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
RPTOR	57521	broad.mit.edu	37	17	78704387	78704387	+	Missense_Mutation	SNP	A	A	G			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr17:78704387A>G	ENST00000306801.3	+	5	897	c.535A>G	c.(535-537)Ata>Gta	p.I179V	RPTOR_ENST00000544334.2_Missense_Mutation_p.I179V|RPTOR_ENST00000570891.1_Missense_Mutation_p.I179V|RPTOR_ENST00000537330.1_5'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	179					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCCTCTGTCCATATATGACCT	0.517000													32	43					0	0	1	0	0
MYOZ2	51778	broad.mit.edu	37	4	120057704	120057704	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr4:120057704G>C	ENST00000307128.5	+	2	237	c.24G>C	c.(22-24)atG>atC	p.M8I		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	8							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						ATACTATGATGAAGCAGAGAA	0.353000													21	21					0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17892613	17892613	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr19:17892613C>T	ENST00000594202.1	+	23	2200	c.1921C>T	c.(1921-1923)Cgt>Tgt	p.R641C	FCHO1_ENST00000389133.4_Missense_Mutation_p.R641C|FCHO1_ENST00000252771.7_Missense_Mutation_p.R641C|FCHO1_ENST00000600676.1_Missense_Mutation_p.R641C|FCHO1_ENST00000596536.1_Missense_Mutation_p.R641C|FCHO1_ENST00000597512.1_Missense_Mutation_p.R648C|FCHO1_ENST00000595033.1_Missense_Mutation_p.R591C|FCHO1_ENST00000539407.1_Missense_Mutation_p.R641C|FCHO1_ENST00000596951.1_Missense_Mutation_p.R641C	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	641										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CGCCTACTTCCGTGGCCACAG	0.637000													56	37					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	14066286	14066286	+	Silent	SNP	A	A	G			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr20:14066286A>G	ENST00000217246.4	+	3	578	c.183A>G	c.(181-183)acA>acG	p.T61T	MACROD2_ENST00000310348.4_Silent_p.T61T	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	61	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CTCAGGAAACATCCCAGGTGA	0.313000													17	23					0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158153732	158153732	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr1:158153732G>C	ENST00000368171.3	+	6	1392	c.893G>C	c.(892-894)aGc>aCc	p.S298T		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	298					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GCAGGTGGGAGCTACACCTCC	0.547000													77	102					0	0	1	0	0
C5orf38	153571	broad.mit.edu	37	5	2755256	2755256	+	Silent	SNP	C	C	A			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr5:2755256C>A	ENST00000397835.4	+	3	447	c.447C>A	c.(445-447)ccC>ccA	p.P149P	C5orf38_ENST00000334000.3_3'UTR			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	57						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		CGGGGTCTCCCCGGGGACGCG	0.736000													21	24					1.96292e-10	2.04645e-10	1	1	0
ST5	6764	broad.mit.edu	37	11	8737278	8737278	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr11:8737278G>A	ENST00000534127.1	-	9	2102	c.1717C>T	c.(1717-1719)Cac>Tac	p.H573Y	ST5_ENST00000313726.6_Missense_Mutation_p.H573Y|ST5_ENST00000526757.1_Missense_Mutation_p.H153Y|ST5_ENST00000530438.1_Missense_Mutation_p.H153Y|ST5_ENST00000530991.1_Missense_Mutation_p.H45Y|ST5_ENST00000357665.1_Missense_Mutation_p.H573Y|ST5_ENST00000526099.1_Missense_Mutation_p.H86Y	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	573					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TCATGGCTGTGCCTCTTGGGT	0.612000													43	52					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131394415	131394415	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr9:131394415C>T	ENST00000372739.3	+	53	6882	c.6772C>T	c.(6772-6774)Cag>Tag	p.Q2258*	SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.Q2258*|SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.Q2253*	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2253					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCGCAAGCACCAGGAAATCCG	0.617000													13	1					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36035978	36035978	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr5:36035978G>C	ENST00000282507.3	-	7	1495	c.1394C>G	c.(1393-1395)aCa>aGa	p.T465R	UGT3A2_ENST00000513300.1_Missense_Mutation_p.T431R|UGT3A2_ENST00000545528.1_Missense_Mutation_p.T163R	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	465						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CGCGCCCCCTGTCTGGAGGAC	0.627000													11	21					0	0	1	0	0
GOSR1	9527	broad.mit.edu	37	17	28849325	28849325	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr17:28849325C>T	ENST00000225724.5	+	9	754	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	GOSR1_ENST00000451249.2_Missense_Mutation_p.R226W|GOSR1_ENST00000467337.2_Missense_Mutation_p.R163W|GOSR1_ENST00000581721.1_Missense_Mutation_p.R214W	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	228					intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						GAGGAAGCGGCGGGACTCGCT	0.493000													5	311					0	0	1	0	0
RBM25	58517	broad.mit.edu	37	14	73543071	73543071	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr14:73543071C>A	ENST00000261973.7	+	3	436	c.151C>A	c.(151-153)Cca>Aca	p.P51T	RBM25_ENST00000527432.1_Missense_Mutation_p.P51T|RBM25_ENST00000540173.1_Missense_Mutation_p.P51T|RBM25_ENST00000526754.1_Missense_Mutation_p.P51T|RBM25_ENST00000525321.1_Missense_Mutation_p.P51T	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	51					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GGCTCCTGCTCCAACTGTAAG	0.358000													30	37					1.06801e-11	1.13766e-11	1	1	0
GNAS	2778	broad.mit.edu	37	20	57429244	57429244	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr20:57429244G>A	ENST00000306120.3	+	1	734	c.734G>A	c.(733-735)cGt>cAt	p.R245H	GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371100.4_Silent_p.P308P|GNAS_ENST00000371099.2_Silent_p.P308P|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Silent_p.P308P|GNAS_ENST00000464624.2_3'UTR			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGGACCCCCGTTCGAGATTG	0.662000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			11	44					0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43322370	43322370	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr17:43322370C>T	ENST00000331495.3	+	21	2959	c.2623C>T	c.(2623-2625)Cgc>Tgc	p.R875C	FMNL1_ENST00000328118.3_Missense_Mutation_p.R875C|FMNL1_ENST00000587489.1_Missense_Mutation_p.R453C	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	875	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GTCGACTGATCGCAAGCAGAC	0.607000													22	40					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101715892	101715892	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr10:101715892G>A	ENST00000342239.3	-	4	1430	c.1339C>T	c.(1339-1341)Ctt>Ttt	p.L447F	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Missense_Mutation_p.L447F			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	447					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCTAGGGGAAGAAGGTCGGGG	0.502000													63	73					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117700313	117700313	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr6:117700313G>C	ENST00000368508.3	-	17	2704	c.2506C>G	c.(2506-2508)Cta>Gta	p.L836V	ROS1_ENST00000368507.3_Missense_Mutation_p.L831V|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	836					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCTAAAGTTAGAGCAATTACC	0.383000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								30	9					0	0	1	0	0
STT3B	201595	broad.mit.edu	37	3	31674460	31674460	+	Missense_Mutation	SNP	A	A	G			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr3:31674460A>G	ENST00000295770.2	+	15	2430	c.2221A>G	c.(2221-2223)Aca>Gca	p.T741A		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	741					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TTTTGACCGAACACGTAATGC	0.358000													47	90					0	0	1	0	0
ACAP3	116983	broad.mit.edu	37	1	1231227	1231227	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr1:1231227G>A	ENST00000354700.5	-	18	1796	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C	ACAP3_ENST00000353662.3_Missense_Mutation_p.R490C	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	532					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						ACCCTCCAGCGTCTTGGGGCC	0.662000													32	32					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279833	46279833	+	Silent	SNP	G	G	A			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr20:46279833G>A	ENST00000372004.3	+	20	3963	c.3747G>A	c.(3745-3747)caG>caA	p.Q1249Q	NCOA3_ENST00000341724.6_Silent_p.Q1179Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547000													4	53					0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6428003	6428003	+	Silent	SNP	C	C	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr12:6428003C>T	ENST00000449001.2	+	11	1766	c.1272C>T	c.(1270-1272)ctC>ctT	p.L424L	PLEKHG6_ENST00000536531.1_Silent_p.L456L|PLEKHG6_ENST00000011684.7_Silent_p.L456L|PLEKHG6_ENST00000396988.3_Silent_p.L456L	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	456	PH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GACCCCCTCTCATGCTGGAGA	0.592000													18	25					0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17275611	17275611	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr10:17275611G>A	ENST00000544301.1	+	4	1063	c.650G>A	c.(649-651)cGt>cAt	p.R217H	VIM_ENST00000224237.5_Missense_Mutation_p.R217H|RP11-124N14.3_ENST00000456355.1_RNA	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	217	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCTCTGGCACGTCTTGACCTT	0.408000													27	40					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr9:137328351C>T	ENST00000540193.1	+	9	1912	c.989C>T	c.(988-990)tCc>tTc	p.S330F	RXRA_ENST00000481739.1_Missense_Mutation_p.S427F|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCTCTGCGCTCCATCGGGCTC	0.607000													36	5					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104171928	104171928	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr10:104171928C>T	ENST00000020673.5	-	7	2331	c.1805G>A	c.(1804-1806)gGc>gAc	p.G602D	PSD_ENST00000406432.1_Missense_Mutation_p.G602D	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	602	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CAGAGTCATGCCCGTGAAGAC	0.587000													4	168					0	0	1	0	0
ZNF511	118472	broad.mit.edu	37	10	135125399	135125399	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr10:135125399G>A	ENST00000359035.3	+	5	737	c.734G>A	c.(733-735)aGg>aAg	p.R245K	ZNF511_ENST00000463816.2_Intron|ZNF511_ENST00000361518.5_Intron|ZNF511_ENST00000368554.4_Intron			Q8NB15	ZN511_HUMAN	zinc finger protein 511	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		TCGGTGCTGAGGATTCTGGGC	0.537000													43	39					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70970513	70970513	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr15:70970513C>G	ENST00000322954.6	-	11	1109	c.924G>C	c.(922-924)gaG>gaC	p.E308D	UACA_ENST00000379983.2_Missense_Mutation_p.E295D|UACA_ENST00000539319.1_Missense_Mutation_p.E199D|UACA_ENST00000560441.1_Missense_Mutation_p.E295D	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	308						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTCTCAACCTCTCTTTCAAAT	0.303000													31	63					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1806099	1806099	+	Missense_Mutation	SNP	A	A	G	rs121913485		TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr4:1806099A>G	ENST00000340107.4	+	9	1380	c.1124A>G	c.(1123-1125)tAt>tGt	p.Y375C	FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000440486.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000481110.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000260795.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000412135.2_Intron	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	373			G -> C (in ACH).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.Y373C(395)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGCAGTGTGTATGCAGGCATC	0.682000	Y373C(KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				68	79					0	0	1	0	0
BRI3BP	140707	broad.mit.edu	37	12	125509829	125509829	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr12:125509829C>G	ENST00000341446.8	+	3	700	c.609C>G	c.(607-609)ttC>ttG	p.F203L		NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN	BRI3 binding protein	203						integral to membrane|mitochondrial outer membrane				large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		CCATGGGCTTCTACTGGCGAA	0.637000													9	69					0	0	1	0	0
ME3	10873	broad.mit.edu	37	11	86270753	86270753	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr11:86270753C>T	ENST00000543262.1	-	3	622	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Missense_Mutation_p.R99Q|ME3_ENST00000323418.6_Missense_Mutation_p.R37Q|ME3_ENST00000393324.3_Missense_Mutation_p.R99Q	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	99					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	ACTCTGCTGCCGCTCGTAATA	0.537000													34	47					0	0	1	0	0
SMARCD2	6603	broad.mit.edu	37	17	61910503	61910503	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr17:61910503C>T	ENST00000448276.2	-	12	1733	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K	SMARCD2_ENST00000323347.10_Missense_Mutation_p.E442K|SMARCD2_ENST00000225742.9_Missense_Mutation_p.E415K	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	490					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CTCTCCTCCTCAGGATTTCCA	0.562000													6	11					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961614	51961614	+	Silent	SNP	G	G	A			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr19:51961614G>A	ENST00000321424.3	-	1	94	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	SIGLEC8_ENST00000430817.1_Silent_p.L10L|SIGLEC8_ENST00000340550.5_Silent_p.L10L	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	10					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCCCAGagcaggggcagcagc	0.597000													29	44					0	0	1	0	0
LRRC4	64101	broad.mit.edu	37	7	127670541	127670541	+	Silent	SNP	C	C	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr7:127670541C>T	ENST00000249363.3	-	2	410	c.153G>A	c.(151-153)tcG>tcA	p.S51S	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	51	LRRNT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGTTACTGCACGAGCAGACGG	0.642000													51	54					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	11994229	11994229	+	Missense_Mutation	SNP	T	T	C			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr10:11994229T>C	ENST00000356352.2	-	14	3343	c.2870A>G	c.(2869-2871)aAa>aGa	p.K957R	UPF2_ENST00000357604.5_Missense_Mutation_p.K957R|UPF2_ENST00000397053.2_Missense_Mutation_p.K957R			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	957	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CTCCAAACTTTTCTTCCACCA	0.289000													26	24					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12434122	12434122	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr3:12434122C>T	ENST00000397026.2	+	6	807	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	PPARG_ENST00000539812.1_Missense_Mutation_p.R134W|PPARG_ENST00000287820.6_Missense_Mutation_p.R164W|PPARG_ENST00000397010.2_Missense_Mutation_p.R136W|PPARG_ENST00000397000.1_Missense_Mutation_p.R136W|PPARG_ENST00000309576.6_Missense_Mutation_p.R136W|PPARG_ENST00000397012.2_Missense_Mutation_p.R136W|PPARG_ENST00000397015.2_Missense_Mutation_p.R136W			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	164					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	GGGTTTCTTCCGGAGAACAAT	0.388000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						26	47					0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167510380	167510380	+	Silent	SNP	C	C	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr3:167510380C>T	ENST00000295777.5	+	4	915	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	SERPINI1_ENST00000446050.2_Silent_p.L162L	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	162					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						CTAAATAGATCTGGTGAAAGA	0.398000													37	30					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56382202	56382202	+	Missense_Mutation	SNP	C	C	A			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr19:56382202C>A	ENST00000301295.6	+	7	2786	c.2364C>A	c.(2362-2364)ttC>ttA	p.F788L	NLRP4_ENST00000346986.5_Missense_Mutation_p.F732L|NLRP4_ENST00000587891.1_Missense_Mutation_p.F713L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	788							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GGTTGGCTTTCTGCCACCTCA	0.483000													13	48					0.0135373	0.0135373	1	1	0
AFF4	27125	broad.mit.edu	37	5	132228794	132228794	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr5:132228794C>T	ENST00000265343.5	-	12	2703	c.2324G>A	c.(2323-2325)cGa>cAa	p.R775Q	AFF4_ENST00000378595.3_Missense_Mutation_p.R775Q	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	775					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCACTGGCTCGGTTATCATC	0.433000													69	101					0	0	1	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125269212	125269212	+	RNA	SNP	G	G	A			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr6:125269212G>A	ENST00000439075.1	-	0	249					NR_026876.1																						ATTCATTGTTGAGTTGTAATT	0.353000													19	1					0	0	1	0	0
DEFB116	245930	broad.mit.edu	37	20	29891074	29891074	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr20:29891074C>T	ENST00000400549.1	-	2	249	c.250G>A	c.(250-252)Gat>Aat	p.D84N		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	84					defense response to bacterium	extracellular region				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GAGTCGTAATCCTCCTTCACA	0.383000													75	93					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28541249	28541249	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr6:28541249G>T	ENST00000452236.2	-	4	3034	c.2417C>A	c.(2416-2418)cCa>cAa	p.P806Q		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	806					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						cacctgctttggttggctttt	0.343000													30	113					1.06801e-11	1.13766e-11	1	1	0
TTN	7273	broad.mit.edu	37	2	179569382	179569382	+	Missense_Mutation	SNP	T	T	A			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr2:179569382T>A	ENST00000589042.1	-	105	30041	c.29817A>T	c.(29815-29817)gaA>gaT	p.E9939D	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E8695D|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E9622D|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9622	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTCCAGTTTTTCAGTTCCTT	0.338000													21	4					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33201664	33201664	+	Missense_Mutation	SNP	A	A	G			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr14:33201664A>G	ENST00000280979.4	+	10	3175	c.3005A>G	c.(3004-3006)tAc>tGc	p.Y1002C	AKAP6_ENST00000557354.1_Missense_Mutation_p.Y1002C|AKAP6_ENST00000557272.1_Missense_Mutation_p.Y1002C	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1002					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TTTTAGCGATACAGTGTGGAA	0.378000													33	42					0	0	1	0	0
LSM14A	26065	broad.mit.edu	37	19	34710342	34710342	+	Silent	SNP	G	G	A			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr19:34710342G>A	ENST00000544216.3	+	7	905	c.828G>A	c.(826-828)cgG>cgA	p.R276R	LSM14A_ENST00000433627.5_Silent_p.R276R|LSM14A_ENST00000540746.2_Silent_p.R235R	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	276					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					GGGGTCATCGGGGTGGCAGGG	0.433000													51	67					0	0	1	0	0
AP5Z1	9907	broad.mit.edu	37	7	4830793	4830793	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr7:4830793C>T	ENST00000348624.4	+	17	2295	c.2201C>T	c.(2200-2202)gCc>gTc	p.A734V	AP5Z1_ENST00000490487.1_3'UTR	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	734					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										CACAGTCCAGCCACCAGCTCC	0.627000													10	14					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27419798	27419798	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr6:27419798G>C	ENST00000211936.6	-	6	1824	c.1540C>G	c.(1540-1542)Ctc>Gtc	p.L514V	ZNF184_ENST00000377419.1_Missense_Mutation_p.L514V	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGGTTTGAGAGATAACTGAAA	0.393000													34	44					0	0	1	0	0
ZNF227	7770	broad.mit.edu	37	19	44739730	44739730	+	Missense_Mutation	SNP	G	G	A	rs145842330		TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr19:44739730G>A	ENST00000313040.7	+	6	1352	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	ZNF227_ENST00000391961.2_Missense_Mutation_p.E332K|ZNF227_ENST00000589005.1_Missense_Mutation_p.E332K	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				ATACAAATGCGAAGAGTGTGG	0.448000													26	34					0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73569237	73569237	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr17:73569237C>G	ENST00000392550.3	+	20	2720	c.2603C>G	c.(2602-2604)aCc>aGc	p.T868S	LLGL2_ENST00000577200.1_Missense_Mutation_p.T868S|LLGL2_ENST00000167462.5_Missense_Mutation_p.T868S	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	868					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCAGTCCTTACCAACCTGGGC	0.682000													32	25					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154941021	154941021	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr1:154941021G>C	ENST00000448116.2	-	4	920	c.700C>G	c.(700-702)Ctc>Gtc	p.L234V	SHC1_ENST00000606391.1_Missense_Mutation_p.L35V|SHC1_ENST00000368450.1_Missense_Mutation_p.L124V|SHC1_ENST00000368445.5_Missense_Mutation_p.L234V|SHC1_ENST00000368453.4_Missense_Mutation_p.L124V|SHC1_ENST00000368449.4_Missense_Mutation_p.L5V	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	234	PID.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	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)			GAGACGGTGAGAGTGATTGGC	0.577000													81	104					0	0	1	0	0
ASPHD1	253982	broad.mit.edu	37	16	29916255	29916255	+	Silent	SNP	C	C	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr16:29916255C>T	ENST00000308748.5	+	2	1284	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D	ASPHD1_ENST00000483405.1_Silent_p.D63D	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	344					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						TACTGGTGGACGACTCTTTTC	0.592000													19	19					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641424	99641424	+	Silent	SNP	C	C	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr14:99641424C>T	ENST00000345514.2	-	3	1802	c.1536G>A	c.(1534-1536)gcG>gcA	p.A512A	BCL11B_ENST00000357195.3_Silent_p.A583A|BCL11B_ENST00000443726.2_Silent_p.A389A	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	583						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCGCCTTggccgcgccgcccc	0.731000			T	TLX3	T-ALL								17	28					0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122618514	122618514	+	Missense_Mutation	SNP	A	A	C			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr12:122618514A>C	ENST00000319080.7	+	9	1844	c.1712A>C	c.(1711-1713)aAg>aCg	p.K571T	MLXIP_ENST00000538698.1_Missense_Mutation_p.K178T|MLXIP_ENST00000377037.2_Missense_Mutation_p.K161T			Q9HAP2	MLXIP_HUMAN	MLX interacting protein						regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TTGGTGTTGAAGAATGCCCGT	0.587000													8	32					0	0	1	0	0
CRIP1	1396	broad.mit.edu	37	14	105954727	105954727	+	Splice_Site	SNP	T	T	C			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr14:105954727T>C	ENST00000330233.7	+	3	1136		c.e3+2		CRIP1_ENST00000551180.1_Splice_Site|CRIP1_ENST00000409393.2_Splice_Site|CRIP1_ENST00000392531.3_Splice_Site			P50238	CRIP1_HUMAN	cysteine-rich protein 1 (intestinal)						cell proliferation	cytoplasm	zinc ion binding						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		GGCCTAAAGGTATGCTCCCGT	0.632000													6	14					0	0	1	0	0
TMEM165	55858	broad.mit.edu	37	4	56284102	56284102	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr4:56284102G>C	ENST00000381334.5	+	4	975	c.742G>C	c.(742-744)Gaa>Caa	p.E248Q	TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000542052.1_Missense_Mutation_p.E185Q|TMEM165_ENST00000506198.1_Intron	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	248						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			ATTCTTAGCAGAATGGGGTGA	0.358000													44	62					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152560831	152560831	+	Missense_Mutation	SNP	T	T	C			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr6:152560831T>C	ENST00000367255.5	-	108	20505	c.19904A>G	c.(19903-19905)cAg>cGg	p.Q6635R	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6564R|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6564R|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q1159R|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q6247R|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q6635R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6635					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCCAGGCCCTGAAAGTATTC	0.418000										HNSCC(10;0.0054)			49	49					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27419812	27419812	+	Missense_Mutation	SNP	T	T	G			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr6:27419812T>G	ENST00000211936.6	-	6	1810	c.1526A>C	c.(1525-1527)aAg>aCg	p.K509T	ZNF184_ENST00000377419.1_Missense_Mutation_p.K509T	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ACTGAAAGCCTTTCCACATTC	0.398000													39	42					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17076064	17076064	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr17:17076064G>T	ENST00000395811.5	+	17	2453	c.2364G>T	c.(2362-2364)gaG>gaT	p.E788D	MPRIP_ENST00000444976.1_Missense_Mutation_p.E750D|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395804.3_Missense_Mutation_p.E788D|MPRIP_ENST00000341712.4_Missense_Mutation_p.E788D	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	788	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GGGAGCTGGAGAAGAGCCAGC	0.647000													48	53					4.01344e-20	4.41929e-20	1	1	0
SLC22A2	6582	broad.mit.edu	37	6	160679778	160679778	+	Silent	SNP	G	G	A			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr6:160679778G>A	ENST00000366953.3	-	1	270	c.12C>T	c.(10-12)acC>acT	p.T4T	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Intron	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	4					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CATCGTCCACGGTGGTGGGCA	0.622000													21	19					0	0	1	0	0
TCEB3	6924	broad.mit.edu	37	1	24078328	24078328	+	Silent	SNP	C	C	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr1:24078328C>T	ENST00000418390.2	+	4	1582	c.1311C>T	c.(1309-1311)ctC>ctT	p.L437L	TCEB3_ENST00000609199.1_Silent_p.L411L	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	437					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AATCCTACCTCAGCTATGACC	0.428000											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	85	128					0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	123988900	123988900	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr11:123988900G>A	ENST00000456829.2	+	5	502	c.251G>A	c.(250-252)cGc>cAc	p.R84H	VWA5A_ENST00000360334.4_Missense_Mutation_p.R84H|VWA5A_ENST00000361352.5_Missense_Mutation_p.R84H|VWA5A_ENST00000392744.4_Missense_Mutation_p.R100H|VWA5A_ENST00000449321.1_Missense_Mutation_p.R84H|VWA5A_ENST00000392748.1_Missense_Mutation_p.R84H	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	84	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TCTCAGGCCCGCACCAACTAT	0.552000													4	36					0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52899097	52899097	+	Silent	SNP	A	A	G			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr14:52899097A>G	ENST00000281741.4	-	21	2774	c.2403T>C	c.(2401-2403)aaT>aaC	p.N801N		NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	801					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AATTACTTCTATTCCAATGCT	0.343000													32	48					0	0	1	0	0
WDR36	134430	broad.mit.edu	37	5	110432806	110432806	+	Missense_Mutation	SNP	A	A	G			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr5:110432806A>G	ENST00000506538.2	+	3	961	c.388A>G	c.(388-390)Atg>Gtg	p.M130V	WDR36_ENST00000505303.1_Missense_Mutation_p.M74V|WDR36_ENST00000513710.2_Missense_Mutation_p.M130V	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	130					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TATCTGCTGTATGGCAGCTGA	0.363000													29	52					0	0	1	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764244	140764244	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr5:140764244C>T	ENST00000518325.1	+	1	1778	c.1778C>T	c.(1777-1779)gCg>gTg	p.A593V	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGTGGTGGCGGTGGACAAA	0.637000													60	116					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195398271	195398271	+	RNA	SNP	A	A	G	rs142433257	by1000genomes	TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr3:195398271A>G	ENST00000445430.1	+	0	1088																											GTGTGCAGGCACATGTGCACA	0.542000													7	25					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34112956	34112956	+	Splice_Site	SNP	G	G	C			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr15:34112956G>C	ENST00000389232.4	+	78	10828		c.e78-1		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)		ATGAAATCCAGAGTTGTCAAA	0.413000													4	6					0	0	1	0	0
PUSL1	126789	broad.mit.edu	37	1	1245097	1245097	+	Silent	SNP	G	G	A			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr1:1245097G>A	ENST00000379031.5	+	5	587	c.510G>A	c.(508-510)caG>caA	p.Q170Q	PUSL1_ENST00000470520.1_3'UTR	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	170					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			lung(3)|skin(1)|urinary_tract(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AAGCCGCCCAGCACCTCCTCG	0.716000													5	10					0	0	1	0	0
VSIG4	11326	broad.mit.edu	37	X	65253602	65253602	+	Silent	SNP	G	G	A			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chrX:65253602G>A	ENST00000455586.2	-	2	252	c.126C>T	c.(124-126)acC>acT	p.T42T	VSIG4_ENST00000374737.4_Silent_p.T42T|VSIG4_ENST00000412866.2_Silent_p.T42T	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	42	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGGGTCATAGGTGCAGGGAA	0.542000													35	3					0	0	1	0	0
WDR37	22884	broad.mit.edu	37	10	1170267	1170267	+	Missense_Mutation	SNP	A	A	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr10:1170267A>T	ENST00000358220.1	+	12	1357	c.1213A>T	c.(1213-1215)Att>Ttt	p.I405F	WDR37_ENST00000263150.4_Missense_Mutation_p.I405F|WDR37_ENST00000482165.1_3'UTR			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	405								p.I405V(1)		breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CATTGCAACTATTCGCACGGA	0.443000													42	66					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72205110	72205110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr4:72205110C>T	ENST00000340595.3	+	1	341	c.145C>T	c.(145-147)Cga>Tga	p.R49*	SLC4A4_ENST00000512686.1_Nonsense_Mutation_p.R49*|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Nonsense_Mutation_p.R93*|SLC4A4_ENST00000351898.6_Nonsense_Mutation_p.R93*|SLC4A4_ENST00000425175.1_Nonsense_Mutation_p.R93*	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	93				T -> A (in Ref. 6; BAH58226).		basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AGAACGCATCCGATTCATCTT	0.557000													67	113					0	0	1	0	0
H3F3A	3020	broad.mit.edu	37	1	226252098	226252098	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr1:226252098G>T	ENST00000366814.3	+	2	167	c.46G>T	c.(46-48)Gca>Tca	p.A16S	H3F3A_ENST00000366815.3_Missense_Mutation_p.A16S|H3F3A_ENST00000366816.1_Missense_Mutation_p.A16S|H3F3A_ENST00000366813.1_Missense_Mutation_p.A16S					H3 histone, family 3A											central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		CGGTGGTAAAGCACCCAGGAA	0.478000			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	18					7.07596e-05	7.22338e-05	1	1	0
TPPP2	122664	broad.mit.edu	37	14	21498771	21498771	+	Missense_Mutation	SNP	C	C	T	rs139355625	by1000genomes	TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr14:21498771C>T	ENST00000321760.6	+	2	179	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000460647.2_Missense_Mutation_p.R11W|TPPP2_ENST00000530140.2_Missense_Mutation_p.R11W	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	11						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AACATTCCATCGGTTTGCTGC	0.527000													10	6					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	32483335	32483335	+	Missense_Mutation	SNP	C	C	G			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr17:32483335C>G	ENST00000359872.6	-	1	978	c.217G>C	c.(217-219)Gtc>Ctc	p.V73L		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	73					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	ACCTTAGTGACATGCTGGTAG	0.587000													3	45					0	0	1	0	0
MIR1302-3	100302128	broad.mit.edu	37	2	114340612	114340612	+	RNA	SNP	G	G	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr2:114340612G>T	ENST00000408128.1	-	0	61					NR_031632.1																						actaagcttgggaaatattta	0.333000													21	160					2.12542e-12	2.31434e-12	1	1	0
KBTBD4	55709	broad.mit.edu	37	11	47595284	47595284	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr11:47595284G>A	ENST00000533290.1	-	3	1544	c.830C>T	c.(829-831)tCg>tTg	p.S277L	KBTBD4_ENST00000430070.2_Missense_Mutation_p.S268L|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000526005.1_Missense_Mutation_p.S252L|KBTBD4_ENST00000395288.2_Missense_Mutation_p.S252L			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	252										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						CACAGCCAACGAGTGGGTACG	0.448000													36	52					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17699029	17699029	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr17:17699029G>T	ENST00000353383.1	+	3	3236	c.2767G>T	c.(2767-2769)Gag>Tag	p.E923*	RAI1_ENST00000261641.6_Nonsense_Mutation_p.E923*	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	923						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCTCTCAGGGGAGTCCGTCAT	0.637000													20	19					2.4624e-09	2.54016e-09	1	1	0
NPHP3	27031	broad.mit.edu	37	3	132418268	132418268	+	Silent	SNP	C	C	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr3:132418268C>T	ENST00000326682.8	-	13	1990	c.1914G>A	c.(1912-1914)ctG>ctA	p.L638L	NPHP3_ENST00000337331.5_Silent_p.L638L			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	638					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGGATCTATCAGCCATTTCA	0.333000													28	25					0	0	1	0	0
KPNB1	3837	broad.mit.edu	37	17	45735916	45735916	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr17:45735916G>A	ENST00000290158.4	+	5	933	c.526G>A	c.(526-528)Gcc>Acc	p.A176T	KPNB1_ENST00000537679.1_Missense_Mutation_p.A31T|KPNB1_ENST00000540627.1_Missense_Mutation_p.A31T|KPNB1_ENST00000577918.1_3'UTR|KPNB1_ENST00000535458.2_Missense_Mutation_p.A31T	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	176					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						GATTCTGACTGCCATAATCCA	0.453000													28	40					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43401045	43401045	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr6:43401045C>T	ENST00000244533.3	+	1	1557	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	ABCC10_ENST00000443426.2_3'UTR|ABCC10_ENST00000372530.4_Missense_Mutation_p.R443C	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	443	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GATTGCCACCCGCATCATGGC	0.587000													21	23					0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91855911	91855911	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr7:91855911G>A	ENST00000394507.1	-	12	1858	c.1075C>T	c.(1075-1077)Ctt>Ttt	p.L359F	KRIT1_ENST00000412043.2_Missense_Mutation_p.L359F|KRIT1_ENST00000394505.2_Missense_Mutation_p.L359F|KRIT1_ENST00000394503.2_Missense_Mutation_p.L311F|KRIT1_ENST00000340022.2_Missense_Mutation_p.L359F	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	359					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCAAAATGAAGAGGAGAACTA	0.368000													40	56					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212295752	212295752	+	Missense_Mutation	SNP	G	G	C			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr2:212295752G>C	ENST00000342788.4	-	21	2871	c.2561C>G	c.(2560-2562)cCa>cGa	p.P854R	ERBB4_ENST00000402597.1_Missense_Mutation_p.P844R|ERBB4_ENST00000436443.1_Missense_Mutation_p.P854R	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	854	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CACATGGTTTGGAGATTTCAC	0.413000										TSP Lung(8;0.080)			39	15					0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94770789	94770789	+	Missense_Mutation	SNP	A	A	G			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr8:94770789A>G	ENST00000453321.3	+	3	449	c.391A>G	c.(391-393)Att>Gtt	p.I131V	TMEM67_ENST00000409623.3_Missense_Mutation_p.H5R	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	131					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TCACTGTCCCATTGGCCATAT	0.318000													32	37					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215835	140215835	+	Missense_Mutation	SNP	C	C	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr5:140215835C>T	ENST00000525929.1	+	1	1867	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R623C|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCCGTTCCGCGTGGGGCT	0.627000													49	59					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179579277	179579277	+	Missense_Mutation	SNP	G	G	A			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr2:179579277G>A	ENST00000589042.1	-	91	26448	c.26224C>T	c.(26224-26226)Ctc>Ttc	p.L8742F	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L7498F|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.L8425F|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8425	Ig-like 70.						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)			ATGTCACTGAGCTTCTTCACA	0.443000													12	2					0	0	1	0	0
HIF1A	3091	broad.mit.edu	37	14	62193502	62193502	+	Missense_Mutation	SNP	G	G	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr14:62193502G>T	ENST00000394997.1	+	5	804	c.539G>T	c.(538-540)gGa>gTa	p.G180V	HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000557206.1_3'UTR|HIF1A_ENST00000337138.4_Missense_Mutation_p.G179V|HIF1A_ENST00000557538.1_Missense_Mutation_p.G120V|HIF1A_ENST00000323441.6_Missense_Mutation_p.G179V|HIF1A_ENST00000539097.1_Missense_Mutation_p.G203V			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	179	Interaction with TSGA10 (By similarity).				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		ACTAGCCGAGGAAGAACTATG	0.328000													19	26					2.35188e-11	2.47833e-11	1	1	0
DNAH3	55567	broad.mit.edu	37	16	21073926	21073926	+	Silent	SNP	C	C	T			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr16:21073926C>T	ENST00000261383.3	-	25	3596	c.3597G>A	c.(3595-3597)ttG>ttA	p.L1199L	DNAH3_ENST00000415178.1_Silent_p.L1199L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1199	Stem (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)		AGCACTTCTTCAAGTGCGGCT	0.428000													47	48					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96525717	96525718	+	Frame_Shift_Ins	INS	-	-	T	rs77057279	by1000genomes	TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr2:96525717_96525718insT	ENST00000456556.1	-	61	3871_3872	c.3787_3788insA	c.(3787-3789)ctgfs	p.L1263fs	ANKRD36C_ENST00000420871.2_Frame_Shift_Ins_p.L514fs|ANKRD36C_ENST00000419039.2_Frame_Shift_Ins_p.L290fs					ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						CTTATTTTTCAGTTTTCGAATT	0.282													2	4	---	---	---	---					
CDKN1A	1026	broad.mit.edu	37	6	36651924	36651924	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr6:36651924delA	ENST00000405375.1	+	2	281	c.46delA	c.(46-48)aagfs	p.K16fs	CDKN1A_ENST00000373711.2_Frame_Shift_Del_p.K16fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Frame_Shift_Del_p.K50fs|CDKN1A_ENST00000244741.5_Frame_Shift_Del_p.K16fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	16					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	p.S15fs*15(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						ATGCGGCAGCAAGGCCTGCCG	0.647													10	18	---	---	---	---					
CDKN1A	1026	broad.mit.edu	37	6	36651944	36651945	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr6:36651944_36651945insG	ENST00000405375.1	+	2	301_302	c.66_67insG	c.(67-69)ggcfs	p.G23fs	CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.G23fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.G57fs|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.G23fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	23	Required for binding cyclins.				cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GCCGCCTCTTCGGCCCAGTGGA	0.639													21	20	---	---	---	---					
PCLO	27445	broad.mit.edu	37	7	82582944	82582944	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr7:82582944delT	ENST00000333891.9	-	5	7662	c.7325delA	c.(7324-7326)aagfs	p.K2442fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.K2442fs	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AACTGTTAACTTTTTTTTAGG	0.498													5	8	---	---	---	---					
IQSEC3	440073	broad.mit.edu	37	12	248320	248321	+	In_Frame_Ins	INS	-	-	AGC			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr12:248320_248321insAGC	ENST00000538872.1	+	4	1909_1910	c.1791_1792insAGC	c.(1792-1794)agc>AGCagc	p.598_598S>SS	IQSEC3_ENST00000382841.2_In_Frame_Ins_p.295_295S>SS|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_In_Frame_Ins_p.598_598S>SS			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	598	Poly-Ser.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGGAGCAGCTGAGCAGCAGCAG	0.688													5	4	---	---	---	---					
CCDC63	160762	broad.mit.edu	37	12	111311658	111311659	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr12:111311658_111311659insA	ENST00000308208.5	+	5	624_625	c.382_383insA	c.(382-384)gaafs	p.E128fs	CCDC63_ENST00000552694.1_Frame_Shift_Ins_p.E49fs|CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000545036.1_Frame_Shift_Ins_p.E88fs	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	128										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TCTTCAGATGGAAAAAAAAATC	0.416													7	204	---	---	---	---					
SETD1B	23067	broad.mit.edu	37	12	122255538	122255540	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr12:122255538_122255540delGGA	ENST00000267197.5	+	9	3168_3170	c.3162_3164delGGA	c.(3160-3165)gcggag>gcg	p.E1061del	SETD1B_ENST00000542440.1_In_Frame_Del_p.E1061del|SETD1B_ENST00000604567.1_In_Frame_Del_p.E1087del	NM_015048.1	NP_055863.1	Q9UPS6	SET1B_HUMAN	SET domain containing 1B	1061	Glu-rich.|Pro-rich.				histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(6)|kidney(2)|prostate(2)	11						aagaggaggcggaggaggaggag	0.631													2	4	---	---	---	---					
LINC01076	0	broad.mit.edu	37	13	25780691	25780691	+	RNA	DEL	A	A	-			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr13:25780691delA	ENST00000435725.2	-	0	195																											TTTACACCAGaaaaaaaaatt	0.388													2	4	---	---	---	---					
P2RX6	9127	broad.mit.edu	37	22	21380108	21380108	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	g.chr22:21380108delG	ENST00000413302.2	+	9	1053	c.905delG	c.(904-906)tggfs	p.W303fs	P2RX6_ENST00000401443.1_Frame_Shift_Del_p.W277fs|P2RX6_ENST00000443995.3_Frame_Shift_Del_p.W250fs|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000336296.2_Frame_Shift_Del_p.W293fs			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	303					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										GCCACTCACTGGTGGGAGCAA	0.632													2	4	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-2F-A9KQ-01A-11D-A38G-08	TCGA-2F-A9KQ-11A-11D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca900907-6e1a-4cc4-8ca3-ccd4162db542	63c7cf8e-21e3-4f37-9a51-de1351872560	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)			4	5	---	---	---	---