q|ZIC4_uc003ewd.2_Missense_Mutation_p.R17Q|ZIC4_uc021xfg.1_Missense_Mutation_p.R17Q	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	17						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AAGAGTGTTTCGGTAAAGCCG	0.353000														85			56		0	0	0.00361006	0	0
TLN2	83660	broad.mit.edu	37	15	62993406	62993406	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr15:62993406C>T	uc002alb.4	+	13	1689	c.1689C>T	c.(1687-1689)ctC>ctT	p.L563L		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	563					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TTGTTAACCTCACAGCTGGTA	0.393000														32			24		0	0	0.00229938	0	0
ZFAT	57623	broad.mit.edu	37	8	135649716	135649716	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr8:135649716C>A	uc003yup.3	-	2	622	c.436G>T	c.(436-438)Gaa>Taa	p.E146*	ZFAT_uc003yun.3_Nonsense_Mutation_p.E134*|ZFAT_uc003yuo.3_Nonsense_Mutation_p.E134*|ZFAT_uc010meh.3_Nonsense_Mutation_p.E134*|ZFAT_uc010mej.3_Nonsense_Mutation_p.E146*|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Nonsense_Mutation_p.E134*|ZFAT_uc003yur.3_Nonsense_Mutation_p.E134*	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	146					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)			GCTTCTCCTTCCTCCTCACCC	0.473000														76			67		1.37693e-34	4.38115e-34	0.00361006	1	0
CLASP2	23122	broad.mit.edu	37	3	33614720	33614720	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:33614720T>C	uc021wvc.1	-	25	2819	c.2608A>G	c.(2608-2610)Atg>Gtg	p.M870V	CLASP2_uc003cfs.3_Missense_Mutation_p.M69V|CLASP2_uc021wva.1_5'UTR|CLASP2_uc021wvb.1_Missense_Mutation_p.M649V|CLASP2_uc011axt.1_Missense_Mutation_p.M462V	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	870										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GTCTGCCTCATATATGTAGGA	0.428000														182			154		0	0	0.00361006	0	0
SAMSN1	64092	broad.mit.edu	37	21	15889309	15889309	+	Silent	SNP	A	G	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr21:15889309A>G	uc002yju.1	-	2	265	c.183T>C	c.(181-183)aaT>aaC	p.N61N	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Silent_p.N129N	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	61					negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CGCCTCCATTATTTGAAGTTT	0.333000														26			23		0	0	0.00278032	0	0
POLR2C	5432	broad.mit.edu	37	16	57503961	57503961	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr16:57503961G>T	uc002elt.1	+	6	614	c.528G>T	c.(526-528)tgG>tgT	p.W176C		NM_032940	NP_116558	P19387	RPB3_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide C, 33kDa (POLR2C), mRNA.	176					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						ATGCCAAGTGGAACCCTACTG	0.542000														7			13		9.31168e-06	2.90193e-05	0.00185496	1	0
ABCA9	10350	broad.mit.edu	37	17	67047176	67047176	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr17:67047176A>T	uc002jhu.3	-	1	235	c.92T>A	c.(91-93)tTg>tAg	p.L31*	ABCA9_uc010dez.3_Nonsense_Mutation_p.L31*|ABCA9_uc002jhv.3_Nonsense_Mutation_p.L31*	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	31					transport	integral to membrane	ATP binding|ATPase activity	p.L31F(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GCATACCAACAAGGTCTGTCT	0.378000														47			36		0	0	0.00428921	0	0
ZNF831	128611	broad.mit.edu	37	20	57781968	57781968	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr20:57781968G>A	uc002yan.3	+	2	3884	c.3884G>A	c.(3883-3885)gGg>gAg	p.G1295E		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1295						intracellular	nucleic acid binding|zinc ion binding	p.K1294Q(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGTACAAAGGGAATTTCTTG	0.542000														118			70		0	0	0.00361006	0	0
RNLS	55328	broad.mit.edu	37	10	90034768	90034768	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr10:90034768G>A	uc001kfd.2	-	6	1033	c.898C>T	c.(898-900)Cta>Tta	p.L300L	RNLS_uc010qms.1_Silent_p.L217L	NM_018363	NP_060833	Q5VYX0	RNLS_HUMAN	Homo sapiens renalase, FAD-dependent amine oxidase (RNLS), transcript variant 2, mRNA.	0						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						GCACATCCTAGAATCACACCA	0.443000														7			29		0	0	0.00209593	0	0
ATP8A1	10396	broad.mit.edu	37	4	42466710	42466710	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:42466710G>A	uc003gwr.2	-	26	2848	c.2616C>T	c.(2614-2616)atC>atT	p.I872I	ATP8A1_uc003gwq.2_Silent_p.I98I|ATP8A1_uc003gws.2_Silent_p.I857I	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	872					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CTATTACCTCGATAATATAGA	0.299000														42			27		0	0	0.00395357	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58564834	58564834	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:58564834G>A	uc002qrc.1	+	5	889	c.642G>A	c.(640-642)tgG>tgA	p.W214*		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	214					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W214G(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGAGTATCTGGGACGAGCCTG	0.632000														49			31		0	0	0.00283554	0	0
VSTM4	196740	broad.mit.edu	37	10	50255085	50255085	+	Silent	SNP	C	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr10:50255085C>A	uc001jhf.2	-	6	809	c.780G>T	c.(778-780)ccG>ccT	p.P260P		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	260						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TGGGGGCTATCGGAGCTGTGG	0.478000														45			108		5.70617e-39	1.82197e-38	0.00361006	1	0
SLC28A1	9154	broad.mit.edu	37	15	85467334	85467335	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr15:85467334_85467335CC>TT	uc002blg.3	+	11	1278_1279	c.1076_1077CC>TT	c.(1075-1077)tcc>tTT	p.S359F	SLC28A1_uc010upd.1_Missense_Mutation_p.S281F|SLC28A1_uc010bnb.3_Missense_Mutation_p.S359F|SLC28A1_uc010upe.2_Missense_Mutation_p.S359F|SLC28A1_uc010upf.1_Missense_Mutation_p.S359F|SLC28A1_uc010upg.1_Missense_Mutation_p.S359F	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	359					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCTACATCTCCTTTGGGGTAG	0.584000														61			30		0	0	6.4e-05	0	0
DCC	1630	broad.mit.edu	37	18	51025846	51025846	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr18:51025846G>A	uc002lfe.2	+	26	4693	c.4077G>A	c.(4075-4077)ccG>ccA	p.P1359P	DCC_uc010dpf.2_Silent_p.P992P	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1359					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAATAGAACCGAAAGTCCCTT	0.448000														90			57		0	0	0.00361006	0	0
C15orf42	90381	broad.mit.edu	37	15	90168190	90168190	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr15:90168190C>T	uc002boe.3	+	19	4649	c.4649C>T	c.(4648-4650)tCc>tTc	p.S1550F	C15orf42_uc021sug.1_Missense_Mutation_p.S1549F	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1550					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GCTTGGCATTCCACAGACTCT	0.537000														47			25		0	0	0.00395357	0	0
KCNT2	343450	broad.mit.edu	37	1	196459048	196459048	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:196459048G>A	uc001gtd.1	-	2	255	c.195C>T	c.(193-195)ttC>ttT	p.F65F	KCNT2_uc001gte.1_Silent_p.F65F|KCNT2_uc001gtf.1_Silent_p.F65F|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Silent_p.F65F|KCNT2_uc009wyv.1_Silent_p.F65F	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	65						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GAGAAAAATTGAACAGGCGTA	0.303000														76			117		0	0	0.00361006	0	0
SOX10	6663	broad.mit.edu	37	22	38369715	38369715	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr22:38369715G>A	uc003aun.1	-	3	1466	c.1188C>T	c.(1186-1188)tcC>tcT	p.S396S	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Silent_p.S396S	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	396						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					ACTGGGGGCGGGAGATGGAGG	0.632000														28			32		0	0	0.00178596	0	0
OR11H1	81061	broad.mit.edu	37	22	16449062	16449062	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr22:16449062C>T	uc011agd.2	-	0	743	c.743G>A	c.(742-744)gGg>gAg	p.G248E		NM_001005239	NP_001005239	Q8NG94	O11H1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 1 (OR11H1), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G248W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		CTTATGTCTCCCAGTGCTTGA	0.433000														142			96		0	0	0.00361006	0	0
NLRP11	204801	broad.mit.edu	37	19	56320962	56320962	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:56320962G>A	uc010ygf.2	-	4	1725	c.1014C>T	c.(1012-1014)gtC>gtT	p.V338V	NLRP11_uc002qlz.3_Silent_p.V239V|NLRP11_uc002qmb.3_Silent_p.V239V|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	338	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATAAGATGGCGACTCGGCACA	0.532000														19			22		0	0	0.00188189	0	0
FCGR1C	100132417	broad.mit.edu	37	1	149378172	149378172	+	RNA	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:149378172C>T	uc010pbh.2	+	5		c.1213C>T								Homo sapiens Fc fragment of IgG, high affinity Ic, receptor (CD64), pseudogene (FCGR1C), non-coding RNA.																		TCTGGACCGTCCCCTGTCCAC	0.542000														39			12		0	0	0.00185496	0	0
CLSTN2	64084	broad.mit.edu	37	3	140178487	140178487	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:140178487C>T	uc003etn.3	+	6	1288	c.1098C>T	c.(1096-1098)gtC>gtT	p.V366V	CLSTN2_uc003etm.2_Silent_p.V366V	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	366			V -> I (in dbSNP:rs7632885).		homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GTGCCAAAGTCCCCGATGGGA	0.572000										HNSCC(16;0.037)				18			20		0	0	0.00121646	0	0
PRRT1	80863	broad.mit.edu	37	6	32118198	32118198	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr6:32118198G>A	uc003nzu.3	-	3	447	c.182C>T	c.(181-183)cCc>cTc	p.P61L	PRRT1_uc003nzs.3_Missense_Mutation_p.P210S|PRRT1_uc003nzt.3_Missense_Mutation_p.P169S			Q99946	PRRT1_HUMAN	Homo sapiens proline-rich transmembrane protein 1 (PRRT1), mRNA.	169					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						AGCTGCAGGGGGTATCCGGGC	0.706000														20			11		0	0	0.00244969	0	0
GOLGA4	2803	broad.mit.edu	37	3	37340796	37340796	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:37340796G>A	uc003cgv.3	+	8	1380	c.1020G>A	c.(1018-1020)gaG>gaA	p.E340E	GOLGA4_uc010hgr.2_Intron|GOLGA4_uc003cgw.3_Silent_p.E362E|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Silent_p.E221E	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	340	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATATGGCCGAGAAGACTAAAC	0.289000														20			18		0	0	0.00074312	0	0
PCDH1	5097	broad.mit.edu	37	5	141248874	141248874	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr5:141248874C>T	uc003llp.3	-	1	280	c.163G>A	c.(163-165)Ggc>Agc	p.G55S	PCDH1_uc011dbf.2_Missense_Mutation_p.G33S|PCDH1_uc003llq.3_Missense_Mutation_p.G55S	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	55					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GTGGCGTGGCCTGGGGATGGA	0.642000														1			8		0	0	0.000274275	0	0
TLL1	7092	broad.mit.edu	37	4	166929145	166929145	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:166929145G>A	uc003irh.2	+	6	1509	c.862G>A	c.(862-864)Gga>Aga	p.G288R	TLL1_uc021xud.1_Missense_Mutation_p.G288R|TLL1_uc011cjn.2_Missense_Mutation_p.G288R|TLL1_uc011cjo.2_Missense_Mutation_p.G112R	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	288	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AAACTCACTTGGAGAAAGATA	0.393000														45			27		0	0	0.00127121	0	0
MEFV	4210	broad.mit.edu	37	16	3304352	3304352	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr16:3304352C>T	uc002cun.1	-	1	756	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	239					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GCTTCTAGGTCGCATCTTTCC	0.617000														78			75		0	0	0.00361006	0	0
ZNF831	128611	broad.mit.edu	37	20	57828962	57828962	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr20:57828962C>T	uc002yan.3	+	4	4198	c.4198C>T	c.(4198-4200)Cca>Tca	p.P1400S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1400						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGATATTTCTCCATCTGCTGG	0.453000														49			31		0	0	0.00428921	0	0
DNAH5	1767	broad.mit.edu	37	5	13700768	13700768	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr5:13700768C>T	uc003jfd.2	-	77	13746	c.13704G>A	c.(13702-13704)agG>agA	p.R4568R	DNAH5_uc003jfc.2_Silent_p.R736R	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4568					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGCATAAATCCTTATGACAG	0.383000									Kartagener syndrome					75			46		0	0	0.00361006	0	0
ACTL6B	51412	broad.mit.edu	37	7	100246201	100246201	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr7:100246201G>A	uc003uvy.3	-	6	754	c.647C>T	c.(646-648)cCa>cTa	p.P216L	ACTL6B_uc003uvz.3_Non-coding_Transcript	NM_016188	NP_057272	O94805	ACL6B_HUMAN	Homo sapiens actin-like 6B (ACTL6B), mRNA.	216					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	SWI/SNF complex|nBAF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CATGTAAGGTGGGATGATGTC	0.592000														26			19		0	0	0.00121646	0	0
ZNF648	127665	broad.mit.edu	37	1	182026983	182026983	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:182026983G>A	uc001goz.3	-	1	371	c.163C>T	c.(163-165)Cca>Tca	p.P55S	ZNF648_uc021pfu.1_Missense_Mutation_p.P55S	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	55					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CTGCCCCTTGGACAGGCCACC	0.562000														95			32		0	0	0.0024448	0	0
ROS1	6098	broad.mit.edu	37	6	117629985	117629985	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr6:117629985C>T	uc003pxp.1	-	40	6740	c.6541G>A	c.(6541-6543)Gag>Aag	p.E2181K	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2181	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTTGGTGGCTCCAGTCTCCCT	0.393000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									34			4		0	0	0.00024832	0	0
CD163	9332	broad.mit.edu	37	12	7653916	7653916	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:7653916C>T	uc001qsz.3	-	2	404	c.276G>A	c.(274-276)ctG>ctA	p.L92L	CD163_uc001qta.3_Silent_p.L92L|CD163_uc009zfw.2_Silent_p.L92L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	92	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTGGACATCCCAGCTGGTTAC	0.512000														54			47		0	0	0.0025221	0	0
ENTPD3	956	broad.mit.edu	37	3	40456284	40456284	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:40456284G>A	uc003ckd.4	+	5	642	c.550G>A	c.(550-552)Gta>Ata	p.V184I	ENTPD3_uc010hhy.3_Missense_Mutation_p.V184I|ENTPD3-AS1_uc003cke.4_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.	184						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		AGAAGAAGGGGTATATGGATG	0.418000														123			84		0	0	0.00361006	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851592	14851592	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr18:14851592G>A	uc010dlo.2	+	35	3472	c.3292G>A	c.(3292-3294)Gta>Ata	p.V1098I	ANKRD30B_uc021uhy.1_Missense_Mutation_p.V1098I|ANKRD30B_uc010xal.1_Missense_Mutation_p.V240I	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	1183										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAAACTGGAAGTAGCCACACT	0.323000														23			15		0	0	0.00400662	0	0
LOC399753	399753	broad.mit.edu	37	10	49218553	49218553	+	Missense_Mutation	SNP	T	C	C	rs77581903		TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr10:49218553T>C	uc001jgd.3	-	7	1745	c.1586A>G	c.(1585-1587)cAt>cGt	p.H529R	DQ588224_uc001jge.1_5'Flank					Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		ATATTTGGAATGGATCCAGCG	0.567000														10			4		0	0	0.000442599	0	0
IQCH	64799	broad.mit.edu	37	15	67681242	67681242	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr15:67681242C>T	uc002aqo.2	+	11	1627	c.1530C>T	c.(1528-1530)atC>atT	p.I510I	IQCH_uc002aqp.2_Silent_p.I262I|IQCH_uc002aqq.2_Silent_p.I258I	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	510								p.K509K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		ACAAAAAAATCCTAAGTCTAC	0.403000														48			32		0	0	0.0024448	0	0
TTN	7273	broad.mit.edu	37	2	179516450	179516450	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr2:179516450G>A	uc021vsy.1	-	159	32329	c.32104C>T	c.(32104-32106)Cca>Tca	p.P10702S	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11629	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTTTCTGGGACAGGTTTC	0.408000														27			18		0	0	0.00278032	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995558	19995558	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr18:19995558G>A	uc002ktv.1	-	0	2321	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	739	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGGCTGGGGGGAAAAATGCAG	0.498000														11			15		0	0	0.00400662	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24254953	24254953	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr8:24254953C>T	uc003xdz.2	+	5	831	c.611C>T	c.(610-612)tCa>tTa	p.S204L	ADAMDEC1_uc010lub.2_Missense_Mutation_p.S125L|ADAMDEC1_uc011lab.1_Missense_Mutation_p.S125L	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	204					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		ATCTCTAGATCACTCAAAAGC	0.423000														94			54		0	0	0.00361006	0	0
ASXL3	80816	broad.mit.edu	37	18	31320017	31320017	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr18:31320017A>C	uc010dmg.1	+	10	2704	c.2649A>C	c.(2647-2649)ttA>ttC	p.L883F	ASXL3_uc002kxq.2_Missense_Mutation_p.L590F	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	883					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CATTGGAATTATCTGTCTTTT	0.353000														69			41		0	0	0.00361006	0	0
TMEM175	84286	broad.mit.edu	37	4	952010	952010	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:952010G>A	uc003gbq.3	+	10	1339	c.1241G>A	c.(1240-1242)cGg>cAg	p.R414Q	TMEM175_uc003gbs.3_Missense_Mutation_p.R297Q|TMEM175_uc003gbt.3_Missense_Mutation_p.R297Q|TMEM175_uc003gbr.3_Missense_Mutation_p.R332Q	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	414						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TTTGGCGGCCGGGAGCATGTG	0.652000														19			9		0	0	0.000442599	0	0
TCL6	27004	broad.mit.edu	37	14	96136862	96136862	+	RNA	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:96136862C>T	uc001yep.1	+	7		c.1661C>T			TCL6_uc021sbf.1_Non-coding_Transcript|TCL6_uc021sbg.1_Non-coding_Transcript|TCL6_uc021sbh.1_Non-coding_Transcript|TCL6_uc001yet.1_Non-coding_Transcript|TCL6_uc001yeu.2_Non-coding_Transcript|TCL6_uc001yev.2_Intron|TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript					Homo sapiens T-cell leukemia/lymphoma 6 (non-protein coding) (TCL6), non-coding RNA.											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		GTCCTTTTTTCCTTCCTTCTC	0.502000			T	TRA@	T-ALL									22			21		0	0	0.00278032	0	0
ERP27	121506	broad.mit.edu	37	12	15087892	15087892	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:15087892G>T	uc001rco.3	-	2	252	c.231C>A	c.(229-231)agC>agA	p.S77R		NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	Homo sapiens endoplasmic reticulum protein 27 (ERP27), mRNA.	77	Thioredoxin.					endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						TTTGCACCATGCTATGGAGTA	0.443000														29			12		1.08611e-07	3.39642e-07	0.000978159	1	0
DAZL	1618	broad.mit.edu	37	3	16639634	16639634	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:16639634C>T	uc003cba.3	-	2	550	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	DAZL_uc003cbb.3_Missense_Mutation_p.E68K	NM_001190811	NP_001177740	Q92904	DAZL_HUMAN	Homo sapiens deleted in azoospermia-like (DAZL), transcript variant 1, mRNA.	68	Homodimerization (By similarity).|RRM.				germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding|translation activator activity		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						ATCTTCACTTCTTTCACTGAA	0.343000														60			37		0	0	0.00222228	0	0
WFS1	7466	broad.mit.edu	37	4	6303014	6303014	+	Missense_Mutation	SNP	G	A	A	rs71524358		TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:6303014G>A	uc003giy.3	+	7	1658	c.1492G>A	c.(1492-1494)Gtc>Atc	p.V498I	WFS1_uc003gix.3_Missense_Mutation_p.V498I|WFS1_uc003giz.3_Missense_Mutation_p.V316I	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	498					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CCACCTGGTCGTCCTCAACGT	0.592000														311			243		0	0	0.00361006	0	0
GOLGB1	2804	broad.mit.edu	37	3	121416835	121416835	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:121416835C>T	uc010hrc.3	-	12	2661	c.2535G>A	c.(2533-2535)ctG>ctA	p.L845L	GOLGB1_uc003eei.4_Silent_p.L840L|GOLGB1_uc003eej.4_Silent_p.L806L|GOLGB1_uc021xcy.1_Silent_p.L765L|GOLGB1_uc011bjm.1_Silent_p.L726L|GOLGB1_uc010hrd.1_Silent_p.L804L	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	840					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CCTTATTTTGCAGCTGGCTTT	0.433000														83			64		0	0	0.00361006	0	0
OR10H5	284433	broad.mit.edu	37	19	15905601	15905601	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:15905601T>G	uc010xos.2	+	0	743	c.743T>G	c.(742-744)gTg>gGg	p.V248G		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CACCTCACTGTGGTGGTCGTG	0.562000														35			15		0	0	0.00152264	0	0
WRAP53	55135	broad.mit.edu	37	17	7592120	7592120	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr17:7592120C>T	uc010vuh.2	+	1	309	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	WRAP53_uc010vui.2_Missense_Mutation_p.R52W|WRAP53_uc002gip.3_Missense_Mutation_p.R52W|WRAP53_uc002gir.3_Missense_Mutation_p.R52W|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Missense_Mutation_p.R52W|TP53_uc010cni.1_5'Flank|TP53_uc010cnh.1_5'Flank|TP53_uc002gim.2_5'Flank|TP53_uc002gij.2_5'Flank|TP53_uc002gin.2_5'Flank|TP53_uc002gio.2_5'Flank|TP53_uc010vug.2_5'Flank|TP53_uc010cnk.1_5'Flank	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	52	Pro-rich.				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding	p.R52R(2)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GGATCCGCCCCGGTTGTCCCC	0.612000														62			46		0	0	0.00361006	0	0
FES	2242	broad.mit.edu	37	15	91433699	91433699	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr15:91433699C>T	uc002bpv.3	+	9	1424	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	FES_uc010uqj.2_Silent_p.F377F|FES_uc010uqk.2_Silent_p.F417F|FES_uc002bpx.3_Silent_p.F435F|FES_uc002bpy.3_Silent_p.F377F|FES_uc010bny.3_Silent_p.F377F	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	435					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CAGGAATCTTCCGCCCCAAGT	0.617000														104			70		0	0	0.00361006	0	0
DNAH17	8632	broad.mit.edu	37	17	76525716	76525716	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr17:76525716C>T	uc010dhp.2	-	21	3470	c.3345G>A	c.(3343-3345)aaG>aaA	p.K1115K		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTCCCCCTCCTTGAGGGGCT	0.577000														78			31		0	0	0.00375469	0	0
EPHA1	2041	broad.mit.edu	37	7	143095018	143095018	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr7:143095018G>A	uc003wcz.3	-	7	1697	c.1610C>T	c.(1609-1611)cCa>cTa	p.P537L		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	537						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CCCACCTGGTGGGCTGGTCCG	0.557000														75			47		0	0	0.00361006	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														33			5		0	0	0.000602214	0	0
FLG2	388698	broad.mit.edu	37	1	152323828	152323828	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:152323828C>T	uc001ezw.4	-	2	6507	c.6434G>A	c.(6433-6435)gGa>gAa	p.G2145E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2145							calcium ion binding|structural molecule activity	p.Q2144H(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTATAGTTCCCTGTCTCCC	0.507000														203			297		0	0	0.00361006	0	0
ANP32AP1	723972	broad.mit.edu	37	15	35529613	35529613	+	RNA	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr15:35529613G>A	uc001ziy.3	+	0		c.87G>A								Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member A pseudogene 1 (ANP32AP1), non-coding RNA.																		ACAGTCGGTCGAATGAAGGCA	0.488000														82			62		0	0	0.00361006	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200801331	200801331	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:200801331C>T	uc001gvl.3	+	5	952	c.682C>T	c.(682-684)Cgt>Tgt	p.R228C	CAMSAP2_uc001gvk.3_Missense_Mutation_p.R217C|CAMSAP2_uc001gvm.3_Missense_Mutation_p.R217C	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	228	CH.					cytoplasm|microtubule	protein binding										ATCGTAGGCTCGTTATCGGAA	0.343000														39			20		0	0	0.00229938	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:153963239C>T	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGG	0.537000														40			49		0	0	0.00361006	0	0
HTT	3064	broad.mit.edu	37	4	3158844	3158844	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:3158844C>T	uc021xkv.1	+	27	3816	c.3671C>T	c.(3670-3672)tCc>tTc	p.S1224F		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1224					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACAAGTAAATCCTCATCACTG	0.388000														44			23		0	0	0.00188189	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42111090	42111090	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr15:42111090C>T	uc001zok.4	+	20	2530	c.2244C>T	c.(2242-2244)cgC>cgT	p.R748R	MAPKBP1_uc010bci.3_Silent_p.R742R|MAPKBP1_uc010udb.2_Silent_p.R581R|MAPKBP1_uc001zoj.4_Silent_p.R742R|MAPKBP1_uc010bcj.3_Silent_p.R249R|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Silent_p.R249R	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	748										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCGAGTTGCGCCAGCGTCAGC	0.597000														18			26		0	0	0.00395357	0	0
LTBP3	4054	broad.mit.edu	37	11	65309152	65309153	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr11:65309152_65309153CC>TT	uc001oej.3	-	18	2912_2913	c.2643_2644GG>AA	c.(2641-2646)ggggcc>ggAAcc	p.A882T	LTBP3_uc001oef.3_5'UTR|LTBP3_uc001oeg.3_5'UTR|LTBP3_uc001oeh.3_Missense_Mutation_p.A312T|LTBP3_uc010roi.2_Missense_Mutation_p.A765T|LTBP3_uc001oei.3_Missense_Mutation_p.A882T|LTBP3_uc010roj.2_Missense_Mutation_p.A583T|LTBP3_uc010rok.1_Missense_Mutation_p.A793T	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	882	Cys-rich.|EGF-like 9; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TTCTTGCAGGCCCCATGGGGAA	0.624000														32			24		0	0	6.4e-05	0	0
ETV3L	440695	broad.mit.edu	37	1	157067746	157067746	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:157067746A>G	uc001fqq.2	-	3	806	c.521T>C	c.(520-522)aTg>aCg	p.M174T		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	Homo sapiens ets variant 3-like (ETV3L), mRNA.	174						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CTGCTCCACCATGGCCTGATG	0.592000														56			23		0	0	0.00229938	0	0
TPM4	7171	broad.mit.edu	37	19	16186893	16186893	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:16186893A>C	uc002ndi.2	+	1	269	c.151A>C	c.(151-153)Aaa>Caa	p.K51Q	TPM4_uc002ndj.2_5'Flank	NM_001145160	NP_001138632	P67936	TPM4_HUMAN	Homo sapiens tropomyosin 4 (TPM4), transcript variant 1, mRNA.	15					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						GAAGAAACTAAAAGGGACAGA	0.617000			T	ALK	ALCL									8			7		0	0	0.00198382	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147183114	147183114	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr7:147183114T>G	uc003weu.2	+	10	2274	c.1758T>G	c.(1756-1758)agT>agG	p.S586R	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	586	EGF-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.S586R(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGGATACAGTGGGGCCACCT	0.468000										HNSCC(39;0.1)				135			17		0	0	0.00121646	0	0
BCAN	63827	broad.mit.edu	37	1	156627951	156627951	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:156627951C>A	uc001fpp.3	+	11	2661	c.2325C>A	c.(2323-2325)gaC>gaA	p.D775E		NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	775	C-type lectin.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.P774S(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCAGCCTGACAGCTACTTCC	0.587000											OREG0013880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			27		9.39395e-14	2.94776e-13	0.00106085	1	0
MUC16	94025	broad.mit.edu	37	19	9063923	9063923	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:9063923C>T	uc002mkp.3	-	2	23727	c.23523G>A	c.(23521-23523)ggG>ggA	p.G7841G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7843	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						CTGAGCTGGTCCCTTCAGAGC	0.557000														32			29		0	0	0.00127121	0	0
FOLR1	2348	broad.mit.edu	37	11	71907114	71907114	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr11:71907114G>A	uc001orz.2	+	5	943	c.667G>A	c.(667-669)Gag>Aag	p.E223K	FOLR1_uc001osa.2_Missense_Mutation_p.E223K|FOLR1_uc001osb.2_Missense_Mutation_p.E223K|FOLR1_uc001osd.2_Missense_Mutation_p.E223K	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	223					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						CAACCCCAATGAGGAGGTGGC	0.607000														32			36		0	0	0.000953801	0	0
USP10	9100	broad.mit.edu	37	16	84778424	84778424	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr16:84778424A>T	uc010voe.2	+	4	600	c.349A>T	c.(349-351)Atc>Ttc	p.I117F	USP10_uc002fii.3_Missense_Mutation_p.I113F|USP10_uc010vof.2_Intron|USP10_uc002fij.3_5'UTR	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	113					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CTATGGCTCCATCGACTGCCA	0.488000														14			51		0	0	0.00361006	0	0
FCRL4	83417	broad.mit.edu	37	1	157556142	157556142	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:157556142C>T	uc001fqw.3	-	5	1087	c.951G>A	c.(949-951)ggG>ggA	p.G317G	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	317	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				ATGTGGTATCCCCTGTGCCTT	0.617000														61			74		0	0	0.00361006	0	0
LAMA2	3908	broad.mit.edu	37	6	129571294	129571294	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr6:129571294C>T	uc021zfb.1	+	12	1925	c.1820C>T	c.(1819-1821)tCa>tTa	p.S607L	LAMA2_uc003qbn.3_Missense_Mutation_p.S607L|LAMA2_uc003qbo.3_Missense_Mutation_p.S607L	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	607	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTTACCATATCATATGACCTT	0.403000														10			30		0	0	0.00283554	0	0
CFHR2	3080	broad.mit.edu	37	1	196928190	196928190	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:196928190C>T	uc001gtq.1	+	4	870	c.793C>T	c.(793-795)Ccc>Tcc	p.P265S	CFHR2_uc001gtr.1_Missense_Mutation_p.P141S	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	265	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						ACTGGTATATCCCAGTTGTGA	0.299000														47			65		0	0	0.00361006	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060232	35060232	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr20:35060232G>A	uc002xff.3	+	2	547	c.112G>A	c.(112-114)Gag>Aag	p.E38K	DLGAP4_uc010zvp.2_Missense_Mutation_p.E38K	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	38					cell-cell signaling	membrane	protein binding	p.T37T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GTCGCCCACGGAGGCCTTCGC	0.701000														24			16		0	0	0.000958276	0	0
FLG2	388698	broad.mit.edu	37	1	152324077	152324077	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:152324077C>T	uc001ezw.4	-	2	6258	c.6185G>A	c.(6184-6186)gGa>gAa	p.G2062E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2062							calcium ion binding|structural molecule activity	p.G2062*(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACTGAGGATCCTGACTCTCC	0.532000														219			332		0	0	0.00361006	0	0
OTOF	9381	broad.mit.edu	37	2	26698904	26698904	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr2:26698904T>A	uc002rhk.3	-	23	2996	c.2869A>T	c.(2869-2871)Aag>Tag	p.K957*	OTOF_uc010yla.2_5'Flank|OTOF_uc002rhh.3_Nonsense_Mutation_p.K210*|OTOF_uc002rhi.3_Nonsense_Mutation_p.K267*|OTOF_uc002rhj.3_Nonsense_Mutation_p.K210*	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	957	C2 3.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACGCCTGCTTCTCTGTGGGG	0.647000														18			14		0	0	0.00074312	0	0
RNF165	494470	broad.mit.edu	37	18	44013470	44013470	+	Splice_Site	SNP	T	G	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr18:44013470T>G	uc002lcb.1	+	2	428	c.377_splice	c.e2+2	p.R126_splice	RNF165_uc002lby.1_Splice_Site_p.R59_splice|RNF165_uc010dnn.1_Intron	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	126							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GCACCCCAGGTTGGTGCTGCC	0.716000														19			15		0	0	0.000566183	0	0
PPL	5493	broad.mit.edu	37	16	4934734	4934735	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr16:4934734_4934735CC>TT	uc002cyd.1	-	21	4011_4012	c.3921_3922GG>AA	c.(3919-3924)gaggtg>gaAAtg	p.V1308M		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1308					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGAGACGCCACCTCCTCCTTGG	0.545000														136			96		0	0	6.4e-05	0	0
SLC26A9	115019	broad.mit.edu	37	1	205886433	205886433	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:205886433C>T	uc001hdp.3	-	19	2420	c.2306G>A	c.(2305-2307)cGc>cAc	p.R769H	SLC26A9_uc001hdm.3_5'UTR|SLC26A9_uc001hdn.3_5'UTR|SLC26A9_uc001hdo.3_Missense_Mutation_p.R437H|SLC26A9_uc001hdq.3_Missense_Mutation_p.R769H	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	769						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CCAGTAGCTGCGAATGTCCTC	0.577000														259			86		0	0	0.00361006	0	0
DLEC1	9940	broad.mit.edu	37	3	38101312	38101312	+	Silent	SNP	C	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:38101312C>A	uc003chp.1	+	2	663	c.642C>A	c.(640-642)acC>acA	p.T214T	DLEC1_uc003cho.1_Silent_p.T214T|DLEC1_uc010hgv.1_Silent_p.T214T|DLEC1_uc010hgw.1_5'Flank|DLEC1_uc003chq.1_5'Flank	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	214					negative regulation of cell proliferation	cytoplasm		p.T214T(3)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATTACTACACCGATACAGTGC	0.493000														244			6		0.00198382	0.00611957	0.00198382	1	0
MAGEA12	4111	broad.mit.edu	37	X	151900372	151900372	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chrX:151900372G>A	uc022chj.1	-	0	429	c.429C>T	c.(427-429)ttC>ttT	p.F143F	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Silent_p.F143F|MAGEA12_uc022chi.1_Silent_p.F143F|MAGEA12_uc004fgc.3_Silent_p.F143F|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	143	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAGTCCTGGAAATTTCTGA	0.507000														12			81		0	0	0.00361006	0	0
NCDN	23154	broad.mit.edu	37	1	36028075	36028075	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:36028075C>T	uc001bza.3	+	4	1353	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F	NCDN_uc001bzb.3_Missense_Mutation_p.S409F|NCDN_uc001bzc.3_Missense_Mutation_p.S392F	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	409					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAGACCTCATCCTTGCGTAAG	0.627000														30			45		0	0	0.00361006	0	0
SERPINB3	6317	broad.mit.edu	37	18	61310740	61310740	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr18:61310740C>T	uc002ljf.3	-	1	158	c.72G>A	c.(70-72)gaG>gaA	p.E24E	SERPINB3_uc002lje.3_Silent_p.E24E|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	24					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AGATGTTGTTCTCTTTTGATT	0.428000														81			41		0	0	0.00321405	0	0
NDST3	9348	broad.mit.edu	37	4	118975766	118975766	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:118975766T>A	uc003ibx.3	+	1	1104	c.701T>A	c.(700-702)aTa>aAa	p.I234K	NDST3_uc011cgf.1_Missense_Mutation_p.I234K|NDST3_uc003ibw.3_Missense_Mutation_p.I234K	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	234	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CAACCAGTAATATTTGCCAAA	0.388000														62			68		0	0	0.00361006	0	0
SLC6A13	6540	broad.mit.edu	37	12	351819	351819	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:351819C>T	uc001qic.2	-	3	529	c.439G>A	c.(439-441)Gac>Aac	p.D147N	SLC6A13_uc009zdj.2_Missense_Mutation_p.D147N|SLC6A13_uc010sdl.2_Intron|SLC6A13_uc010sdm.1_Missense_Mutation_p.D28N	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	147					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CAGGGCAGGTCGATGGTGAAG	0.552000														17			9		0	0	0.000274275	0	0
ALPK2	115701	broad.mit.edu	37	18	56184333	56184333	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr18:56184333C>T	uc002lhj.4	-	8	5961	c.5747G>A	c.(5746-5748)gGt>gAt	p.G1916D		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1916	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGCGATCTGACCACGCAGGCG	0.542000														34			22		0	0	0.00229938	0	0
NXF5	55998	broad.mit.edu	37	X	101096531	101096531	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chrX:101096531C>T	uc011mrk.1	-	6	601	c.241_splice	c.e6-1	p.I81_splice	NXF5_uc004eih.1_Splice_Site|NXF5_uc004eii.1_Splice_Site|NXF5_uc004eij.1_Splice_Site|NXF5_uc004eik.1_Splice_Site|NXF5_uc004eil.1_Splice_Site	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA.	81	RRM.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						ATATACATATCTGCAGGAAGG	0.473000														18			47		0	0	0.00361006	0	0
TIGD3	220359	broad.mit.edu	37	11	65124566	65124566	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr11:65124566C>T	uc021qlj.1	+	0	1287	c.1287C>T	c.(1285-1287)ccC>ccT	p.P429P	TIGD3_uc001odo.4_Silent_p.P429P	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.	429					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						AGCCCCTGCCCACCAAAGCTG	0.562000														58			27		0	0	0.000878237	0	0
PLCZ1	89869	broad.mit.edu	37	12	18841104	18841104	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:18841104C>T	uc021qvx.1	-	12	1701	c.1510G>A	c.(1510-1512)Ggt>Agt	p.G504S	PLCZ1_uc001rdv.4_Missense_Mutation_p.G400S|PLCZ1_uc001rdw.4_Missense_Mutation_p.G245S|PLCZ1_uc001rdu.1_Missense_Mutation_p.G286S|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	504	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AATGAATCACCTTTGTTAGAT	0.323000														83			62		0	0	0.00361006	0	0
EMG1	10436	broad.mit.edu	37	12	7080097	7080098	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:7080097_7080098CC>TT	uc001qsh.4	+	0	154_155	c.11_12CC>TT	c.(10-12)ccc>cTT	p.P4L	PHB2_uc021quf.1_5'Flank|PHB2_uc021qug.1_5'Flank|PHB2_uc010sft.1_5'Flank|PHB2_uc010sfu.1_5'Flank|EMG1_uc009zfo.2_Non-coding_Transcript|EMG1_uc010sfv.1_Non-coding_Transcript	NM_006331	NP_006322	Q92979	NEP1_HUMAN	Homo sapiens EMG1 nucleolar protein homolog (S. cerevisiae) (EMG1), mRNA.	4					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										ATGGCCGCGCCCAGTGATGGAT	0.550000														9			5		0	0	6.4e-05	0	0
FLG	2312	broad.mit.edu	37	1	152279860	152279860	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:152279860G>A	uc001ezu.1	-	2	7538	c.7502C>T	c.(7501-7503)tCt>tTt	p.S2501F		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2501	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGGCATCAGACCTTCCCTG	0.552000									Ichthyosis					213			309		0	0	0.00361006	0	0
MIR543	100126335	broad.mit.edu	37	14	101498401	101498401	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:101498401C>T	uc021sct.1	+	1		c.78_splice	c.e1+1		MIR495_uc021scu.1_5'Flank|Mir_154_uc021scv.1_5'Flank					Homo sapiens microRNA 543 (MIR543), microRNA.																		TTTTCAGTATCCTATTCTGCC	0.493000														31			18		0	0	0.00121646	0	0
COX11	1353	broad.mit.edu	37	17	53045916	53045916	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr17:53045916C>T	uc010wng.1	-	0	149	c.92G>A	c.(91-93)aGg>aAg	p.R31K	STXBP4_uc010dcc.1_5'Flank|STXBP4_uc002iuf.1_5'Flank|STXBP4_uc010dcd.1_5'Flank|COX11_uc010wne.1_Non-coding_Transcript|COX11_uc010wnf.1_Non-coding_Transcript|COX11_uc002iue.2_Non-coding_Transcript|COX11_uc010wnh.1_Missense_Mutation_p.R31K	NM_004375	NP_004366	Q9Y6N1	COX11_HUMAN	Homo sapiens COX11 cytochrome c oxidase assembly homolog (yeast) (COX11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	31					respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						CGGCTCTACCCTCTCTGCAGC	0.632000														98			42		0	0	0.00170553	0	0
PRSS38	339501	broad.mit.edu	37	1	228005003	228005003	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:228005003G>A	uc001hrh.3	+	2	405	c.405G>A	c.(403-405)gtG>gtA	p.V135V		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	135	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGAACAGGGTGATCCTGCACC	0.557000														61			32		0	0	0.00178596	0	0
CCDC88C	440193	broad.mit.edu	37	14	91779804	91779805	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:91779804_91779805CC>TT	uc010aty.3	-	14	2509_2510	c.2355_2356GG>AA	c.(2353-2358)ttggag>ttAAag	p.E786K		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	786					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGCTCACTCTCCAAGGTCTGCG	0.668000														18			12		0	0	6.4e-05	0	0
FAM102A	399665	broad.mit.edu	37	9	130707123	130707123	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr9:130707123G>A	uc004bsx.2	-	8	1368	c.972C>T	c.(970-972)atC>atT	p.I324I	FAM102A_uc004bsw.1_Silent_p.I182I|FAM102A_uc004bsy.1_Silent_p.I52I	NM_001035254	NP_976050	Q5T9C2	F102A_HUMAN	Homo sapiens family with sequence similarity 102, member A (FAM102A), transcript variant 1, mRNA.	324										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						CATCCGCATCGATCCGCGTGT	0.637000														3			17		0	0	0.00400662	0	0
CACNA1A	773	broad.mit.edu	37	19	13409919	13409919	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:13409919G>A	uc002mwy.3	-	18	2764	c.2528C>T	c.(2527-2529)cCc>cTc	p.P843L	CACNA1A_uc010dzc.2_Missense_Mutation_p.P369L|CACNA1A_uc010xnd.2_Missense_Mutation_p.P846L|CACNA1A_uc021ups.1_Missense_Mutation_p.P843L|CACNA1A_uc010xne.2_Missense_Mutation_p.P846L|CACNA1A_uc010dze.2_Missense_Mutation_p.P843L|CACNA1A_uc021upt.1_Missense_Mutation_p.P844L	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	844					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTCCACGGTGGGCTCGGCCGC	0.706000														14			10		0	0	0.000442599	0	0
C20orf152	140894	broad.mit.edu	37	20	34611616	34611616	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr20:34611616G>A	uc002xer.1	+	10	1506	c.1350G>A	c.(1348-1350)aaG>aaA	p.K450K	C20orf152_uc002xes.1_Intron|C20orf152_uc010gfp.1_Intron	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	454										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					GGATAAGGAAGGAAATATTTT	0.443000														50			39		0	0	0.00128727	0	0
UGGT1	56886	broad.mit.edu	37	2	128930207	128930207	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr2:128930207G>A	uc002tps.3	+	28	3343	c.3165G>A	c.(3163-3165)aaG>aaA	p.K1055K	UGGT1_uc002tpr.3_Silent_p.K1031K	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	1055					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GTTTTGCTAAGGGTCCAATCG	0.383000														49			38		0	0	0.00128727	0	0
DMBT1	1755	broad.mit.edu	37	10	124358342	124358342	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr10:124358342G>A	uc001lgk.1	+	25	3115	c.3009G>A	c.(3007-3009)caG>caA	p.Q1003Q	DMBT1_uc001lgl.1_Silent_p.Q993Q|DMBT1_uc001lgm.1_Silent_p.Q504Q|DMBT1_uc021qaf.1_Silent_p.Q1003Q|DMBT1_uc021qag.1_Silent_p.Q993Q|DMBT1_uc021qah.1_Silent_p.Q504Q|DMBT1_uc009xzz.1_Silent_p.Q1003Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1003	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.C1002F(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACAGGTGTCAGGGCCGAGTGG	0.562000														62			188		0	0	0.00361006	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20211670	20211670	+	Silent	SNP	T	C	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chrX:20211670T>C	uc004czu.3	-	6	528	c.528A>G	c.(526-528)gaA>gaG	p.E176E	RPS6KA3_uc011mjk.2_Silent_p.E147E|RPS6KA3_uc004czv.3_Silent_p.E164E|RPS6KA3_uc011mjl.2_Silent_p.E148E|RPS6KA3_uc011mjm.2_Silent_p.E148E	NM_004586	NP_004577	P51812	KS6A3_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 3 (RPS6KA3), mRNA.	176	Protein kinase 1.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|central nervous system development|innate immune response|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						CAAGTGCAAGTTCAGCCAAGT	0.289000														3			27		0	0	0.0024448	0	0
SLC9C1	285335	broad.mit.edu	37	3	111988825	111988825	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:111988825A>G	uc003dyu.3	-	6	935	c.713T>C	c.(712-714)tTt>tCt	p.F238S	SLC9C1_uc011bhu.2_Intron|SLC9C1_uc010hqc.3_Missense_Mutation_p.F238S	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	238					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										ATCATCACCAAAAACAGTTGA	0.323000														89			74		0	0	0.00361006	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488885	20488885	+	RNA	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr15:20488885G>A	uc001ytf.1	+	1		c.368G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		GTGGACTGCTGGAGTTTAGGA	0.438000														89			14		0	0	0.000566183	0	0
TRIM42	287015	broad.mit.edu	37	3	140401581	140401581	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:140401581G>A	uc003eto.2	+	1	825	c.619G>A	c.(619-621)Gag>Aag	p.E207K		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	207						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCAGCTGCCCGAGAACTACCT	0.617000														48			36		0	0	0.00375469	0	0
CDH22	64405	broad.mit.edu	37	20	44869687	44869687	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr20:44869687G>A	uc002xrm.2	-	1	864	c.465C>T	c.(463-465)atC>atT	p.I155I	CDH22_uc010ghk.1_Silent_p.I155I	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	155	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GCACCTTGATGATGAACTCCG	0.642000														45			30		0	0	0.00283554	0	0
PTPRC	5788	broad.mit.edu	37	1	198703491	198703491	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:198703491G>A	uc001gur.1	+	21	2388	c.2208G>A	c.(2206-2208)agG>agA	p.R736R	PTPRC_uc001gut.1_Silent_p.R575R|PTPRC_uc021pgy.1_Silent_p.R690R|PTPRC_uc010ppg.1_Silent_p.R672R	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	736	Tyrosine-protein phosphatase 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATTTCTGGAGGATGATTTGGG	0.378000														271			391		0	0	0.00361006	0	0
CENPF	1063	broad.mit.edu	37	1	214819327	214819327	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:214819327C>T	uc001hkm.3	+	12	6588	c.6414C>T	c.(6412-6414)atC>atT	p.I2138I		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2234	Interaction with NDE1 and NDEL1.				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGCTGCACATCGCAGAGAAAC	0.478000														68			23		0	0	0.00229938	0	0
TRIO	7204	broad.mit.edu	37	5	14471535	14471535	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr5:14471535G>A	uc003jff.3	+	37	5878	c.5872G>A	c.(5872-5874)Gag>Aag	p.E1958K	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.E1607K	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1958					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCCCATTGATGAGATGGAAGA	0.468000														30			24		0	0	0.00278032	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169550902	169550902	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:169550902T>G	uc003fgb.3	+	3	1461	c.1461T>G	c.(1459-1461)tgT>tgG	p.C487W		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	487										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AAGAAGTGTGTGCTGAAGGCA	0.418000														22			17		0	0	0.000566183	0	0
C8orf80	389643	broad.mit.edu	37	8	27927077	27927077	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr8:27927077C>T	uc003xgm.4	-	3	384	c.241G>A	c.(241-243)Gga>Aga	p.G81R		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	81						nucleus	GTP binding|GTPase activity	p.G81R(6)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		TACTTGACTCCATTAGGGATG	0.413000														57			39		0	0	0.00128727	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735068	41735068	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr22:41735068T>A	uc003azw.3	+	8	905	c.689T>A	c.(688-690)tTc>tAc	p.F230Y		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	246					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ATGCCCCTGTTCCCTCACGTT	0.662000														77			59		0	0	0.00361006	0	0
ABL1	25	broad.mit.edu	37	9	133738217	133738217	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr9:133738217C>T	uc004bzw.3	+	3	620	c.617C>T	c.(616-618)gCc>gTc	p.A206V	ABL1_uc004bzv.3_Missense_Mutation_p.A225V|AX748265_uc004bzx.1_5'Flank	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	206	SH2.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TCAACGGTGGCCGACGGGCTC	0.572000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									11			23		0	0	0.000878237	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	39996	39996	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chrGL000218.1:39996G>A	uc011mfn.2	-	3	410	c.321C>T	c.(319-321)aaC>aaT	p.N107N	LOC100233156_uc003jah.2_Silent_p.N107N					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GTGCCACCACGTTGTGTTCCT	0.592000														16			8		0	0	0.000442599	0	0
FXR2	9513	broad.mit.edu	37	17	7504810	7504810	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr17:7504810G>A	uc002gia.2	-	6	942	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L		NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	193						cytosolic large ribosomal subunit	RNA binding|protein binding	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TCACCCAGCAGAGATGCTCGC	0.493000														124			89		0	0	0.00361006	0	0
SYT15	83849	broad.mit.edu	37	10	46963872	46963872	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr10:46963872C>T	uc001jea.3	-	6	1244	c.1091G>A	c.(1090-1092)aGc>aAc	p.S364N	SYT15_uc001jdz.2_Missense_Mutation_p.S364N|SYT15_uc001jeb.3_Missense_Mutation_p.S242N|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	364	C2 2.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CACAGTCAGGCTGAGGCTAGC	0.592000														34			17		0	0	0.000958276	0	0
ZNF440	126070	broad.mit.edu	37	19	11942603	11942603	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr19:11942603T>A	uc002msp.1	+	3	768	c.612T>A	c.(610-612)ttT>ttA	p.F204L	ZNF440_uc021upk.1_5'Flank	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	Homo sapiens zinc finger protein 440 (ZNF440), mRNA.	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AATGTAAGTTTTGTGGGAAAG	0.368000														83			55		0	0	0.00361006	0	0
WASF1	8936	broad.mit.edu	37	6	110429744	110429744	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr6:110429744G>A	uc003ptv.1	-	5	1246	c.409C>T	c.(409-411)Ctc>Ttc	p.L137F	WASF1_uc003ptw.1_Missense_Mutation_p.L137F|WASF1_uc003ptx.1_Missense_Mutation_p.L137F|WASF1_uc003pty.1_Missense_Mutation_p.L137F|WASF1_uc003ptz.1_Missense_Mutation_p.L137F	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Homo sapiens WAS protein family, member 1 (WASF1), transcript variant 1, mRNA.	137					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		TAAGGAGTGAGTATATTGAGA	0.378000														20			27		0	0	0.00106085	0	0
APOB	338	broad.mit.edu	37	2	21228633	21228633	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr2:21228633G>A	uc002red.3	-	25	11235	c.11107C>T	c.(11107-11109)Cgt>Tgt	p.R3703C		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3703					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.L3702I(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTTGAAACACGAAGATGCTGT	0.413000														317			260		0	0	0.00361006	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654496	38654496	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr10:38654496C>T	uc010qex.1	+	4	663	c.588C>T	c.(586-588)agC>agT	p.S196S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Silent_p.S194S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		AACCCTACAGCTCTTCCAAAT	0.488000														6			13		0	0	0.00244969	0	0
PDGFRA	5156	broad.mit.edu	37	4	55144155	55144155	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:55144155G>A	uc003han.4	+	13	2315	c.1984G>A	c.(1984-1986)Gga>Aga	p.G662R	PDGFRA_uc003haa.3_Missense_Mutation_p.G422R|PDGFRA_uc010igq.1_Missense_Mutation_p.G556R|PDGFRA_uc003ham.2_Non-coding_Transcript|PDGFRA_uc003hao.1_Missense_Mutation_p.G41R	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	662	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AAACTTGCTGGGAGCCTGCAC	0.478000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				27			18		0	0	0.000566183	0	0
TRIM46	80128	broad.mit.edu	37	1	155150687	155150687	+	Silent	SNP	A	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:155150687A>T	uc001fhs.1	+	5	1202	c.1119A>T	c.(1117-1119)acA>acT	p.T373T	TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Silent_p.T373T|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Silent_p.T247T|TRIM46_uc001fhu.1_Silent_p.T350T|TRIM46_uc009wpg.1_Silent_p.T360T|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	373	COS.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTAAGGAAACAGACCAGCCTT	0.607000														49			16		0	0	0.000566183	0	0
CACNA1I	8911	broad.mit.edu	37	22	40056382	40056382	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr22:40056382C>T	uc003ayc.3	+	14	2638	c.2638C>T	c.(2638-2640)Cag>Tag	p.Q880*	CACNA1I_uc003ayd.3_Nonsense_Mutation_p.Q845*|CACNA1I_uc003aye.3_Nonsense_Mutation_p.Q795*|CACNA1I_uc003ayf.3_Nonsense_Mutation_p.Q760*	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	880					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGACGAGGACCAGAGCTCATC	0.577000														17			14		0	0	0.000566183	0	0
TRIM60	166655	broad.mit.edu	37	4	165962255	165962255	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:165962255G>A	uc003iqy.1	+	2	1201	c.1031G>A	c.(1030-1032)aGa>aAa	p.R344K	TRIM60_uc010iqx.1_Missense_Mutation_p.R344K|TRIM60_uc021xty.1_Missense_Mutation_p.R344K	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	344	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GGCTCTCAGAGATTTAGTTCT	0.423000														71			44		0	0	0.00361006	0	0
PNN	5411	broad.mit.edu	37	14	39647049	39647049	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr14:39647049C>T	uc001wuw.4	+	5	524	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W		NM_002687	NP_002678	Q9H307	PININ_HUMAN	Homo sapiens pinin, desmosome associated protein (PNN), mRNA.	143	Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		CTTTAGGAACCGGCGAATATT	0.348000														254			147		0	0	0.00361006	0	0
OR2L3	391192	broad.mit.edu	37	1	248224344	248224344	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:248224344C>T	uc001idx.1	+	0	361	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGCCTATGATCGTTACATTGC	0.443000														195			99		0	0	0.00361006	0	0
EPB41L1	2036	broad.mit.edu	37	20	34797622	34797622	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr20:34797622C>T	uc010gfq.3	+	4	2541	c.2178C>T	c.(2176-2178)gaC>gaT	p.D726D	EPB41L1_uc002xeu.3_Silent_p.D553D|EPB41L1_uc010zvo.1_Silent_p.D627D|EPB41L1_uc002xev.3_Silent_p.D627D|EPB41L1_uc002xew.3_Silent_p.D518D|EPB41L1_uc002xex.3_Intron|EPB41L1_uc002xey.3_Intron|EPB41L1_uc002xez.3_Silent_p.D553D|EPB41L1_uc002xfb.3_Silent_p.D627D	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	627					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TCATTGGTGACTACCATGGCA	0.602000														15			14		0	0	0.00316338	0	0
AGXT2	64902	broad.mit.edu	37	5	35014170	35014170	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr5:35014170C>T	uc003jjf.3	-	9	1261	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	AGXT2_uc003jje.1_5'UTR|AGXT2_uc011com.2_Intron	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	340					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	p.H339H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GGCAGGACATCGTGGGTTTGG	0.502000														50			41		0	0	0.00148497	0	0
PRR16	51334	broad.mit.edu	37	5	120021815	120021815	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr5:120021815A>C	uc003ksq.3	+	1	489	c.326A>C	c.(325-327)cAc>cCc	p.H109P	PRR16_uc003ksp.3_Missense_Mutation_p.H86P|PRR16_uc003ksr.3_Missense_Mutation_p.H39P	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	109	Pro-rich.							p.H86L(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CCCCCAGCACACCCGTCTGCT	0.527000														62			35		0	0	0.00327116	0	0
ENPP6	133121	broad.mit.edu	37	4	185038027	185038028	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:185038027_185038028GG>AA	uc003iwc.3	-	4	978_979	c.836_837CC>TT	c.(835-837)gcc>gTT	p.A279V		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	279					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GTTTCCCAGGGGCCGGCCAAAG	0.554000														17			28		0	0	6.4e-05	0	0
PCDH20	64881	broad.mit.edu	37	13	61987277	61987277	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr13:61987277G>A	uc001vid.4	-	1	1319	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	PCDH20_uc010thj.2_Missense_Mutation_p.L319F	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	292	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TCTGTGAAGAGAGGGCAATTG	0.493000														47			26		0	0	0.00332997	0	0
SCN10A	6336	broad.mit.edu	37	3	38805031	38805031	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:38805031A>G	uc003ciq.3	-	4	656	c.656T>C	c.(655-657)gTt>gCt	p.V219A		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	219					sensory perception	voltage-gated sodium channel complex		p.R218*(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGCTCTAAGAACTCTGAATGT	0.448000														75			48		0	0	0.00361006	0	0
GNL1	2794	broad.mit.edu	37	6	30514975	30514975	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr6:30514975G>A	uc003nqh.3	-	9	2746	c.1355C>T	c.(1354-1356)cCc>cTc	p.P452L	GNL1_uc011dmi.2_Missense_Mutation_p.P249L|GNL1_uc011dmj.2_Missense_Mutation_p.P450L|GNL1_uc011dmk.2_Missense_Mutation_p.P107L	NM_005275	NP_005266	P36915	GNL1_HUMAN	Homo sapiens guanine nucleotide binding protein-like 1 (GNL1), mRNA.	452					T cell mediated immunity|response to DNA damage stimulus|signal transduction	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGCCTGCACGGGAATTCGGGA	0.617000														62			45		0	0	0.0025221	0	0
ERI3	79033	broad.mit.edu	37	1	44804890	44804890	+	Silent	SNP	A	G	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:44804890A>G	uc001clt.3	-	2	557	c.316T>C	c.(316-318)Tta>Cta	p.L106L	ERI3_uc010okv.2_Intron|ERI3_uc010okw.2_Silent_p.L28L	NM_024066	NP_076971	O43414	ERI3_HUMAN	Homo sapiens ERI1 exoribonuclease family member 3 (ERI3), mRNA.	106						intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGAGAAAATAAGTGGGAGCCC	0.512000														122			99		0	0	0.00361006	0	0
HMCN1	83872	broad.mit.edu	37	1	185958751	185958751	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:185958751C>T	uc001grq.1	+	20	3409	c.3180C>T	c.(3178-3180)gcC>gcT	p.A1060A	HMCN1_uc001grr.1_Silent_p.A401A	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1060	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCGGCTACGCCAAAAGGAAAG	0.483000														23			51		0	0	0.00361006	0	0
NBPF10	100132406	broad.mit.edu	37	1	144619399	144619399	+	Silent	SNP	G	A	A	rs4067645	by1000genomes	TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:144619399G>A	uc009wig.1	+	5	734	c.540G>A	c.(538-540)gtG>gtA	p.V180V	NBPF10_uc010oxo.1_Silent_p.V182V|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Silent_p.V113V|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	182								p.A179D(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATGAGAAAGTGCAGAAATCAT	0.413000														368			8		0	0	0.00136819	0	0
IGSF5	150084	broad.mit.edu	37	21	41163987	41163987	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr21:41163987G>A	uc002yyo.3	+	6	1112	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.	337						integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				AAGTGGAAATGAAAACTCCGG	0.398000														14			6		0	0	0.00307968	0	0
KRT4	3851	broad.mit.edu	37	12	53207673	53207674	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:53207673_53207674CC>TT	uc001saz.3	-	0	391_392	c.391_392GG>AA	c.(391-393)ggg>AAg	p.G131K		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	57						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCTTTTGTTCCCCCTGAGGTTG	0.584000														75			60		0	0	6.4e-05	0	0
UBR4	23352	broad.mit.edu	37	1	19477268	19477268	+	Silent	SNP	T	C	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:19477268T>C	uc001bbi.3	-	48	7237	c.7233A>G	c.(7231-7233)ccA>ccG	p.P2411P	UBR4_uc001bbk.1_Silent_p.P65P	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2411					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGACACCTGCTGGATCCACCG	0.498000														107			75		0	0	0.00361006	0	0
GPR143	4935	broad.mit.edu	37	X	9716651	9716651	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chrX:9716651C>T	uc004cst.2	-	3	659	c.511G>A	c.(511-513)Gag>Aag	p.E171K		NM_000273	NP_000264	P51810	GP143_HUMAN	Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.	171					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	Golgi apparatus|apical plasma membrane|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	L-DOPA receptor activity|dopamine binding|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				GCGGCTCCCTCCACACAGAGC	0.602000														11			31		0	0	0.00327116	0	0
TOX2	84969	broad.mit.edu	37	20	42679948	42679948	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr20:42679948C>T	uc010ggo.3	+	3	454	c.414C>T	c.(412-414)atC>atT	p.I138I	TOX2_uc002xle.4_Silent_p.I96I|TOX2_uc010ggp.3_Silent_p.I96I|TOX2_uc002xlf.4_Silent_p.I147I|TOX2_uc010zwk.2_Silent_p.I16I	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TCTCTTAGATCCAGGAGATGG	0.607000														27			22		0	0	0.00278032	0	0
STK10	6793	broad.mit.edu	37	5	171520823	171520823	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr5:171520823A>C	uc003mbo.1	-	8	1447	c.1147T>G	c.(1147-1149)Tct>Gct	p.S383A		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	383							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTGTCCCCAGAGGGCTGGCTG	0.642000														45			27		0	0	0.000720815	0	0
TNIK	23043	broad.mit.edu	37	3	170805189	170805189	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:170805189G>A	uc003fhh.2	-	23	3173	c.2828C>T	c.(2827-2829)cCg>cTg	p.P943L	TNIK_uc003fhi.2_Missense_Mutation_p.P888L|TNIK_uc003fhj.2_Missense_Mutation_p.P914L|TNIK_uc003fhk.2_Missense_Mutation_p.P935L|TNIK_uc003fhl.2_Missense_Mutation_p.P859L|TNIK_uc003fhm.2_Missense_Mutation_p.P880L|TNIK_uc003fhn.2_Missense_Mutation_p.P906L|TNIK_uc003fho.2_Missense_Mutation_p.P851L|TNIK_uc003fhg.2_Missense_Mutation_p.P121L	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	943	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCCCTCAGTCGGGGTTCCAGC	0.582000														59			44		0	0	0.0025221	0	0
TRPM6	140803	broad.mit.edu	37	9	77377706	77377706	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr9:77377706C>T	uc004ajl.1	-	25	4119	c.3881G>A	c.(3880-3882)aGa>aAa	p.R1294K	TRPM6_uc004ajk.1_Missense_Mutation_p.R1289K|TRPM6_uc022bib.1_Missense_Mutation_p.R1289K|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.R250K	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1294					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCTCTGCACTCTTGGGGGATG	0.478000														31			86		0	0	0.00361006	0	0
PLXND1	23129	broad.mit.edu	37	3	129288764	129288764	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr3:129288764G>C	uc003emx.2	-	19	3887	c.3787C>G	c.(3787-3789)Ctg>Gtg	p.L1263V	PLXND1_uc011blb.1_5'Flank	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1263					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCCAGCTGCAGTGTGGCGATG	0.587000														31			25		0	0	0.00106085	0	0
NCOR1	9611	broad.mit.edu	37	17	16089914	16089914	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr17:16089914G>A	uc002gpo.3	-	2	465	c.196C>T	c.(196-198)Cga>Tga	p.R66*	NCOR1_uc002gpn.3_Nonsense_Mutation_p.R66*|NCOR1_uc002gpp.1_Intron|NCOR1_uc002gpr.3_Intron|NCOR1_uc002gps.2_Nonsense_Mutation_p.R66*|NCOR1_uc010cpb.2_Nonsense_Mutation_p.R66*|NCOR1_uc010coz.2_5'UTR|NCOR1_uc010cpa.2_Nonsense_Mutation_p.R66*|NCOR1_uc002gpu.3_Nonsense_Mutation_p.R66*	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	66	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.R66R(2)|p.R66Q(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGTCGCCTTCGAAGCTGTTGC	0.413000														42			35		0	0	0.00375469	0	0
TBX3	6926	broad.mit.edu	37	12	115114221	115114221	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr12:115114221C>T	uc001tvt.1	-	5	1960	c.996G>A	c.(994-996)gaG>gaA	p.E332E	TBX3_uc001tvu.1_Silent_p.E312E	NM_016569	NP_057653	O15119	TBX3_HUMAN	Homo sapiens T-box 3 (TBX3), transcript variant 2, mRNA.	332					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		AGGTCCCATTCTCCTTTTTGT	0.502000														62			60		0	0	0.00361006	0	0
APOB	338	broad.mit.edu	37	2	21236046	21236046	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr2:21236046G>A	uc002red.3	-	24	4330	c.4202C>T	c.(4201-4203)tCc>tTc	p.S1401F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1401					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CACATTGTAGGAAAGCAGGTC	0.547000														263			179		0	0	0.00361006	0	0
KIF16B	55614	broad.mit.edu	37	20	16359843	16359843	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr20:16359843G>A	uc002wpg.2	-	18	2963	c.2804C>T	c.(2803-2805)cCt>cTt	p.P935L	KIF16B_uc002wpe.1_Missense_Mutation_p.P317L|KIF16B_uc002wpf.1_Missense_Mutation_p.P317L|KIF16B_uc010gch.2_Missense_Mutation_p.P935L|KIF16B_uc010gci.2_Missense_Mutation_p.P935L|KIF16B_uc010gcj.2_Missense_Mutation_p.P946L	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	935	Glu-rich.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TAAGCTGAGAGGGCCTCTGTC	0.433000														55			39		0	0	0.00111076	0	0
PLRG1	5356	broad.mit.edu	37	4	155465644	155465644	+	Missense_Mutation	SNP	G	A	A	rs114473975	byFrequency	TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr4:155465644G>A	uc003iny.3	-	6	672	c.547C>T	c.(547-549)Cct>Tct	p.P183S	PLRG1_uc003inz.3_Missense_Mutation_p.P174S|PLRG1_uc011cil.2_Missense_Mutation_p.P22S	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	183						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	p.P183S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				GGCATTGTAGGGGCTTTTTTA	0.403000														46			30		0	0	0.0024448	0	0
MTUS2	23281	broad.mit.edu	37	13	29600485	29600485	+	Silent	SNP	A	G	G			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr13:29600485A>G	uc001usl.4	+	0	1738	c.1680A>G	c.(1678-1680)acA>acG	p.T560T		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	550						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCCTACAACACCCAGTAGCA	0.502000														66			42		0	0	0.00222228	0	0
SYCP1	6847	broad.mit.edu	37	1	115537573	115537573	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr1:115537573G>A	uc001efr.3	+	31	3073	c.2864G>A	c.(2863-2865)cGt>cAt	p.R955H	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.R955H|SYCP1_uc009wgw.3_Missense_Mutation_p.R930H	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	955					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGGAGGACCGTTGGGCTGTA	0.343000														62			45		0	0	0.00321405	0	0
CASP4	837	broad.mit.edu	37	11	104825688	104825688	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr11:104825688G>A	uc001pid.1	-	1	121	c.48C>T	c.(46-48)tcC>tcT	p.S16S	CASP4_uc001pib.1_5'UTR|CASP4_uc009yxg.1_5'UTR|CASP4_uc010rux.1_Silent_p.S16S|CASP4_uc010ruy.1_Silent_p.S16S	NM_001225	NP_150649	P49662	CASP4_HUMAN	Homo sapiens caspase 4, apoptosis-related cysteine peptidase (CASP4), transcript variant alpha, mRNA.	16	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CTTTGCCCAGGGATTCCAACA	0.388000														8			36		0	0	0.00283554	0	0
AIPL1	23746	broad.mit.edu	37	17	6337259	6337259	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr17:6337259C>T	uc002gcp.3	-	1	351	c.256G>A	c.(256-258)Gag>Aag	p.E86K	AIPL1_uc021toq.1_Missense_Mutation_p.E47K|AIPL1_uc002gcq.3_Intron|AIPL1_uc002gcr.3_Missense_Mutation_p.E86K|AIPL1_uc010clk.3_Missense_Mutation_p.E64K|AIPL1_uc010cll.3_Missense_Mutation_p.E86K|AIPL1_uc021tor.1_Missense_Mutation_p.E86K|AIPL1_uc002gcs.3_Missense_Mutation_p.E86K	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA.	86	PPIase FKBP-type.				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CACCAGAACTCGGCCACCTCG	0.602000														14			8		0	0	0.00307968	0	0
DNAH9	1770	broad.mit.edu	37	17	11687826	11687826	+	Silent	SNP	C	T	T			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr17:11687826C>T	uc002gne.3	+	40	8099	c.8031C>T	c.(8029-8031)ttC>ttT	p.F2677F	DNAH9_uc010coo.3_Silent_p.F1971F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2677	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACTACATCTTCAACCTCAGAG	0.478000														80			68		0	0	0.00361006	0	0
ZNF711	7552	broad.mit.edu	37	X	84526085	84526085	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chrX:84526085G>A	uc004eeq.3	+	9	2561	c.1675G>A	c.(1675-1677)Ggt>Agt	p.G559S	ZNF711_uc004eep.3_Missense_Mutation_p.G513S|ZNF711_uc004eeo.3_Missense_Mutation_p.G513S|ZNF711_uc011mqy.1_Missense_Mutation_p.G112S	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	513					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GTGTGGGAAGGGTTTTCGACA	0.413000														1			30		0	0	0.00178596	0	0
PI4KAP1	728233	broad.mit.edu	37	22	20386745	20386745	+	RNA	SNP	T	C	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr22:20386745T>C	uc010gsf.1	-	11		c.1767A>G			PI4KAP1_uc010gsg.2_Intron|PI4KAP1_uc011ahn.1_Intron					Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 (PI4KAP1), non-coding RNA.																		TGGTCTGTTTTGAGGAGTGGA	0.577000														9			4		0	0	0.00307968	0	0
GUCY2F	2986	broad.mit.edu	37	X	108684598	108684598	+	Silent	SNP	G	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chrX:108684598G>A	uc022cch.1	-	5	1768	c.1683C>T	c.(1681-1683)tcC>tcT	p.S561S	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Silent_p.S561S	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	561	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCGCTATGTTGGAGTTTTCAT	0.413000														24			96		0	0	0.00361006	0	0
ATXN1	6310	broad.mit.edu	37	6	16327897	16327897	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr6:16327897C>A	uc003nbt.3	-	7	1616	c.645G>T	c.(643-645)caG>caT	p.Q215H	ATXN1_uc010jpi.3_Missense_Mutation_p.Q215H|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	215	Poly-Gln.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association	p.Q215H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgct	0.667000														14			5		1.23904e-05	3.84821e-05	0.000602214	1	0
RRM2B	50484	broad.mit.edu	37	8	103225069	103225069	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr8:103225069T>C	uc022azl.1	-	7	1063	c.1054A>G	c.(1054-1056)Att>Gtt	p.I352V	RRM2B_uc003ykn.3_Missense_Mutation_p.I280V|RRM2B_uc010mbv.2_Missense_Mutation_p.I228V|RRM2B_uc003yko.3_Non-coding_Transcript|RRM2B_uc010mbw.1_Missense_Mutation_p.I68V|RRM2B_uc010mbx.1_Non-coding_Transcript|RRM2B_uc010mby.1_Intron	NM_001172477	NP_001165948	Q7LG56	RIR2B_HUMAN	Homo sapiens ribonucleotide reductase M2 B (TP53 inducible) (RRM2B), transcript variant 2, mRNA.	280					DNA repair|deoxyribonucleoside diphosphate metabolic process|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			TTCATCAAAATGCAATTCATT	0.323000								Modulation of nucleotide pools						21			7		0	0	0.00198382	0	0
TBC1D4	9882	broad.mit.edu	37	13	75873646	75873646	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FS-A1ZF-06A-12D-A197-08	TCGA-FS-A1ZF-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfcf9643-5e4c-4f7f-a446-3de5fd09f730	a6d0e6e3-31eb-4efc-8f84-08c0eca68ae4	g.chr13:75873646delA	uc001vjl.1	-	16	3323	c.2976delT	c.(2974-2976)tttfs	p.F992fs	TBC1D4_uc010tht.1_Frame_Shift_Del_p.F202fs|TBC1D4_uc010thu.1_Frame_Shift_Del_p.F149fs|TBC1D4_uc010aer.2_Frame_Shift_Del_p.F984fs|TBC1D4_uc010aes.2_Frame_Shift_Del_p.F929fs	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	992	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TCAGGAGGTTAAACAGTGACA	0.463													---	39	---	---	36	---