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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample							
PRDM2	7799	broad.mit.edu	37	1	14107286	14107286	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:14107286C>A	uc001avi.2	+	8	3852	c.2996C>A	c.(2995-2997)TCT>TAT	p.S999Y	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.S999Y|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.S798Y|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	999	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CCAGCCCCCTCTTCCAGTGCA	0.607		NaN											1	0	5.34484e-38	0.01441	6.14407e-38	94	67									
UBR4	23352	broad.mit.edu	37	1	19475090	19475090	+	Missense_Mutation	SNP	T	T	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:19475090T>A	uc001bbi.2	-	50	7465	c.7461A>T	c.(7459-7461)GAA>GAT	p.E2487D	UBR4_uc001bbk.1_Missense_Mutation_p.E141D	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2487					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAAAGCAGCTTTCCAGGGCTT	0.512		NaN											0	0	0	0.01441	0	134	119									
CSMD2	114784	broad.mit.edu	37	1	34076828	34076828	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:34076828G>C	uc001bxn.1	-	41	6065	c.6036C>G	c.(6034-6036)AAC>AAG	p.N2012K	CSMD2_uc001bxm.1_Missense_Mutation_p.N2052K|CSMD2_uc001bxo.1_Missense_Mutation_p.N925K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2012	CUB 12.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGGTGGAGAAGTTCAGGAACT	0.547		NaN											0	0	0	0.004007	0	15	30									
RIMS3	9783	broad.mit.edu	37	1	41101622	41101622	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:41101622C>T	uc001cfu.1	-	4	794	c.325G>A	c.(325-327)GAT>AAT	p.D109N	RIMS3_uc001cfv.1_Missense_Mutation_p.D109N	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	109					neurotransmitter transport	cell junction|synapse					0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			GTGCTCCCATCGGTGGACTCC	0.682		NaN											0	0	0	0.01441	0	81	44									
GLIS1	148979	broad.mit.edu	37	1	53986418	53986418	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:53986418C>T	uc001cvr.1	-	6	1657	c.1090G>A	c.(1090-1092)GAG>AAG	p.E364K		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	364					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			skin(1)	1						ACGTCGGCCTCGGTGTCAGGG	0.662		NaN											0	0	0	0.001855	0	13	21									
TGFBR3	7049	broad.mit.edu	37	1	92185658	92185658	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:92185658G>A	uc001doh.2	-	9	1671	c.1205C>T	c.(1204-1206)CCG>CTG	p.P402L	TGFBR3_uc009wde.2_Missense_Mutation_p.P179L|TGFBR3_uc010osy.1_Missense_Mutation_p.P360L|TGFBR3_uc001doi.2_Missense_Mutation_p.P401L|TGFBR3_uc001doj.2_Missense_Mutation_p.P401L	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	402	Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GAAAGGAAACGGAAGGCCTCC	0.572		NaN											0	0	0	0.01441	0	67	56									
FLG	2312	broad.mit.edu	37	1	152279046	152279046	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:152279046G>T	uc001ezu.1	-	3	8352	c.8316C>A	c.(8314-8316)GAC>GAA	p.D2772E		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2772	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGGAGCTGTCTTGTGCCT	0.597		NaN							Ichthyosis				1	0	5.87652e-79	0.01441	6.81899e-79	168	560									
SLC39A1	27173	broad.mit.edu	37	1	153932939	153932939	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:153932939G>A	uc001fdh.2	-	4	779	c.610C>T	c.(610-612)CGG>TGG	p.R204W	CRTC2_uc010ped.1_5'Flank|SLC39A1_uc001fdi.2_Missense_Mutation_p.R204W|SLC39A1_uc001fdj.2_Missense_Mutation_p.R204W|SLC39A1_uc001fdk.2_Missense_Mutation_p.R204W|SLC39A1_uc010pee.1_Missense_Mutation_p.R102W|SLC39A1_uc001fdl.2_Missense_Mutation_p.R204W	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter),	204	Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		GCCCGAGCCCGGTCTCGCTGC	0.662		NaN											0	0	0	0.007835	0	41	35									
RXRG	6258	broad.mit.edu	37	1	165370612	165370612	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:165370612C>T	uc001gda.2	-	10	1580	c.1280G>A	c.(1279-1281)CGT>CAT	p.R427H		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	427	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GCCAATGGAACGCAGAGCTGG	0.602		NaN											0	0	0	0.00632	0	23	94									
DNM3	26052	broad.mit.edu	37	1	172017754	172017754	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:172017754C>T	uc001gie.2	+	10	1375	c.1199C>T	c.(1198-1200)ACA>ATA	p.T400I	DNM3_uc001gid.3_Missense_Mutation_p.T400I|DNM3_uc009wwb.2_Missense_Mutation_p.T400I|DNM3_uc001gif.2_Missense_Mutation_p.T400I	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	400					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1						ACCTTCAGGACAGGGTTGTTT	0.333		NaN											0	0	0	0.000602	0	5	25									
TNR	7143	broad.mit.edu	37	1	175355398	175355398	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:175355398G>A	uc001gkp.1	-	6	1628	c.1547C>T	c.(1546-1548)TCG>TTG	p.S516L	TNR_uc009wwu.1_Missense_Mutation_p.S516L	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	516	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					CACAGTGTCCGAGACATCGCG	0.512		NaN											0	0	0	0.00245	0	12	57									
KIF21B	23046	broad.mit.edu	37	1	200968596	200968596	+	Splice_Site	SNP	T	T	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:200968596T>C	uc001gvs.1	-	13	2085	c.1768_splice	c.e13-1	p.E590_splice	KIF21B_uc001gvr.1_Splice_Site_p.E590_splice|KIF21B_uc009wzl.1_Splice_Site_p.E590_splice|KIF21B_uc010ppn.1_Splice_Site_p.E590_splice	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						TTCCTCCTCCTGGGCACCAGG	0.632		NaN											0	0	0	0.01441	0	95	35									
ACBD3	64746	broad.mit.edu	37	1	226340215	226340215	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:226340215C>T	uc001hpy.2	-	7	1243	c.1196G>A	c.(1195-1197)CGA>CAA	p.R399Q		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	acyl-Coenzyme A binding domain containing 3	399	GOLD.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding				0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CACTTCTCCTCGGCCCACTGT	0.463		NaN											0	0	0	0.01441	0	135	225									
ACBD3	64746	broad.mit.edu	37	1	226340229	226340229	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr1:226340229C>T	uc001hpy.2	-	7	1229	c.1182G>A	c.(1180-1182)GTG>GTA	p.V394V		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	acyl-Coenzyme A binding domain containing 3	394	GOLD.			KEKIQQDADSVITV -> QREDSAGCRFRDYS (in Ref. 2).	steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding				0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CCACTGTAATCACGGAATCTG	0.453		NaN											0	0	0	0.01441	0	141	249									
PHRF1	57661	broad.mit.edu	37	11	607297	607297	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:607297G>A	uc001lqe.2	+	14	1972	c.1841G>A	c.(1840-1842)CGG>CAG	p.R614Q	PHRF1_uc010qwc.1_Missense_Mutation_p.R613Q|PHRF1_uc010qwd.1_Missense_Mutation_p.R612Q|PHRF1_uc010qwe.1_Missense_Mutation_p.R610Q|PHRF1_uc009ybz.1_Missense_Mutation_p.R404Q|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	614							RNA polymerase binding|zinc ion binding				0						GTTCAGGCTCGGAACTTGTCA	0.667		NaN											0	0	0	0.01441	0	44	137									
PLCB3	5331	broad.mit.edu	37	11	64035013	64035013	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:64035013G>A	uc001nzb.2	+	31	3690	c.3690G>A	c.(3688-3690)GAG>GAA	p.E1230E	PLCB3_uc009ypg.1_Silent_p.E1230E|PLCB3_uc009yph.1_Silent_p.E1163E|PLCB3_uc009ypi.2_Silent_p.E1230E|GPR137_uc009ypj.1_5'Flank	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	1230					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						GCCAGGAGGAGAACACGCAGC	0.652		NaN											0	0	0	0.004482	0	8	3									
PYGM	5837	broad.mit.edu	37	11	64525784	64525784	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:64525784G>A	uc001oax.3	-	4	1279	c.462C>T	c.(460-462)GCC>GCT	p.A154A	PYGM_uc001oay.3_Intron	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	154					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	AGCCATAGGCGGCCAGGCCCA	0.602		NaN											0	0	0	0.01441	0	122	42									
ANKRD49	54851	broad.mit.edu	37	11	94231644	94231644	+	Silent	SNP	T	T	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:94231644T>C	uc001pew.2	+	3	805	c.666T>C	c.(664-666)TAT>TAC	p.Y222Y	ANKRD49_uc001pex.2_3'UTR|ANKRD49_uc001pey.2_RNA	NM_017704	NP_060174	Q8WVL7	ANR49_HUMAN	fetal globin inducing factor	222					positive regulation of transcription, DNA-dependent					central_nervous_system(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAAGTATCTATCACTACCTCT	0.398		NaN											0	0	0	0.011902	0	41	64									
PPP2R1B	5519	broad.mit.edu	37	11	111614171	111614171	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:111614171C>T	uc001plx.1	-	12	1567	c.1483G>A	c.(1483-1485)GTT>ATT	p.V495I	PPP2R1B_uc001plw.1_Missense_Mutation_p.V495I|PPP2R1B_uc010rwi.1_Missense_Mutation_p.V431I|PPP2R1B_uc010rwj.1_Missense_Mutation_p.V334I|PPP2R1B_uc010rwk.1_Missense_Mutation_p.V450I|PPP2R1B_uc010rwl.1_Missense_Mutation_p.V368I	NM_002716	NP_002707	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	495	HEAT 13.						protein binding				0		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		ACTTTGGGAACAATAGTATTT	0.383		NaN											0	0	0	0.00245	0	13	168									
TECTA	7007	broad.mit.edu	37	11	121039497	121039497	+	Silent	SNP	G	G	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr11:121039497G>C	uc010rzo.1	+	19	5862	c.5862G>C	c.(5860-5862)ACG>ACC	p.T1954T		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1954	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TAGTGTTGACGACTCGAGATG	0.483		NaN											0	0	0	0.00333	0	25	63									
A2ML1	144568	broad.mit.edu	37	12	9006743	9006743	+	Silent	SNP	T	T	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr12:9006743T>A	uc001quz.3	+	21	2708	c.2610T>A	c.(2608-2610)ATT>ATA	p.I870I	A2ML1_uc001qva.1_Silent_p.I450I|A2ML1_uc010sgm.1_Silent_p.I370I	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	714						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						ACTTTACTATTAGTACAAAGA	0.458		NaN											0	0	0	0.013537	0	13	39									
KRT74	121391	broad.mit.edu	37	12	52962081	52962081	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr12:52962081G>A	uc001sap.1	-	7	1275	c.1227C>T	c.(1225-1227)GGC>GGT	p.G409G		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	keratin 6 irs4	409	Rod.|Coil 2.					keratin filament	structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.191)		GGTGCAGGGCGCCCTCCAGCT	0.652		NaN											0	0	0	0.00874	0	35	113									
HSP90B1	7184	broad.mit.edu	37	12	104326676	104326676	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr12:104326676G>A	uc001tkb.1	+	4	472	c.367G>A	c.(367-369)GAA>AAA	p.E123K	HSP90B1_uc010swg.1_Intron|HSP90B1_uc009zui.1_Missense_Mutation_p.E123K|LOC253724_uc010swf.1_5'Flank|LOC253724_uc009zuh.2_5'Flank	NM_003299	NP_003290	P14625	ENPL_HUMAN	heat shock protein 90kDa beta, member 1	123					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			ovary(2)|skin(1)	3					Rifabutin(DB00615)	ACTGACTGATGAAAATGCTCT	0.343		NaN											0	0	0	0.01441	0	87	110									
RCBTB1	55213	broad.mit.edu	37	13	50129739	50129739	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr13:50129739C>T	uc001vde.1	-	6	776	c.515G>A	c.(514-516)CGA>CAA	p.R172Q		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and	172	RCC1 3.				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(1)	1		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		TGTAACTTTTCGAGGAGTTGG	0.443		NaN											0	0	0	0.004007	0	16	35									
SNW1	22938	broad.mit.edu	37	14	78184464	78184464	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr14:78184464G>A	uc001xuf.2	-	14	1605	c.1578C>T	c.(1576-1578)CAC>CAT	p.H526H	SNW1_uc010tvm.1_Silent_p.H451H|SNW1_uc010asu.2_Silent_p.H364H|SNW1_uc010tvn.1_Missense_Mutation_p.T553M	NM_012245	NP_036377	Q13573	SNW1_HUMAN	SKI-interacting protein	526					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTTCATGCTCGTGTTCCTTGG	0.468		NaN											0	0	0	0.01441	0	100	182									
ATP2A1	487	broad.mit.edu	37	16	28913653	28913653	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr16:28913653C>T	uc002dro.1	+	17	2654	c.2470C>T	c.(2470-2472)CCC>TCC	p.P824S	uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.P824S|ATP2A1_uc002drp.1_Missense_Mutation_p.P699S	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	824	Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CCCCCGGAGCCCCAAGGAGCC	0.647		NaN											0	0	0	0.01441	0	51	631									
RPGRIP1L	23322	broad.mit.edu	37	16	53679568	53679568	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr16:53679568C>T	uc002ehp.2	-	17	2716	c.2652G>A	c.(2650-2652)CTG>CTA	p.L884L	RPGRIP1L_uc002eho.3_Silent_p.L884L|RPGRIP1L_uc010vgy.1_Silent_p.L884L|RPGRIP1L_uc010cbx.2_Silent_p.L884L|RPGRIP1L_uc010vgz.1_Silent_p.L884L	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	884					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				CCAACGAAATCAGAGGCACAT	0.333		NaN											0	0	0	0.012213	0	34	70									
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr17:7577568C>A	uc002gim.2	-	7	907	c.713G>T	c.(712-714)TGT>TTT	p.C238F	TP53_uc002gig.1_Missense_Mutation_p.C238F|TP53_uc002gih.2_Missense_Mutation_p.C238F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C106F|TP53_uc010cng.1_Missense_Mutation_p.C106F|TP53_uc002gii.1_Missense_Mutation_p.C106F|TP53_uc010cnh.1_Missense_Mutation_p.C238F|TP53_uc010cni.1_Missense_Mutation_p.C238F|TP53_uc002gij.2_Missense_Mutation_p.C238F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C145F|TP53_uc002gio.2_Missense_Mutation_p.C106F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	238	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C238Y(47)|p.C238F(34)|p.C238S(18)|p.C238R(14)|p.0?(7)|p.C238*(4)|p.C238W(2)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.C238fs*9(1)|p.M237_N239delMCN(1)|p.C238fs*21(1)|p.C238del(1)|p.C238G(1)|p.C238C(1)|p.M237fs*1(1)|p.C145F(1)|p.H233fs*6(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.M237_C238insX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGAACTGTTACACATGTAGTT	0.572		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			1	0	1.77791e-30	0.01441	2.02485e-30	60	8									
TP53I13	90313	broad.mit.edu	37	17	27899299	27899299	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr17:27899299C>G	uc002hee.2	+	6	691	c.653C>G	c.(652-654)TCA>TGA	p.S218*		NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	218	Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane					0				READ - Rectum adenocarcinoma(3;0.236)		CCCACTCGCTCAGCCCTGAGG	0.637		NaN											0	0	0	0.01441	0	55	13									
CASKIN2	57513	broad.mit.edu	37	17	73498739	73498739	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr17:73498739G>A	uc002joc.2	-	18	2966	c.2416C>T	c.(2416-2418)CCC>TCC	p.P806S	CASKIN2_uc010wsc.1_Missense_Mutation_p.P724S	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	806	Pro-rich.					cytoplasm				pancreas(1)	1	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;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCTCTGTGGGGCCAGGGCGG	0.701		NaN											0	0	0	0.009096	0	4	44									
CCDC57	284001	broad.mit.edu	37	17	80059594	80059594	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr17:80059594C>G	uc002kdx.1	-	17	2749	c.2712G>C	c.(2710-2712)AGG>AGC	p.R904S		NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	905										ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TCTTGGGGGGCCTCTGGCAGC	0.612		NaN											0	0	0	0.01441	0	210	45									
SETBP1	26040	broad.mit.edu	37	18	42530725	42530725	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr18:42530725G>A	uc010dni.2	+	4	1716	c.1420G>A	c.(1420-1422)GAG>AAG	p.E474K		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	474						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GATAGAGAATGAGTCCCCCTC	0.483		NaN							Schinzel-Giedion_syndrome				0	0	0	0.01441	0	66	27									
HDGFRP2	84717	broad.mit.edu	37	19	4499523	4499523	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:4499523G>A	uc002mao.2	+	14	1704	c.1611G>A	c.(1609-1611)GAG>GAA	p.E537E	HDGFRP2_uc002map.2_Silent_p.E537E|HDGFRP2_uc010dtz.1_RNA|HDGFRP2_uc010dua.2_Silent_p.E2E|HDGFRP2_uc002maq.1_Silent_p.E2E	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	hepatoma-derived growth factor-related protein 2	537	Potential.				transcription, DNA-dependent	nucleus	DNA binding|protein binding				0						ACGTAATGGAGAAGGCAGCAG	0.463		NaN											0	0	0	0.004482	0	9	47									
PRR22	163154	broad.mit.edu	37	19	5783026	5783026	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:5783026G>A	uc002mdb.1	-	1	1585	c.1226C>T	c.(1225-1227)CCG>CTG	p.P409L	PRR22_uc010xiv.1_Missense_Mutation_p.P411L	NM_153359	NP_699190	Q8IZ63	PRR22_HUMAN	proline rich 22 isoform 2	409											0						CCTGGGCCCCGGGGGAGTGGC	0.667		NaN											0	0	0	0.004482	0	6	11									
C19orf39	126074	broad.mit.edu	37	19	11486191	11486191	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:11486191G>A	uc002mrg.1	+	2	226	c.189G>A	c.(187-189)AAG>AAA	p.K63K		NM_175871	NP_787067	Q6NVH7	CS039_HUMAN	hypothetical protein LOC126074	63											0						CCTTCTAGAAGATCCGCTTCC	0.582		NaN											0	0	0	0.01441	0	99	308									
ANO8	57719	broad.mit.edu	37	19	17440975	17440975	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:17440975G>T	uc002ngf.2	-	10	1391	c.1232C>A	c.(1231-1233)GCC>GAC	p.A411D	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	411	Helical; (Potential).|Leu-rich.					chloride channel complex	chloride channel activity			ovary(3)	3						GTAGCCCTCGGCACTCACACT	0.627		NaN											1	0	4.7796e-09	0.004656	5.1121e-09	26	78									
ZNF461	92283	broad.mit.edu	37	19	37147421	37147421	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:37147421A>G	uc002oem.2	-	4	389	c.161T>C	c.(160-162)GTA>GCA	p.V54A	ZNF461_uc002oen.2_Missense_Mutation_p.V23A|ZNF461_uc010xtj.1_Missense_Mutation_p.V54A	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	gonadotropin inducible transcription repressor	54	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGAGGAGATTACGGCTGGCTT	0.433		NaN											0	0	0	0.004672	0	3	67									
ZNF567	163081	broad.mit.edu	37	19	37210842	37210842	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:37210842G>T	uc010xtl.1	+	6	1438	c.1216G>T	c.(1216-1218)GCA>TCA	p.A406S	ZNF567_uc002oeo.1_Missense_Mutation_p.A406S|ZNF567_uc010xtk.1_Missense_Mutation_p.A406S|ZNF567_uc002oep.3_Missense_Mutation_p.A375S|ZNF567_uc002oeq.1_Missense_Mutation_p.A375S	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	zinc finger protein 567	406	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCACCAGAAGGCAAATCTTAC	0.433		NaN											1	0	2.48551e-13	0.00499	2.68173e-13	17	56									
SULT2B1	6820	broad.mit.edu	37	19	49055556	49055556	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:49055556A>T	uc002pjl.2	+	1	128	c.47A>T	c.(46-48)TAT>TTT	p.Y16F		NM_177973	NP_814444	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	16				Missing: Increases the cholesterol sulfotransferase activity.|Missing: Loss of the cholesterol sulfotransferase activity.	3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			skin(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		TGGGACACCTATGAAGATGAC	0.672		NaN											0	0	0	0.010504	0	18	34									
KLK5	25818	broad.mit.edu	37	19	51453127	51453127	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:51453127C>T	uc002pue.2	-	4	537	c.319G>A	c.(319-321)GCC>ACC	p.A107T	KLK5_uc002puf.2_Missense_Mutation_p.A107T|KLK5_uc002pug.2_Missense_Mutation_p.A107T	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	107	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		CTGCAGTGGGCGGCCGTGAGC	0.512		NaN											0	0	0	0.010771	0	40	11									
SAPS1	22870	broad.mit.edu	37	19	55758320	55758320	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr19:55758320G>A	uc002qjw.3	-	2	394	c.152C>T	c.(151-153)CCA>CTA	p.P51L	SAPS1_uc002qjv.2_Missense_Mutation_p.P113L	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	SAPS domain family, member 1	51	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding				0		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CAGGTGGGGTGGCTGCAGCAG	0.657		NaN											0	0	0	0.010504	0	19	30									
MYT1L	23040	broad.mit.edu	37	2	1983502	1983502	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr2:1983502C>T	uc002qxe.2	-	6	875	c.48G>A	c.(46-48)GGG>GGA	p.G16G	MYT1L_uc002qxd.2_Silent_p.G16G|MYT1L_uc002qxf.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	16					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TACCTCGAACCCCTTTGGACC	0.597		NaN											0	0	0	0.006214	0	9	65									
CTNNA2	1496	broad.mit.edu	37	2	79971689	79971689	+	Silent	SNP	A	A	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr2:79971689A>T	uc010ysh.1	+	2	284	c.279A>T	c.(277-279)GTA>GTT	p.V93V	CTNNA2_uc010yse.1_Silent_p.V93V|CTNNA2_uc010ysf.1_Silent_p.V93V|CTNNA2_uc010ysg.1_Silent_p.V93V	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	93					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						TGGCTGCTGTAGAGGATGTGC	0.428		NaN											0	0	0	0.012319	0	22	16									
SCN9A	6335	broad.mit.edu	37	2	167162315	167162315	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr2:167162315C>T	uc010fpl.2	-	5	924	c.583G>A	c.(583-585)GTC>ATC	p.V195I	SCN9A_uc002udr.1_Missense_Mutation_p.V66I|SCN9A_uc002uds.1_Missense_Mutation_p.V66I|SCN9A_uc002udt.1_Missense_Mutation_p.V66I	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	195	Helical; Name=S3 of repeat I; (Potential).|I.					voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V195I(1)		ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	AAAACAATGACGACAAAATCC	0.398		NaN											0	0	0	0.00632	0	27	69									
DNAH7	56171	broad.mit.edu	37	2	196865506	196865506	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr2:196865506G>A	uc002utj.3	-	12	1376	c.1275C>T	c.(1273-1275)ATC>ATT	p.I425I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	425	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						CATTTAGAAAGATATCTATAT	0.343		NaN											0	0	0	0.01441	0	158	150									
IKZF2	22807	broad.mit.edu	37	2	213872344	213872344	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr2:213872344C>A	uc002vem.2	-	8	1490	c.1321G>T	c.(1321-1323)GTC>TTC	p.V441F	IKZF2_uc010fuu.2_Missense_Mutation_p.V296F|IKZF2_uc002vej.2_Missense_Mutation_p.V388F|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.V367F|IKZF2_uc002vel.2_Missense_Mutation_p.V362F|IKZF2_uc010fuw.2_Missense_Mutation_p.V215F|IKZF2_uc010fux.2_Missense_Mutation_p.V215F|IKZF2_uc010fuy.2_Missense_Mutation_p.V369F|IKZF2_uc002ven.2_Missense_Mutation_p.V415F|IKZF2_uc002vei.2_Missense_Mutation_p.V219F	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	helios isoform 1	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AAAGCTTTGACATCCTCCTTC	0.483		NaN											1	0	1.12685e-05	0.004482	1.18464e-05	9	63									
IFNGR2	3460	broad.mit.edu	37	21	34805103	34805103	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr21:34805103C>A	uc002yrp.3	+	6	1452	c.804C>A	c.(802-804)TTC>TTA	p.F268L	IFNGR2_uc002yrq.3_Missense_Mutation_p.F287L|IFNGR2_uc010gma.2_Missense_Mutation_p.F189L|IFNGR2_uc002yrr.3_Missense_Mutation_p.F189L|TMEM50B_uc002yrs.1_RNA	NM_005534	NP_005525	P38484	INGR2_HUMAN	interferon gamma receptor 2 precursor	268	Helical; (Potential).				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity				0					Interferon gamma-1b(DB00033)	CCTGTTTCTTCCTGGTCCTGA	0.468		NaN											1	0	1.62957e-23	0.00874	1.82216e-23	45	85									
SLC19A1	6573	broad.mit.edu	37	21	46951334	46951334	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr21:46951334G>A	uc002zhl.1	-	3	1037	c.918C>T	c.(916-918)AAC>AAT	p.N306N	SLC19A1_uc010gpy.1_Silent_p.N306N|SLC19A1_uc011aft.1_Silent_p.N266N|SLC19A1_uc002zhm.1_Silent_p.N306N|SLC19A1_uc010gpz.1_Silent_p.N185N	NM_194255	NP_919231	P41440	S19A1_HUMAN	solute carrier family 19 member 1	306	Extracellular (Probable).				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity				0				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CTGCCGCGCCGTTGTAGACCC	0.662		NaN											0	0	0	0.004878	0	34	103									
C22orf24	25775	broad.mit.edu	37	22	32334024	32334024	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr22:32334024A>G	uc003aly.2	-	2	196	c.29T>C	c.(28-30)CTG>CCG	p.L10P	C22orf24_uc003alx.2_RNA	NM_015372	NP_056187	Q9Y442	CV024_HUMAN	hypothetical protein LOC25775	10						integral to membrane				central_nervous_system(1)	1						CTTTTGATGCAGCCCTGTTGT	0.378		NaN											0	0	0	0.01441	0	124	348									
TST	7263	broad.mit.edu	37	22	37414345	37414345	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr22:37414345G>A	uc003aqg.2	-	1	1129	c.429C>T	c.(427-429)TCC>TCT	p.S143S	TST_uc003aqh.2_Silent_p.S143S|MPST_uc003aqi.1_5'Flank|MPST_uc003aqj.2_5'Flank|MPST_uc003aqm.2_5'Flank|MPST_uc011amu.1_5'Flank|MPST_uc003aql.2_5'Flank	NM_003312	NP_003303	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase	143	Rhodanese 1.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity				0						GTGAGGGCTCGGATGTCACCG	0.607		NaN											0	0	0	0.00278	0	25	71									
HRH1	3269	broad.mit.edu	37	3	11301151	11301151	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:11301151G>A	uc010hdr.2	+	2	770	c.428G>A	c.(427-429)CGA>CAA	p.R143Q	HRH1_uc010hds.2_Missense_Mutation_p.R143Q|HRH1_uc010hdt.2_Missense_Mutation_p.R143Q|HRH1_uc003bwb.3_Missense_Mutation_p.R143Q	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	143	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			large_intestine(1)|ovary(1)	2					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	ACCAAGACCCGAGCCTCGGCC	0.552		NaN											0	0	0	0.01441	0	51	187									
PRKCD	5580	broad.mit.edu	37	3	53213624	53213624	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:53213624G>A	uc003dgl.2	+	4	500	c.147G>A	c.(145-147)CCG>CCA	p.P49P	PRKCD_uc003dgm.2_Silent_p.P49P|PRKCD_uc003dgn.2_Silent_p.P49P	NM_006254	NP_006245	Q05655	KPCD_HUMAN	protein kinase C, delta	49	C2.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		AGAAGAAGCCGACCATGTATC	0.592		NaN											0	0	0	0.010504	0	20	43									
ATXN7	6314	broad.mit.edu	37	3	63985136	63985136	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:63985136G>A	uc003dlw.3	+	13	3225	c.2672G>A	c.(2671-2673)CGT>CAT	p.R891H	ATXN7_uc010hnv.2_Silent_p.T913T|ATXN7_uc011bfn.1_Missense_Mutation_p.R746H	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	891				PKARP -> VGNGL (in Ref. 2; AAC39765/ AAC19163).	cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CCAAAGGCACGTCCCTGACAG	0.448		NaN											0	0	0	0.00499	0	16	26									
CD200	4345	broad.mit.edu	37	3	112054803	112054803	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:112054803C>A	uc003dyw.2	+	2	170	c.26C>A	c.(25-27)ACA>AAA	p.T9K	CD200_uc010hqd.1_Intron|CD200_uc003dyx.2_Intron|CD200_uc003dyy.2_Intron|CD200_uc003dyz.2_Intron	NM_001004196	NP_001004196	P41217	OX2G_HUMAN	CD200 antigen isoform b	Error:Variant_position_missing_in_P41217_after_alignment					regulation of immune response	integral to plasma membrane					0		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				CTGACCAGGACAATTGGGGGC	0.274		NaN											1	0	8.58068e-18	0.007291	9.42343e-18	27	116									
C3orf30	152405	broad.mit.edu	37	3	118865565	118865565	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:118865565C>G	uc003ecb.1	+	1	569	c.529C>G	c.(529-531)CAG>GAG	p.Q177E	IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.Q177E	NM_152539	NP_689752	Q96M34	CC030_HUMAN	hypothetical protein LOC152405	177										ovary(2)	2				GBM - Glioblastoma multiforme(114;0.222)		AGGTTCCAGACAGACCGACCA	0.527		NaN											0	0	0	0.01441	0	38	79									
SI	6476	broad.mit.edu	37	3	164786928	164786928	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:164786928G>C	uc003fei.2	-	4	373	c.311C>G	c.(310-312)CCT>CGT	p.P104R		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	104	Lumenal.|P-type 1.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GAAGCACCAAGGAATAAGAGA	0.343		NaN								HNSCC(35;0.089)			0	0	0	0.012213	0	34	71									
EIF4A2	1974	broad.mit.edu	37	3	186501413	186501413	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:186501413C>T	uc003fqs.2	+	1	53	c.14C>T	c.(13-15)TCC>TTC	p.S5F	EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.S5F|EIF4A2_uc003fqv.2_5'UTR|EIF4A2_uc003fqw.2_5'UTR|SNORD2_uc010hyu.1_5'Flank|EIF4A2_uc011bsb.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	5					interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			ovary(2)|breast(2)	4	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TCTGGTGGCTCCGCGGATTAT	0.562		NaN	T	BCL6	NHL								0	0	0	0.01441	0	81	184									
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:195505836G>C	uc011bto.1	-	3	12691	c.12231C>G	c.(12229-12231)CAC>CAG	p.H4077Q	MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597		NaN											0	0	0	0.008291	0	9	7									
MUC4	4585	broad.mit.edu	37	3	195511815	195511815	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr3:195511815G>A	uc011bto.1	-	2	7096	c.6636C>T	c.(6634-6636)ACC>ACT	p.T2212T	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGGGCTGGTGACAGGAA	0.602		NaN											0	0	0	0.004672	0	3	5									
RGS12	6002	broad.mit.edu	37	4	3425321	3425321	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr4:3425321G>A	uc003ggw.2	+	13	4091	c.3187G>A	c.(3187-3189)GTG>ATG	p.V1063M	RGS12_uc003ggv.2_Missense_Mutation_p.V1063M|RGS12_uc003ggy.1_Missense_Mutation_p.V461M|RGS12_uc003ggz.2_Missense_Mutation_p.V415M|RGS12_uc010icu.1_Missense_Mutation_p.V262M|RGS12_uc011bvs.1_Missense_Mutation_p.V405M|RGS12_uc003gha.2_Missense_Mutation_p.V405M|RGS12_uc010icv.2_Missense_Mutation_p.V262M|RGS12_uc003ghb.2_Missense_Mutation_p.V262M	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1063	RBD 2.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCTGCGGCCCGTGGTGGCCAG	0.632		NaN											0	0	0	0.004289	0	35	93									
TMPRSS11F	389208	broad.mit.edu	37	4	68964665	68964665	+	Silent	SNP	A	A	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr4:68964665A>G	uc003hdt.1	-	2	152	c.103T>C	c.(103-105)TTA>CTA	p.L35L		NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	35	Helical; Signal-anchor for type II membrane protein; (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						ACAATTGCTAATGTGAAAAGA	0.388		NaN											0	0	0	0.004672	0	3	14									
FRAS1	80144	broad.mit.edu	37	4	79429990	79429990	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr4:79429990C>T	uc003hlb.2	+	63	10050	c.9610C>T	c.(9610-9612)CCT>TCT	p.P3204S	FRAS1_uc003hlc.1_Missense_Mutation_p.P206S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3199	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						CCCCTGCGACCCTCATTTCCC	0.567		NaN											0	0	0	0.008291	0	11	15									
RG9MTD2	93587	broad.mit.edu	37	4	100479211	100479211	+	Silent	SNP	A	A	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr4:100479211A>G	uc003huy.2	-	3	656	c.343T>C	c.(343-345)TTA>CTA	p.L115L	RG9MTD2_uc003huz.3_Silent_p.L115L|RG9MTD2_uc003hva.3_Silent_p.L115L	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	RNA (guanine-9-) methyltransferase domain	115							methyltransferase activity			ovary(2)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		GATACCTTTAATACCATCAAG	0.328		NaN											0	0	0	0.001855	0	10	18									
UGT8	7368	broad.mit.edu	37	4	115597250	115597250	+	Missense_Mutation	SNP	G	G	T	rs77695673		TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr4:115597250G>T	uc003ibs.2	+	6	1954	c.1432G>T	c.(1432-1434)GCC>TCC	p.A478S	UGT8_uc003ibt.2_Missense_Mutation_p.A478S|UGT8_uc011cge.1_RNA	NM_001128174	NP_001121646	Q16880	CGT_HUMAN	UDP-galactose-ceramide galactosyltransferase 8	478	Helical; (Potential).				central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			ovary(1)|skin(1)	2		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		ACTGGATATTGCCTTTGTGCT	0.373		NaN											1	0	7.34454e-26	0.01441	8.28788e-26	50	83									
SRD5A1	6715	broad.mit.edu	37	5	6633926	6633926	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr5:6633926C>T	uc003jdw.2	+	1	427	c.237C>T	c.(235-237)CTC>CTT	p.L79L	NSUN2_uc003jdu.2_5'Flank|NSUN2_uc011cmk.1_5'Flank|NSUN2_uc003jdv.2_5'Flank|SRD5A1_uc011cml.1_RNA|SRD5A1_uc011cmm.1_Missense_Mutation_p.S88F	NM_001047	NP_001038	P18405	S5A1_HUMAN	steroid-5-alpha-reductase 1	79					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity				0					Dutasteride(DB01126)|Finasteride(DB01216)	CCCCGCGTCTCCGCAGCGCGC	0.736		NaN											0	0	0	0.006122	0	16	157									
MARVELD2	153562	broad.mit.edu	37	5	68737477	68737477	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr5:68737477C>G	uc003jwq.2	+	7	1732	c.1673C>G	c.(1672-1674)TCT>TGT	p.S558C	MARVELD2_uc010ixf.2_Missense_Mutation_p.S546C|MARVELD2_uc003jwr.1_Intron|MARVELD2_uc003jws.1_RNA	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2 isoform 1	558	Cytoplasmic (Potential).				sensory perception of sound	integral to membrane|tight junction					0		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CAAGGTTATTCTTAACGCTTA	0.179		NaN											0	0	0	0.004656	0	24	34									
PDGFRB	5159	broad.mit.edu	37	5	149515232	149515232	+	Missense_Mutation	SNP	C	C	T	rs80162387	by1000genomes	TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr5:149515232C>T	uc003lro.2	-	3	719	c.250G>A	c.(250-252)GTG>ATG	p.V84M	PDGFRB_uc010jhd.2_Translation_Start_Site|PDGFRB_uc011dcg.1_Missense_Mutation_p.V84M	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	84	Extracellular (Potential).|Ig-like C2-type 1.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGTGTGAGCACGCTGGAGAAG	0.597		NaN	T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								0	0	0	0.004482	0	8	102									
FAM136B	387071	broad.mit.edu	37	6	3045879	3045879	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:3045879G>A	uc011dhr.1	+	1	262	c.262G>A	c.(262-264)GAC>AAC	p.D88N		NM_001012983	NP_001013001			hypothetical protein LOC387071												0	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GCATTGCAATGACAAAGCCAA	0.547		NaN											0	0	0	0.009718	0	41	106									
KIF13A	63971	broad.mit.edu	37	6	17777555	17777555	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:17777555T>C	uc003ncg.3	-	34	4228	c.4123A>G	c.(4123-4125)AAA>GAA	p.K1375E	KIF13A_uc003ncf.2_Missense_Mutation_p.K1362E|KIF13A_uc003nch.3_Missense_Mutation_p.K1375E|KIF13A_uc003nci.3_Missense_Mutation_p.K1362E|KIF13A_uc003nce.1_5'UTR	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1375					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGCCGGGCTTTGGTGGAAAGT	0.368		NaN											0	0	0	0.010729	0	10	33									
CUL9	23113	broad.mit.edu	37	6	43156294	43156294	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:43156294G>A	uc003ouk.2	+	8	2096	c.2021G>A	c.(2020-2022)CGC>CAC	p.R674H	CUL9_uc003ouj.1_3'UTR|CUL9_uc003oul.2_Missense_Mutation_p.R674H|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_3'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	674					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						CCCGGTCCTCGCAGCTCCCTG	0.542		NaN											0	0	0	0.01441	0	53	43									
HSP90AB1	3326	broad.mit.edu	37	6	44216418	44216418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:44216418C>T	uc003oxa.1	+	2	136	c.52C>T	c.(52-54)CAG>TAG	p.Q18*	HSP90AB1_uc011dvr.1_Nonsense_Mutation_p.Q18*|HSP90AB1_uc003oxb.1_Nonsense_Mutation_p.Q18*|HSP90AB1_uc011dvs.1_5'UTR|HSP90AB1_uc003oxc.1_5'Flank	NM_007355	NP_031381	P08238	HS90B_HUMAN	heat shock 90kDa protein 1, beta	18					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	p.Q18*(1)		lung(3)|breast(1)	4	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTTTGCCTTTCAGGCAGAAAT	0.423		NaN											0	0	0	0.01441	0	91	209									
ME1	4199	broad.mit.edu	37	6	83963391	83963391	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:83963391G>T	uc003pjy.2	-	7	877	c.771C>A	c.(769-771)AAC>AAA	p.N257K	ME1_uc011dzb.1_Missense_Mutation_p.N182K|ME1_uc011dzc.1_Missense_Mutation_p.N91K	NM_002395	NP_002386	P48163	MAOX_HUMAN	cytosolic malic enzyme 1	257					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TTCGATACTTGTTCAGGAGAC	0.328		NaN											1	0	2.00529e-23	0.00333	2.22208e-23	21	89									
AKD1	221264	broad.mit.edu	37	6	109980580	109980580	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:109980580G>A	uc003ptn.2	-	7	558	c.481C>T	c.(481-483)CAA>TAA	p.Q161*	AKD1_uc003ptr.3_Nonsense_Mutation_p.Q161*|AKD1_uc003pts.1_RNA	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	161					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						TGCTGTCTTTGCCCAGAAATT	0.303		NaN											0	0	0	0.00623	0	35	39									
GPR126	57211	broad.mit.edu	37	6	142691909	142691909	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:142691909G>C	uc010khc.2	+	4	1459	c.1048G>C	c.(1048-1050)GCT>CCT	p.A350P	GPR126_uc010khd.2_Missense_Mutation_p.A350P|GPR126_uc010khe.2_Missense_Mutation_p.A350P|GPR126_uc010khf.2_Missense_Mutation_p.A350P|GPR126_uc003qix.2_Missense_Mutation_p.A350P	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	350	Pentaxin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AGCTCTGAAAGCTGAAAGCAA	0.358		NaN											0	0	0	0.009096	0	3	48									
TAB2	23118	broad.mit.edu	37	6	149700178	149700178	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr6:149700178C>T	uc003qmj.2	+	3	1305	c.1127C>T	c.(1126-1128)ACG>ATG	p.T376M	TAB2_uc011eec.1_Missense_Mutation_p.T344M|TAB2_uc010kia.1_Missense_Mutation_p.T376M|TAB2_uc010kib.1_Missense_Mutation_p.T376M|TAB2_uc003qmk.3_RNA	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	mitogen-activated protein kinase kinase kinase 7	376					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding				0						CCCCCAAATACGGATGAGCTG	0.493		NaN											0	0	0	0.00333	0	26	60									
FOXK1	221937	broad.mit.edu	37	7	4794201	4794201	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:4794201C>T	uc003snc.1	+	3	868	c.858C>T	c.(856-858)GCC>GCT	p.A286A	FOXK1_uc003sna.1_Silent_p.A123A|FOXK1_uc003snb.1_Silent_p.A286A	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	forkhead box K1	286					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			upper_aerodigestive_tract(1)|skin(1)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CAGCAAAGGCCGCGTCGGAGC	0.657		NaN											0	0	0	0.010729	0	11	59									
DNAH11	8701	broad.mit.edu	37	7	21826264	21826264	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:21826264C>G	uc003svc.2	+	60	9672	c.9641C>G	c.(9640-9642)GCC>GGC	p.A3214G		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3214	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GAGCTGAAAGCCTTTCCCAAC	0.512		NaN							Kartagener_syndrome				0	0	0	0.006214	0	9	96									
HECW1	23072	broad.mit.edu	37	7	43484652	43484652	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:43484652G>A	uc003tid.1	+	11	2486	c.1881G>A	c.(1879-1881)ACG>ACA	p.T627T	HECW1_uc011kbi.1_Silent_p.T627T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	627					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						CTCCAGGCACGGCGCACCCTG	0.706		NaN											0	0	0	0.008291	0	11	20									
FBXO24	26261	broad.mit.edu	37	7	100187841	100187841	+	Silent	SNP	C	C	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:100187841C>G	uc003uvm.1	+	3	476	c.183C>G	c.(181-183)GCC>GCG	p.A61A	FBXO24_uc010lha.1_RNA|FBXO24_uc003uvl.1_Silent_p.A61A|FBXO24_uc003uvn.1_Intron|uc011kjy.1_Intron|FBXO24_uc011kjz.1_Silent_p.A99A|FBXO24_uc011kka.1_Silent_p.A49A	NM_033506	NP_277041	O75426	FBX24_HUMAN	F-box only protein 24 isoform 1	61	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACCTTGTTGCCCTCGGCCAGA	0.607		NaN											0	0	0	0.01441	0	64	31									
ACHE	43	broad.mit.edu	37	7	100491616	100491616	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:100491616G>A	uc003uxd.2	-	1	394	c.238C>T	c.(238-240)CCA>TCA	p.P80S	ACHE_uc003uxe.2_Missense_Mutation_p.P80S|ACHE_uc003uxf.2_Missense_Mutation_p.P80S|ACHE_uc003uxg.2_Missense_Mutation_p.P80S|ACHE_uc003uxh.2_Missense_Mutation_p.P80S|ACHE_uc003uxi.2_Missense_Mutation_p.P80S|ACHE_uc003uxj.1_Missense_Mutation_p.P199S	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	80					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GGCTCCGGTGGCAGAAAGCGA	0.627		NaN											0	0	0	0.005443	0	28	146									
ORAI2	80228	broad.mit.edu	37	7	102087006	102087006	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:102087006G>A	uc010lhz.1	+	4	507	c.272G>A	c.(271-273)CGG>CAG	p.R91Q	ORAI2_uc003uzj.2_Missense_Mutation_p.R91Q|ORAI2_uc003uzk.2_Missense_Mutation_p.R91Q|ORAI2_uc011kks.1_Missense_Mutation_p.R14Q	NM_001126340	NP_001119812	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator	91						integral to membrane	protein binding			ovary(1)|kidney(1)	2						CAGTACCCGCGGCCGCTGCTG	0.662		NaN											0	0	0	0.014323	0	17	72									
DDHD2	23259	broad.mit.edu	37	8	38095117	38095117	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr8:38095117G>A	uc003xlb.2	+	4	850	c.473G>A	c.(472-474)AGA>AAA	p.R158K	DDHD2_uc003xla.2_Missense_Mutation_p.R158K|DDHD2_uc003xlc.2_Missense_Mutation_p.R158K|DDHD2_uc011lbl.1_Silent_p.Q10Q	NM_015214	NP_056029	O94830	DDHD2_HUMAN	DDHD domain containing 2 isoform 1	158					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			large_intestine(1)|ovary(1)	2	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TCTCCCAACAGAGAAATTATT	0.333		NaN											0	0	0	0.006122	0	16	57									
KCNB2	9312	broad.mit.edu	37	8	73480335	73480335	+	Silent	SNP	A	A	G			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr8:73480335A>G	uc003xzb.2	+	2	954	c.366A>G	c.(364-366)GAA>GAG	p.E122E		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	122	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			TTGGCCAAGAACTTGATTACT	0.448		NaN											0	0	0	0.004878	0	37	120									
ZFHX4	79776	broad.mit.edu	37	8	77776411	77776411	+	Silent	SNP	T	T	C			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr8:77776411T>C	uc003yav.2	+	11	10713	c.10326T>C	c.(10324-10326)GTT>GTC	p.V3442V		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3438						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGAGCATGTTAGATTATTAC	0.433		NaN								HNSCC(33;0.089)			0	0	0	0.001168	0	6	24									
POU5F1B	5462	broad.mit.edu	37	8	128429170	128429170	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr8:128429170C>T	uc003ysf.2	+	1	1314	c.1059C>T	c.(1057-1059)GGC>GGT	p.G353G	uc003ysc.1_Intron|uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|uc011liu.1_5'Flank	NM_001159542	NP_001153014	Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	353						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TCACTCTGGGCTCTCCCATGC	0.577		NaN											0	0	0	0.001855	0	12	14									
COL22A1	169044	broad.mit.edu	37	8	139734291	139734291	+	Silent	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr8:139734291C>T	uc003yvd.2	-	26	2736	c.2289G>A	c.(2287-2289)CCG>CCA	p.P763P	COL22A1_uc011ljo.1_Silent_p.P63P	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	763	Collagen-like 5.|Pro-rich.|Gly-rich.			GKDGPNGPPGPPGTK -> CILAAKTAPGLKQLN (in Ref. 2; AAH42075).	cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGTTCCTGGCGGACCTGGTG	0.478		NaN								HNSCC(7;0.00092)			0	0	0	0.00308	0	7	17									
SETX	23064	broad.mit.edu	37	9	135205856	135205856	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr9:135205856C>A	uc004cbk.2	-	10	1312	c.1129G>T	c.(1129-1131)GAT>TAT	p.D377Y	SETX_uc004cbj.2_5'UTR|SETX_uc010mzt.2_5'UTR	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	377					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GGACAATAATCTGGGCAAATG	0.388		NaN											1	0	1.68575e-08	0.007291	1.78748e-08	29	14									
ZNF645	158506	broad.mit.edu	37	X	22291957	22291957	+	Silent	SNP	G	G	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chrX:22291957G>A	uc004dai.1	+	1	898	c.849G>A	c.(847-849)GCG>GCA	p.A283A		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	283	Pro-rich.					intracellular	zinc ion binding			lung(1)|pancreas(1)	2						AGCATTATGCGCCACCTCCAT	0.473		NaN											0	0	0	0.01441	0	69	20									
FLNA	2316	broad.mit.edu	37	X	153592464	153592464	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chrX:153592464C>T	uc004fkk.2	-	15	2455	c.2206G>A	c.(2206-2208)GTG>ATG	p.V736M	FLNA_uc010nuu.1_Missense_Mutation_p.V736M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	736	Filamin 5.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCTGGGCACGTAGGAGCAG	0.612		NaN											0	0	0	0.01441	0	73	18									
TAF5	6877	broad.mit.edu	37	10	105133276	105133277	+	Frame_Shift_Ins	INS	-	-	A			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr10:105133276_105133277insA	uc001kwv.2	+	2	744_745	c.721_722insA	c.(721-723)TATfs	p.Y241fs	TAF5_uc010qqq.1_Frame_Shift_Ins_p.Y241fs	NM_006951	NP_008882	Q15542	TAF5_HUMAN	TBP-associated factor 5	241					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)	2		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CCAACTTTTTTATCCTCTGTTT	0.371		NaN											NaN	NaN	NaN	NaN	NaN	105	165	---	---							
MLL2	8085	broad.mit.edu	37	12	49425220	49425220	+	Frame_Shift_Del	DEL	G	G	-			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr12:49425220delG	uc001rta.3	-	39	13268	c.13268delC	c.(13267-13269)CCAfs	p.P4423fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4423					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CAGGGCACATGGCTCTTCCCG	0.622		NaN	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			NaN	NaN	NaN	NaN	NaN	30	57	---	---							
CDKL4	344387	broad.mit.edu	37	2	39417450	39417453	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr2:39417450_39417453delTGTT	uc002rrm.2	-	5	645_648	c.645_648delAACA	c.(643-648)AGAACAfs	p.R215fs	CDKL4_uc010fal.1_Frame_Shift_Del_p.R215fs	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	215_216	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			ovary(1)	1		all_hematologic(82;0.248)				TCATACCTAGTGTTCTGATTATCA	0.343		NaN											NaN	NaN	NaN	NaN	NaN	25	96	---	---							
IRX4	50805	broad.mit.edu	37	5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr5:1879669_1879671delCCT	uc003jcz.2	-	4	802_804	c.683_685delAGG	c.(682-687)GAGGGG>GGG	p.E228del	IRX4_uc011cmf.1_In_Frame_Del_p.E89del	NM_016358	NP_057442	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.507		NaN											NaN	NaN	NaN	NaN	NaN	7	141	---	---							
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C4-A0F7-01A-11D-A10S-08	TCGA-C4-A0F7-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f389176f-d8f3-45c2-aae4-7378a3d6fc7f	df7ba0ba-91dd-453c-b60b-699994ec4b3b	g.chr7:92146721delT	uc003uly.2	-	5	1204	c.1108delA	c.(1108-1110)ATTfs	p.I370fs	PEX1_uc011khr.1_Frame_Shift_Del_p.I162fs|PEX1_uc010ley.2_Frame_Shift_Del_p.I370fs|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	370					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353		NaN											NaN	NaN	NaN	NaN	NaN	7	418	---	---