Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SAGE1	55511	broad.mit.edu	37	X	134987465	134987465	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:134987465G>A	ENST00000535938.1	+	5	535	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	SAGE1_ENST00000370709.3_Missense_Mutation_p.R123Q|SAGE1_ENST00000324447.3_Missense_Mutation_p.R123Q|SAGE1_ENST00000537770.1_Missense_Mutation_p.R123Q	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	123										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GGCCAATCTCGAACTGACAAA	0.468000													8	55					0	0	0.003080	0	0
GABRB2	2561	broad.mit.edu	37	5	160758016	160758016	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:160758016G>A	ENST00000274547.2	-	9	1168	c.951C>T	c.(949-951)ttC>ttT	p.F317F	GABRB2_ENST00000517547.1_Silent_p.F157F|GABRB2_ENST00000353437.6_Silent_p.F317F|GABRB2_ENST00000517901.1_Silent_p.F254F|GABRB2_ENST00000393959.1_Silent_p.F317F|GABRB2_ENST00000520240.1_Silent_p.F317F	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	317					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAAGGGCCATGAAAACGAAGA	0.507000													9	89					0	0	0.008291	0	0
PCNX	22990	broad.mit.edu	37	14	71575607	71575607	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr14:71575607C>T	ENST00000304743.2	+	34	7034	c.6588C>T	c.(6586-6588)tcC>tcT	p.S2196S	PCNX_ENST00000439984.3_Silent_p.S2085S|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000238570.5_Silent_p.S2124S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2196	Ser-rich.					integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CCAGCAGCTCCAGCCAAAGCA	0.592000													13	38					0	0	0.016723	0	0
ORM1	5004	broad.mit.edu	37	9	117086343	117086343	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr9:117086343G>A	ENST00000259396.8	+	3	381	c.303G>A	c.(301-303)cgG>cgA	p.R101R	ORM1_ENST00000477456.1_3'UTR|ORM1_ENST00000538816.1_3'UTR	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	101					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	ATGTCCAGCGGGAAAATGGGA	0.537000													10	54					0	0	0.006214	0	0
WDR13	64743	broad.mit.edu	37	X	48463396	48463396	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:48463396C>T	ENST00000218056.5	+	9	1939	c.1434C>T	c.(1432-1434)atC>atT	p.I478I		NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	478						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						GCATGGTCATCGTCTGGAGGC	0.587000													4	21					0	0	0.014758	0	0
GNA14	9630	broad.mit.edu	37	9	80144101	80144101	+	Missense_Mutation	SNP	C	C	T	rs148544176		TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr9:80144101C>T	ENST00000341700.6	-	2	706	c.193G>A	c.(193-195)Gac>Aac	p.D65N		NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	65					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						CTGTCTTCGTCGCTGTAACCA	0.448000													25	206					0	0	0.007291	0	0
CHL1	10752	broad.mit.edu	37	3	431047	431047	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:431047G>A	ENST00000256509.2	+	20	3002	c.2360G>A	c.(2359-2361)cGg>cAg	p.R787Q	CHL1_ENST00000397491.2_Missense_Mutation_p.R771Q	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	771	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CACACATTGCGGGTGATGACG	0.527000													21	45					0	0	0.027356	0	0
CUX1	1523	broad.mit.edu	37	7	101847737	101847737	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:101847737A>T	ENST00000360264.3	+	19	3027	c.3007A>T	c.(3007-3009)Acg>Tcg	p.T1003S	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.T890S|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.T936S|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.T992S|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.T834S|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.T970S	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	992					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAGCAAGCTGACGCAGAAAGG	0.647000													22	79					0	0	0.014323	0	0
ZNF229	7772	broad.mit.edu	37	19	44932791	44932791	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:44932791C>T	ENST00000291187.4	-	6	2469	c.2147G>A	c.(2146-2148)aGa>aAa	p.R716K	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.R722K|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	722					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGAGCCATATCTGAAACCCTT	0.498000													12	41					0	0	0.010729	0	0
OR5H6	79295	broad.mit.edu	37	3	97983179	97983179	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:97983179G>A	ENST00000383696.2	+	1	92	c.51G>A	c.(49-51)atG>atA	p.M17I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTGAGGAGATGGAAGAGGAAA	0.388000													11	74					0	0	0.008291	0	0
HDAC4	9759	broad.mit.edu	37	2	239976470	239976470	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:239976470G>A	ENST00000345617.3	-	25	3839	c.3048C>T	c.(3046-3048)tcC>tcT	p.S1016S	HDAC4_ENST00000543185.1_Silent_p.S600S	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1016	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CTTTCTCCATGGAACGGACAG	0.512000													13	70					0	0	0.004990	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767066	77767066	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:77767066C>T	ENST00000521891.2	+	10	8357	c.7909C>T	c.(7909-7911)Cat>Tat	p.H2637Y	ZFHX4_ENST00000050961.6_Missense_Mutation_p.H2592Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H2611Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H2592Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2592						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATGCTTGATCATATTGCCCG	0.512000										HNSCC(33;0.089)			7	30					0	0	0.001984	0	0
NEB	4703	broad.mit.edu	37	2	152512945	152512945	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:152512945C>T	ENST00000397345.3	-	49	6419	c.6217G>A	c.(6217-6219)Ggg>Agg	p.G2073R	NEB_ENST00000409198.1_Missense_Mutation_p.G2073R|NEB_ENST00000604864.1_Missense_Mutation_p.G2073R|NEB_ENST00000603639.1_Missense_Mutation_p.G2073R|NEB_ENST00000427231.2_Missense_Mutation_p.G2073R|NEB_ENST00000172853.10_Missense_Mutation_p.G2073R	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2073					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACCATTTTCCCCTTCCCTTTT	0.368000													11	73					0	0	0.013537	0	0
SORCS3	22986	broad.mit.edu	37	10	106937899	106937899	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:106937899G>A	ENST00000369701.3	+	14	2204	c.1977G>A	c.(1975-1977)ctG>ctA	p.L659L	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	659						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACGGGGCTCTGGTGGAGGCAG	0.483000													12	31					0	0	0.016723	0	0
USH2A	7399	broad.mit.edu	37	1	216465538	216465538	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:216465538C>T	ENST00000366943.2	-	10	2205	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N	USH2A_ENST00000307340.3_Missense_Mutation_p.D607N|USH2A_ENST00000366942.3_Missense_Mutation_p.D607N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	607	Laminin EGF-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGCTCACAATCATCACAAACT	0.403000										HNSCC(13;0.011)			9	42					0	0	0.006214	0	0
DDX20	11218	broad.mit.edu	37	1	112309444	112309444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:112309444C>T	ENST00000475700.1	+	3	3580	c.1222C>T	c.(1222-1224)Cag>Tag	p.Q408*	DDX20_ENST00000369702.4_Nonsense_Mutation_p.Q800*			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	800	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGAATGCTCAGAGACATCC	0.393000													12	43					0	0	0.016723	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110412386	110412386	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:110412386C>T	ENST00000378402.5	+	13	1198	c.1094C>T	c.(1093-1095)aCg>aTg	p.T365M		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	365					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATGAAAAAACGCCTGGGTAC	0.433000										HNSCC(38;0.096)			25	148					0	0	0.018920	0	0
WFDC9	259240	broad.mit.edu	37	20	44238797	44238797	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr20:44238797G>A	ENST00000326000.1	-	3	241	c.24C>T	c.(22-24)ctC>ctT	p.L8L		NM_147198.3	NP_671731.1	Q8NEX5	WFDC9_HUMAN	WAP four-disulfide core domain 9	8						extracellular region				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				TGAACATGACGAGTAGAAGAA	0.493000													5	35					0	0	0.014758	0	0
ACSL6	23305	broad.mit.edu	37	5	131303644	131303644	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:131303644C>T	ENST00000379264.2	-	16	1693	c.1585G>A	c.(1585-1587)Gga>Aga	p.G529R	ACSL6_ENST00000379244.1_Missense_Mutation_p.G504R|ACSL6_ENST00000379246.1_Missense_Mutation_p.G515R|ACSL6_ENST00000296869.4_Missense_Mutation_p.G529R|ACSL6_ENST00000431707.1_Missense_Mutation_p.G484R|ACSL6_ENST00000379272.2_Missense_Mutation_p.G519R|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000543479.1_Missense_Mutation_p.G504R|ACSL6_ENST00000544770.1_Missense_Mutation_p.G413R|ACSL6_ENST00000379240.1_Missense_Mutation_p.G504R|ACSL6_ENST00000379249.3_Missense_Mutation_p.G504R|ACSL6_ENST00000379255.1_Missense_Mutation_p.G429R|ACSL6_ENST00000357096.1_Missense_Mutation_p.G429R	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	504					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTCCCTCTCCTTTGCAGGCC	0.488000													7	110					0	0	0.003080	0	0
TAS1R1	80835	broad.mit.edu	37	1	6635361	6635361	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:6635361A>G	ENST00000333172.6	+	3	1362	c.1169A>G	c.(1168-1170)tAc>tGc	p.Y390C	TAS1R1_ENST00000328191.4_Missense_Mutation_p.Y390C|TAS1R1_ENST00000351136.3_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	390					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TACAACGCATACCGGGCTGTG	0.587000													12	42					0	0	0.013537	0	0
FAM179A	165186	broad.mit.edu	37	2	29256361	29256361	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:29256361C>T	ENST00000379558.4	+	16	2508	c.2157C>T	c.(2155-2157)ccC>ccT	p.P719P	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Silent_p.P664P	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	719							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATGAACTTCCCTCTGCCAAAG	0.517000													4	13					0	0	0.009096	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20131078	20131078	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr22:20131078C>T	ENST00000334554.7	+	10	2066	c.1925C>T	c.(1924-1926)tCg>tTg	p.S642L	ZDHHC8_ENST00000320602.7_Missense_Mutation_p.S550L|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.S642L	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	642						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCGCGGACGTCGTCCTCCTCC	0.721000													4	5					0	0	0.009096	0	0
TET1	80312	broad.mit.edu	37	10	70405330	70405330	+	Silent	SNP	A	A	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:70405330A>T	ENST00000373644.4	+	4	3053	c.2844A>T	c.(2842-2844)ggA>ggT	p.G948G		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	948					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ACTTACAGGGAGAGCCACCAA	0.428000													9	30					0	0	0.006214	0	0
FAM83B	222584	broad.mit.edu	37	6	54805208	54805208	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:54805208G>A	ENST00000306858.7	+	5	1555	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	480										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGCAACAACGAATGCCAACC	0.413000													16	44					0	0	0.010504	0	0
ZNF831	128611	broad.mit.edu	37	20	57829475	57829475	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr20:57829475G>A	ENST00000371030.2	+	5	4711	c.4711G>A	c.(4711-4713)Gct>Act	p.A1571T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1571						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)					TGAAATACCAGCTTCAGGACC	0.483000													10	56					0	0	0.008291	0	0
GRIA1	2890	broad.mit.edu	37	5	153190641	153190641	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:153190641C>T	ENST00000285900.5	+	16	2920	c.2577C>T	c.(2575-2577)ctC>ctT	p.L859L	GRIA1_ENST00000340592.5_Silent_p.L859L|GRIA1_ENST00000521843.2_Silent_p.L790L|GRIA1_ENST00000518142.1_Silent_p.L779L|GRIA1_ENST00000518783.1_Silent_p.L869L|GRIA1_ENST00000448073.4_Silent_p.L869L	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	859					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CATCGACCCTCCCCCGCAACA	0.587000													8	53					0	0	0.006214	0	0
IMPG1	3617	broad.mit.edu	37	6	76728558	76728558	+	Silent	SNP	G	G	A	rs142510377	by1000genomes	TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:76728558G>A	ENST00000369950.3	-	7	873	c.684C>T	c.(682-684)ttC>ttT	p.F228F	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	228					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)				CCAACACAGCGAATTCTGTTT	0.413000													13	24					0	0	0.016723	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948397	82948397	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:82948397C>T	ENST00000274341.4	-	3	1197	c.347G>A	c.(346-348)gGa>gAa	p.G116E	HAPLN1_ENST00000514416.1_Missense_Mutation_p.G116E	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	116	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		ATCACTGCCTCCCTTCAGAAA	0.428000													7	80					0	0	0.003080	0	0
NBEA	26960	broad.mit.edu	37	13	36223797	36223797	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr13:36223797C>T	ENST00000540320.1	+	51	8247	c.7713C>T	c.(7711-7713)ttC>ttT	p.F2571F	NBEA_ENST00000537702.1_Silent_p.F364F|NBEA_ENST00000310336.4_Silent_p.F2571F|NBEA_ENST00000400445.3_Silent_p.F2571F|NBEA_ENST00000379922.3_Silent_p.F149F|NBEA_ENST00000379939.2_Silent_p.F2568F			Q8NFP9	NBEA_HUMAN	neurobeachin	2571						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AACAGTGTTTCCTTCCACAGA	0.418000													32	146					0	0	0.017118	0	0
RGL4	266747	broad.mit.edu	37	22	24035163	24035163	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr22:24035163G>A	ENST00000290691.5	+	3	1851	c.681G>A	c.(679-681)ctG>ctA	p.L227L	RGL4_ENST00000401461.1_Silent_p.L91L|GUSBP11_ENST00000417194.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	227	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CAGAGCAGCTGACCCTCATGG	0.612000													9	18					0	0	0.006214	0	0
KRTAP19-8	728299	broad.mit.edu	37	21	32410639	32410639	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr21:32410639C>T	ENST00000382822.2	-	1	156	c.124G>A	c.(124-126)Gga>Aga	p.G42R		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	42						intermediate filament				endometrium(2)|upper_aerodigestive_tract(1)	3						CCATAGCCTCCGTAGCCACAG	0.532000													12	76					0	0	0.020292	0	0
CD163L1	283316	broad.mit.edu	37	12	7510023	7510023	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:7510023G>A	ENST00000313599.3	-	19	4396	c.4339C>T	c.(4339-4341)Cct>Tct	p.P1447S	CD163L1_ENST00000396630.1_Missense_Mutation_p.P1415S|CD163L1_ENST00000416109.2_Missense_Mutation_p.P1457S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1447						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCAGAGGCAGGAAGAACTCCC	0.413000													7	53					0	0	0.006214	0	0
CD1A	909	broad.mit.edu	37	1	158224917	158224917	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:158224917C>T	ENST00000289429.5	+	2	635	c.102C>T	c.(100-102)tcC>tcT	p.S34S		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	34					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GGATCGCATCCTTTTACAACC	0.478000													14	98					0	0	0.020292	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			38	109					0	0	0.021022	0	0
FREM2	341640	broad.mit.edu	37	13	39343824	39343824	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr13:39343824G>A	ENST00000280481.7	+	4	5736	c.5520G>A	c.(5518-5520)cgG>cgA	p.R1840R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1840	Calx-beta 1.		R -> W (in dbSNP:rs9603422).		cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGCGAGTGCGGATCCTGAGTG	0.542000													12	40					0	0	0.013537	0	0
CHIT1	1118	broad.mit.edu	37	1	203186132	203186132	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:203186132G>A	ENST00000367229.1	-	11	1320	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L	CHIT1_ENST00000255427.3_Missense_Mutation_p.P410L|CHIT1_ENST00000535569.1_Missense_Mutation_p.P420L|CHIT1_ENST00000484834.1_Intron	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	429	Chitin-binding type-2.				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CCGAGGATTGGGATAGAGCCC	0.592000											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	104					0	0	0.028581	0	0
IGSF1	3547	broad.mit.edu	37	X	130410995	130410995	+	Silent	SNP	A	A	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:130410995A>C	ENST00000370904.1	-	20	3409	c.2499T>G	c.(2497-2499)ggT>ggG	p.G833G	IGSF1_ENST00000370910.1_Silent_p.G833G|IGSF1_ENST00000361420.3_Silent_p.G842G|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Silent_p.G847G			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	842	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCCTCCATCACCAATGCCCA	0.522000													37	237					0	0	0.023175	0	0
MTMR4	9110	broad.mit.edu	37	17	56573397	56573397	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:56573397G>A	ENST00000323456.5	-	16	2230	c.2106C>T	c.(2104-2106)taC>taT	p.Y702Y	MTMR4_ENST00000579925.1_Silent_p.Y645Y	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	702						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TAAGCAGTTTGTAACTTGGAG	0.483000													26	202					0	0	0.007291	0	0
CBL	867	broad.mit.edu	37	11	119158644	119158644	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr11:119158644C>T	ENST00000264033.4	+	12	2400	c.2024C>T	c.(2023-2025)tCt>tTt	p.S675F		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	675	Interaction with CD2AP.|Pro-rich.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.S675C(2)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GCCATTTATTCTCTGGCTGCC	0.403000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				11	35					0	0	0.016723	0	0
C7	730	broad.mit.edu	37	5	40947853	40947853	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:40947853C>T	ENST00000313164.9	+	8	1247	c.888C>T	c.(886-888)atC>atT	p.I296I		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	296	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GAAGATTAATCGACCAGTACG	0.408000													15	52					0	0	0.024245	0	0
PBXIP1	57326	broad.mit.edu	37	1	154919184	154919184	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:154919184G>A	ENST00000368463.3	-	10	1037	c.966C>T	c.(964-966)gcC>gcT	p.A322A	PBXIP1_ENST00000542459.1_Silent_p.A167A|PBXIP1_ENST00000368465.1_Silent_p.A293A|PBXIP1_ENST00000539880.1_Silent_p.A149A	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	322					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCGCTGGAAGGCTTCGCCCT	0.667000													5	23					0	0	0.014758	0	0
GSDMC	56169	broad.mit.edu	37	8	130765061	130765061	+	Missense_Mutation	SNP	C	C	T	rs142034966		TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:130765061C>T	ENST00000276708.4	-	7	1608	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	243						mitochondrion		p.E243K(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						tcggaaatttcgtactcttgg	0.488000													7	71					0	0	0.001984	0	0
GSPT2	23708	broad.mit.edu	37	X	51488447	51488447	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:51488447C>T	ENST00000340438.4	+	1	1967	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	575					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GACCCCGCTTCGTGAAACAAG	0.413000													10	44					0	0	0.008291	0	0
USP17L2	377630	broad.mit.edu	37	8	11995072	11995072	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:11995072C>T	ENST00000333796.3	-	1	1514	c.1198G>A	c.(1198-1200)Gac>Aac	p.D400N	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	400					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCTCGCCTGTCTGTGTCTTCA	0.567000													3	13					0	0	0.004672	0	0
ANKRD17	26057	broad.mit.edu	37	4	73942768	73942768	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:73942768G>A	ENST00000358602.4	-	33	7757	c.7641C>T	c.(7639-7641)atC>atT	p.I2547I	ANKRD17_ENST00000509867.2_Silent_p.I2434I|ANKRD17_ENST00000330838.6_Silent_p.I2296I	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2547					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CACCATCAGGGATAGGTGCTA	0.428000													17	34					0	0	0.028581	0	0
JARID2	3720	broad.mit.edu	37	6	15513580	15513580	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:15513580C>T	ENST00000341776.2	+	16	3621	c.3377C>T	c.(3376-3378)cCt>cTt	p.P1126L	JARID2_ENST00000397311.3_Missense_Mutation_p.P954L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1126					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AAGAAAAAGCCTCGAAAGTGG	0.657000													12	33					0	0	0.016723	0	0
ZNF175	7728	broad.mit.edu	37	19	52090840	52090840	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:52090840A>T	ENST00000262259.2	+	5	1614	c.1256A>T	c.(1255-1257)tAt>tTt	p.Y419F	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	419					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GAGAGACAGTATGCATGCAGT	0.438000													7	33					0	0	0.001984	0	0
SLC9C2	284525	broad.mit.edu	37	1	173567119	173567119	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:173567119G>A	ENST00000367714.3	-	4	703	c.281C>T	c.(280-282)tCt>tTt	p.S94F	SLC9C2_ENST00000536496.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	94					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TGAAAAGTAAGAATAAAGTGA	0.308000													6	51					0	0	0.021553	0	0
MCCC2	64087	broad.mit.edu	37	5	70892176	70892176	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:70892176A>G	ENST00000340941.6	+	3	395	c.266A>G	c.(265-267)aAt>aGt	p.N89S	MCCC2_ENST00000509358.2_Missense_Mutation_p.N89S|MCCC2_ENST00000323375.8_Missense_Mutation_p.N89S	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	89	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AGAATTGACAATCTCATAGAC	0.388000													21	81					0	0	0.012319	0	0
SALL4	57167	broad.mit.edu	37	20	50407813	50407813	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr20:50407813G>A	ENST00000217086.4	-	2	1320	c.1209C>T	c.(1207-1209)tcC>tcT	p.S403S	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	403					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTCCAGTGTGGGAGCGGAGGT	0.542000													9	38					0	0	0.006214	0	0
ESX1	80712	broad.mit.edu	37	X	103495484	103495484	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:103495484C>T	ENST00000372588.4	-	4	729	c.646G>A	c.(646-648)Gac>Aac	p.D216N		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	216					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						AAGAACATGTCCAAAGGGTGG	0.507000													16	114					0	0	0.028581	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23833376	23833376	+	Splice_Site	SNP	T	T	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:23833376T>A	ENST00000264867.2	-	3	354		c.e3-2		PPARGC1A_ENST00000509702.1_Splice_Site	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha						androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				ATCTATCTTCTGCAGAAAGAG	0.448000													14	103					0	0	0.016723	0	0
TTC16	158248	broad.mit.edu	37	9	130492962	130492962	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr9:130492962G>A	ENST00000373289.3	+	14	1980	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	634							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TATCTGCCAGGAATACAGGAG	0.587000													4	28					0	0	0.009096	0	0
PLA2R1	22925	broad.mit.edu	37	2	160798661	160798661	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:160798661G>A	ENST00000283243.7	-	29	4360	c.4154C>T	c.(4153-4155)aCt>aTt	p.T1385I	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1385					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CGCCTCTGCAGTGTGAATATC	0.318000													7	35					0	0	0.006214	0	0
CD163L1	283316	broad.mit.edu	37	12	7550931	7550931	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:7550931C>T	ENST00000313599.3	-	7	1715	c.1658G>A	c.(1657-1659)tGg>tAg	p.W553*	CD163L1_ENST00000396630.1_Nonsense_Mutation_p.W553*|CD163L1_ENST00000416109.2_Nonsense_Mutation_p.W563*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	553	SRCR 5.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTCACAGTCCCAGATATTTGA	0.403000													9	64					0	0	0.006214	0	0
TBC1D19	55296	broad.mit.edu	37	4	26638852	26638852	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:26638852T>A	ENST00000264866.4	+	5	592	c.314T>A	c.(313-315)aTt>aAt	p.I105N	TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Missense_Mutation_p.I40N	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	105						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				GAAAAAAGAATTTTGAAGAGT	0.264000													11	32					0	0	0.020292	0	0
TP53	7157	broad.mit.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:7578555C>T	ENST00000420246.2	-	5	508		c.e5-1		TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGGGGAGTACTGTAGGAAGA	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	11					0	0	0.021553	0	0
LOXL4	84171	broad.mit.edu	37	10	100017472	100017472	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:100017472C>T	ENST00000260702.3	-	8	1345	c.1195G>A	c.(1195-1197)Ggt>Agt	p.G399S		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	399	SRCR 3.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		TGTTGGCAACCATTCTGGGAC	0.587000													22	56					0	0	0.014323	0	0
MYLK	4638	broad.mit.edu	37	3	123452564	123452564	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:123452564C>T	ENST00000360772.3	-	11	1657	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	MYLK_ENST00000475616.1_Missense_Mutation_p.E427K|MYLK_ENST00000346322.5_Missense_Mutation_p.E427K|MYLK_ENST00000360304.3_Missense_Mutation_p.E427K|MYLK_ENST00000359169.1_Missense_Mutation_p.E427K			Q15746	MYLK_HUMAN	myosin light chain kinase	427	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTTTGATTTTCCTTGACCTCC	0.507000													21	92					0	0	0.021523	0	0
SEC24C	9632	broad.mit.edu	37	10	75519806	75519806	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:75519806G>A	ENST00000339365.2	+	6	674	c.512G>A	c.(511-513)gGa>gAa	p.G171E	SEC24C_ENST00000411652.2_Missense_Mutation_p.G29E|SEC24C_ENST00000345254.4_Missense_Mutation_p.G171E|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Missense_Mutation_p.G29E	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	171					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TCAGCCTCAGGAAGTTTCCCT	0.547000													28	79					0	0	0.008361	0	0
FAM83D	81610	broad.mit.edu	37	20	37581057	37581057	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr20:37581057G>A	ENST00000217429.4	+	4	1783	c.1742G>A	c.(1741-1743)aGg>aAg	p.R581K		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	551					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				ATGCTGTCAAGGAGAACACTC	0.448000													19	71					0	0	0.008871	0	0
CYP2C18	1562	broad.mit.edu	37	10	96484139	96484139	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:96484139G>A	ENST00000285979.6	+	7	1197	c.998G>A	c.(997-999)aGa>aAa	p.R333K	CYP2C18_ENST00000339022.5_Missense_Mutation_p.R274K|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		GTAGTTGGCAGAAACCGGAGC	0.473000													18	68					0	0	0.014323	0	0
KIF15	56992	broad.mit.edu	37	3	44852400	44852400	+	Silent	SNP	T	T	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:44852400T>C	ENST00000326047.4	+	17	2183	c.2034T>C	c.(2032-2034)ccT>ccC	p.P678P	KIF15_ENST00000425755.1_Silent_p.P313P	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	678					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AATTAAGCCCTGAAATGGGAA	0.373000													3	41					0	0	0.004672	0	0
SYNJ2	8871	broad.mit.edu	37	6	158509711	158509711	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:158509711G>A	ENST00000355585.4	+	24	3438	c.3363G>A	c.(3361-3363)aaG>aaA	p.K1121K	SYNJ2_ENST00000367112.1_Silent_p.K206K|SYNJ2_ENST00000367121.3_Silent_p.K1121K|SYNJ2_ENST00000367122.2_Silent_p.K1076K	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1121							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TGGTGAAAAAGTCGGCTTCAG	0.527000													29	67					0	0	0.007291	0	0
PLCB1	23236	broad.mit.edu	37	20	8770195	8770195	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr20:8770195C>T	ENST00000378641.3	+	30	3784	c.3309C>T	c.(3307-3309)atC>atT	p.I1103I	PLCB1_ENST00000338037.6_Silent_p.I1103I|PLCB1_ENST00000378637.2_Silent_p.I1103I	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1103					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GGTCATATATCCAGGAAGTGG	0.423000													16	79					0	0	0.007413	0	0
TCP10L2	401285	broad.mit.edu	37	6	167585680	167585680	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:167585680C>T	ENST00000366832.2	+	2	179	c.48C>T	c.(46-48)caC>caT	p.H16H		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	16										endometrium(1)|kidney(2)|lung(3)	6						AGGGCACCCACCCAGAGGACC	0.667000													5	9					0	0	0.014758	0	0
TTC18	118491	broad.mit.edu	37	10	75090940	75090940	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:75090940C>T	ENST00000310715.3	-	9	1102	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	TTC18_ENST00000401621.2_Missense_Mutation_p.E328K|TTC18_ENST00000394865.1_Missense_Mutation_p.E328K|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000340329.3_Intron	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	328							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TTTACCTTTTCAGTTTTGCCA	0.403000													5	18					0	0	0.021553	0	0
MRPS15	64960	broad.mit.edu	37	1	36921790	36921790	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:36921790G>A	ENST00000373116.5	-	7	795	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	MRPS15_ENST00000488606.1_5'UTR	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	212					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACTCGTACCCGAATGCACAGA	0.547000													6	39					0	0	0.003080	0	0
LPPR2	64748	broad.mit.edu	37	19	11474874	11474874	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:11474874G>A	ENST00000251473.5	+	9	1361	c.985G>A	c.(985-987)Ggc>Agc	p.G329S	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.R309Q	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					ACACCGGCACGGCTCACCCCA	0.647000													13	95					0	0	0.024245	0	0
INTS3	65123	broad.mit.edu	37	1	153741373	153741373	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:153741373C>T	ENST00000456435.1	+	22	2817	c.1631C>T	c.(1630-1632)cCa>cTa	p.P544L	INTS3_ENST00000435409.2_Missense_Mutation_p.P750L|INTS3_ENST00000512605.1_Missense_Mutation_p.P544L|INTS3_ENST00000318967.2_Missense_Mutation_p.P750L|INTS3_ENST00000476843.1_3'UTR			Q68E01	INT3_HUMAN	integrator complex subunit 3	751					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATTTAGTTTCCAGATGAAACC	0.483000													4	28					0	0	0.009096	0	0
SALL4	57167	broad.mit.edu	37	20	50407356	50407356	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr20:50407356C>T	ENST00000217086.4	-	2	1777	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	556					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCAATGTTCTCCACCAACTGC	0.542000													21	102					0	0	0.014323	0	0
IRS2	8660	broad.mit.edu	37	13	110436510	110436510	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr13:110436510C>T	ENST00000375856.3	-	1	2405	c.1891G>A	c.(1891-1893)Gac>Aac	p.D631N		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	631					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			TCTCCGTAGTCCTCTGGGTAG	0.701000													3	18					0	0	0.009096	0	0
TLL1	7092	broad.mit.edu	37	4	166986935	166986935	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:166986935C>T	ENST00000061240.2	+	16	2755	c.2108C>T	c.(2107-2109)tCc>tTc	p.S703F	TLL1_ENST00000507499.1_Missense_Mutation_p.S726F	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	703	CUB 3.				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)		GTGATCACATCCCAGTTCAAC	0.398000													6	67					0	0	0.021553	0	0
DNAH5	1767	broad.mit.edu	37	5	13700980	13700980	+	Splice_Site	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:13700980C>T	ENST00000265104.4	-	78	13596	c.13491_splice	c.e78-1	p.E4498_splice		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4498					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E4498K(1)		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)					CGAGTTATTTCCTATTCAGGG	0.453000									Kartagener syndrome				8	51					0	0	0.003080	0	0
LONP1	9361	broad.mit.edu	37	19	5705925	5705925	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:5705925G>A	ENST00000360614.3	-	8	1382	c.1225C>T	c.(1225-1227)Ctg>Ttg	p.L409L	LONP1_ENST00000540670.2_Silent_p.L213L|LONP1_ENST00000585374.1_Silent_p.L295L|LONP1_ENST00000590729.1_Silent_p.L279L|LONP1_ENST00000593119.1_Silent_p.L345L	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	409					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCTTCTCCAGGCCCAGCTCC	0.577000													14	77					0	0	0.004990	0	0
DCHS2	54798	broad.mit.edu	37	4	155241981	155241981	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:155241981G>A	ENST00000357232.3	-	14	3204	c.3205C>T	c.(3205-3207)Ccc>Tcc	p.P1069S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1069	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTTCCTATGGGAACATTCTCC	0.438000													21	74					0	0	0.008871	0	0
TTN	7273	broad.mit.edu	37	2	179441825	179441825	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:179441825C>T	ENST00000589042.1	-	324	69461	c.69237G>A	c.(69235-69237)aaG>aaA	p.K23079K	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.K14014K|TTN_ENST00000342175.6_Silent_p.K14206K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.K14139K|TTN_ENST00000342992.6_Silent_p.K20511K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.K21438K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21438	Ig-like 118.		L -> F (in a metastatic melanoma sample; somatic mutation).				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)			TGGTTTCTCTCTTTTCAAGTA	0.423000													14	61					0	0	0.016723	0	0
PSG8	440533	broad.mit.edu	37	19	43268068	43268068	+	Splice_Site	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:43268068G>A	ENST00000404209.4	-	2	526	c.430_splice	c.e2+1	p.L144_splice	PSG8_ENST00000401467.2_Splice_Site_p.P144_splice|PSG8_ENST00000306511.4_Splice_Site_p.L144_splice|PSG8_ENST00000406636.3_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	144	Ig-like V-type.					extracellular region		p.L144L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AATCACTCACGATATAAGGTG	0.498000													29	169					0	0	0.017118	0	0
FAM86DP	692099	broad.mit.edu	37	3	75471102	75471102	+	RNA	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:75471102G>A	ENST00000459803.1	-	0	2039					NR_024241.1																						CAGCCAGGTGGTGACCTGGGA	0.557000													3	10					0	0	0.001984	0	0
DNER	92737	broad.mit.edu	37	2	230231745	230231745	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:230231745G>A	ENST00000341772.4	-	12	2080	c.1946C>T	c.(1945-1947)gCc>gTc	p.A649V		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	649					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AAGGATGAAGGCCACGCAGAG	0.557000													8	19					0	0	0.003080	0	0
RNF157	114804	broad.mit.edu	37	17	74163764	74163764	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:74163764C>T	ENST00000269391.6	-	4	543	c.411G>A	c.(409-411)caG>caA	p.Q137Q	RNF157_ENST00000319945.6_Silent_p.Q137Q	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	137							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CTTCCGTGGCCTGGTAATAGA	0.498000													7	73					0	0	0.001984	0	0
OR5M11	219487	broad.mit.edu	37	11	56309817	56309817	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr11:56309817C>T	ENST00000528616.2	-	1	940	c.917G>A	c.(916-918)tGa>tAa	p.*306*		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GACAATATTTCATCTCAGGAC	0.383000													3	26					0	0	0.009096	0	0
ATP13A3	79572	broad.mit.edu	37	3	194162180	194162180	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:194162180G>A	ENST00000439040.1	-	16	2361	c.1570C>T	c.(1570-1572)Cca>Tca	p.P524S	ATP13A3_ENST00000256031.4_Missense_Mutation_p.P524S			Q9H7F0	AT133_HUMAN	ATPase type 13A3	524					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TTTTCTTCTGGTGAAAGAAAT	0.333000													6	28					0	0	0.001984	0	0
SLC28A3	64078	broad.mit.edu	37	9	86920249	86920249	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr9:86920249C>T	ENST00000376238.4	-	4	303	c.254G>A	c.(253-255)aGg>aAg	p.R85K	SLC28A3_ENST00000495823.1_5'UTR|SLC28A3_ENST00000537648.1_Missense_Mutation_p.R16K	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	85					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GTCATACCTCCTTTCCAAACA	0.383000													5	33					0	0	0.001984	0	0
GLYATL2	219970	broad.mit.edu	37	11	58605793	58605793	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr11:58605793C>T	ENST00000287275.1	-	3	517	c.127G>A	c.(127-129)Gag>Aag	p.E43K	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.E43K	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	43						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	ACCAGCACCTCCATGTTGAAA	0.443000													8	38					0	0	0.004482	0	0
SCP2	6342	broad.mit.edu	37	1	53420478	53420478	+	Splice_Site	SNP	T	T	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:53420478T>A	ENST00000371514.3	+	5	564		c.e5+2		SCP2_ENST00000407246.2_Splice_Site|SCP2_ENST00000371509.4_Splice_Site|SCP2_ENST00000371513.5_Splice_Site|SCP2_ENST00000528311.1_Splice_Site	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2						bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						GGAATAAAAGTGAGTGTTATT	0.338000													10	60					0	0	0.010729	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183905	11183905	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:11183905G>A	ENST00000390675.2	-	1	101	c.30C>T	c.(28-30)tcC>tcT	p.S10S	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	10					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						CTACCACACTGGAAAAAATGA	0.383000													7	37					0	0	0.004482	0	0
NKAIN3	286183	broad.mit.edu	37	8	63659649	63659649	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:63659649C>T	ENST00000523211.1	+	4	564	c.432C>T	c.(430-432)taC>taT	p.Y144Y	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Silent_p.Y144Y	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	144						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				ACTTCCAGTACCTGGAGGTCA	0.478000													5	33					0	0	0.021553	0	0
ADRBK2	157	broad.mit.edu	37	22	26100117	26100117	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr22:26100117C>T	ENST00000324198.5	+	15	1461	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	423	Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	AACTGAAGTCCCTTTTGGAGG	0.498000													9	36					0	0	0.010729	0	0
CNNM2	54805	broad.mit.edu	37	10	104809545	104809545	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:104809545C>T	ENST00000369878.3	+	2	1827	c.1703C>T	c.(1702-1704)aCc>aTc	p.T568I	CNNM2_ENST00000433628.2_Missense_Mutation_p.T568I|CNNM2_ENST00000457502.2_Missense_Mutation_p.T326I	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	568	CBS 2.		T -> I (in HOMG6; reduced activity; electrophysiological analysis shows that magnesium-sensitive sodium currents are significantly diminished and are blocked by increased extracellular magnesium concentrations).		ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGAATCGTCACCTTAGAAGAT	0.388000													6	61					0	0	0.021553	0	0
PDE4C	5143	broad.mit.edu	37	19	18333100	18333100	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:18333100C>T	ENST00000355502.3	-	6	1147	c.276G>A	c.(274-276)agG>agA	p.R92R	PDE4C_ENST00000262805.11_Silent_p.R60R|PDE4C_ENST00000594465.2_Silent_p.R92R|PDE4C_ENST00000594617.2_Silent_p.R92R|PDE4C_ENST00000447275.2_5'UTR			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	92					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CCAGGGCCCTCCTCCCACACG	0.632000													11	60					0	0	0.020292	0	0
MSLNL	401827	broad.mit.edu	37	16	830384	830384	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr16:830384G>A	ENST00000293892.3	-	3	616	c.617C>T	c.(616-618)cCt>cTt	p.P206L	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGTGCATGCAGGCACGCACAT	0.597000													10	51					0	0	0.006214	0	0
SH2D4B	387694	broad.mit.edu	37	10	82369223	82369223	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:82369223A>T	ENST00000339284.2	+	6	1331	c.901A>T	c.(901-903)Atc>Ttc	p.I301F	SH2D4B_ENST00000372150.3_3'UTR|SH2D4B_ENST00000470604.2_Missense_Mutation_p.I300F|SH2D4B_ENST00000313455.4_Missense_Mutation_p.I253F	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	300										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			CAGAGATGTCATCGTCCGCTG	0.592000													9	39					0	0	0.006214	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561799	145561799	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:145561799G>A	ENST00000355594.4	+	10	1574	c.1487G>A	c.(1486-1488)aGg>aAg	p.R496K		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	496										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTCAACTAAGGGAGGAGCTT	0.602000													36	124					0	0	0.025465	0	0
ZNF701	55762	broad.mit.edu	37	19	53086410	53086410	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:53086410T>A	ENST00000540331.1	+	5	1521	c.1296T>A	c.(1294-1296)gaT>gaA	p.D432E	ZNF701_ENST00000301093.2_Missense_Mutation_p.D432E|ZNF701_ENST00000391785.3_Missense_Mutation_p.D366E|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TCAGACGTGATTCACACCTGG	0.398000													7	46					0	0	0.004482	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767767	77767767	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:77767767C>T	ENST00000521891.2	+	10	9058	c.8610C>T	c.(8608-8610)agC>agT	p.S2870S	ZFHX4_ENST00000050961.6_Silent_p.S2825S|ZFHX4_ENST00000518282.1_Silent_p.S2844S|ZFHX4_ENST00000455469.2_Silent_p.S2825S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2825						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTCTCACAAGCCCATCCATCC	0.498000										HNSCC(33;0.089)			5	23					0	0	0.014758	0	0
IL1RL1	9173	broad.mit.edu	37	2	102959872	102959872	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:102959872C>T	ENST00000311734.2	+	8	1306	c.967C>T	c.(967-969)Cca>Tca	p.P323S	IL1RL1_ENST00000409584.1_Missense_Mutation_p.P309S|IL1RL1_ENST00000404917.2_Missense_Mutation_p.P206S|IL1RL1_ENST00000233954.1_Missense_Mutation_p.P323S			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	323					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TAGGAAAAATCCAAGTAAGGA	0.448000													15	94					0	0	0.006122	0	0
DNAH3	55567	broad.mit.edu	37	16	20999122	20999122	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr16:20999122C>T	ENST00000261383.3	-	46	6774	c.6775G>A	c.(6775-6777)Gtg>Atg	p.V2259M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2259	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAGTTCTCCACTGCATCTCTA	0.502000													5	55					0	0	0.021553	0	0
TENM1	10178	broad.mit.edu	37	X	123699396	123699396	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:123699396C>T	ENST00000422452.2	-	12	2155	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	TENM1_ENST00000371130.3_Missense_Mutation_p.E698K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTACCACACTCCATGGTACAC	0.408000													7	29					0	0	0.006214	0	0
KMT2C	58508	broad.mit.edu	37	7	151945102	151945102	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:151945102G>A	ENST00000355193.2	-	14	2635	c.2417C>T	c.(2416-2418)tCc>tTc	p.S806F	KMT2C_ENST00000262189.6_Missense_Mutation_p.S806F					lysine (K)-specific methyltransferase 2C																		TCCAGCAGAGGAACTAAGAGC	0.438000													18	578					0	0	0.014323	0	0
LGSN	51557	broad.mit.edu	37	6	63990239	63990239	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:63990239T>G	ENST00000370657.4	-	4	1250	c.1217A>C	c.(1216-1218)gAa>gCa	p.E406A	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	406					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TAGTTTATTTTCTATCCGGGT	0.448000													22	70					0	0	0.012319	0	0
SULF1	23213	broad.mit.edu	37	8	70539458	70539458	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:70539458C>T	ENST00000260128.4	+	16	2581	c.1864C>T	c.(1864-1866)Ccc>Tcc	p.P622S	SULF1_ENST00000458141.2_Missense_Mutation_p.P622S|SULF1_ENST00000402687.4_Missense_Mutation_p.P622S|SULF1_ENST00000419716.3_Missense_Mutation_p.P622S|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	622					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTTTATTCTTCCCAATGACTC	0.378000													4	17					0	0	0.014758	0	0
RASAL1	8437	broad.mit.edu	37	12	113553569	113553569	+	Silent	SNP	A	A	G			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:113553569A>G	ENST00000546530.1	-	11	1159	c.874T>C	c.(874-876)Ttg>Ctg	p.L292L	RASAL1_ENST00000548055.1_Silent_p.L292L|RASAL1_ENST00000261729.5_Silent_p.L292L|RASAL1_ENST00000446861.3_Silent_p.L292L|RASAL1_ENST00000418411.2_5'UTR	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	292					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCTTCCAGCAAAGCCAAGGGG	0.627000													12	35					0	0	0.028581	0	0
SCAMP3	10067	broad.mit.edu	37	1	155228653	155228653	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:155228653G>A	ENST00000355379.3	-	4	681	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000302631.3_Nonsense_Mutation_p.Q161*	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	161					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACAGTCTTCTGAAATTCTTGG	0.493000													24	152					0	0	0.018920	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458690	120458690	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:120458690G>A	ENST00000256646.2	-	34	6874	c.6655C>T	c.(6655-6657)Ccc>Tcc	p.P2219S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2219					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCACTGAGGGAAGCACAGTG	0.572000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				113	421					0	0	0.014410	0	0
NPY4R	5540	broad.mit.edu	37	10	47087209	47087209	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:47087209C>T	ENST00000374312.1	+	3	845	c.426C>T	c.(424-426)ctC>ctT	p.L142L	NPY4R_ENST00000395716.1_Silent_p.L142L	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4									p.L142L(2)									GGCATCAGCTCATCATCAACC	0.592000													17	128					0	0	0.007413	0	0
SORBS2	8470	broad.mit.edu	37	4	186545539	186545539	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:186545539G>A	ENST00000431808.1	-	14	1595	c.1032C>T	c.(1030-1032)gtC>gtT	p.V344V	SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_Silent_p.V444V|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000284776.7_Silent_p.V344V|SORBS2_ENST00000418609.1_Silent_p.V248V|SORBS2_ENST00000393528.3_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	344						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGTCCCGAGGGACATCCAAGT	0.507000													16	52					0	0	0.024245	0	0
FAM129A	116496	broad.mit.edu	37	1	184777223	184777223	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:184777223C>T	ENST00000367511.3	-	10	1513	c.1320G>A	c.(1318-1320)caG>caA	p.Q440Q	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	440					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GCATGTAGTTCTGTGTCCTCT	0.537000													29	126					0	0	0.010818	0	0
LAMB4	22798	broad.mit.edu	37	7	107708494	107708494	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:107708494C>T	ENST00000388781.3	-	19	2496	c.2413G>A	c.(2413-2415)Gga>Aga	p.G805R	LAMB4_ENST00000388780.3_Missense_Mutation_p.G805R|LAMB4_ENST00000205386.4_Missense_Mutation_p.G805R	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	805	Laminin EGF-like 6.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCATAGCTTCCAGTTGAGCAC	0.552000													45	184					0	0	0.014410	0	0
ITPR1	3708	broad.mit.edu	37	3	4722316	4722316	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:4722316C>T	ENST00000302640.8	+	24	3352	c.3002C>T	c.(3001-3003)tCc>tTc	p.S1001F	ITPR1_ENST00000357086.4_Missense_Mutation_p.S1007F|ITPR1_ENST00000354582.6_Missense_Mutation_p.S1016F|ITPR1_ENST00000456211.2_Missense_Mutation_p.S992F|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.S1007F|ITPR1_ENST00000443694.2_Missense_Mutation_p.S1001F	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1016					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GAAAGCAATTCCCAGACTTCA	0.413000													9	37					0	0	0.006214	0	0
GPR179	440435	broad.mit.edu	37	17	36482779	36482779	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:36482779C>T	ENST00000342292.4	-	11	6693	c.6673G>A	c.(6673-6675)Gaa>Aaa	p.E2225K	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2225						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCTGTGATTTCCCATTGGCAC	0.552000													11	65					0	0	0.008291	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140794192	140794192	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:140794192G>A	ENST00000398610.2	+	1	1450	c.1450G>A	c.(1450-1452)Gac>Aac	p.D484N	PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACCCGGACAGCAAAGA	0.517000													8	111					0	0	0.004482	0	0
OSBPL7	114881	broad.mit.edu	37	17	45891179	45891179	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:45891179G>A	ENST00000007414.3	-	15	1564	c.1373C>T	c.(1372-1374)cCc>cTc	p.P458L	OSBPL7_ENST00000392507.3_Missense_Mutation_p.P458L	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	458					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						TGGCCCCATGGGTCTCCCTGG	0.682000													7	18					0	0	0.004482	0	0
ACSL6	23305	broad.mit.edu	37	5	131329887	131329887	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:131329887C>T	ENST00000379264.2	-	2	215	c.107G>A	c.(106-108)cGa>cAa	p.R36Q	ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000379244.1_Missense_Mutation_p.R11Q|ACSL6_ENST00000379246.1_Missense_Mutation_p.R22Q|ACSL6_ENST00000296869.4_Missense_Mutation_p.R36Q|ACSL6_ENST00000431707.1_Missense_Mutation_p.R11Q|ACSL6_ENST00000379272.2_Missense_Mutation_p.R11Q|ACSL6_ENST00000543479.1_Missense_Mutation_p.R11Q|ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000379240.1_Missense_Mutation_p.R11Q|ACSL6_ENST00000379249.3_Missense_Mutation_p.R11Q|ACSL6_ENST00000379255.1_Missense_Mutation_p.R11Q|ACSL6_ENST00000357096.1_Missense_Mutation_p.R11Q	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	11					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCAGGCAGTCGCAGTATCCT	0.547000													5	22					0	0	0.014758	0	0
DNAH8	1769	broad.mit.edu	37	6	38891880	38891880	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:38891880G>A	ENST00000359357.3	+	71	10507	c.10253G>A	c.(10252-10254)cGg>cAg	p.R3418Q	RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3382Q|DNAH8_ENST00000449981.2_Missense_Mutation_p.R3635Q					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTGAGAGCACGGAAAATTCCT	0.373000													14	60					0	0	0.016723	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997096	82997096	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:82997096C>T	ENST00000307792.3	-	17	2601	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	SEMA3E_ENST00000427262.1_Missense_Mutation_p.E652K	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	712					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TGCAAGAATTCCTTGTACCAT	0.458000													19	82					0	0	0.007413	0	0
TSPYL6	388951	broad.mit.edu	37	2	54483115	54483115	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:54483115C>T	ENST00000317802.7	-	1	294	c.174G>A	c.(172-174)ggG>ggA	p.G58G	ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	58					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GGGGCGCGACCCCCTCCTCTG	0.602000													10	120					0	0	0.016723	0	0
COX7A2	1347	broad.mit.edu	37	6	75953460	75953460	+	Silent	SNP	T	T	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:75953460T>C	ENST00000370081.2	-	2	397	c.87A>G	c.(85-87)gtA>gtG	p.V29V	COX7A2_ENST00000472311.2_5'UTR|COX7A2_ENST00000370089.2_Silent_p.V29V|COX7A2_ENST00000230459.4_5'UTR|COX7A2_ENST00000460985.1_5'UTR|COX7A2_ENST00000509698.1_5'UTR			P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	0						mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			kidney(2)|lung(1)	3						TCTTGGCTGTTACTGACCAGC	0.542000													16	69					0	0	0.006122	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254885	30254885	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:30254885G>A	ENST00000361644.2	+	5	1581	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	MAGEB3_ENST00000378986.1_Missense_Mutation_p.E282K	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	282	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AGCCCATGCTGAAACCAGCAA	0.493000													5	51					0	0	0.021553	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935697	151935697	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:151935697G>A	ENST00000393902.3	-	3	1037	c.470C>T	c.(469-471)tCc>tTc	p.S157F	MAGEA3_ENST00000370278.3_Missense_Mutation_p.S157F			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	157	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTGCAAGGAACTGGAAGC	0.547000													10	84					0	0	0.006214	0	0
ZNF641	121274	broad.mit.edu	37	12	48739160	48739160	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:48739160A>C	ENST00000544117.2	-	4	1124	c.416T>G	c.(415-417)aTg>aGg	p.M139R	ZNF641_ENST00000547026.1_Missense_Mutation_p.M125R|ZNF641_ENST00000301042.3_Missense_Mutation_p.M139R|ZNF641_ENST00000448928.3_Intron			Q96N77	ZN641_HUMAN	zinc finger protein 641	139	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						GTTTTCCTGCATGACATATTC	0.527000													17	51					0	0	0.006122	0	0
CRISP1	167	broad.mit.edu	37	6	49815925	49815925	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:49815925G>A	ENST00000335847.4	-	4	384	c.283C>T	c.(283-285)Cca>Tca	p.P95S	CRISP1_ENST00000329411.5_Missense_Mutation_p.P95S|CRISP1_ENST00000355791.2_Missense_Mutation_p.P95S|CRISP1_ENST00000505118.1_Missense_Mutation_p.P95S|CRISP1_ENST00000536021.1_Missense_Mutation_p.P95S|CRISP1_ENST00000507853.1_Missense_Mutation_p.P95S	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	95					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					CACTTACTTGGAAGTCTCCTC	0.373000													15	73					0	0	0.024245	0	0
CCDC181	57821	broad.mit.edu	37	1	169388387	169388387	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:169388387C>T	ENST00000545005.1	-	5	1586	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	CCDC181_ENST00000367806.3_Missense_Mutation_p.R360Q|CCDC181_ENST00000367805.3_Missense_Mutation_p.R360Q|CCDC181_ENST00000491570.1_5'UTR					coiled-coil domain containing 181									p.R360Q(1)									TTCTATTTTTCGTCGCTCTTC	0.303000													5	18					0	0	0.014758	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731426	140731426	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:140731426G>A	ENST00000523390.1	+	1	1599	c.1599G>A	c.(1597-1599)caG>caA	p.Q533Q	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGGACCAGGGCTCCCCCG	0.701000													15	55					0	0	0.020292	0	0
ARL9	132946	broad.mit.edu	37	4	57384993	57384993	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:57384993C>T	ENST00000360096.2	+	3	480	c.166C>T	c.(166-168)Cct>Tct	p.P56S		NM_206919.1	NP_996802.1	Q6T311	ARL9_HUMAN	ADP-ribosylation factor-like 9	120							GTP binding			lung(2)	2	Glioma(25;0.08)|all_neural(26;0.101)					CCCAGTACTTCCTCTGGTTGT	0.378000													8	26					0	0	0.003080	0	0
NOTCH4	4855	broad.mit.edu	37	6	32183118	32183118	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:32183118G>T	ENST00000375023.3	-	12	2044	c.1906C>A	c.(1906-1908)Ccc>Acc	p.P636T		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	636	EGF-like 16.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ATCTGCTTGGGCTGGCACAGG	0.572000													41	231					6.21074e-16	6.5789e-16	0.011902	1	0
DSG2	1829	broad.mit.edu	37	18	29102104	29102104	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr18:29102104G>A	ENST00000261590.8	+	6	791	c.582G>A	c.(580-582)tcG>tcA	p.S194S	DSG2_ENST00000585206.1_Silent_p.S194S	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	194	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.S194S(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CCCTGAATTCGAAAATTTCCT	0.368000													5	25					0	0	0.021553	0	0
ATP13A5	344905	broad.mit.edu	37	3	193081925	193081925	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:193081925C>T	ENST00000342358.4	-	2	325	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	70					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTGTCTGCTTCTTGCAAGGGG	0.527000													36	97					0	0	0.019004	0	0
MUC16	94025	broad.mit.edu	37	19	9018453	9018453	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:9018453C>T	ENST00000397910.4	-	24	37924	c.37721G>A	c.(37720-37722)aGg>aAg	p.R12574K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12576	SEA 4.				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						CTGCAGGACCCTCTCAGTGGT	0.547000													21	94					0	0	0.016522	0	0
KPNA2	3838	broad.mit.edu	37	17	66040459	66040459	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:66040459A>C	ENST00000537025.2	+	9	1807	c.1187A>C	c.(1186-1188)gAa>gCa	p.E396A	KPNA2_ENST00000330459.3_Missense_Mutation_p.E396A			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	396	NLS binding site (minor) (By similarity).				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACACAAAAGGAAGCTGTGTGG	0.378000													35	103					0	0	0.023175	0	0
NPHS1	4868	broad.mit.edu	37	19	36330278	36330278	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:36330278G>A	ENST00000378910.5	-	22	2969	c.2970C>T	c.(2968-2970)gtC>gtT	p.V990V	NPHS1_ENST00000353632.6_Silent_p.V990V	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	990	Fibronectin type-III.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGGTGGTACGACATCCACAT	0.582000													14	38					0	0	0.020292	0	0
KIAA1549	57670	broad.mit.edu	37	7	138555961	138555961	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:138555961G>A	ENST00000440172.1	-	13	4541	c.4493C>T	c.(4492-4494)cCc>cTc	p.P1498L	KIAA1549_ENST00000422774.1_Missense_Mutation_p.P1498L|KIAA1549_ENST00000242365.4_Missense_Mutation_p.P1448L	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1498						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCGCTGGACGGGAGGTGCCGG	0.557000			O	BRAF	pilocytic astrocytoma								15	43					0	0	0.004990	0	0
PNMAL2	57469	broad.mit.edu	37	19	46997520	46997520	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:46997520G>A	ENST00000599531.1	-	1	2235	c.1203C>T	c.(1201-1203)gtC>gtT	p.V401V	PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Intron	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	401										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCTTGCGCAGGACCACGGCGT	0.677000													6	23					0	0	0.021553	0	0
EPHA3	2042	broad.mit.edu	37	3	89176412	89176412	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:89176412C>T	ENST00000336596.2	+	2	367	c.142C>T	c.(142-144)Cca>Tca	p.P48S	EPHA3_ENST00000494014.1_Missense_Mutation_p.P48S|EPHA3_ENST00000452448.2_Missense_Mutation_p.P48S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	48						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GATCTCTTATCCATCACATGG	0.338000										TSP Lung(6;0.00050)			13	53					0	0	0.028581	0	0
RYR2	6262	broad.mit.edu	37	1	237919588	237919588	+	Splice_Site	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:237919588G>A	ENST00000366574.2	+	81	11463	c.11145_splice	c.e81-1	p.E3716_splice	RYR2_ENST00000542537.1_Splice_Site_p.E3700_splice|RYR2_ENST00000360064.6_Splice_Site_p.E3722_splice	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3716					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGTGTTCAGGAAAAAGAAAT	0.443000													4	34					0	0	0.014758	0	0
SLC6A11	6538	broad.mit.edu	37	3	10865066	10865066	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:10865066G>A	ENST00000254488.2	+	4	678	c.612G>A	c.(610-612)atG>atA	p.M204I	SLC6A11_ENST00000454147.1_Missense_Mutation_p.M204I	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	204					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CCCCTGTCATGGAGTTTTGGG	0.502000													16	43					0	0	0.028581	0	0
PLGLA	285189	broad.mit.edu	37	2	107007416	107007416	+	RNA	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:107007416C>T	ENST00000484422.1	+	0	265																											GGGACGATGTCCAAAACAAAA	0.438000													3	26					0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179616237	179616237	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:179616237C>T	ENST00000360870.5	-	46	11112	c.10890G>A	c.(10888-10890)agG>agA	p.R3630R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9479	Ig-like 22.						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)			CAACCTTTATCCTATCTTCTC	0.363000													19	85					0	0	0.016522	0	0
ABCB5	340273	broad.mit.edu	37	7	20766713	20766713	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:20766713G>A	ENST00000404938.2	+	22	3328	c.2676G>A	c.(2674-2676)agG>agA	p.R892R	ABCB5_ENST00000258738.6_Silent_p.R447R	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	447					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CATTAACAAGGGAAAAAGCCT	0.308000													8	34					0	0	0.008291	0	0
GALNT2	2590	broad.mit.edu	37	1	230390970	230390970	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:230390970C>T	ENST00000366672.4	+	11	1088	c.1016C>T	c.(1015-1017)tCg>tTg	p.S339L	GALNT2_ENST00000541865.1_Silent_p.L214L|GALNT2_ENST00000543760.1_Missense_Mutation_p.S301L	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	339	Catalytic subdomain B.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TCAGAGATCTCGTTCCGCGTG	0.617000													21	88					0	0	0.014323	0	0
GRHL2	79977	broad.mit.edu	37	8	102589725	102589725	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:102589725G>A	ENST00000251808.3	+	7	1319	c.981G>A	c.(979-981)gcG>gcA	p.A327A	GRHL2_ENST00000395927.1_Silent_p.A311A	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	327						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			AGCATACGGCGAAGCAGAGGG	0.498000													11	45					0	0	0.010729	0	0
SPOCD1	90853	broad.mit.edu	37	1	32264052	32264052	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:32264052G>A	ENST00000360482.2	-	8	2148	c.2019C>T	c.(2017-2019)ccC>ccT	p.P673P	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Silent_p.P673P|SPOCD1_ENST00000257100.3_Silent_p.P166P	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	673	TFIIS central.				transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCAGGTTCCTGGGGTCCCGCA	0.617000													14	37					0	0	0.004990	0	0
MEF2D	4209	broad.mit.edu	37	1	156437893	156437893	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:156437893G>A	ENST00000348159.4	-	11	1926	c.1446C>T	c.(1444-1446)gaC>gaT	p.D482D	MEF2D_ENST00000360595.3_Silent_p.D475D|MEF2D_ENST00000353795.3_Silent_p.D436D|MEF2D_ENST00000464356.1_5'UTR|MEF2D_ENST00000368240.2_Silent_p.D475D|MEF2D_ENST00000340875.5_Silent_p.D481D	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	482					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGTCATCCCGGTCTCCCGTCT	0.701000													15	38					0	0	0.028581	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138638	126138638	+	Silent	SNP	C	C	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:126138638C>A	ENST00000299308.3	+	9	2627	c.2619C>A	c.(2617-2619)ccC>ccA	p.P873P	TMEM132B_ENST00000535886.1_Silent_p.P385P	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	873						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAAGCTTCCCCACTCAAGGGA	0.507000													9	21					7.48243e-07	7.8451e-07	0.006214	1	0
POTEA	340441	broad.mit.edu	37	8	43159852	43159852	+	RNA	SNP	T	T	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:43159852T>A	ENST00000522175.2	+	0	708							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AATTTGCCAATTACTTTCTGA	0.284000													8	20					0	0	0.003080	0	0
SCN3A	6328	broad.mit.edu	37	2	165994598	165994598	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:165994598G>A	ENST00000360093.3	-	15	2673	c.2182C>T	c.(2182-2184)Cca>Tca	p.P728S	SCN3A_ENST00000283254.7_Missense_Mutation_p.P728S|SCN3A_ENST00000409101.3_Missense_Mutation_p.P679S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	728						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TACCAGCATGGCGGACATTTC	0.348000													12	29					0	0	0.016723	0	0
TNR	7143	broad.mit.edu	37	1	175335040	175335040	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:175335040C>T	ENST00000367674.1	-	11	2996	c.2288G>A	c.(2287-2289)aGc>aAc	p.S763N	TNR_ENST00000263525.2_Missense_Mutation_p.S763N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	763	Fibronectin type-III 5.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGACTCCAAGCTCTGCTGCCG	0.532000													18	66					0	0	0.008871	0	0
GBP3	2635	broad.mit.edu	37	1	89480263	89480263	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:89480263C>T	ENST00000370481.4	-	4	615	c.395G>A	c.(394-396)gGa>gAa	p.G132E		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	132						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GTTGATGGTTCCCATGCTATT	0.522000													26	76					0	0	0.007291	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	37					0	0	0.009096	0	0
PEX5	5830	broad.mit.edu	37	12	7343061	7343061	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:7343061C>T	ENST00000266563.5	+	2	271	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F	PEX5_ENST00000412720.2_Missense_Mutation_p.L51F|PEX5_ENST00000434354.2_Missense_Mutation_p.L30F|PEX5_ENST00000420616.2_Missense_Mutation_p.L30F|PEX5_ENST00000455147.2_Missense_Mutation_p.L30F|PEX5_ENST00000545220.1_Intron|PEX5_ENST00000266564.3_Missense_Mutation_p.L30F	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	30					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GGACAAGGCCCTTCGGCAGGA	0.677000													6	44					0	0	0.001984	0	0
DNAH11	8701	broad.mit.edu	37	7	21826306	21826306	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:21826306C>T	ENST00000328843.6	+	60	9714	c.9683C>T	c.(9682-9684)gCc>gTc	p.A3228V	DNAH11_ENST00000409508.3_Missense_Mutation_p.A3221V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3228	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTTACTGCAGCCGTGATGGTC	0.522000									Kartagener syndrome				13	87					0	0	0.020292	0	0
SEC14L4	284904	broad.mit.edu	37	22	30891916	30891916	+	Splice_Site	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr22:30891916C>T	ENST00000392772.2	-	3	288	c.12_splice	c.e3+1	p.R4_splice	SEC14L4_ENST00000540456.1_Splice_Site_p.G27_splice|SEC14L4_ENST00000255858.7_Splice_Site_p.R58_splice|SEC14L4_ENST00000381982.3_Splice_Site_p.R58_splice			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	58						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GATCCTTACCCTTCGGAGCAT	0.517000													4	20					0	0	0.021553	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803196	185803196	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:185803196G>A	ENST00000302277.6	+	4	3667	c.3073G>A	c.(3073-3075)Gct>Act	p.A1025T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1025						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GCAAATCCTGGCTCCATTAGC	0.418000													6	53					0	0	0.021553	0	0
PAH	5053	broad.mit.edu	37	12	103248959	103248959	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:103248959C>T	ENST00000553106.1	-	6	1133	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	PAH_ENST00000307000.2_Missense_Mutation_p.E216K	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	221			E -> G (in PKU; haplotype 4).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	ATGTTATCTTCATGGAAGCCA	0.463000													6	27					0	0	0.001984	0	0
OBSCN	84033	broad.mit.edu	37	1	228444355	228444355	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:228444355C>T	ENST00000570156.2	+	16	4663	c.4589C>T	c.(4588-4590)cCc>cTc	p.P1530L	OBSCN_ENST00000284548.11_Missense_Mutation_p.P1438L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.P1438L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.P2L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	508	Ig-like 16.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCCCAGAGCCCAAGGTGGTG	0.642000													4	33					0	0	0.009096	0	0
C6	729	broad.mit.edu	37	5	41155163	41155163	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:41155163G>A	ENST00000263413.3	-	14	2276	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L	C6_ENST00000337836.5_Missense_Mutation_p.S671L	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	671	C5b-binding domain.|Sushi 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGTAAGGCATGAAATTTCAAC	0.398000													10	41					0	0	0.006214	0	0
LPPR2	64748	broad.mit.edu	37	19	11474875	11474875	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:11474875G>A	ENST00000251473.5	+	9	1362	c.986G>A	c.(985-987)gGc>gAc	p.G329D	DKFZP761J1410_ENST00000591608.1_Silent_p.R309R	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CACCGGCACGGCTCACCCCAT	0.647000													13	94					0	0	0.024245	0	0
GZMB	3002	broad.mit.edu	37	14	25101557	25101557	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr14:25101557G>C	ENST00000216341.4	-	3	418	c.312C>G	c.(310-312)aaC>aaG	p.N104K	GZMB_ENST00000382542.1_Missense_Mutation_p.N138K|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382540.1_Intron|GZMB_ENST00000415355.3_Missense_Mutation_p.N92K|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000526004.1_Intron			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	104	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		CGTTGGAGAAGTTCTTAGGAT	0.537000													31	106					0	0	0.021022	0	0
EDC4	23644	broad.mit.edu	37	16	67910468	67910468	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr16:67910468C>G	ENST00000358933.5	+	3	556	c.317C>G	c.(316-318)tCt>tGt	p.S106C	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	106					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		AGCAGTGACTCTAGCATTTCA	0.527000													3	37					0	0	0.014758	0	0
PCK1	5105	broad.mit.edu	37	20	56138106	56138106	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr20:56138106C>T	ENST00000319441.4	+	5	797	c.633C>T	c.(631-633)ccC>ccT	p.P211P	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Silent_p.P79P	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	211					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ACAACTGGCCCTGCAACCCGG	0.632000													10	53					0	0	0.008291	0	0
DNAH5	1767	broad.mit.edu	37	5	13824439	13824439	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:13824439G>A	ENST00000265104.4	-	39	6552	c.6448C>T	c.(6448-6450)Cat>Tat	p.H2150Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2150	AAA 1 (By similarity).				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)					AAGTCATAATGAACCTAGAGA	0.388000									Kartagener syndrome				3	23					0	0	0.004672	0	0
FBXO31	79791	broad.mit.edu	37	16	87364906	87364906	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr16:87364906G>A	ENST00000311635.7	-	9	1620	c.1608C>T	c.(1606-1608)tcC>tcT	p.S536S	RP11-178L8.4_ENST00000568879.1_Intron	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	536					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGGAGGTGAGGGACTGAATGT	0.582000													8	22					0	0	0.003080	0	0
GON4L	54856	broad.mit.edu	37	1	155736235	155736235	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:155736235G>A	ENST00000437809.1	-	21	3151	c.3029C>T	c.(3028-3030)cCc>cTc	p.P1010L	GON4L_ENST00000271883.5_Missense_Mutation_p.P1010L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.P1010L|GON4L_ENST00000368331.1_Missense_Mutation_p.P1010L			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1010					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGGAGAGAGGGGCTGGGTTG	0.557000													17	75					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179434480	179434480	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:179434480C>T	ENST00000589042.1	-	326	76603	c.76379G>A	c.(76378-76380)gGa>gAa	p.G25460E	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G16395E|TTN_ENST00000342175.6_Missense_Mutation_p.G16587E|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16520E|TTN_ENST00000342992.6_Missense_Mutation_p.G22892E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G23819E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23819	Fibronectin type-III 85.						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)			TTTATTAATTCCTGTTGGTGG	0.373000													10	49					0	0	0.010729	0	0
CAPN13	92291	broad.mit.edu	37	2	31010176	31010176	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:31010176C>T	ENST00000295055.8	-	2	192	c.16G>A	c.(16-18)Gag>Aag	p.E6K	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.E6K	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	6					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					ACTGAAGGCTCCTGGTAATAC	0.502000													4	9					0	0	0.014758	0	0
SUN5	140732	broad.mit.edu	37	20	31585462	31585462	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr20:31585462C>T	ENST00000356173.3	-	6	464	c.372G>A	c.(370-372)tcG>tcA	p.S124S	SUN5_ENST00000375523.3_Silent_p.S99S	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	124					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CTTTCATTTTCGATGGTAAGT	0.473000													9	58					0	0	0.008291	0	0
FOLH1B	219595	broad.mit.edu	37	11	89424095	89424095	+	RNA	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr11:89424095G>A	ENST00000532352.1	+	0	1558							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CAGTGTCTATGAAACATATGA	0.368000													8	23					0	0	0.006214	0	0
SHOX2	6474	broad.mit.edu	37	3	157818099	157818099	+	Splice_Site	SNP	A	A	G			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:157818099A>G	ENST00000490689.2	-	3	1703	c.168_splice	c.e3-1	p.V57_splice	SHOX2_ENST00000425436.3_Splice_Site_p.V186_splice|SHOX2_ENST00000441443.2_Splice_Site_p.V57_splice|SHOX2_ENST00000483851.2_Splice_Site_p.V186_splice|SHOX2_ENST00000389589.4_Splice_Site_p.V210_splice			O60902	SHOX2_HUMAN	short stature homeobox 2	186					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V57A(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTGAAACCAAACCTATAGGTT	0.313000													5	56					0	0	0.014758	0	0
IGDCC4	57722	broad.mit.edu	37	15	65682535	65682535	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr15:65682535G>A	ENST00000352385.2	-	13	2575	c.2366C>T	c.(2365-2367)cCc>cTc	p.P789L		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	789	Fibronectin type-III 4.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GAGCCCCCAGGGGCTGAAGCG	0.517000													11	32					0	0	0.013537	0	0
SMPD3	55512	broad.mit.edu	37	16	68405331	68405331	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr16:68405331C>T	ENST00000219334.5	-	3	1357	c.754G>A	c.(754-756)Ggc>Agc	p.G252S	SMPD3_ENST00000563226.1_Missense_Mutation_p.G252S|SMPD3_ENST00000568373.1_Missense_Mutation_p.G252S	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	252					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GGCCGGCCGCCCTCCTCGCCA	0.711000													4	20					0	0	0.009096	0	0
CSMD1	64478	broad.mit.edu	37	8	3076863	3076863	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:3076863C>T	ENST00000602557.1	-	30	5144	c.4589G>A	c.(4588-4590)aGa>aAa	p.R1530K	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1530K|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1529K|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1529K|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1529K|CSMD1_ENST00000520002.1_Missense_Mutation_p.R1530K|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1530K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1530	CUB 9.					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)		ACTCTCTATTCTTTCTGGGGC	0.507000													3	4					0	0	0.004672	0	0
FPR3	2359	broad.mit.edu	37	19	52327094	52327094	+	Silent	SNP	A	A	G			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:52327094A>G	ENST00000339223.4	+	2	272	c.93A>G	c.(91-93)ctA>ctG	p.L31L	FPR3_ENST00000595991.1_Silent_p.L31L	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	31					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TCTCATTGCTAGTCCACGGAG	0.542000													11	49					0	0	0.008291	0	0
CLVS1	157807	broad.mit.edu	37	8	62212827	62212827	+	Silent	SNP	T	T	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:62212827T>C	ENST00000519846.1	+	3	913	c.441T>C	c.(439-441)aaT>aaC	p.N147N	CLVS1_ENST00000325897.4_Silent_p.N147N|CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000518064.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	147	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TTGCAGCCAATTGGGATCAGA	0.438000													3	22					0	0	0.004672	0	0
MFSD4	148808	broad.mit.edu	37	1	205554035	205554035	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:205554035G>A	ENST00000367147.4	+	5	984	c.891G>A	c.(889-891)agG>agA	p.R297R	MFSD4_ENST00000536357.1_Silent_p.R210R|MFSD4_ENST00000539267.1_Silent_p.R297R	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	297					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GCTGCCAAAGGAAGAACCTCA	0.587000											OREG0014158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	91					0	0	0.007291	0	0
RPRD2	23248	broad.mit.edu	37	1	150444375	150444375	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:150444375C>T	ENST00000401000.4	+	10	2938	c.2873C>T	c.(2872-2874)cCc>cTc	p.P958L	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.P984L|RPRD2_ENST00000539519.1_Silent_p.S911S			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	984							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTTGCCGCTCCCACGGGTCAC	0.547000													52	233					0	0	0.014410	0	0
PROX1	5629	broad.mit.edu	37	1	214171436	214171436	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:214171436G>A	ENST00000366958.4	+	2	2166	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	PROX1_ENST00000498508.2_Missense_Mutation_p.D520N|PROX1_ENST00000435016.1_Missense_Mutation_p.D520N|PROX1_ENST00000261454.4_Missense_Mutation_p.D520N	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	520					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTTAACTAGGGATACCACGAG	0.557000													10	88					0	0	0.013537	0	0
MAN1A1	4121	broad.mit.edu	37	6	119525949	119525949	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:119525949G>A	ENST00000368468.3	-	7	1532	c.1091C>T	c.(1090-1092)tCa>tTa	p.S364L		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	364					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GGGGTTTCCTGATAAGTGGCT	0.468000													12	59					0	0	0.010729	0	0
OR8D1	283159	broad.mit.edu	37	11	124180174	124180174	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr11:124180174C>T	ENST00000357821.2	-	1	559	c.489G>A	c.(487-489)atG>atA	p.M163I		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ACAGTTTCATCATGGCACTTG	0.468000													4	14					0	0	0.014758	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515911	140515911	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:140515911G>A	ENST00000231134.5	+	1	1112	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		299	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAAACAGCAGAAATTCGCCT	0.448000													20	74					0	0	0.010504	0	0
DCAF6	55827	broad.mit.edu	37	1	168012370	168012370	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:168012370G>A	ENST00000367840.3	+	14	1929	c.1835G>A	c.(1834-1836)aGt>aAt	p.S612N	DCAF6_ENST00000367843.3_Missense_Mutation_p.S555N|DCAF6_ENST00000312263.6_Missense_Mutation_p.S535N|DCAF6_ENST00000432587.2_Missense_Mutation_p.S581N	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	571					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GAAGGAGACAGTGAAACAAGT	0.408000													11	37					0	0	0.010729	0	0
CTRC	11330	broad.mit.edu	37	1	15772132	15772132	+	Missense_Mutation	SNP	G	G	A	rs142027137		TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:15772132G>A	ENST00000375949.4	+	7	706	c.680G>A	c.(679-681)gGt>gAt	p.G227D	CTRC_ENST00000483406.1_3'UTR|CTRC_ENST00000375943.2_3'UTR	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	227	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGAGAACGGTTCCTGGGAG	0.647000													24	65					0	0	0.018920	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5146391	5146391	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:5146391C>T	ENST00000274181.7	+	3	462	c.324C>T	c.(322-324)ttC>ttT	p.F108F	ADAMTS16_ENST00000511368.1_Silent_p.F108F|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	108					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGCACGACTTCCACATGGATC	0.552000													11	39					0	0	0.008291	0	0
SMARCA5	8467	broad.mit.edu	37	4	144466732	144466732	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:144466732A>C	ENST00000283131.3	+	18	2855	c.2393A>C	c.(2392-2394)tAc>tCc	p.Y798S		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	798					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					ACTATTGGGTACAAGGTAATT	0.318000													4	39					0	0	0.009096	0	0
OR2W5	441932	broad.mit.edu	37	1	247654770	247654770	+	RNA	SNP	T	T	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:247654770T>C	ENST00000522351.1	+	0	401							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GAGTGCGTCCTCCTGGTTGTC	0.602000													10	63					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179606096	179606096	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:179606096G>A	ENST00000589042.1	-	48	12088	c.11864C>T	c.(11863-11865)gCc>gTc	p.A3955V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A3592V|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A3784V|TTN_ENST00000359218.5_Missense_Mutation_p.A3717V|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A3638V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3638							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)			CTCAAAGATGGCAGGAAGCCC	0.458000													35	125					0	0	0.017118	0	0
OR13C2	392376	broad.mit.edu	37	9	107367138	107367138	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr9:107367138G>A	ENST00000542196.1	-	1	813	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TCATGTACATGAAGAGGATGG	0.438000													6	49					0	0	0.001984	0	0
REPS2	9185	broad.mit.edu	37	X	17040294	17040294	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:17040294G>A	ENST00000357277.3	+	3	617	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	REPS2_ENST00000303843.7_Missense_Mutation_p.R149Q|REPS2_ENST00000380064.4_Missense_Mutation_p.R10Q	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	149					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GGTGAGATACGATTTGGGAAC	0.393000													18	95					0	0	0.007413	0	0
PKD1L1	168507	broad.mit.edu	37	7	47913507	47913507	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:47913507C>T	ENST00000289672.2	-	24	3936	c.3886G>A	c.(3886-3888)Ggc>Agc	p.G1296S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1296	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGGTCCTCGCCCAGACAGTCA	0.507000													8	36					0	0	0.003080	0	0
PKD1L1	168507	broad.mit.edu	37	7	47874752	47874752	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:47874752G>A	ENST00000289672.2	-	38	6083	c.6033C>T	c.(6031-6033)tcC>tcT	p.S2011S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2011					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGAAGAGCAGGGACAAGAGCT	0.607000													7	41					0	0	0.003080	0	0
TMC5	79838	broad.mit.edu	37	16	19485449	19485449	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr16:19485449C>T	ENST00000396229.2	+	12	2690	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F	TMC5_ENST00000564959.1_Silent_p.F330F|TMC5_ENST00000561503.1_Silent_p.F288F|TMC5_ENST00000542583.2_Silent_p.F647F|TMC5_ENST00000541464.1_Silent_p.F595F|TMC5_ENST00000381414.4_Silent_p.F647F|TMC5_ENST00000219821.5_Silent_p.F401F	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	647						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCCTGCAGTTCCTGAAGACAC	0.522000													25	106					0	0	0.009535	0	0
HLA-F	3134	broad.mit.edu	37	6	29692182	29692182	+	Silent	SNP	C	C	T	rs138293991	by1000genomes	TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:29692182C>T	ENST00000440587.2	+	3	572	c.213C>T	c.(211-213)ctC>ctT	p.L71L	HLA-F_ENST00000434407.2_Silent_p.L189L|HLA-F_ENST00000334668.4_Silent_p.L189L|HLA-F_ENST00000376861.1_Silent_p.L189L|HLA-F_ENST00000259951.7_Silent_p.L189L			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	189	Alpha-1.		P -> Q (in dbSNP:rs17875380).		antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	p.L189L(2)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGGAGTTGCTCCGCAGATACT	0.602000													8	52					0	0	0.004482	0	0
NAA25	80018	broad.mit.edu	37	12	112499158	112499158	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:112499158G>A	ENST00000261745.4	-	12	1432	c.1184C>T	c.(1183-1185)tCg>tTg	p.S395L		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	395						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TGTTGGTGTCGACAAAGGAAC	0.453000													9	32					0	0	0.006214	0	0
TBC1D8	11138	broad.mit.edu	37	2	101652558	101652558	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:101652558G>A	ENST00000409318.1	-	9	1655	c.1525C>T	c.(1525-1527)Cgc>Tgc	p.R509C	TBC1D8_ENST00000376840.4_Missense_Mutation_p.R494C	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	494	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TTCTCTGTGCGAAACATACAC	0.468000													20	122					0	0	0.010504	0	0
CTSW	1521	broad.mit.edu	37	11	65649973	65649973	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr11:65649973G>A	ENST00000528419.1	+	5	518	c.514G>A	c.(514-516)Gat>Aat	p.D172N	CTSW_ENST00000307886.3_Missense_Mutation_p.D172N			P56202	CATW_HUMAN	cathepsin W	172					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CAGTTTCTGGGATTTTGTGGA	0.627000													10	45					0	0	0.008291	0	0
SI	6476	broad.mit.edu	37	3	164750437	164750437	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:164750437C>T	ENST00000264382.3	-	24	2671	c.2609G>A	c.(2608-2610)gGa>gAa	p.G870E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	870	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAAGGTAGTTCCTTCCTGATA	0.348000										HNSCC(35;0.089)			6	34					0	0	0.001984	0	0
OR5H14	403273	broad.mit.edu	37	3	97868537	97868537	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:97868537C>T	ENST00000437310.1	+	1	368	c.308C>T	c.(307-309)tCg>tTg	p.S103L		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S103L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CAGTTGTTTTCGTTTGCAATC	0.393000													28	100					0	0	0.008361	0	0
PTPN3	5774	broad.mit.edu	37	9	112172648	112172648	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr9:112172648G>A	ENST00000412145.1	-	10	3521	c.968C>T	c.(967-969)tCa>tTa	p.S323L	PTPN3_ENST00000446349.1_Missense_Mutation_p.S278L|PTPN3_ENST00000374541.2_Missense_Mutation_p.S454L|PTPN3_ENST00000262539.3_Missense_Mutation_p.S300L|PTPN3_ENST00000394827.3_5'UTR	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	454					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGAACTGGATGACTTCTGGGT	0.468000													6	55					0	0	0.021553	0	0
PKP2	5318	broad.mit.edu	37	12	33003895	33003895	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:33003895G>A	ENST00000340811.4	-	5	1291	c.1183C>T	c.(1183-1185)Cgt>Tgt	p.R395C	PKP2_ENST00000070846.6_Missense_Mutation_p.R395C	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	395					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGGATGCCACGAAGCTGGTTA	0.408000													16	36					0	0	0.024245	0	0
MARCO	8685	broad.mit.edu	37	2	119748183	119748183	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:119748183G>A	ENST00000541757.1	+	14	1228	c.848G>A	c.(847-849)gGa>gAa	p.G283E	MARCO_ENST00000327097.4_Missense_Mutation_p.G361E			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	361	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGACAGCAAGGAAGAAAAGGA	0.468000													14	43					0	0	0.004990	0	0
DOCK4	9732	broad.mit.edu	37	7	111409609	111409609	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:111409609G>A	ENST00000428084.1	-	37	4076	c.3804C>T	c.(3802-3804)atC>atT	p.I1268I	DOCK4_ENST00000494651.2_Silent_p.I142I|DOCK4_ENST00000437633.1_Silent_p.I1259I			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1259	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AGTTCTGGATGATGGTGAGGT	0.552000													16	61					0	0	0.006122	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508025	37508025	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:37508025G>A	ENST00000374660.1	+	40	3673	c.3574G>A	c.(3574-3576)Gaa>Aaa	p.E1192K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1073K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1073K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1161						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCAGGAAAAGGAAAATAAATA	0.318000													18	44					0	0	0.004990	0	0
VCAN	1462	broad.mit.edu	37	5	82815321	82815321	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:82815321G>A	ENST00000265077.3	+	7	1761	c.1196G>A	c.(1195-1197)gGa>gAa	p.G399E	VCAN_ENST00000342785.4_Missense_Mutation_p.G399E|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.G351E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	399	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCTCCCGTGGGAAATATTGTC	0.423000													7	99					0	0	0.001984	0	0
SORBS1	10580	broad.mit.edu	37	10	97097017	97097017	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:97097017G>A	ENST00000371247.2	-	30	3089	c.2900C>T	c.(2899-2901)cCc>cTc	p.P967L	SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.P921L|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.P967L			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	967					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CAGAGATGAGGGGGCTGGCGT	0.532000													3	15					0	0	0.004672	0	0
CXCR3	2833	broad.mit.edu	37	X	70836525	70836525	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:70836525A>C	ENST00000373691.4	-	2	1101	c.938T>G	c.(937-939)cTc>cGc	p.L313R	CXCR3_ENST00000373693.3_Missense_Mutation_p.L266R	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	266					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					GGTCCAGCAGAGGGCAAAGGC	0.662000													3	26					0	0	0.009096	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174235	150174235	+	Silent	SNP	G	G	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:150174235G>T	ENST00000307271.3	+	5	1939	c.1365G>T	c.(1363-1365)ggG>ggT	p.G455G		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	455						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTGCGACCGGGAACTCTATCC	0.592000													11	66					2.80697e-09	2.96572e-09	0.010729	1	0
SPANXN5	494197	broad.mit.edu	37	X	52825576	52825576	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:52825576C>T	ENST00000375511.3	-	2	923	c.171G>A	c.(169-171)agG>agA	p.R57R		NM_001009616.2	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	57										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					TCTTAGTCTTCCTGTAGCACA	0.428000													6	52					0	0	0.021553	0	0
MYLK	4638	broad.mit.edu	37	3	123419849	123419849	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:123419849C>T	ENST00000360772.3	-	19	2844	c.2466G>A	c.(2464-2466)ggG>ggA	p.G822G	MYLK_ENST00000475616.1_Silent_p.G822G|MYLK_ENST00000346322.5_Silent_p.G753G|MYLK_ENST00000360304.3_Silent_p.G822G|MYLK_ENST00000359169.1_Silent_p.G822G			Q15746	MYLK_HUMAN	myosin light chain kinase	822					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGGCTCCCTCCCCCTGCAAC	0.592000													5	24					0	0	0.021553	0	0
PDGFRB	5159	broad.mit.edu	37	5	149495355	149495355	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:149495355G>A	ENST00000261799.4	-	23	3761	c.3292C>T	c.(3292-3294)Cgg>Tgg	p.R1098W		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1098					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTTCCGCCCGAGGCGCAGGG	0.687000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								10	30					0	0	0.020292	0	0
TCTN1	79600	broad.mit.edu	37	12	111066730	111066730	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:111066730C>T	ENST00000550703.2	+	4	787	c.631C>T	c.(631-633)Ctg>Ttg	p.L211L	TCTN1_ENST00000551555.2_Intron|TCTN1_ENST00000551590.1_Intron|TCTN1_ENST00000397659.4_Intron|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Intron|TCTN1_ENST00000377654.3_Intron			Q2MV58	TECT1_HUMAN	tectonic family member 1	213					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TGAGGTGAGCCTGAACTTGAT	0.358000													9	26					0	0	0.006214	0	0
CRNN	49860	broad.mit.edu	37	1	152383215	152383215	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:152383215C>T	ENST00000271835.3	-	3	405	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	115					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGTCCTTCGCCCAGCTCC	0.617000													44	230					0	0	0.014410	0	0
AKR1B10	57016	broad.mit.edu	37	7	134215553	134215553	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:134215553C>T	ENST00000359579.4	+	2	545	c.225C>T	c.(223-225)atC>atT	p.I75I	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	75					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						ACCTGTTCATCGTCAGCAAGG	0.512000													10	55					0	0	0.010729	0	0
DAW1	164781	broad.mit.edu	37	2	228750084	228750084	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:228750084G>A	ENST00000373666.2	+	2	694	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	DAW1_ENST00000545118.1_Missense_Mutation_p.E5K|DAW1_ENST00000309931.2_Missense_Mutation_p.E20K					dynein assembly factor with WDR repeat domains 1																		GTTGGAATATGAAAAACATGG	0.338000													8	54					0	0	0.008291	0	0
IL6	3569	broad.mit.edu	37	7	22769227	22769227	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:22769227C>G	ENST00000404625.1	+	5	878	c.419C>G	c.(418-420)gCc>gGc	p.A140G	IL6_ENST00000420258.2_Missense_Mutation_p.A194G|IL6_ENST00000258743.5_Missense_Mutation_p.A140G|IL6_ENST00000401651.1_Missense_Mutation_p.A64G|IL6_ENST00000407492.1_Missense_Mutation_p.A64G|IL6_ENST00000406575.1_Missense_Mutation_p.A140G|IL6_ENST00000401630.3_Missense_Mutation_p.A117G			P05231	IL6_HUMAN	interleukin 6 (interferon, beta 2)	140					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	GAGGAACAAGCCAGAGCTGTG	0.478000													13	50					0	0	0.020292	0	0
CYP4B1	1580	broad.mit.edu	37	1	47278227	47278227	+	Translation_Start_Site	SNP	C	C	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:47278227C>A	ENST00000452782.2	+	0	172				CYP4B1_ENST00000271153.4_Missense_Mutation_p.P143T|CYP4B1_ENST00000371923.4_Missense_Mutation_p.P143T|CYP4B1_ENST00000371919.4_Missense_Mutation_p.P128T			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1						xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GCTGCTCACACCTGGCTTTCA	0.587000													10	61					1.76689e-08	1.86203e-08	0.006214	1	0
MPP7	143098	broad.mit.edu	37	10	28409131	28409131	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:28409131G>A	ENST00000337532.5	-	11	1155	c.879C>T	c.(877-879)ttC>ttT	p.F293F	MPP7_ENST00000540098.1_Silent_p.F293F|MPP7_ENST00000375732.1_Silent_p.F293F|MPP7_ENST00000445954.2_Silent_p.F168F|MPP7_ENST00000375719.3_Silent_p.F293F	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	293	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						ACCTTTCCTGGAAATGCTTTG	0.438000													8	33					0	0	0.003080	0	0
SBSN	374897	broad.mit.edu	37	19	36017757	36017757	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:36017757G>A	ENST00000452271.2	-	1	1455	c.1427C>T	c.(1426-1428)gCg>gTg	p.A476V	SBSN_ENST00000518157.1_Missense_Mutation_p.A133V	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	133						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCCTTGGACCGCTTTGTCTGC	0.607000													12	16					0	0	0.013537	0	0
LAMA4	3910	broad.mit.edu	37	6	112440433	112440433	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:112440433C>T	ENST00000230538.7	-	34	5144	c.4747G>A	c.(4747-4749)Gaa>Aaa	p.E1583K	LAMA4_ENST00000424408.2_Missense_Mutation_p.E1576K|LAMA4_ENST00000389463.4_Missense_Mutation_p.E1576K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E1576K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1583	Laminin G-like 4.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGGTAGCTTCAGTAGGAGGA	0.478000													18	63					0	0	0.008871	0	0
AP2B1	163	broad.mit.edu	37	17	33977562	33977562	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:33977562C>T	ENST00000262325.7	+	13	2103	c.1550C>T	c.(1549-1551)cCt>cTt	p.P517L	AP2B1_ENST00000592545.1_Missense_Mutation_p.P479L|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000589344.1_Missense_Mutation_p.P517L|AP2B1_ENST00000538556.1_Missense_Mutation_p.P460L|AP2B1_ENST00000537622.2_Missense_Mutation_p.P517L|AP2B1_ENST00000312678.8_Missense_Mutation_p.P517L	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	517					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	p.P517R(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TCTGATAATCCTGACCTTCGA	0.443000													28	94					0	0	0.009535	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138637	126138637	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:126138637C>T	ENST00000299308.3	+	9	2626	c.2618C>T	c.(2617-2619)cCc>cTc	p.P873L	TMEM132B_ENST00000535886.1_Missense_Mutation_p.P385L	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	873						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACAAGCTTCCCCACTCAAGGG	0.507000													9	22					0	0	0.006214	0	0
MTMR7	9108	broad.mit.edu	37	8	17198974	17198974	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:17198974G>A	ENST00000180173.5	-	6	664	c.630C>T	c.(628-630)tcC>tcT	p.S210S	MTMR7_ENST00000523571.1_5'UTR|MTMR7_ENST00000521857.1_Silent_p.S210S	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	210	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CACTGAAGCCGGACAGGGGCT	0.577000													12	38					0	0	0.013537	0	0
CD160	11126	broad.mit.edu	37	1	145704307	145704307	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:145704307C>T	ENST00000235933.6	-	2	212	c.110G>A	c.(109-111)gGa>gAa	p.G37E	CD160_ENST00000401557.3_Missense_Mutation_p.G37E|CD160_ENST00000369288.2_Missense_Mutation_p.G37E|CD160_ENST00000369290.1_Intron			O95971	BY55_HUMAN	CD160 molecule	37	Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TAGTCGCGTTCCTTCCTGGGA	0.458000													5	36					0	0	0.001984	0	0
POLD1	5424	broad.mit.edu	37	19	50902643	50902643	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:50902643C>T	ENST00000440232.2	+	3	271	c.218C>T	c.(217-219)tCa>tTa	p.S73L	POLD1_ENST00000595904.1_Missense_Mutation_p.S73L|POLD1_ENST00000599857.1_Missense_Mutation_p.S73L	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	73					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GTCCCACCATCAGCCATAGAT	0.592000								DNA polymerases (catalytic subunits)					8	28					0	0	0.006214	0	0
SCRN2	90507	broad.mit.edu	37	17	45915274	45915274	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:45915274G>A	ENST00000584123.1	-	7	1543	c.1238C>T	c.(1237-1239)cCc>cTc	p.P413L	SCRN2_ENST00000407215.3_3'UTR|SCRN2_ENST00000290216.9_Missense_Mutation_p.P405L			Q96FV2	SCRN2_HUMAN	secernin 2	405					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CTCCCAGAGGGGTGGGGCCCA	0.662000													5	28					0	0	0.001984	0	0
MICAL3	57553	broad.mit.edu	37	22	18301315	18301315	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr22:18301315G>A	ENST00000441493.2	-	26	4464	c.4112C>T	c.(4111-4113)tCc>tTc	p.S1371F		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1371	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		ATCCTGGGGGGACTTTTCAAC	0.637000													15	168					0	0	0.028581	0	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020774	33020774	+	RNA	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr16:33020774G>A	ENST00000565407.2	+	0	182				RP11-19N8.2_ENST00000567619.1_RNA																							CAGGCTCCAGGGAAGGGACTG	0.562000													39	222					0	0	0.008740	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531943	140531943	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:140531943C>T	ENST00000231136.1	+	1	2105	c.2105C>T	c.(2104-2106)tCg>tTg	p.S702L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.S566L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		702					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.S702L(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCTCTTTTCGGTGCTCCTG	0.687000													31	116					0	0	0.017118	0	0
CYP2U1	113612	broad.mit.edu	37	4	108870574	108870574	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:108870574C>T	ENST00000332884.6	+	4	1632	c.1357C>T	c.(1357-1359)Cca>Tca	p.P453S	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.P244S	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	453					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		ACATAGAGACCCAGCCATTTG	0.408000													4	42					0	0	0.009096	0	0
ALG5	29880	broad.mit.edu	37	13	37569629	37569629	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr13:37569629G>A	ENST00000239891.3	-	2	237	c.171C>T	c.(169-171)ccC>ccT	p.P57P	ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000413537.2_Silent_p.P57P|ALG5_ENST00000443765.1_Silent_p.P57P	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	57					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		CCCATATGCTGGGTAAAGTTT	0.403000													14	57					0	0	0.020292	0	0
ZNF716	441234	broad.mit.edu	37	7	57522875	57522875	+	Splice_Site	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:57522875G>A	ENST00000420713.1	+	3	374		c.e3+1			NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AAACACCCAGGTAGGTGAGAG	0.458000													15	66					0	0	0.024245	0	0
IL7R	3575	broad.mit.edu	37	5	35876446	35876446	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:35876446G>A	ENST00000303115.3	+	8	1367	c.1238G>A	c.(1237-1239)aGc>aAc	p.S413N	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	413					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACTACAAACAGCACGCTGCCC	0.522000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						14	40					0	0	0.028581	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													3	36					0	0	0.004672	0	0
RFPL1	5988	broad.mit.edu	37	22	29837577	29837577	+	Silent	SNP	T	T	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr22:29837577T>A	ENST00000354373.2	+	2	629	c.420T>A	c.(418-420)atT>atA	p.I140I	RFPL1S_ENST00000461286.2_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	140	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TCCTCCTCATTTCTGACGACC	0.512000													19	58					0	0	0.012319	0	0
MYH9	4627	broad.mit.edu	37	22	36698617	36698617	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr22:36698617G>A	ENST00000216181.5	-	20	2726	c.2496C>T	c.(2494-2496)acC>acT	p.T832T		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	832					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CACGCACCTTGGTGAAGAGCC	0.567000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				15	48					0	0	0.004990	0	0
C3	718	broad.mit.edu	37	19	6702496	6702496	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:6702496C>T	ENST00000245907.6	-	18	2432	c.2340G>A	c.(2338-2340)gaG>gaA	p.E780E		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	780					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TTTTCGGTGGCTCTTTCAAGT	0.527000													16	72					0	0	0.004990	0	0
RNF8	9025	broad.mit.edu	37	6	37336896	37336896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:37336896C>T	ENST00000373479.4	+	3	1070	c.877C>T	c.(877-879)Cag>Tag	p.Q293*	RNF8_ENST00000469731.1_Nonsense_Mutation_p.Q293*|RNF8_ENST00000479516.1_3'UTR	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	293	Gln-rich.				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GCAGGAACTTCAGGACTTACA	0.468000													9	38					0	0	0.006214	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477438	110477438	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:110477438G>A	ENST00000378402.5	+	49	8481	c.8377G>A	c.(8377-8379)Gaa>Aaa	p.E2793K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2793					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTGGGAACATGAAATGGTAAT	0.388000										HNSCC(38;0.096)			5	30					0	0	0.003080	0	0
PRRC2A	7916	broad.mit.edu	37	6	31596995	31596995	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:31596995C>T	ENST00000376033.2	+	13	2074	c.1840C>T	c.(1840-1842)Cca>Tca	p.P614S	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P614S	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	614	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						ACCCCCAGTTCCAAAGGTGGA	0.552000													26	98					0	0	0.027356	0	0
DOCK11	139818	broad.mit.edu	37	X	117712602	117712602	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:117712602C>T	ENST00000276204.6	+	13	1578	c.1504C>T	c.(1504-1506)Cca>Tca	p.P502S	DOCK11_ENST00000276202.7_Missense_Mutation_p.P502S|DOCK11_ENST00000498252.1_3'UTR			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	502					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AAATTCTGATCCAGTAAAGGT	0.343000													5	19					0	0	0.014758	0	0
TMEM8C	389827	broad.mit.edu	37	9	136385350	136385350	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr9:136385350G>A	ENST00000339996.3	-	2	297	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	66						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						AAATACTCCAGGATGTCGTGA	0.587000													3	27					0	0	0.004672	0	0
SV2C	22987	broad.mit.edu	37	5	75490905	75490905	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:75490905C>T	ENST00000502798.2	+	3	1184	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	SV2C_ENST00000322285.7_Missense_Mutation_p.R248C	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	248					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCTCTTCTGTCGCTTACTTTC	0.388000													20	184					0	0	0.016522	0	0
ENTHD1	150350	broad.mit.edu	37	22	40161538	40161538	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr22:40161538G>A	ENST00000325157.6	-	6	1159	c.909C>T	c.(907-909)atC>atT	p.I303I		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	303								p.I303I(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TATTTGTAAAGATACCATCTG	0.383000													15	75					0	0	0.004990	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26885410	26885410	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:26885410C>T	ENST00000374168.2	+	14	1351	c.1197C>T	c.(1195-1197)ccC>ccT	p.P399P	RPS6KA1_ENST00000526792.1_Silent_p.P307P|RPS6KA1_ENST00000530003.1_Silent_p.P383P|RPS6KA1_ENST00000531382.1_Silent_p.P408P|RPS6KA1_ENST00000374166.4_Silent_p.P388P|RPS6KA1_ENST00000374162.2_Silent_p.P307P	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	399					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CGCAGGCACCCCTGCACTCGG	0.632000													16	35					0	0	0.006122	0	0
ZBED2	79413	broad.mit.edu	37	3	111312580	111312580	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:111312580C>T	ENST00000317012.4	-	2	1477	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	157							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						ACCTCCTTTTCCCTTTGGCTG	0.627000													18	56					0	0	0.016522	0	0
MRPL4	51073	broad.mit.edu	37	19	10367430	10367430	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:10367430G>A	ENST00000393733.2	+	5	401	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000590669.1_Missense_Mutation_p.R125Q|MRPL4_ENST00000253099.6_Missense_Mutation_p.R125Q|MRPL4_ENST00000588502.1_Missense_Mutation_p.R124Q|MRPL4_ENST00000307422.5_Missense_Mutation_p.R125Q			Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	125					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		GGCGGTGGCCGGAAGCCTTGG	0.687000													4	106					0	0	0.009096	0	0
PDGFRA	5156	broad.mit.edu	37	4	55153703	55153703	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:55153703C>T	ENST00000257290.5	+	19	3000	c.2669C>T	c.(2668-2670)tCc>tTc	p.S890F	FIP1L1_ENST00000507166.1_Missense_Mutation_p.S650F	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	890	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|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	p.S890F(1)		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)	GAGATCTTTTCCCTTGGTATG	0.483000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			20	54					0	0	0.008871	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217899	150217899	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:150217899G>A	ENST00000313543.4	+	2	994	c.837G>A	c.(835-837)agG>agA	p.R279R		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	279							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTTTAATAGGATTTGGAAGA	0.239000													6	20					0	0	0.003080	0	0
TNXB	7148	broad.mit.edu	37	6	32037589	32037589	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:32037589G>A	ENST00000375244.3	-	15	5529	c.5328C>T	c.(5326-5328)ccC>ccT	p.P1776P	TNXB_ENST00000375247.2_Silent_p.P1776P			P22105	TENX_HUMAN	tenascin XB	1858	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCCCAGACGGGGTTTTGGGG	0.587000													67	302					0	0	0.014410	0	0
TTC18	118491	broad.mit.edu	37	10	75101312	75101312	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:75101312C>T	ENST00000310715.3	-	7	757	c.637G>A	c.(637-639)Gga>Aga	p.G213R	TTC18_ENST00000401621.2_Missense_Mutation_p.G213R|TTC18_ENST00000394865.1_Missense_Mutation_p.G213R|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000340329.3_Missense_Mutation_p.G213R	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	213							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TTCAGAGTTCCATTCTTAAAT	0.413000													12	44					0	0	0.016723	0	0
KSR2	283455	broad.mit.edu	37	12	118293378	118293378	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:118293378G>A	ENST00000425217.1	-	3	294	c.240C>T	c.(238-240)atC>atT	p.I80I	KSR2_ENST00000339824.5_Silent_p.I109I	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	109					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCCGGGGGAGATTTCCTAGA	0.602000													7	20					0	0	0.001984	0	0
NUMB	8650	broad.mit.edu	37	14	73783103	73783103	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr14:73783103C>T	ENST00000355058.3	-	6	507	c.229G>A	c.(229-231)Gga>Aga	p.G77R	NUMB_ENST00000356296.4_Missense_Mutation_p.G77R|NUMB_ENST00000359560.3_Intron|NUMB_ENST00000555238.1_Missense_Mutation_p.G77R|NUMB_ENST00000454166.4_Missense_Mutation_p.G77R|NUMB_ENST00000557597.1_Intron|NUMB_ENST00000559312.1_Missense_Mutation_p.G77R|NUMB_ENST00000554546.1_Intron|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000544991.3_Missense_Mutation_p.G77R|NUMB_ENST00000535282.1_Intron|NUMB_ENST00000555394.1_Missense_Mutation_p.G77R|NUMB_ENST00000560335.1_Missense_Mutation_p.G77R			P49757	NUMB_HUMAN	numb homolog (Drosophila)	77	PID.				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		CTTACTTTTCCAAAGAAGCCT	0.403000													6	40					0	0	0.004482	0	0
LPA	4018	broad.mit.edu	37	6	161007619	161007619	+	Missense_Mutation	SNP	G	G	A	rs147936725	by1000genomes	TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:161007619G>A	ENST00000447678.1	-	26	4111	c.3991C>T	c.(3991-3993)Cgc>Tgc	p.R1331C	LPA_ENST00000316300.5_Missense_Mutation_p.R1331C	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3839	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CACCAAGGGCGAATCTCAGCA	0.498000													17	30					0	0	0.004990	0	0
PCYT1B	9468	broad.mit.edu	37	X	24625972	24625972	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:24625972C>T	ENST00000379145.1	-	3	214	c.170G>A	c.(169-171)aGg>aAg	p.R57K	PCYT1B_ENST00000356768.4_Missense_Mutation_p.R75K|PCYT1B_ENST00000379144.2_Missense_Mutation_p.R75K	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	75						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TCTGACAGGCCTGTCAGCTGT	0.443000													3	11					0	0	0.014758	0	0
KDM6A	7403	broad.mit.edu	37	X	44922683	44922683	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:44922683T>C	ENST00000377967.4	+	16	1585	c.1544T>C	c.(1543-1545)gTt>gCt	p.V515A	KDM6A_ENST00000543216.1_Missense_Mutation_p.V436A|KDM6A_ENST00000536777.1_Missense_Mutation_p.V470A|KDM6A_ENST00000382899.4_Missense_Mutation_p.V522A	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	515					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCAACAGGAGTTGCACAGGTA	0.458000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								7	32					0	0	0.003080	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948130	119948130	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:119948130C>T	ENST00000307142.4	+	3	802	c.606C>T	c.(604-606)tcC>tcT	p.S202S	SYNPO2_ENST00000429713.2_Silent_p.S202S|SYNPO2_ENST00000434046.2_Silent_p.S202S|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	202						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGCAACTGTCCCTTTCACAGG	0.537000													5	21					0	0	0.014758	0	0
ABCC8	6833	broad.mit.edu	37	11	17491762	17491762	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr11:17491762C>T	ENST00000302539.4	-	3	423	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	ABCC8_ENST00000389817.3_Missense_Mutation_p.E100K	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	100					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGGTGGGATTCGGTCACCCTG	0.527000													70	188					0	0	0.014410	0	0
MDGA1	266727	broad.mit.edu	37	6	37622290	37622290	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:37622290C>T	ENST00000434837.2	-	6	1920	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	MDGA1_ENST00000505425.1_Missense_Mutation_p.E248K|MDGA1_ENST00000297153.7_Missense_Mutation_p.E248K	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	248	Ig-like 3.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ACCAGAGTTTCGTTCACAGAC	0.617000													25	94					0	0	0.027356	0	0
ST7L	54879	broad.mit.edu	37	1	113124629	113124629	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:113124629G>A	ENST00000358039.4	-	9	1358	c.1054C>T	c.(1054-1056)Cta>Tta	p.L352L	ST7L_ENST00000343210.7_Silent_p.L352L|ST7L_ENST00000490067.1_Silent_p.L335L|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000544629.1_Silent_p.L287L|ST7L_ENST00000369666.1_Silent_p.L335L|ST7L_ENST00000369668.2_Silent_p.L352L|ST7L_ENST00000369669.1_Silent_p.L169L|ST7L_ENST00000360743.4_Silent_p.L352L|ST7L_ENST00000543570.1_Silent_p.L335L|ST7L_ENST00000538187.1_Silent_p.L296L	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	352					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATTTTGCTAGGACTGCCTGA	0.323000													5	27					0	0	0.021553	0	0
ETNK1	55500	broad.mit.edu	37	12	22796809	22796809	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:22796809G>A	ENST00000266517.4	+	2	625	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	ETNK1_ENST00000335148.3_Missense_Mutation_p.R179Q	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	179					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTAGTCGATCGAGATGAGGAA	0.403000													10	63					0	0	0.008291	0	0
GRIA1	2890	broad.mit.edu	37	5	153190642	153190642	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:153190642C>T	ENST00000285900.5	+	16	2921	c.2578C>T	c.(2578-2580)Ccc>Tcc	p.P860S	GRIA1_ENST00000340592.5_Missense_Mutation_p.P860S|GRIA1_ENST00000521843.2_Missense_Mutation_p.P791S|GRIA1_ENST00000518142.1_Missense_Mutation_p.P780S|GRIA1_ENST00000518783.1_Missense_Mutation_p.P870S|GRIA1_ENST00000448073.4_Missense_Mutation_p.P870S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	860					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATCGACCCTCCCCCGCAACAG	0.582000													8	54					0	0	0.006214	0	0
ZAN	7455	broad.mit.edu	37	7	100334225	100334225	+	RNA	SNP	G	G	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:100334225G>C	ENST00000542585.1	+	0	374				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGGCTCCACCGGGGCCCCCGG	0.642000													14	21					0	0	0.024245	0	0
APH1A	51107	broad.mit.edu	37	1	150238977	150238977	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:150238977A>G	ENST00000360244.4	-	6	1181	c.689T>C	c.(688-690)aTc>aCc	p.I230T	APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000369109.3_Missense_Mutation_p.I230T|APH1A_ENST00000414276.2_Missense_Mutation_p.I160T	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	230					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCAGCTGTGATGAAGGCCCA	0.562000													5	31					0	0	0.014758	0	0
SNHG14	104472715	broad.mit.edu	37	15	25432747	25432747	+	RNA	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr15:25432747G>A	ENST00000424208.1	+	0	761				SNORD115-10_ENST00000365073.1_RNA	NR_003305.1																						ATGCTCAATAGGATTACGCTG	0.483000													59	158					0	0	0.014410	0	0
KRT26	353288	broad.mit.edu	37	17	38926324	38926324	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:38926324C>T	ENST00000335552.4	-	4	780	c.732G>A	c.(730-732)atG>atA	p.M244I		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	244	Linker 12.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				GGGTTGCATTCATCTCCACGT	0.483000													22	67					0	0	0.012319	0	0
VASH2	79805	broad.mit.edu	37	1	213146268	213146268	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:213146268G>A	ENST00000366968.4	+	7	999	c.649G>A	c.(649-651)Gag>Aag	p.E217K	VASH2_ENST00000517399.1_Missense_Mutation_p.E282K|VASH2_ENST00000366967.2_Missense_Mutation_p.E178K|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366965.2_Missense_Mutation_p.E238K|VASH2_ENST00000366964.3_Missense_Mutation_p.E140K|VASH2_ENST00000366966.2_Missense_Mutation_p.E217K	NM_001136474.1	NP_001129946.1	Q86V25	VASH2_HUMAN	vasohibin 2	282					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		CATAAGGAAGGAGCTGGAGAA	0.527000													10	37					0	0	0.008291	0	0
SPEG	10290	broad.mit.edu	37	2	220350076	220350076	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:220350076G>A	ENST00000312358.7	+	31	7750	c.7618G>A	c.(7618-7620)Gaa>Aaa	p.E2540K	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2540					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCCCCAGGGGAAAGCCGAAG	0.607000													10	80					0	0	0.013537	0	0
NFATC4	4776	broad.mit.edu	37	14	24839583	24839583	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr14:24839583C>T	ENST00000413692.2	+	3	1312	c.1168C>T	c.(1168-1170)Cct>Tct	p.P390S	NFATC4_ENST00000554591.1_Missense_Mutation_p.P390S|NFATC4_ENST00000554966.1_Missense_Mutation_p.P340S|NFATC4_ENST00000556169.1_Missense_Mutation_p.P315S|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000539237.2_Missense_Mutation_p.P359S|NFATC4_ENST00000554344.1_Missense_Mutation_p.P257S|NFATC4_ENST00000554050.1_Missense_Mutation_p.P327S|NFATC4_ENST00000424781.2_Missense_Mutation_p.P340S|NFATC4_ENST00000553879.1_Missense_Mutation_p.P257S|NFATC4_ENST00000553708.1_Missense_Mutation_p.P327S|NFATC4_ENST00000553469.1_Missense_Mutation_p.P359S|NFATC4_ENST00000250373.4_Missense_Mutation_p.P327S|NFATC4_ENST00000554661.1_Missense_Mutation_p.P257S|NFATC4_ENST00000557451.1_Missense_Mutation_p.P257S|NFATC4_ENST00000555453.1_Missense_Mutation_p.P315S|NFATC4_ENST00000422617.3_Missense_Mutation_p.P315S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P340S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P359S	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	327					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TGAGAGCATCCCTCAGAAGAC	0.662000													6	27					0	0	0.001984	0	0
SLC34A2	10568	broad.mit.edu	37	4	25673274	25673274	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:25673274C>T	ENST00000382051.3	+	9	1029	c.979C>T	c.(979-981)Ctc>Ttc	p.L327F	SLC34A2_ENST00000504570.1_Missense_Mutation_p.L326F|SLC34A2_ENST00000503434.1_Missense_Mutation_p.L326F	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	327					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CTCCCCTTCCCTCTGTTGGAC	0.502000			T	ROS1	NSCLC								14	164					0	0	0.020292	0	0
DNAH10	196385	broad.mit.edu	37	12	124323032	124323032	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:124323032G>A	ENST00000409039.3	+	28	4603	c.4578G>A	c.(4576-4578)gtG>gtA	p.V1526V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1526	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGACCCCGTGATCAAGAGGT	0.547000													4	15					0	0	0.009096	0	0
MECOM	2122	broad.mit.edu	37	3	168833264	168833264	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:168833264C>T	ENST00000464456.1	-	7	3032	c.1832G>A	c.(1831-1833)gGa>gAa	p.G611E	MECOM_ENST00000468789.1_Missense_Mutation_p.G611E|MECOM_ENST00000494292.1_Missense_Mutation_p.G799E|MECOM_ENST00000460814.1_Missense_Mutation_p.G611E|MECOM_ENST00000472280.1_Missense_Mutation_p.G612E|MECOM_ENST00000433243.2_Missense_Mutation_p.G612E|MECOM_ENST00000392736.3_Missense_Mutation_p.G611E|MECOM_ENST00000264674.3_Missense_Mutation_p.G676E	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	20							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCCTTTTTTTCCCCCAAACAC	0.502000													9	25					0	0	0.006214	0	0
ROBO1	6091	broad.mit.edu	37	3	78667013	78667013	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:78667013C>T	ENST00000436010.2	-	25	4934	c.3937G>A	c.(3937-3939)Gag>Aag	p.E1313K	ROBO1_ENST00000467549.1_Missense_Mutation_p.E1252K|ROBO1_ENST00000495273.1_Missense_Mutation_p.E1307K|ROBO1_ENST00000464233.1_Missense_Mutation_p.E1352K			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1352					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGTGTCTGCTCAAGCCCACGT	0.557000													7	37					0	0	0.008291	0	0
RXFP2	122042	broad.mit.edu	37	13	32366091	32366091	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr13:32366091G>A	ENST00000298386.2	+	15	1365	c.1294G>A	c.(1294-1296)Gga>Aga	p.G432R	RXFP2_ENST00000380314.1_Missense_Mutation_p.G408R	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	432						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TACCTGCTTTGGAAATCTTTT	0.373000													5	41					0	0	0.021553	0	0
PDK1	5163	broad.mit.edu	37	2	173451010	173451010	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:173451010G>A	ENST00000410055.1	+	9	1050	c.950G>A	c.(949-951)aGt>aAt	p.S317N	PDK1_ENST00000544863.1_Missense_Mutation_p.S162N|PDK1_ENST00000543905.1_Missense_Mutation_p.S241N|PDK1_ENST00000282077.2_Missense_Mutation_p.S317N|PDK1_ENST00000392571.2_Missense_Mutation_p.S337N	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	317	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			CCTTAGATGAGTGACCGAGGA	0.453000									Autosomal Dominant Polycystic Kidney Disease				4	41					0	0	0.009096	0	0
MYH2	4620	broad.mit.edu	37	17	10447086	10447086	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:10447086G>A	ENST00000245503.5	-	8	1067	c.683C>T	c.(682-684)cCc>cTc	p.P228L	MYH2_ENST00000532183.1_Missense_Mutation_p.P228L|MYH2_ENST00000397183.2_Missense_Mutation_p.P228L|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	228	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCCAGTAGGGGGTTGGCACT	0.522000													13	40					0	0	0.016723	0	0
SMG5	23381	broad.mit.edu	37	1	156236056	156236056	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:156236056G>A	ENST00000361813.5	-	12	1515	c.1371C>T	c.(1369-1371)tcC>tcT	p.S457S	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	457					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GGCGGAGACAGGAGAGGCGAG	0.587000													28	98					0	0	0.006320	0	0
DUSP22	56940	broad.mit.edu	37	6	348139	348139	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:348139C>T	ENST00000419235.2	+	6	378	c.300C>T	c.(298-300)atC>atT	p.I100I	DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000344450.5_Silent_p.I100I|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	100	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I100M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CACTGGTGATCGCATACATCA	0.607000													21	152					0	0	0.010504	0	0
ZBTB33	10009	broad.mit.edu	37	X	119389023	119389023	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:119389023C>T	ENST00000326624.2	+	2	1981	c.1753C>T	c.(1753-1755)Cgt>Tgt	p.R585C	ZBTB33_ENST00000557385.1_Missense_Mutation_p.R585C	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	585	Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						AAAGCTTTATCGTTTACATCC	0.378000													8	56					0	0	0.006214	0	0
HDHD2	84064	broad.mit.edu	37	18	44656625	44656625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr18:44656625G>A	ENST00000300605.6	-	4	537	c.385C>T	c.(385-387)Caa>Taa	p.Q129*	HDHD2_ENST00000587841.1_Intron	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	129							hydrolase activity			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						CGGAATGCTTGATTCAGAATT	0.348000													12	54					0	0	0.010729	0	0
PPM1E	22843	broad.mit.edu	37	17	57046946	57046946	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:57046946G>A	ENST00000308249.2	+	4	959	c.830G>A	c.(829-831)gGa>gAa	p.G277E		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	286	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GGCCATGGGGGAGTAGATGCT	0.493000													11	59					0	0	0.010729	0	0
COL4A5	1287	broad.mit.edu	37	X	107939566	107939566	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:107939566G>A	ENST00000328300.6	+	53	5278	c.5034G>A	c.(5032-5034)agG>agA	p.R1678R	COL4A5_ENST00000361603.2_Silent_p.R1672R	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1672	Collagen IV NC1.		C -> W (in APSX).|Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GAGACTTGAGGACACGAATTA	0.338000									Alport syndrome with Diffuse Leiomyomatosis				5	53					0	0	0.021553	0	0
TTN	7273	broad.mit.edu	37	2	179433796	179433796	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:179433796T>C	ENST00000589042.1	-	326	77287	c.77063A>G	c.(77062-77064)cAg>cGg	p.Q25688R	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q16623R|TTN_ENST00000342175.6_Missense_Mutation_p.Q16815R|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q16748R|TTN_ENST00000342992.6_Missense_Mutation_p.Q23120R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q24047R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24047	Ig-like 125.						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)			ATCAGCAGTCTGGGCAGGAAG	0.433000													19	91					0	0	0.006122	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47611060	47611060	+	Missense_Mutation	SNP	G	G	A	rs149644732		TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr20:47611060G>A	ENST00000371917.4	+	22	3046	c.3046G>A	c.(3046-3048)Gga>Aga	p.G1016R		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1016					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CTACCTGTCTGGATCTGGGCG	0.537000													10	41					0	0	0.008291	0	0
DNAJC14	85406	broad.mit.edu	37	12	56215836	56215836	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:56215836C>T	ENST00000546837.1	-	6	921	c.922G>A	c.(922-924)Gcc>Acc	p.A308T	DNAJC14_ENST00000317269.3_Silent_p.K678K|RP11-762I7.5_ENST00000552719.1_5'UTR|DNAJC14_ENST00000317287.5_Silent_p.K678K|DNAJC14_ENST00000357606.3_Silent_p.K678K																							TGCTGTTGGGCTTAGAGGCTG	0.547000													16	60					0	0	0.006122	0	0
MIR526B	574468	broad.mit.edu	37	19	54197692	54197692	+	RNA	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:54197692G>A	ENST00000384848.1	+	0	46					NR_030190.1																						TTGTCTGAAAGAAGAGAAAGT	0.413000													9	39					0	0	0.010729	0	0
GRIA4	2893	broad.mit.edu	37	11	105769117	105769117	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr11:105769117T>A	ENST00000393127.2	+	7	1295	c.849T>A	c.(847-849)gaT>gaA	p.D283E	GRIA4_ENST00000530497.1_Missense_Mutation_p.D283E|GRIA4_ENST00000282499.5_Missense_Mutation_p.D283E|GRIA4_ENST00000525187.1_Missense_Mutation_p.D283E|GRIA4_ENST00000393125.2_Missense_Mutation_p.D283E|GRIA4_ENST00000428631.2_Missense_Mutation_p.D283E	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	283					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AGAAACTAGATCAGAGAGAGT	0.343000													6	19					0	0	0.001984	0	0
AEBP1	165	broad.mit.edu	37	7	44151192	44151192	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:44151192C>T	ENST00000223357.3	+	15	2108	c.1803C>T	c.(1801-1803)gcC>gcT	p.A601A	AEBP1_ENST00000450684.2_Silent_p.A176A	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	601	Interaction with MAPK1 and MAPK3 (By similarity).|Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGATCTATGCCATGGAGATCT	0.617000													5	37					0	0	0.021553	0	0
VHL	7428	broad.mit.edu	37	3	10191497	10191497	+	Nonsense_Mutation	SNP	C	C	T	rs5030819		TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:10191497C>T	ENST00000256474.2	+	3	1330	c.490C>T	c.(490-492)Cag>Tag	p.Q164*	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Nonsense_Mutation_p.Q123*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	164	Interaction with Elongin BC complex.		Q -> H (in VHLD).|Q -> R (in VHLD; type II).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.Q164*(4)|p.L158fs*6(1)|p.Q164fs*10(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCGATGCCTCCAGGTTGTCCG	0.502000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				3	28					0	0	0.009096	0	0
MOG	4340	broad.mit.edu	37	6	29625034	29625034	+	Silent	SNP	C	C	T	rs111812606		TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:29625034C>T	ENST00000376894.4	+	1	166	c.48C>T	c.(46-48)ttC>ttT	p.F16F	MOG_ENST00000483013.1_Silent_p.F16F|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000533330.2_Silent_p.F16F|MOG_ENST00000494692.1_Silent_p.F16F|MOG_ENST00000376917.3_Silent_p.F16F|MOG_ENST00000490427.1_Silent_p.F16F|MOG_ENST00000376891.4_Silent_p.F16F|MOG_ENST00000376898.3_Silent_p.F16F|MOG_ENST00000376902.3_Silent_p.F16F|MOG_ENST00000431798.2_Silent_p.F16F|MOG_ENST00000416766.2_Silent_p.F16F|MOG_ENST00000396701.2_Silent_p.F16F|MOG_ENST00000396704.3_Silent_p.F16F|MOG_ENST00000376888.2_Silent_p.F16F			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	16					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TCTGCTCCTtcctcctcctcc	0.547000													4	22					0	0	0.009096	0	0
TYW1B	441250	broad.mit.edu	37	7	72193812	72193812	+	RNA	SNP	C	C	G			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:72193812C>G	ENST00000438125.1	-	0	783							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TAATCATGTTCTGATGGTTTT	0.418000													8	33					0	0	0.003080	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38673292	38673292	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:38673292A>T	ENST00000222345.6	+	16	4851	c.4342A>T	c.(4342-4344)Aag>Tag	p.K1448*		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1448					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTTCTTCTCCAAGCAGCCTGT	0.607000													15	76					0	0	0.020292	0	0
EPN3	55040	broad.mit.edu	37	17	48617661	48617661	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:48617661C>T	ENST00000268933.3	+	6	1524	c.945C>T	c.(943-945)tcC>tcT	p.S315S	EPN3_ENST00000541226.1_Intron|EPN3_ENST00000537145.1_Silent_p.S343S	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	315						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CCCCGCCCTCCACACACTGCT	0.657000													5	35					0	0	0.001984	0	0
JUP	3728	broad.mit.edu	37	17	39921203	39921203	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:39921203G>A	ENST00000393931.3	-	6	1144	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Silent_p.P342P|JUP_ENST00000310706.5_Silent_p.P342P	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	342					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCTTATTGCTGGGACACACGG	0.592000													25	80					0	0	0.024334	0	0
BRD8	10902	broad.mit.edu	37	5	137502286	137502286	+	Silent	SNP	T	T	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:137502286T>C	ENST00000254900.5	-	10	1289	c.918A>G	c.(916-918)caA>caG	p.Q306Q	BRD8_ENST00000455658.2_Silent_p.Q265Q|BRD8_ENST00000230901.5_Silent_p.Q379Q|BRD8_ENST00000402931.1_Silent_p.Q306Q|BRD8_ENST00000411594.2_Intron	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	306				Q -> H (in Ref. 6; AAB87858).	cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAATGGTAGCTTGGGACACAG	0.557000													7	28					0	0	0.004482	0	0
PENK	5179	broad.mit.edu	37	8	57354406	57354406	+	Missense_Mutation	SNP	G	G	A	rs148519224		TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:57354406G>A	ENST00000314922.3	-	2	305	c.229C>T	c.(229-231)Cct>Tct	p.P77S	PENK_ENST00000451791.2_Missense_Mutation_p.P77S|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	77					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.P77S(1)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCATCTTGAGGAAGCTCTGGT	0.483000													14	87					0	0	0.004990	0	0
TCEAL3	85012	broad.mit.edu	37	X	102864583	102864583	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:102864583C>T	ENST00000372628.1	+	3	949	c.591C>T	c.(589-591)atC>atT	p.I197I	TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Silent_p.I197I|TCEAL3_ENST00000243286.3_Silent_p.I197I			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						TACACGATATCCCATACCTTT	0.527000													7	64					0	0	0.003080	0	0
NANOG	79923	broad.mit.edu	37	12	7945552	7945552	+	Missense_Mutation	SNP	C	C	T	rs71445169		TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:7945552C>T	ENST00000229307.4	+	2	377	c.158C>T	c.(157-159)cCt>cTt	p.P53L	NANOG_ENST00000526286.1_Missense_Mutation_p.P53L	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	53					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		ACAGTCTCTCCTCTTCCTTCC	0.363000													8	75					0	0	0.004482	0	0
VPS13D	55187	broad.mit.edu	37	1	12343435	12343435	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:12343435C>T	ENST00000358136.3	+	21	5406	c.5276C>T	c.(5275-5277)cCc>cTc	p.P1759L	VPS13D_ENST00000356315.4_Missense_Mutation_p.P1759L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1759					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAGGACTATCCCTTGACCCCA	0.458000													5	35					0	0	0.014758	0	0
ATXN1	6310	broad.mit.edu	37	6	16327065	16327065	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:16327065G>A	ENST00000244769.4	-	8	2413	c.1477C>T	c.(1477-1479)Ccg>Tcg	p.P493S	ATXN1_ENST00000436367.1_Missense_Mutation_p.P493S	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	493					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			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)				CTGCCGACCGGGATGAGCAGG	0.667000													26	148					0	0	0.006320	0	0
CCNB3	85417	broad.mit.edu	37	X	50053595	50053595	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:50053595G>A	ENST00000376042.1	+	6	2724	c.2426G>A	c.(2425-2427)aGc>aAc	p.S809N	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.S809N			Q8WWL7	CCNB3_HUMAN	cyclin B3	809					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GAGGAGCCCAGCATTGAGAAG	0.547000													5	23					0	0	0.014758	0	0
LPAR1	1902	broad.mit.edu	37	9	113704021	113704021	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr9:113704021C>T	ENST00000374431.3	-	4	856	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	LPAR1_ENST00000358883.4_Missense_Mutation_p.R158Q|LPAR1_ENST00000374430.2_Missense_Mutation_p.R158Q|LPAR1_ENST00000538760.1_Missense_Mutation_p.R159Q|LPAR1_ENST00000541779.1_Missense_Mutation_p.R159Q	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	158					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GTTGCTCATCCGTGTGTGGAG	0.542000													7	45					0	0	0.001984	0	0
GPR179	440435	broad.mit.edu	37	17	36482780	36482780	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:36482780C>T	ENST00000342292.4	-	11	6692	c.6672G>A	c.(6670-6672)tgG>tgA	p.W2224*	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2224						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTGTGATTTCCCATTGGCACA	0.552000													11	65					0	0	0.008291	0	0
GRIA2	2891	broad.mit.edu	37	4	158254097	158254097	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:158254097C>T	ENST00000296526.7	+	7	1334	c.1009C>T	c.(1009-1011)Ccc>Tcc	p.P337S	GRIA2_ENST00000264426.9_Missense_Mutation_p.P337S|GRIA2_ENST00000393815.2_Missense_Mutation_p.P290S|GRIA2_ENST00000449365.1_Missense_Mutation_p.P290S|GRIA2_ENST00000507898.1_Missense_Mutation_p.P290S	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	337					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CCCAGCAGTGCCCTGGGGACA	0.458000													8	41					0	0	0.003080	0	0
SCN2A	6326	broad.mit.edu	37	2	166245390	166245390	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:166245390G>A	ENST00000375437.2	+	27	5364	c.5074G>A	c.(5074-5076)Gat>Aat	p.D1692N	SCN2A_ENST00000375427.2_Missense_Mutation_p.D1692N|SCN2A_ENST00000357398.3_Missense_Mutation_p.D1692N|SCN2A_ENST00000283256.6_Missense_Mutation_p.D1692N	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1692					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGTTGGGATCGATGACATGTT	0.448000													24	149					0	0	0.024334	0	0
MYLK2	85366	broad.mit.edu	37	20	30407947	30407947	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr20:30407947C>T	ENST00000375994.2	+	2	344	c.71C>T	c.(70-72)cCc>cTc	p.P24L	MYLK2_ENST00000375985.4_Missense_Mutation_p.P24L			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	24					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCTAAAGGTCCCACAGGTGAA	0.602000													9	35					0	0	0.004482	0	0
RBM47	54502	broad.mit.edu	37	4	40440415	40440415	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:40440415C>T	ENST00000319592.4	-	4	1205	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	RBM47_ENST00000295971.7_Missense_Mutation_p.E166K|RBM47_ENST00000381793.2_Missense_Mutation_p.E166K|RBM47_ENST00000381795.6_Missense_Mutation_p.E166K|RBM47_ENST00000514014.1_Missense_Mutation_p.E128K|RBM47_ENST00000515809.1_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	166	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TCCAGGATTTCCTCGCGCTTC	0.637000													16	45					0	0	0.028581	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173659880	173659880	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:173659880G>A	ENST00000264111.6	+	2	380	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	RAPGEF4_ENST00000409036.1_Missense_Mutation_p.E65K|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.E65K			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	65					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TGAGAATCTGGAAAAGGGAAT	0.328000													18	102					0	0	0.010504	0	0
FBXL17	64839	broad.mit.edu	37	5	107197446	107197446	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:107197446G>A	ENST00000542267.1	-	9	2487	c.2081C>T	c.(2080-2082)cCc>cTc	p.P694L	FBXL17_ENST00000359660.5_Missense_Mutation_p.P296L	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	694										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		AGACATGTTGGGGGTCCAGCC	0.582000													9	33					0	0	0.008291	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764324	77764324	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr8:77764324C>T	ENST00000521891.2	+	10	5615	c.5167C>T	c.(5167-5169)Cct>Tct	p.P1723S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1678S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1697S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1678S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1678	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1723T(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCTCATTTTCCTATGACCCC	0.473000										HNSCC(33;0.089)			4	52					0	0	0.009096	0	0
ARSF	416	broad.mit.edu	37	X	3030371	3030371	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:3030371C>T	ENST00000381127.1	+	11	1768	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F	ARSF_ENST00000537104.1_Missense_Mutation_p.S516F|ARSF_ENST00000359361.2_Missense_Mutation_p.S516F	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	516						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCCTCAGAGTCCACACCCCTG	0.547000													9	75					0	0	0.006214	0	0
PPM1E	22843	broad.mit.edu	37	17	57046945	57046945	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:57046945G>A	ENST00000308249.2	+	4	958	c.829G>A	c.(829-831)Gga>Aga	p.G277R		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	286	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			TGGCCATGGGGGAGTAGATGC	0.493000													11	58					0	0	0.010729	0	0
IL2RG	3561	broad.mit.edu	37	X	70328136	70328136	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:70328136C>T	ENST00000374202.2	-	7	1006	c.915G>A	c.(913-915)ggG>ggA	p.G305G	IL2RG_ENST00000456850.2_Silent_p.G115G|IL2RG_ENST00000374188.3_Silent_p.G34G	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	305					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	CCGAAAAGTTCCCGTGGTATT	0.537000									Severe Combined Immunodeficiency, X-linked				5	50					0	0	0.001984	0	0
KRTAP3-2	83897	broad.mit.edu	37	17	39156052	39156052	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:39156052G>A	ENST00000391587.1	-	1	86	c.54C>T	c.(52-54)acC>acT	p.T18T		NM_031959.2	NP_114165.1	Q9BYR7	KRA32_HUMAN	keratin associated protein 3-2	18	3 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				AGGAGCAGATGGTGGTGGCAG	0.572000													18	49					0	0	0.006122	0	0
OR4K17	390436	broad.mit.edu	37	14	20586336	20586336	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr14:20586336G>A	ENST00000315543.4	+	1	771	c.771G>A	c.(769-771)aaG>aaA	p.K257K		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TAACCATTAAGAACCACTCTC	0.418000													16	50					0	0	0.004990	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128629	126128629	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:126128629A>G	ENST00000299308.3	+	6	1438	c.1430A>G	c.(1429-1431)aAc>aGc	p.N477S	TMEM132B_ENST00000535886.1_5'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	477						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAGGTTTCCAACAACTGTGAT	0.448000													8	24					0	0	0.004482	0	0
SPOCD1	90853	broad.mit.edu	37	1	32265660	32265660	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:32265660G>A	ENST00000360482.2	-	5	1814	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F	SPOCD1_ENST00000373648.2_Missense_Mutation_p.S503F|SPOCD1_ENST00000533231.1_Missense_Mutation_p.S562F|SPOCD1_ENST00000257100.3_Missense_Mutation_p.S55F	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	562					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AAGGGCCAGGGAACCGCTTCT	0.632000													7	38					0	0	0.001984	0	0
HPS3	84343	broad.mit.edu	37	3	148858186	148858186	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:148858186G>A	ENST00000296051.2	+	2	753	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	205						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTCAGACTTAGAAGTCTTAAT	0.383000									Hermansky-Pudlak syndrome				13	47					0	0	0.016723	0	0
ANK3	288	broad.mit.edu	37	10	61835986	61835986	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:61835986G>A	ENST00000280772.1	-	37	4844	c.4653C>T	c.(4651-4653)tcC>tcT	p.S1551S	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1551	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CGCCTAATGTGGATTTGATTG	0.423000													24	69					0	0	0.006320	0	0
TAF4B	6875	broad.mit.edu	37	18	23873455	23873455	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr18:23873455C>T	ENST00000269142.5	+	9	2790	c.1792C>T	c.(1792-1794)Cag>Tag	p.Q598*	TAF4B_ENST00000578121.1_Nonsense_Mutation_p.Q603*|TAF4B_ENST00000400466.2_Nonsense_Mutation_p.Q598*	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	598					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ATCTCCTACTCAGAAAAATAG	0.274000													4	19					0	0	0.014758	0	0
DLD	1738	broad.mit.edu	37	7	107558469	107558469	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:107558469C>T	ENST00000205402.5	+	12	1618	c.1337C>T	c.(1336-1338)tCg>tTg	p.S446L	DLD_ENST00000440410.1_Missense_Mutation_p.S423L|DLD_ENST00000437604.2_Missense_Mutation_p.S398L|DLD_ENST00000537148.1_Missense_Mutation_p.S347L	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	446					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	GGGCAGAAATCGACAGACAGA	0.408000													11	51					0	0	0.008291	0	0
CHID1	66005	broad.mit.edu	37	11	902963	902963	+	Splice_Site	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr11:902963G>A	ENST00000449825.1	-	3	616	c.261_splice	c.e3+1	p.P87_splice	CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000336845.5_Splice_Site_p.P112_splice|CHID1_ENST00000454838.2_Splice_Site_p.P112_splice|CHID1_ENST00000323578.8_Splice_Site_p.P87_splice|CHID1_ENST00000528581.1_Splice_Site_p.P112_splice|CHID1_ENST00000436108.2_Splice_Site_p.P87_splice|CHID1_ENST00000429789.2_Splice_Site_p.P87_splice|CHID1_ENST00000323541.7_Splice_Site_p.P117_splice	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	87					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CCAACTTACTGGAGTGACATA	0.607000													5	16					0	0	0.014758	0	0
CHD4	1108	broad.mit.edu	37	12	6702357	6702357	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:6702357G>A	ENST00000309577.6	-	17	2715	c.2552C>T	c.(2551-2553)tCc>tTc	p.S851F	CHD4_ENST00000544484.1_Missense_Mutation_p.S848F|CHD4_ENST00000357008.2_Missense_Mutation_p.S851F|CHD4_ENST00000544040.1_Missense_Mutation_p.S844F			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	851	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CAATTCATAGGATGTCAGCAG	0.468000													6	51					0	0	0.001984	0	0
HLA-E	3133	broad.mit.edu	37	6	30459126	30459126	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr6:30459126G>A	ENST00000376630.4	+	4	888	c.823G>A	c.(823-825)Gag>Aag	p.E275K		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	275	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						TTCTGGAGAGGAGCAGAGATA	0.617000													11	62					0	0	0.008291	0	0
ABCA13	154664	broad.mit.edu	37	7	48427419	48427419	+	Splice_Site	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:48427419G>A	ENST00000435803.1	+	36	11360	c.11335_splice	c.e36-1	p.G3779_splice		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3779					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CATTTTTTAGGAACATTTGGT	0.299000													3	8					0	0	0.004672	0	0
HM13	81502	broad.mit.edu	37	20	30132785	30132785	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr20:30132785C>T	ENST00000335574.5	+	4	525	c.401C>T	c.(400-402)cCa>cTa	p.P134L	HM13_ENST00000398174.3_Missense_Mutation_p.P134L|HM13_ENST00000376127.3_Missense_Mutation_p.P134L|HM13_ENST00000492709.1_3'UTR|HM13_ENST00000340852.5_Missense_Mutation_p.P134L	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	134					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GCCAGCTTTCCAAATCGACAG	0.512000													8	51					0	0	0.003080	0	0
COL11A1	1301	broad.mit.edu	37	1	103471395	103471395	+	Splice_Site	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:103471395C>T	ENST00000358392.2	-	18	2197	c.1881_splice	c.e18+1	p.R627_splice	COL11A1_ENST00000370096.3_Splice_Site_p.R615_splice|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000353414.4_Splice_Site_p.R576_splice|COL11A1_ENST00000512756.1_Splice_Site_p.R499_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	615	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTATCTTACCCTGTGACCTTT	0.343000													22	72					0	0	0.018920	0	0
FRMPD3	84443	broad.mit.edu	37	X	106788996	106788996	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:106788996G>A	ENST00000276185.4	+	6	426	c.426G>A	c.(424-426)gcG>gcA	p.A142A	FRMPD3_ENST00000477796.1_3'UTR|FRMPD3-AS1_ENST00000415252.1_RNA			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	142						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TCAGTGCTGCGAAGAAGGCCA	0.478000													8	34					0	0	0.006214	0	0
FAM83D	81610	broad.mit.edu	37	20	37581058	37581058	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr20:37581058G>A	ENST00000217429.4	+	4	1784	c.1743G>A	c.(1741-1743)agG>agA	p.R581R		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	551					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TGCTGTCAAGGAGAACACTCT	0.448000													19	70					0	0	0.008871	0	0
CELA2A	63036	broad.mit.edu	37	1	15789236	15789236	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:15789236G>A	ENST00000359621.4	+	4	261	c.236G>A	c.(235-237)aGg>aAg	p.R79K		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	79	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						AGCTCCTCCAGGACCTACCGC	0.617000													18	62					0	0	0.007413	0	0
OBSCN	84033	broad.mit.edu	37	1	228452073	228452073	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:228452073C>T	ENST00000570156.2	+	18	5468	c.5394C>T	c.(5392-5394)tcC>tcT	p.S1798S	OBSCN_ENST00000284548.11_Silent_p.S1614S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.S1614S|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.S270S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	786	Fibronectin type-III 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCGGCTGTCCTTCCACCTGC	0.647000													6	20					0	0	0.021553	0	0
RPL39L	116832	broad.mit.edu	37	3	186839028	186839028	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:186839028G>A	ENST00000296277.4	-	3	463	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C	RPL39L_ENST00000433055.1_Missense_Mutation_p.R21C|RPL39L_ENST00000455270.1_Missense_Mutation_p.R21C	NM_052969.1	NP_443201.1	Q96EH5	RL39L_HUMAN	ribosomal protein L39-like	21					spermatogenesis|translation	cytosolic large ribosomal subunit	structural constituent of ribosome					all_cancers(143;2.61e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.87e-18)	GBM - Glioblastoma multiforme(93;0.0745)		GGGATGGGACGATTTTGCTTT	0.458000													7	74					0	0	0.001984	0	0
FEZF1	389549	broad.mit.edu	37	7	121943282	121943282	+	Silent	SNP	T	T	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:121943282T>C	ENST00000442488.2	-	2	952	c.885A>G	c.(883-885)aaA>aaG	p.K295K	FEZF1_ENST00000427185.2_Silent_p.K245K|FEZF1_ENST00000331178.4_Silent_p.K291K	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	295					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GCCTGAAACCTTTTCCGCACA	0.468000													4	114					0	0	0.009096	0	0
MTMR4	9110	broad.mit.edu	37	17	56581150	56581150	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:56581150G>A	ENST00000323456.5	-	15	1890	c.1766C>T	c.(1765-1767)tCc>tTc	p.S589F	MTMR4_ENST00000579925.1_Missense_Mutation_p.S532F	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	589						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCCACTGGGGAAAGGTAAAG	0.527000													25	82					0	0	0.021523	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135908014	135908014	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:135908014G>A	ENST00000264158.8	+	18	2042	c.1999G>A	c.(1999-2001)Ggg>Agg	p.G667R	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.G623R|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.G667R|ZRANB3_ENST00000412849.1_Intron	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	667						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		ATCGGCAGAGGGGGCTCACCT	0.493000													11	40					0	0	0.013537	0	0
EWSR1	2130	broad.mit.edu	37	22	29694811	29694811	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr22:29694811C>T	ENST00000397938.2	+	14	1825	c.1506C>T	c.(1504-1506)ccC>ccT	p.P502P	EWSR1_ENST00000332035.6_Silent_p.P446P|EWSR1_ENST00000332050.6_Silent_p.P429P|EWSR1_ENST00000406548.1_Silent_p.P501P|EWSR1_ENST00000331029.7_Silent_p.P464P|EWSR1_ENST00000414183.2_Silent_p.P507P	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	502	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAAGAGGACCCCGGGGTTCCC	0.602000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								13	97					0	0	0.024245	0	0
GJB2	2706	broad.mit.edu	37	13	20763697	20763697	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr13:20763697C>T	ENST00000382844.1	-	1	222	c.24G>A	c.(22-24)acG>acA	p.T8T	GJB2_ENST00000382848.4_Silent_p.T8T			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	8					cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		CCCCCAGGATCGTCTGCAGCG	0.512000									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	52					0	0	0.020292	0	0
KCNH4	23415	broad.mit.edu	37	17	40327750	40327750	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr17:40327750G>A	ENST00000264661.3	-	6	1166	c.834C>T	c.(832-834)atC>atT	p.I278I	KCNH4_ENST00000607371.1_Silent_p.I278I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	278					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGTTCAGGATGATATCTGGGG	0.562000													9	100					0	0	0.004482	0	0
ZIM3	114026	broad.mit.edu	37	19	57646858	57646858	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:57646858C>T	ENST00000269834.1	-	5	1232	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCTCACATTCATTACACTGA	0.383000													19	86					0	0	0.008871	0	0
ARR3	407	broad.mit.edu	37	X	69489979	69489979	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:69489979T>A	ENST00000374495.3	+	5	228	c.130T>A	c.(130-132)Tta>Ata	p.L44I	ARR3_ENST00000307959.8_Missense_Mutation_p.L44I			P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	44			L -> F (in dbSNP:rs17855428).		signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						TCCTGAGTACTTAAAATGTCG	0.438000													9	62					0	0	0.006214	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664277	169664277	+	RNA	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:169664277G>A	ENST00000483289.2	-	0	3017				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						TGTTGCACAGGATCTTGTTGT	0.517000													12	37					0	0	0.013537	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948129	119948129	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr4:119948129C>G	ENST00000307142.4	+	3	801	c.605C>G	c.(604-606)tCc>tGc	p.S202C	SYNPO2_ENST00000429713.2_Missense_Mutation_p.S202C|SYNPO2_ENST00000434046.2_Missense_Mutation_p.S202C|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	202						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTGCAACTGTCCCTTTCACAG	0.537000													5	22					0	0	0.014758	0	0
TPTE	7179	broad.mit.edu	37	21	10942744	10942744	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr21:10942744C>T	ENST00000298232.7	-	12	1010	c.643G>A	c.(643-645)Gat>Aat	p.D215N	TPTE_ENST00000342420.5_Missense_Mutation_p.D195N|TPTE_ENST00000361285.4_Missense_Mutation_p.D233N|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	233					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D215N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAAATCCATCCCTTGTGTAT	0.308000													20	293					0	0	0.021523	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26872468	26872468	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:26872468G>A	ENST00000531382.1	+	1	126	c.77G>A	c.(76-78)aGg>aAg	p.R26K	RPS6KA1_ENST00000526792.1_Intron|RPS6KA1_ENST00000530003.1_Intron|RPS6KA1_ENST00000374168.2_Intron|RPS6KA1_ENST00000374166.4_Intron|RPS6KA1_ENST00000374162.2_Intron	NM_001006665.1	NP_001006666.1	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	21					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CAGCGGCCCAGGATCAGCCAG	0.697000													3	6					0	0	0.004672	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54922055	54922055	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr12:54922055G>A	ENST00000293373.6	+	22	2479	c.2400G>A	c.(2398-2400)caG>caA	p.Q800Q	NCKAP1L_ENST00000545638.2_Silent_p.Q750Q	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	800					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGCTTAGACAGGCAAGCAGTG	0.532000													50	107					0	0	0.014410	0	0
FLNC	2318	broad.mit.edu	37	7	128480100	128480100	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:128480100G>C	ENST00000325888.8	+	9	1696	c.1435G>C	c.(1435-1437)Gcc>Ccc	p.A479P	FLNC_ENST00000346177.6_Missense_Mutation_p.A479P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	479					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGCCTGCCGCGCCTCTGGGCG	0.642000													28	116					0	0	0.013726	0	0
NLRP8	126205	broad.mit.edu	37	19	56473543	56473543	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:56473543C>T	ENST00000291971.3	+	4	2224	c.2153C>T	c.(2152-2154)cCt>cTt	p.P718L	NLRP8_ENST00000590542.1_Missense_Mutation_p.P718L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	718						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGGGGCCTCCTTTTTTGAAG	0.488000													14	58					0	0	0.020292	0	0
STRA6	64220	broad.mit.edu	37	15	74481525	74481525	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr15:74481525C>T	ENST00000323940.5	-	12	1266	c.1021G>A	c.(1021-1023)Gga>Aga	p.G341R	STRA6_ENST00000535552.1_Missense_Mutation_p.G378R|STRA6_ENST00000574278.1_Missense_Mutation_p.G356R|STRA6_ENST00000449139.2_Missense_Mutation_p.G341R|STRA6_ENST00000416286.3_Missense_Mutation_p.G333R|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000423167.2_Missense_Mutation_p.G332R|STRA6_ENST00000395105.4_Missense_Mutation_p.G341R|STRA6_ENST00000563965.1_Missense_Mutation_p.G380R	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	341					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						AGCACGATTCCAAAGCCGGCC	0.642000													6	16					0	0	0.021553	0	0
OR2K2	26248	broad.mit.edu	37	9	114090033	114090033	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr9:114090033G>A	ENST00000374428.1	-	1	767	c.768C>T	c.(766-768)atC>atT	p.I256I	OR2K2_ENST00000302681.1_Silent_p.I227I			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CTGCTGAGGTGATTCTCAGAA	0.448000													6	19					0	0	0.001984	0	0
ZNF560	147741	broad.mit.edu	37	19	9578257	9578257	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:9578257C>T	ENST00000301480.4	-	10	1579	c.1366G>A	c.(1366-1368)Gga>Aga	p.G456R		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GGCTTCTCTCCATTATGAACT	0.398000													33	174					0	0	0.017118	0	0
NLRP3	114548	broad.mit.edu	37	1	247588534	247588534	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:247588534A>C	ENST00000366497.2	+	4	2569	c.1789A>C	c.(1789-1791)Agt>Cgt	p.S597R	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.S597R|NLRP3_ENST00000348069.2_Missense_Mutation_p.S597R|NLRP3_ENST00000366496.2_Missense_Mutation_p.S597R|NLRP3_ENST00000391827.2_Missense_Mutation_p.S597R|NLRP3_ENST00000391828.3_Missense_Mutation_p.S597R	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	597					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAAGAAATTAAGTTGCAAGAT	0.438000													16	36					0	0	0.006122	0	0
TSGA10	80705	broad.mit.edu	37	2	99725886	99725886	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr2:99725886G>A	ENST00000393483.3	-	6	861	c.17C>T	c.(16-18)tCt>tTt	p.S6F	TSGA10_ENST00000539964.1_Missense_Mutation_p.S6F|TSGA10_ENST00000542655.1_Missense_Mutation_p.S6F|TSGA10_ENST00000355053.4_Missense_Mutation_p.S6F|TSGA10_ENST00000410001.1_Missense_Mutation_p.S6F|TSGA10_ENST00000478090.1_5'UTR	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	6					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TGGACTTTTAGACCTACTTCG	0.398000													12	41					0	0	0.016723	0	0
RAC1	5879	broad.mit.edu	37	7	6441629	6441629	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:6441629C>T	ENST00000348035.4	+	5	632	c.419C>T	c.(418-420)cCg>cTg	p.P140L	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.P159L	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	140					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	ATCACCTATCCGCAGGGTCTA	0.458000													18	93					0	0	0.014323	0	0
TBCE	6905	broad.mit.edu	37	1	235577778	235577778	+	Silent	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:235577778G>A	ENST00000543662.1	+	4	322	c.216G>A	c.(214-216)ccG>ccA	p.P72P	TBCE_ENST00000366601.3_Silent_p.P72P|TBCE_ENST00000406207.1_Silent_p.P72P|TBCE_ENST00000472011.1_3'UTR			Q15813	TBCE_HUMAN	tubulin folding cofactor E	72					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			TTATTCGTCCGAACAAGGTAA	0.383000													7	62					0	0	0.004482	0	0
TOMM40	10452	broad.mit.edu	37	19	45406309	45406309	+	Silent	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr19:45406309C>T	ENST00000426677.2	+	9	1149	c.969C>T	c.(967-969)atC>atT	p.I323I	TOMM40_ENST00000252487.5_Silent_p.I323I|TOMM40_ENST00000592434.1_3'UTR|TOMM40_ENST00000405636.2_Silent_p.I323I	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	323					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		GCAACTGGATCGTGGGTGCCA	0.587000													25	86					0	0	0.024334	0	0
HSPH1	10808	broad.mit.edu	37	13	31715323	31715323	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr13:31715323G>A	ENST00000320027.5	-	13	2134	c.1790C>T	c.(1789-1791)cCt>cTt	p.P597L	HSPH1_ENST00000445273.2_Missense_Mutation_p.P599L|HSPH1_ENST00000380405.4_Missense_Mutation_p.P553L|HSPH1_ENST00000380406.5_Missense_Mutation_p.P556L|HSPH1_ENST00000429785.2_Missense_Mutation_p.P416L	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	597					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GGCTTCAATAGGCAGCTCAAC	0.353000													12	46					0	0	0.013537	0	0
RYR3	6263	broad.mit.edu	37	15	33961554	33961554	+	Splice_Site	SNP	G	G	A			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr15:33961554G>A	ENST00000389232.4	+	37	5689		c.e37-1		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCCTCTCAAAGATCAACATGC	0.448000													9	33					0	0	0.004482	0	0
PMS2CL	441194	broad.mit.edu	37	7	6777288	6777288	+	RNA	SNP	A	A	C			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:6777288A>C	ENST00000486256.1	+	0	1415					NR_002217.1																						ATCCCCAAACACAAAAGTGTT	0.393000													8	49					0	0	0.003080	0	0
CDH6	1004	broad.mit.edu	37	5	31305281	31305281	+	Splice_Site	SNP	C	C	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr5:31305281C>T	ENST00000265071.2	+	7	1265	c.999_splice	c.e7-1	p.L334_splice	CDH6_ENST00000514738.1_Splice_Site_p.L279_splice	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	334	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAACCTCAAGCTCTTGGACTT	0.423000													19	52					0	0	0.008871	0	0
RP11-206L10.10	0	broad.mit.edu	37	1	745643	745643	+	RNA	DEL	C	C	-			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr1:745643delC	ENST00000435300.1	-	0	340																											TTCAAAGTGACAGACTGTGGG	0.299													4	3	---	---	---	---					
MUC20	200958	broad.mit.edu	37	3	195452664	195452664	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:195452664delC	ENST00000320736.6	+	3	803	c.677delC	c.(676-678)acfs	p.T226fs	MUC20_ENST00000447234.2_Frame_Shift_Del_p.T397fs|MUC20_ENST00000436408.1_Frame_Shift_Del_p.T397fs|MUC20_ENST00000445522.2_Frame_Shift_Del_p.T362fs	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	397	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CCAGTCATCACCCCCTCATGG	0.587													5	1	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2																						AAAGCATGAACTTACGGAATCT	0.401													6	10	---	---	---	---					
KMT2E	55904	broad.mit.edu	37	7	104753026	104753027	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr7:104753026_104753027insT	ENST00000334877.4	+	26	5231_5232	c.4697_4698insT	c.(4696-4698)cttfs	p.L1566fs	KMT2E_ENST00000311117.3_Frame_Shift_Ins_p.L1608fs|KMT2E_ENST00000257745.4_Frame_Shift_Ins_p.L1608fs|SRPK2_ENST00000493638.1_Intron					lysine (K)-specific methyltransferase 2E																		ACTCCAGGGCATTTTTTGCCCT	0.535													26	100	---	---	---	---					
DIP2C	22982	broad.mit.edu	37	10	415480	415482	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr10:415480_415482delCTT	ENST00000280886.6	-	18	2170_2172	c.2083_2085delAAG	c.(2083-2085)del	p.K695del	DIP2C_ENST00000540204.1_In_Frame_Del_p.K16del|DIP2C_ENST00000381496.3_In_Frame_Del_p.K588del	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	695						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCACGGACAGCTTCTCTTCCGAG	0.562													12	53	---	---	---	---					
DHRS2	10202	broad.mit.edu	37	14	24112393	24112400	+	Frame_Shift_Del	DEL	GCTGCTGA	GCTGCTGA	-			TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr14:24112393_24112400delGCTGCTGA	ENST00000250383.6	+	5	929_936	c.453_460delGCTGCTGA	c.(451-462)ctgcfs	p.LLLS151fs	DHRS2_ENST00000344777.7_Frame_Shift_Del_p.LLLS151fs	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	129				I -> V (in Ref. 3; BAD96577).	C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CCCCAGCCCTGCTGCTGAGCCAGTTGCT	0.577													22	143	---	---	---	---					
IGHV4-31	28396	broad.mit.edu	37	14	106805656	106805656	+	RNA	DEL	G	G	-	rs112628447		TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chr14:106805656delG	ENST00000438142.2	-	0	60																											TTCTTGCACAGGAGGTCCAGG	0.502													5	7	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-ER-A199-06A-11D-A197-08	TCGA-ER-A199-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e8511e8-982a-433f-90af-1d2dda8f87a9	7e2d9950-df36-49f3-a893-588120d6eb78	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			9	8	---	---	---	---					
