Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MYH6	4624	broad.mit.edu	37	14	23855760	23855760	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr14:23855760C>T	ENST00000405093.3	-	33	4793	c.4723G>A	c.(4723-4725)Gag>Aag	p.E1575K	MYH6_ENST00000356287.3_Missense_Mutation_p.E1575K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1575					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGCTTCCGCTCGATCTCTGCC	0.647000													7	197					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4935762	4935762	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr16:4935762T>G	ENST00000345988.2	-	22	2983	c.2894A>C	c.(2893-2895)cAg>cCg	p.Q965P	PPL_ENST00000590782.2_Missense_Mutation_p.Q963P	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	965					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTGCAGCAGCTGGTTCTTGTG	0.647000													6	106					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27349406	27349406	+	Silent	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr3:27349406G>C	ENST00000429845.2	-	12	1109	c.747C>G	c.(745-747)ctC>ctG	p.L249L	NEK10_ENST00000341435.5_Silent_p.L249L			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	249							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTACAATGTTGAGTTCACTTA	0.299000													6	40					0	0	1	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117988143	117988143	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr11:117988143C>G	ENST00000534111.1	+	12	1535	c.1270C>G	c.(1270-1272)Ctc>Gtc	p.L424V	TMPRSS4_ENST00000523251.1_Missense_Mutation_p.L386V|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.L421V|TMPRSS4_ENST00000437212.3_Missense_Mutation_p.L426V|TMPRSS4_ENST00000518413.2_3'UTR|TMPRSS4_ENST00000522307.1_Missense_Mutation_p.L279V	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	426	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CTCAGCCTATCTCAACTGGAT	0.572000													9	76					0	0	1	0	0
OSBPL2	9885	broad.mit.edu	37	20	60835058	60835058	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr20:60835058C>T	ENST00000313733.3	+	3	261	c.59C>T	c.(58-60)tCt>tTt	p.S20F	OSBPL2_ENST00000358053.2_Intron|OSBPL2_ENST00000439951.2_Intron	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	20					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GATAACTCTTCTGGGGAATTT	0.413000													4	109					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20620538	20620538	+	Missense_Mutation	SNP	G	G	C	rs142621552	by1000genomes	TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr4:20620538G>C	ENST00000504154.1	+	37	4748	c.4496G>C	c.(4495-4497)cGg>cCg	p.R1499P	SLIT2_ENST00000503837.1_Missense_Mutation_p.R1495P|SLIT2_ENST00000273739.5_Missense_Mutation_p.R1512P|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1491P	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1499	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGGAGCAAGCGGCGGAAATAC	0.557000													3	52					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44186205	44186205	+	Silent	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr7:44186205G>C	ENST00000403799.3	-	8	1345	c.876C>G	c.(874-876)ctC>ctG	p.L292L	GCK_ENST00000437084.1_Silent_p.L275L|GCK_ENST00000345378.2_Silent_p.L293L|GCK_ENST00000395796.3_Silent_p.L291L	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	292					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TGCCACCTATGAGCTTCTCAT	0.637000													12	93					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109815501	109815501	+	Silent	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr1:109815501G>A	ENST00000271332.3	+	31	8251	c.8190G>A	c.(8188-8190)caG>caA	p.Q2730Q	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2730					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AAGACGACCAGAGTGGCTCCT	0.602000													5	59					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37146155	37146155	+	Missense_Mutation	SNP	C	C	T	rs61738517		TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr20:37146155C>T	ENST00000262879.6	+	8	1342	c.1058C>T	c.(1057-1059)tCt>tTt	p.S353F	RALGAPB_ENST00000537204.1_Missense_Mutation_p.S353F|RALGAPB_ENST00000397038.1_Missense_Mutation_p.S131F|RALGAPB_ENST00000397042.3_Missense_Mutation_p.S353F|RALGAPB_ENST00000397040.1_Missense_Mutation_p.S353F			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	353					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TAAGGTATTTCTAGACCCCGA	0.418000													8	104					0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36212457	36212457	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr1:36212457G>A	ENST00000251195.5	-	15	2860	c.2764C>T	c.(2764-2766)Cag>Tag	p.Q922*	CLSPN_ENST00000318121.3_Nonsense_Mutation_p.Q922*|CLSPN_ENST00000373220.3_Nonsense_Mutation_p.Q858*|CLSPN_ENST00000520551.1_Nonsense_Mutation_p.Q869*			Q9HAW4	CLSPN_HUMAN	claspin	922					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTTCAGCCTGAGATGTGAAC	0.438000													5	108					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28931751	28931751	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr13:28931751G>C	ENST00000282397.4	-	15	2439	c.2188C>G	c.(2188-2190)Cac>Gac	p.H730D		NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	730	Ig-like C2-type 7.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCTTTGCAGTGATAGACACCT	0.438000													7	123					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138255747	138255747	+	Splice_Site	SNP	A	A	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr7:138255747A>G	ENST00000343526.4	+	11	2092	c.1877A>G	c.(1876-1878)gAt>gGt	p.D626G	TRIM24_ENST00000415680.2_Splice_Site_p.D592G			O15164	TIF1A_HUMAN	tripartite motif containing 24	626					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TCTCTTCCGGATGTAAGTAGA	0.473000													6	89					0	0	1	0	0
PRPF18	8559	broad.mit.edu	37	10	13652141	13652141	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr10:13652141G>T	ENST00000378572.3	+	5	626	c.466G>T	c.(466-468)Gat>Tat	p.D156Y		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	156					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						CACACAGAATGATCTGAAAGT	0.463000													4	81					0.150653	0.151619	1	1	0
CRK	1398	broad.mit.edu	37	17	1340249	1340249	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr17:1340249C>G	ENST00000300574.2	-	2	582	c.442G>C	c.(442-444)Gag>Cag	p.E148Q	CRK_ENST00000398970.5_Missense_Mutation_p.E148Q|CRK_ENST00000574295.1_Intron|CRK_ENST00000572145.1_5'UTR	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	148	SH3 1.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		AGATCTTCCTCATCATTCCCA	0.512000													4	100					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62285798	62285798	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr11:62285798G>A	ENST00000378024.4	-	5	16365	c.16091C>T	c.(16090-16092)aCa>aTa	p.T5364I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5364					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCCCTCAGTGTCACATCTGG	0.547000													4	101					0	0	1	0	0
WDR76	79968	broad.mit.edu	37	15	44149265	44149265	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr15:44149265C>A	ENST00000263795.6	+	10	1383	c.1313C>A	c.(1312-1314)aCt>aAt	p.T438N	WDR76_ENST00000381246.2_Missense_Mutation_p.T374N	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	438										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		ACACCTGGAACTTCTTATGAG	0.428000													3	59					1	1	1	1	0
H6PD	9563	broad.mit.edu	37	1	9307028	9307028	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr1:9307028G>A	ENST00000377403.2	+	3	933	c.631G>A	c.(631-633)Gtg>Atg	p.V211M	H6PD_ENST00000602477.1_Missense_Mutation_p.V222M	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	211	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CCGACAGGCTGTGGCGCAGAT	0.602000													4	80					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1267661	1267661	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr11:1267661C>T	ENST00000447027.1	+	31	9618	c.9560C>T	c.(9559-9561)tCc>tTc	p.S3187F	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.S3184F			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3184	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCACCGCCTCCTCCACCCGG	0.677000													8	138					0	0	1	0	0
SAFB2	9667	broad.mit.edu	37	19	5622601	5622601	+	Silent	SNP	C	C	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr19:5622601C>T	ENST00000252542.4	-	1	390	c.126G>A	c.(124-126)ctG>ctA	p.L42L		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	42	SAP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TCCGCTTCTTCAGCTCCGCCC	0.716000													5	24					0	0	1	0	0
FUT1	2523	broad.mit.edu	37	19	49254216	49254216	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr19:49254216C>T	ENST00000310160.3	-	4	1297	c.323G>A	c.(322-324)cGc>cAc	p.R108H		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	108					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AAAGGCCCGGCGGCCGTTGAG	0.662000													5	33					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63995494	63995494	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr6:63995494G>C	ENST00000370658.5	-	3	361	c.328C>G	c.(328-330)Caa>Gaa	p.Q110E	LGSN_ENST00000370657.4_Missense_Mutation_p.Q110E	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	110					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	AAACTCACTTGAAAAAAGTGT	0.393000													3	38					0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215793545	215793545	+	Missense_Mutation	SNP	G	G	A	rs141252284		TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr1:215793545G>A	ENST00000259154.4	+	18	2327	c.2033G>A	c.(2032-2034)aGa>aAa	p.R678K	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	678						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AATTTGAACAGAAATGTAGAA	0.418000													4	40					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86261238	86261238	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr15:86261238G>A	ENST00000394518.2	+	22	5944	c.5849G>A	c.(5848-5850)gGa>gAa	p.G1950E	AKAP13_ENST00000394510.2_Splice_Site_p.G195E|AKAP13_ENST00000361243.2_Splice_Site_p.G1954E|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1950	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATATATTGAGGAGTAGGTACA	0.388000													4	67					0	0	1	0	0
MESP2	145873	broad.mit.edu	37	15	90321401	90321401	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr15:90321401A>G	ENST00000341735.3	+	2	1030	c.1030A>G	c.(1030-1032)Agc>Ggc	p.S344G	MESP2_ENST00000560219.1_Missense_Mutation_p.S46G|MESP2_ENST00000558723.1_3'UTR	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	344					Notch signaling pathway	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			GAGGTGCTGGAGCCACAGTGC	0.657000													4	38					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140482860	140482860	+	Silent	SNP	T	T	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr7:140482860T>C	ENST00000288602.6	-	10	1335	c.1275A>G	c.(1273-1275)gaA>gaG	p.E425E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	425					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	ATGACTTCCTTTCTCGCTGAG	0.428000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				3	60					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175755	140175755	+	Silent	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr5:140175755G>A	ENST00000526136.1	+	1	1206	c.1206G>A	c.(1204-1206)aaG>aaA	p.K402K	PCDHA2_ENST00000520672.2_Silent_p.K402K|PCDHA2_ENST00000378132.1_Silent_p.K402K|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTTCAAGAATTACTACT	0.602000													6	157					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7768987	7768987	+	Silent	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr10:7768987G>A	ENST00000358415.4	+	10	1225	c.1059G>A	c.(1057-1059)caG>caA	p.Q353Q	ITIH2_ENST00000379587.4_Silent_p.Q342Q	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	353	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ATTTCAACCAGAACATTCGAA	0.398000													4	65					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9257973	9257973	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr18:9257973C>G	ENST00000262126.4	+	9	4948	c.4708C>G	c.(4708-4710)Caa>Gaa	p.Q1570E	ANKRD12_ENST00000383440.2_Missense_Mutation_p.Q1547E|ANKRD12_ENST00000400020.3_Missense_Mutation_p.Q1547E	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CAGCACTATTCAAGAAGCATC	0.368000													5	71					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92560230	92560230	+	Silent	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr13:92560230G>A	ENST00000377067.3	+	6	1692	c.1320G>A	c.(1318-1320)caG>caA	p.Q440Q		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	440						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TCAAAGCCCAGTCTGGAAATC	0.388000													7	58					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101332	168101332	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr2:168101332G>A	ENST00000409195.1	+	9	3519	c.3430G>A	c.(3430-3432)Gaa>Aaa	p.E1144K	XIRP2_ENST00000295237.9_Missense_Mutation_p.E1144K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E922K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	969				Q -> R (in Ref. 7; CAF25193 and 8; CAD38624).	actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGATGACTCTGAAACAGCAGT	0.393000													7	82					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1805533	1805533	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr4:1805533C>G	ENST00000440486.2	+	8	1301	c.1045C>G	c.(1045-1047)Cat>Gat	p.H349D	FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000481110.2_Missense_Mutation_p.H349D|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000260795.2_Missense_Mutation_p.H349D	NM_000142.4	NP_000133.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	349	Ig-like C2-type 3.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TGGGTTTTCTCATCACTCTGC	0.612000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				5	64					0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95200108	95200108	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr4:95200108G>C	ENST00000354268.4	+	19	2398	c.2325G>C	c.(2323-2325)atG>atC	p.M775I	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.M777I|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.M345I			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	775					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GCAATGTCATGATGCAGTTGA	0.343000													4	48					0	0	1	0	0
FAM159A	348378	broad.mit.edu	37	1	53108627	53108627	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr1:53108627C>G	ENST00000517870.1	+	2	425	c.275C>G	c.(274-276)tCt>tGt	p.S92C	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	92						integral to membrane		p.S92Y(1)		endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						TTCATCAGCTCTAAGCCCCAC	0.522000													6	85					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42213814	42213814	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr19:42213814G>A	ENST00000221992.6	+	2	394	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM5_ENST00000398599.4_Missense_Mutation_p.A94T|CEA_ENST00000598976.1_Missense_Mutation_p.A94T|CEACAM5_ENST00000405816.1_Missense_Mutation_p.A94T	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	94	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCAGGGCCCGCATACAGTGG	0.458000													4	211					0	0	1	0	0
MIR496	574454	broad.mit.edu	37	14	101526925	101526925	+	RNA	SNP	C	C	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr14:101526925C>G	ENST00000385226.1	+	0	16					NR_030176.1																						GTCAGGTACTCGAATGGAGGT	0.522000													3	45					0	0	1	0	0
NELFCD	51497	broad.mit.edu	37	20	57569211	57569211	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr20:57569211T>C	ENST00000602795.1	+	14	1730	c.1682T>C	c.(1681-1683)cTt>cCt	p.L561P	NELFCD_ENST00000479207.1_3'UTR|NELFCD_ENST00000344018.3_Missense_Mutation_p.L552P	NM_198976.2	NP_945327.2			negative elongation factor complex member C/D																		TTCGTGCAACTTTTCCTCCCC	0.562000													4	56					0	0	1	0	0
MAP2K6	5608	broad.mit.edu	37	17	67519677	67519677	+	Silent	SNP	C	C	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr17:67519677C>T	ENST00000590474.1	+	8	845	c.558C>T	c.(556-558)ctC>ctT	p.L186L	MAP2K6_ENST00000589647.1_Silent_p.L130L	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	186	Protein kinase.				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CTAATGTACTCATCAATGCTC	0.448000													9	172					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21030959	21030959	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr16:21030959G>C	ENST00000261383.3	-	41	6008	c.6009C>G	c.(6007-6009)atC>atG	p.I2003M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2003					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTTCTGGAAAGATGTTGTTTT	0.398000													7	101					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34089025	34089025	+	Silent	SNP	C	C	A	rs145955934		TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr1:34089025C>A	ENST00000373381.4	-	36	5843	c.5667G>T	c.(5665-5667)tcG>tcT	p.S1889S	CSMD2_ENST00000373380.1_Silent_p.S762S|CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1849	CUB 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATACTTCCAGCGAGTCCCAGT	0.498000													12	95					3.87621e-19	4.16825e-19	1	1	0
FGFR3	2261	broad.mit.edu	37	4	1805519	1805519	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr4:1805519C>A	ENST00000440486.2	+	8	1287	c.1031C>A	c.(1030-1032)tCt>tAt	p.S344Y	FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000481110.2_Missense_Mutation_p.S344Y|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000260795.2_Missense_Mutation_p.S344Y	NM_000142.4	NP_000133.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	344	Ig-like C2-type 3.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GCGGGCAATTCTATTGGGTTT	0.622000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				4	58					0.00909568	0.00939488	1	1	0
RSPH6A	81492	broad.mit.edu	37	19	46308269	46308269	+	Silent	SNP	C	C	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr19:46308269C>T	ENST00000221538.3	-	3	1036	c.894G>A	c.(892-894)gaG>gaA	p.E298E	RSPH6A_ENST00000600188.1_Silent_p.E34E|RSPH6A_ENST00000597055.1_Silent_p.E298E	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	298						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GCACTGGTGTCTCCCCCTGCG	0.582000													6	39					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38991657	38991657	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr3:38991657T>C	ENST00000450244.1	-	1	395	c.197A>G	c.(196-198)tAt>tGt	p.Y66C	SCN11A_ENST00000444237.2_Missense_Mutation_p.Y66C|SCN11A_ENST00000456224.3_Missense_Mutation_p.Y66C|SCN11A_ENST00000302328.3_Missense_Mutation_p.Y66C			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	66					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AATGTCGCCATAGAGCTTGGG	0.532000													9	127					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525637	248525637	+	Missense_Mutation	SNP	T	T	C	rs74834168	by1000genomes	TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr1:248525637T>C	ENST00000366475.1	+	1	755	c.755T>C	c.(754-756)cTc>cCc	p.L252P		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCTATTTACTCATCCTCCTC	0.517000													10	105					0	0	1	0	0
ABHD6	57406	broad.mit.edu	37	3	58260453	58260453	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr3:58260453G>A	ENST00000478253.1	+	7	1093	c.592G>A	c.(592-594)Gag>Aag	p.E198K	ABHD6_ENST00000295962.4_Missense_Mutation_p.E198K			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	198						integral to membrane	acylglycerol lipase activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		TGCCGCCGTGGAGAAGATTCC	0.512000													18	124					0	0	1	0	0
TGOLN2	10618	broad.mit.edu	37	2	85554325	85554325	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr2:85554325T>C	ENST00000377386.3	-	2	992	c.530A>G	c.(529-531)gAt>gGt	p.D177G	TGOLN2_ENST00000444342.2_Missense_Mutation_p.D177G|TGOLN2_ENST00000398263.2_Missense_Mutation_p.D177G|TGOLN2_ENST00000409232.3_Missense_Mutation_p.D177G|TGOLN2_ENST00000282120.2_Missense_Mutation_p.D79G|TGOLN2_ENST00000409015.1_Missense_Mutation_p.D177G			O43493	TGON2_HUMAN	trans-golgi network protein 2	177	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										ATTAGGGACATCTTTTGTGGT	0.592000													44	633					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72938262	72938262	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr8:72938262A>G	ENST00000262209.4	-	25	3191	c.2984T>C	c.(2983-2985)cTa>cCa	p.L995P	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	995						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CACTTTGCGTAGAAACCAAAG	0.368000													5	89					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33288595	33288595	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr6:33288595A>T	ENST00000374542.5	-	3	1161	c.957T>A	c.(955-957)gaT>gaA	p.D319E	DAXX_ENST00000414083.2_Missense_Mutation_p.D244E|DAXX_ENST00000266000.6_Missense_Mutation_p.D319E|DAXX_ENST00000477162.1_Intron	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	319					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGATGCCCACATCTCGGAAGG	0.587000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								8	86					0	0	1	0	0
NIPSNAP3A	25934	broad.mit.edu	37	9	107513395	107513395	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr9:107513395G>C	ENST00000374767.4	+	2	324	c.219G>C	c.(217-219)tgG>tgC	p.W73C		NM_015469.1	NP_056284.1			nipsnap homolog 3A (C. elegans)											autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	8						TTGGATACTGGAGTGTAGAAT	0.363000													6	128					0	0	1	0	0
TRIM47	91107	broad.mit.edu	37	17	73870740	73870740	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr17:73870740G>A	ENST00000254816.2	-	6	1767	c.1741C>T	c.(1741-1743)Cgc>Tgc	p.R581C	TRIM47_ENST00000587339.1_Missense_Mutation_p.R343C	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	581	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCACCCCGGCGGGGCCGGGAG	0.652000													7	49					0	0	1	0	0
AASDH	132949	broad.mit.edu	37	4	57244339	57244339	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr4:57244339T>C	ENST00000205214.6	-	4	823	c.643A>G	c.(643-645)Ata>Gta	p.I215V	AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000513376.1_Missense_Mutation_p.I115V|AASDH_ENST00000602986.1_Missense_Mutation_p.I62V|AASDH_ENST00000451613.1_Missense_Mutation_p.I215V|AASDH_ENST00000502617.1_Missense_Mutation_p.I215V|AASDH_ENST00000434343.2_Intron	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	215					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTTGGTACTATACACTTATGA	0.418000													5	75					0	0	1	0	0
UTP15	84135	broad.mit.edu	37	5	72875896	72875896	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr5:72875896G>C	ENST00000296792.4	+	13	1789	c.1534G>C	c.(1534-1536)Gag>Cag	p.E512Q	UTP15_ENST00000508491.1_Missense_Mutation_p.E493Q|UTP15_ENST00000543251.1_Missense_Mutation_p.E322Q	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	512					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TGGATTTCCAGAGAATAAGAA	0.383000													3	46					0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66641851	66641851	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr12:66641851C>T	ENST00000261233.4	+	12	2112	c.1691C>T	c.(1690-1692)tCt>tTt	p.S564F	IRAK3_ENST00000457197.2_Missense_Mutation_p.S503F	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	564					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		ATAGATCCTTCTTCAGAAGCT	0.433000													5	118					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs145089594	by1000genomes	TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr17:45128685T>C	ENST00000575173.1	-	0	418																											TTCCAGGATATGGCTATACTG	0.303000													4	156					0	0	1	0	0
NFYA	4800	broad.mit.edu	37	6	41059368	41059368	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr6:41059368C>T	ENST00000341376.6	+	7	850	c.649C>T	c.(649-651)Caa>Taa	p.Q217*	NFYA_ENST00000353205.5_Nonsense_Mutation_p.Q188*|OARD1_ENST00000480585.1_Intron	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	217					transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAGCAGTGGGCAAGGGACTGT	0.473000													4	73					0	0	1	0	0
FYTTD1	84248	broad.mit.edu	37	3	197495409	197495409	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr3:197495409G>A	ENST00000241502.4	+	3	557	c.335G>A	c.(334-336)gGa>gAa	p.G112E	FYTTD1_ENST00000415708.2_Missense_Mutation_p.G86E|FYTTD1_ENST00000424384.2_Missense_Mutation_p.G45E|FYTTD1_ENST00000428395.2_Missense_Mutation_p.G21E	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1						mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		AAAACGACTGGAATTCGAAAA	0.418000													4	64					0	0	1	0	0
PNPLA4	8228	broad.mit.edu	37	X	7870136	7870136	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chrX:7870136A>G	ENST00000381042.4	-	6	694	c.524T>C	c.(523-525)gTc>gCc	p.V175A	PNPLA4_ENST00000537427.1_Missense_Mutation_p.V88A|PNPLA4_ENST00000444736.1_Missense_Mutation_p.V175A	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	175	Patatin.				lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				TGTCCGGCCGACGGGCAGGAT	0.547000													4	39					0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57909829	57909829	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr12:57909829C>G	ENST00000315473.5	+	18	2467	c.1816C>G	c.(1816-1818)Cta>Gta	p.L606V	MARS_ENST00000262027.5_Intron			P56192	SYMC_HUMAN	methionyl-tRNA synthetase	0					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CATCACTTCCCTAATTTCCCT	0.488000													3	32					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29821654	29821654	+	Silent	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr10:29821654G>A	ENST00000375398.2	-	10	2091	c.1642C>T	c.(1642-1644)Ctg>Ttg	p.L548L	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Silent_p.L548L			O95425	SVIL_HUMAN	supervillin	548					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AAATCTGACAGAGAGCGGGTA	0.567000													7	108					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109318281	109318281	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr13:109318281G>A	ENST00000356711.2	+	2	136	c.10G>A	c.(10-12)Gac>Aac	p.D4N	MYO16_ENST00000251041.5_Missense_Mutation_p.D4N|MYO16_ENST00000357550.2_Missense_Mutation_p.D4N	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	4					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GATGGAAATCGACCAGTGCTT	0.493000													5	38					0	0	1	0	0
ALX1	8092	broad.mit.edu	37	12	85694984	85694984	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr12:85694984T>C	ENST00000316824.3	+	4	867	c.712T>C	c.(712-714)Tca>Cca	p.S238P		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	238					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TGTGGTTACTTCATGCATGTT	0.413000													8	125					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124332633	124332633	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr12:124332633G>A	ENST00000409039.3	+	32	5611	c.5586G>A	c.(5584-5586)atG>atA	p.M1862I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1862	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCGAAGGCATGGATTACAGGG	0.567000													4	109					0	0	1	0	0
ADAD2	161931	broad.mit.edu	37	16	84229911	84229911	+	Silent	SNP	C	C	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr16:84229911C>G	ENST00000268624.3	+	9	1800	c.1707C>G	c.(1705-1707)ctC>ctG	p.L569L	RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Silent_p.L487L|RP11-486L19.2_ENST00000565643.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	487	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GCCTGAGCCTCAACTGGAGCC	0.701000													3	63					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	124177327	124177327	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr4:124177327G>A	ENST00000274008.4	+	15	2566	c.2497G>A	c.(2497-2499)Gga>Aga	p.G833R		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CGCATACTCAGGAGCAGAGGT	0.438000													4	71					0	0	1	0	0
SARS2	54938	broad.mit.edu	37	19	39421229	39421229	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr19:39421229C>T	ENST00000221431.6	-	1	307	c.148G>A	c.(148-150)Gag>Aag	p.E50K	SARS2_ENST00000430193.3_Missense_Mutation_p.E50K|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000600042.1_Missense_Mutation_p.E50K|MRPS12_ENST00000308018.4_5'UTR|CTC-360G5.8_ENST00000599996.1_Intron	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	50					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTGTAGCCCTCGCGCGCATAC	0.627000											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	121					0	0	1	0	0
SGK3	23678	broad.mit.edu	37	8	67753282	67753282	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr8:67753282T>G	ENST00000396596.1	+	13	1129	c.915T>G	c.(913-915)ttT>ttG	p.F305L	SGK3_ENST00000522398.1_Missense_Mutation_p.F305L|SGK3_ENST00000521435.1_3'UTR|SGK3_ENST00000345714.4_Missense_Mutation_p.F305L|SGK3_ENST00000521198.2_Missense_Mutation_p.F305L|SGK3_ENST00000520976.1_Missense_Mutation_p.F305L|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.F305L	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	305	Protein kinase.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TAACAGATTTTGGGCTTTGTA	0.313000													3	69					0	0	1	0	0
PSMD4	5710	broad.mit.edu	37	1	151238074	151238074	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr1:151238074G>C	ENST00000368884.3	+	6	723	c.643G>C	c.(643-645)Gag>Cag	p.E215Q	PSMD4_ENST00000368881.4_Missense_Mutation_p.E215Q	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	215					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTGATCCTGAGCTGGCCTT	0.512000													3	63					0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205238562	205238562	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr1:205238562C>G	ENST00000358024.3	+	3	1621	c.1232C>G	c.(1231-1233)tCt>tGt	p.S411C	TMCC2_ENST00000330675.7_Missense_Mutation_p.S186C|TMCC2_ENST00000329800.7_Missense_Mutation_p.S171C|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.S333C	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	411						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGCAGCCTCTCTGGCCTCTCA	0.672000													5	66					0	0	1	0	0
IKZF4	64375	broad.mit.edu	37	12	56428852	56428852	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr12:56428852C>T	ENST00000262032.5	+	12	1862	c.1495C>T	c.(1495-1497)Ccc>Tcc	p.P499S	IKZF4_ENST00000431367.2_Missense_Mutation_p.P397S|IKZF4_ENST00000547791.1_Missense_Mutation_p.P454S|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Missense_Mutation_p.P499S			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	499					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CAAAGAGGACCCCAAGCCACA	0.662000													3	72					0	0	1	0	0
GPANK1	7918	broad.mit.edu	37	6	31631940	31631940	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr6:31631940G>A	ENST00000375906.1	-	3	1000	c.316C>T	c.(316-318)Cac>Tac	p.H106Y	GPANK1_ENST00000375900.4_Missense_Mutation_p.H106Y|GPANK1_ENST00000375895.2_Missense_Mutation_p.H106Y|GPANK1_ENST00000375893.2_Missense_Mutation_p.H106Y|GPANK1_ENST00000375896.4_Missense_Mutation_p.H106Y	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	106						intracellular	nucleic acid binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						AGTATCCGGTGAGTCATCTTA	0.562000													4	54					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17369630	17369630	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr7:17369630G>C	ENST00000242057.4	+	5	1148	c.505G>C	c.(505-507)Gaa>Caa	p.E169Q		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	169	PAS 1.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					AGACCGAGCTGAATTTCAGCG	0.368000													10	90					0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49419397	49419397	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr6:49419397T>C	ENST00000274813.3	-	6	1241	c.1114A>G	c.(1114-1116)Ata>Gta	p.I372V		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	372					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATTGCTTCTATTGCAGTACGG	0.363000													5	64					0	0	1	0	0
ABR	29	broad.mit.edu	37	17	973270	973270	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr17:973270G>A	ENST00000544583.2	-	9	1416	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	ABR_ENST00000302538.5_Missense_Mutation_p.R319W|ABR_ENST00000291107.2_Missense_Mutation_p.R282W|ABR_ENST00000574437.1_Missense_Mutation_p.R273W|ABR_ENST00000536794.2_Missense_Mutation_p.R101W	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	319	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		AAGACGTGCCGCAGCTTCCGG	0.627000													3	25					0	0	1	0	0
IGKV1-6	28943	broad.mit.edu	37	2	89265853	89265853	+	RNA	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr2:89265853G>C	ENST00000464162.1	-	0	307																											TGGTGAGAGTGAAATCTGTGC	0.478000													7	232					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119256780	119256780	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr4:119256780G>A	ENST00000296498.3	-	3	950	c.668C>T	c.(667-669)cCg>cTg	p.P223L		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	223	SRCR 1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TCCAGAAAACGGGGTTTGTTT	0.383000													4	102					0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8862828	8862828	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr16:8862828G>C	ENST00000396600.2	+	11	1752	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	ABAT_ENST00000569156.1_Missense_Mutation_p.E272Q|ABAT_ENST00000567812.1_Missense_Mutation_p.E287Q|ABAT_ENST00000425191.2_Missense_Mutation_p.E272Q|ABAT_ENST00000268251.8_Missense_Mutation_p.E272Q	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	272					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CTGTCTGGAAGAGGTAATGCT	0.547000													3	77					0	0	1	0	0
ESR1	2099	broad.mit.edu	37	6	152265421	152265421	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr6:152265421T>C	ENST00000440973.1	+	6	1244	c.874T>C	c.(874-876)Tgg>Cgg	p.W292R	ESR1_ENST00000443427.1_Missense_Mutation_p.W292R|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000427531.2_Missense_Mutation_p.W119R|ESR1_ENST00000338799.5_Missense_Mutation_p.W292R|ESR1_ENST00000206249.3_Missense_Mutation_p.W292R	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	292	Hinge.|Interaction with AKAP13.|Mediates interaction with DNTTIP2.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	TGCCAACCTTTGGCCAAGCCC	0.582000													6	56					0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166535317	166535317	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr2:166535317C>T	ENST00000314499.7	+	7	1188	c.812C>T	c.(811-813)aCa>aTa	p.T271I	CSRNP3_ENST00000342316.4_Missense_Mutation_p.T271I|CSRNP3_ENST00000409420.1_Missense_Mutation_p.T303I	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	271					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TTTTTGCACACAATAATGAAA	0.453000													4	57					0	0	1	0	0
SLC30A1	7779	broad.mit.edu	37	1	211749341	211749341	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr1:211749341C>G	ENST00000367001.4	-	2	1042	c.913G>C	c.(913-915)Gtt>Ctt	p.V305L		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	305					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		GCCTCATAAACTGATGCATGA	0.378000													4	122					0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57313383	57313383	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chrX:57313383G>T	ENST00000374900.4	+	1	245	c.125G>T	c.(124-126)cGg>cTg	p.R42L		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	42						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						AAGACCCCTCGGCCGGTGACT	0.537000										HNSCC(52;0.14)			3	19					0.004672	0.00485764	1	1	0
GRPEL2	134266	broad.mit.edu	37	5	148730702	148730702	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr5:148730702G>A	ENST00000329271.3	+	4	645	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	GRPEL2_ENST00000416916.2_3'UTR|GRPEL2_ENST00000507562.1_3'UTR|GRPEL2-AS1_ENST00000521295.1_RNA	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)	179					protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGAGCATGAACTCATCTG	0.498000													8	125					0	0	1	0	0
ZNF24	7572	broad.mit.edu	37	18	32920382	32920382	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr18:32920382C>A	ENST00000589881.1	-	1	236	c.233G>T	c.(232-234)cGt>cTt	p.R78L	ZNF24_ENST00000261332.6_Missense_Mutation_p.R78L|ZNF24_ENST00000399061.3_Missense_Mutation_p.R78L			P17028	ZNF24_HUMAN	zinc finger protein 24	78	SCAN box.				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						GAGCCACAGACGGCAAAGTTC	0.547000													6	131					0.0293803	0.0299527	1	1	0
CCDC173	129881	broad.mit.edu	37	2	170531120	170531120	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr2:170531120C>G	ENST00000447353.1	-	4	733	c.628G>C	c.(628-630)Gaa>Caa	p.E210Q		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173																		GCCACCCTTTCTCTGTGTCGT	0.323000													4	73					0	0	1	0	0
TAF9B	51616	broad.mit.edu	37	X	77393572	77393572	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chrX:77393572C>T	ENST00000341864.5	-	3	251	c.157G>A	c.(157-159)Gat>Aat	p.D53N		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	53					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						ATTTTTGCATCATCCAGAATT	0.348000													10	71					0	0	1	0	0
NOM1	64434	broad.mit.edu	37	7	156756698	156756698	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr7:156756698G>A	ENST00000275820.3	+	7	2026	c.2011G>A	c.(2011-2013)Gat>Aat	p.D671N		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	671	MI.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGATTTTTTGGATGCTTTTGA	0.373000													4	62					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32768541	32768541	+	Silent	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr2:32768541G>A	ENST00000421745.2	+	62	12659	c.12525G>A	c.(12523-12525)ctG>ctA	p.L4175L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4175					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AAGTGCTACTGAAAGAGAGAA	0.428000													5	115					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140258001	140258001	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr7:140258001G>C	ENST00000275884.6	-	10	2318	c.1901C>G	c.(1900-1902)tCa>tGa	p.S634*	DENND2A_ENST00000496613.1_Nonsense_Mutation_p.S634*|DENND2A_ENST00000537639.1_Nonsense_Mutation_p.S634*|DENND2A_ENST00000492720.1_Nonsense_Mutation_p.S634*			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	634	UDENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TAAGACAAATGAGAATGTTTC	0.473000													3	42					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35759759	35759759	+	Silent	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr5:35759759G>A	ENST00000440995.2	+	25	3543	c.3543G>A	c.(3541-3543)aaG>aaA	p.K1181K	SPEF2_ENST00000356031.3_Silent_p.K1186K|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1186					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGACAACAAGAGATTTACTC	0.393000													6	80					0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75477042	75477042	+	RNA	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr3:75477042G>A	ENST00000459803.1	-	0	396					NR_024241.1																						CGGAGAGTGTGACTGAGCCTC	0.567000													4	25					0	0	1	0	0
RUFY1	80230	broad.mit.edu	37	5	179004088	179004088	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr5:179004088G>C	ENST00000377001.2	+	6	841	c.841G>C	c.(841-843)Gat>Cat	p.D281H	RUFY1_ENST00000393438.2_Missense_Mutation_p.D173H|RUFY1_ENST00000437570.2_Missense_Mutation_p.D173H|RUFY1_ENST00000319449.4_Missense_Mutation_p.D281H			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	281					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGAGTAATAGATTTTTCCCT	0.289000										HNSCC(44;0.11)			9	105					0	0	1	0	0
IFNA4	3441	broad.mit.edu	37	9	21187417	21187417	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr9:21187417C>G	ENST00000421715.1	-	1	181	c.114G>C	c.(112-114)ttG>ttC	p.L38F		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	38					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCAGGAGTATCAAGGCCCTCC	0.517000													6	107					0	0	1	0	0
RGS8	85397	broad.mit.edu	37	1	182617356	182617356	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr1:182617356G>C	ENST00000483095.2	-	6	533	c.276C>G	c.(274-276)ttC>ttG	p.F92L	RGS8_ENST00000367556.1_Missense_Mutation_p.F92L|RGS8_ENST00000367557.4_Missense_Mutation_p.F92L|RGS8_ENST00000258302.4_Missense_Mutation_p.F110L			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	92	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						TGGTCTTCTTGAACTCCTCAC	0.547000													5	238					0	0	1	0	0
VAPA	9218	broad.mit.edu	37	18	9954069	9954069	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr18:9954069G>C	ENST00000400000.2	+	6	866	c.611G>C	c.(610-612)aGa>aCa	p.R204T	VAPA_ENST00000340541.4_Missense_Mutation_p.R249T|VAPA_ENST00000584796.1_3'UTR	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	204					cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity			breast(1)|lung(2)|prostate(1)	4						TTAAGGCTCAGAAAGGTAGCA	0.398000													8	95					0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172641881	172641881	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr2:172641881G>A	ENST00000422440.2	-	18	1977	c.1940C>T	c.(1939-1941)gCa>gTa	p.A647V	SLC25A12_ENST00000392592.4_Missense_Mutation_p.A540V	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	647					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TTCGATGCCTGCAAACGTGGC	0.517000													4	75					0	0	1	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													4	74					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195517216	195517216	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr3:195517216A>T	ENST00000463781.3	-	2	1694	c.1235T>A	c.(1234-1236)cTa>cAa	p.L412Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L412Q|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	417					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	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)		ACTTACAGATAGTGATGTCTC	0.463000													6	100					0	0	1	0	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs140467724	by1000genomes	TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147																											CCCATCTGGTTTTTGAGTTTG	0.547000													5	338					0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	40997226	40997226	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr17:40997226T>G	ENST00000253799.3	+	1	610	c.583T>G	c.(583-585)Ttc>Gtc	p.F195V	AOC2_ENST00000452774.2_Missense_Mutation_p.F195V	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	195					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GTCGTCCACCTTCAACTACAA	0.582000													4	90					0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184026675	184026675	+	Silent	SNP	C	C	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr3:184026675C>G	ENST00000310118.4	+	21	3282	c.2724C>G	c.(2722-2724)ctC>ctG	p.L908L	PSMD2_ENST00000439383.1_Silent_p.L778L|PSMD2_ENST00000435761.1_Silent_p.L749L|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	908				LRKNPNYDL -> FGRTPIMISK (in Ref. 3 and 4).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	ATTATGATCTCTAAGTGACCA	0.537000											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	86					0	0	1	0	0
PDXDC1	23042	broad.mit.edu	37	16	15129938	15129938	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr16:15129938C>G	ENST00000396410.4	+	23	2270	c.2173C>G	c.(2173-2175)Cac>Gac	p.H725D	PDXDC1_ENST00000325823.7_Missense_Mutation_p.H710D|PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000569715.1_Missense_Mutation_p.H698D|PDXDC1_ENST00000450288.2_Missense_Mutation_p.H697D|PDXDC1_ENST00000447912.2_Missense_Mutation_p.H634D|PDXDC1_ENST00000563679.1_Missense_Mutation_p.H743D	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	725					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CTCAGTCAGTCACATTGAAGA	0.567000													10	243					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146264544	146264544	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr6:146264544C>A	ENST00000367503.3	-	9	2371	c.1973G>T	c.(1972-1974)cGc>cTc	p.R658L	SHPRH_ENST00000438092.2_Missense_Mutation_p.R658L|SHPRH_ENST00000275233.7_Missense_Mutation_p.R658L|SHPRH_ENST00000367505.2_Missense_Mutation_p.R658L	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	658					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ACACTCAAAGCGGTAATCAGA	0.418000													4	102					0.150653	0.151619	1	1	0
DLL3	10683	broad.mit.edu	37	19	39998504	39998504	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr19:39998504G>A	ENST00000205143.4	+	8	1715	c.1708G>A	c.(1708-1710)Gac>Aac	p.D570N	DLL3_ENST00000356433.5_Missense_Mutation_p.D570N	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	570					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGAAGATGTAGACCCTCAAGG	0.522000													7	91					0	0	1	0	0
SPRYD4	283377	broad.mit.edu	37	12	56863164	56863164	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr12:56863164G>C	ENST00000338146.5	+	2	502	c.427G>C	c.(427-429)Gag>Cag	p.E143Q		NM_207344.3	NP_997227	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	143	B30.2/SPRY.					nucleus				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						AGCCCCAGTTGAGGGTATTGG	0.572000													5	56					0	0	1	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58194031	58194031	+	Silent	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr3:58194031G>A	ENST00000483681.1	-	4	725	c.144C>T	c.(142-144)gtC>gtT	p.V48V	DNASE1L3_ENST00000486455.1_Silent_p.V48V|DNASE1L3_ENST00000394549.2_Silent_p.V48V|DNASE1L3_ENST00000318316.3_Silent_p.V48V			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	48					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		AGCGTTTGATGACCTGCAAGA	0.423000													8	131					0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128064597	128064597	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr9:128064597G>A	ENST00000470056.1	+	3	681	c.521G>A	c.(520-522)gGa>gAa	p.G174E	GAPVD1_ENST00000495955.1_Missense_Mutation_p.G174E|GAPVD1_ENST00000394104.2_Missense_Mutation_p.G174E|GAPVD1_ENST00000312123.9_Missense_Mutation_p.G174E|GAPVD1_ENST00000265956.4_Missense_Mutation_p.G174E|GAPVD1_ENST00000394105.2_Missense_Mutation_p.G174E|GAPVD1_ENST00000394083.2_Missense_Mutation_p.G174E|GAPVD1_ENST00000394084.1_Missense_Mutation_p.G174E|GAPVD1_ENST00000297933.6_Missense_Mutation_p.G174E			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	174	Ras-GAP.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTGAGGAGAGGAACTTGTGCC	0.393000													6	124					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468297	10468297	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr8:10468297G>A	ENST00000382483.3	-	4	3534	c.3311C>T	c.(3310-3312)tCt>tTt	p.S1104F		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1104					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CATGGGCCTAGACACTTCGGG	0.647000													8	81					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45673649	45673649	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr14:45673649G>C	ENST00000310806.4	-	16	3706	c.3248C>G	c.(3247-3249)aCt>aGt	p.T1083S		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	1083					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGAGAAATCAGTTTCAACCTA	0.363000													3	47					0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42295583	42295583	+	Silent	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr17:42295583G>A	ENST00000302904.4	-	2	507	c.15C>T	c.(13-15)gcC>gcT	p.A5A	UBTF_ENST00000529383.1_Silent_p.A5A|UBTF_ENST00000533177.1_Silent_p.A5A|UBTF_ENST00000526094.1_Silent_p.A5A|UBTF_ENST00000343638.5_Silent_p.A5A|UBTF_ENST00000393606.3_Silent_p.A5A|UBTF_ENST00000527034.1_Silent_p.A5A|UBTF_ENST00000436088.1_Silent_p.A5A|UBTF_ENST00000537550.1_5'UTR			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	5					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGGGGCAGTCGGCTTCTCCGT	0.627000											OREG0024457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	90					0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23641527	23641527	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr16:23641527C>G	ENST00000261584.4	-	5	2100	c.1948G>C	c.(1948-1950)Gag>Cag	p.E650Q		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	650					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.E650K(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CAGCTTCCCTCTTTAAGATGT	0.413000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					9	145					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152083826	152083826	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr1:152083826C>T	ENST00000368804.1	-	2	1866	c.1867G>A	c.(1867-1869)Gag>Aag	p.E623K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	623	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCGGCTCCTCGCGCTTCAGC	0.667000													4	92					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68856020	68856020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr16:68856020C>T	ENST00000261769.5	+	12	2019	c.1828C>T	c.(1828-1830)Cag>Tag	p.Q610*	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Nonsense_Mutation_p.Q549*|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	610	Cadherin 5.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TCCAAAGCCTCAGGTCATAAA	0.483000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				4	87					0	0	1	0	0
NCSTN	23385	broad.mit.edu	37	1	160328014	160328014	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr1:160328014G>C	ENST00000368063.1	+	18	2303	c.2023G>C	c.(2023-2025)Gat>Cat	p.D675H	NCSTN_ENST00000535857.1_Missense_Mutation_p.D557H|NCSTN_ENST00000392212.4_Missense_Mutation_p.D675H|NCSTN_ENST00000368065.4_Missense_Mutation_p.D437H|NCSTN_ENST00000294785.5_Missense_Mutation_p.D695H			Q92542	NICA_HUMAN	nicastrin	695					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCCAAAGCTGATGTCCTTTT	0.552000													6	89					0	0	1	0	0
ZNF280C	55609	broad.mit.edu	37	X	129339310	129339310	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chrX:129339310G>C	ENST00000370978.4	-	17	2275	c.2122C>G	c.(2122-2124)Caa>Gaa	p.Q708E		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GTTTTACGTTGACTTAAGTGT	0.338000													4	26					0	0	1	0	0
FAM105A	54491	broad.mit.edu	37	5	14601153	14601153	+	Silent	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr5:14601153G>A	ENST00000274217.3	+	2	264	c.144G>A	c.(142-144)gtG>gtA	p.V48V		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	48										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					AAGGCTTTGTGATGTTGGCAG	0.438000													5	109					0	0	1	0	0
OR7E91P	79315	broad.mit.edu	37	2	71256928	71256928	+	RNA	SNP	A	A	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr2:71256928A>T	ENST00000434990.1	-	0	61																											TTTCATCTACAGCCTGAGAAA	0.527000													3	23					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200586815	200586815	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr1:200586815G>C	ENST00000367350.4	-	2	1475	c.1037C>G	c.(1036-1038)tCt>tGt	p.S346C		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	346	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTTTCCTGCAGAGGTGTTCTG	0.388000													6	129					0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57829794	57829794	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr4:57829794C>T	ENST00000264230.4	-	7	3156	c.1919G>A	c.(1918-1920)aGa>aAa	p.R640K		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	640							GTP binding										GAGATGCAGTCTGTCCTTAAA	0.423000													5	53					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141248610	141248610	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr3:141248610C>A	ENST00000286364.3	+	4	451	c.416C>A	c.(415-417)tCa>tAa	p.S139*	RASA2_ENST00000452898.1_Nonsense_Mutation_p.S139*			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	139					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ACTTGGTTTTCATTACAGCCT	0.318000													6	109					1.6384e-10	1.74986e-10	1	1	0
E2F3	1871	broad.mit.edu	37	6	20481472	20481472	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr6:20481472A>G	ENST00000346618.3	+	3	607	c.541A>G	c.(541-543)Acg>Gcg	p.T181A	E2F3_ENST00000535432.1_Missense_Mutation_p.T50A	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	181					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			GCGGTATGATACGTCTCTTGG	0.473000													6	80					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195492180	195492180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr3:195492180G>A	ENST00000463781.3	-	9	14218	c.13759C>T	c.(13759-13761)Cag>Tag	p.Q4587*	MUC4_ENST00000349607.4_Nonsense_Mutation_p.Q300*|MUC4_ENST00000475231.1_Nonsense_Mutation_p.Q4535*|MUC4_ENST00000346145.4_Nonsense_Mutation_p.Q351*	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1344					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	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)		CGTCGTCCCTGCTGCCAGGAA	0.647000													4	26					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9256978	9256978	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr18:9256978C>G	ENST00000262126.4	+	9	3953	c.3713C>G	c.(3712-3714)tCa>tGa	p.S1238*	ANKRD12_ENST00000383440.2_Nonsense_Mutation_p.S1215*|ANKRD12_ENST00000400020.3_Nonsense_Mutation_p.S1215*	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TTAGAGAGTTCAGAATCCCAA	0.453000													4	74					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5774009	5774009	+	Silent	SNP	C	C	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr9:5774009C>T	ENST00000414202.2	+	26	4226	c.4035C>T	c.(4033-4035)ctC>ctT	p.L1345L	KIAA1432_ENST00000449720.2_Silent_p.L1229L|KIAA1432_ENST00000418622.3_Silent_p.L1266L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1345						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGCAGAAGCTCAGTGAGATAA	0.443000													5	50					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26816713	26816713	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr12:26816713C>G	ENST00000381340.3	-	15	2034	c.1618G>C	c.(1618-1620)Gat>Cat	p.D540H		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	540					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCCCCCAGATCTTCAAGTCTC	0.463000													10	289					0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12541868	12541868	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr19:12541868C>T	ENST00000301547.5	-	4	1315	c.1118G>A	c.(1117-1119)gGc>gAc	p.G373D	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	373					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						ACAATCAAAGCCTTTCCCACA	0.428000													12	206					0	0	1	0	0
PDCD7	10081	broad.mit.edu	37	15	65412251	65412251	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr15:65412251G>A	ENST00000204549.4	-	3	1105	c.1051C>T	c.(1051-1053)Cat>Tat	p.H351Y		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	351					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						CGCTGAAGATGATGCGTAAAA	0.443000													4	160					0	0	1	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101447391	101447391	+	RNA	SNP	T	T	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr14:101447391T>A	ENST00000554693.2	+	0	635				SNORD114-20_ENST00000365178.1_RNA																							AGTGAATACGTCTCTGGAACT	0.403000													9	108					0	0	1	0	0
MASTL	84930	broad.mit.edu	37	10	27459686	27459686	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr10:27459686G>C	ENST00000375946.4	+	8	2401	c.1798G>C	c.(1798-1800)Gaa>Caa	p.E600Q	MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375940.4_Missense_Mutation_p.E600Q|MASTL_ENST00000342386.6_Missense_Mutation_p.E600Q	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	600	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity	p.E600K(1)		breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCCTCTTTTGAAGAATCAAA	0.373000													4	50					0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107398861	107398861	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr7:107398861C>G	ENST00000440859.3	+	6	1181	c.714C>G	c.(712-714)atC>atG	p.I238M	CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Missense_Mutation_p.I237M	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase		Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						AGCAGCACATCATGATGCCAC	0.493000													5	90					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26436456	26436456	+	Silent	SNP	C	C	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr13:26436456C>T	ENST00000381655.2	+	33	3235	c.3093C>T	c.(3091-3093)gtC>gtT	p.V1031V	ATP8A2_ENST00000255283.8_Silent_p.V966V|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	991					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ATCTGGCTGTCTGGGGAAGCA	0.527000													6	45					0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29444610	29444610	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr18:29444610C>G	ENST00000283351.4	-	19	3060	c.2725G>C	c.(2725-2727)Gaa>Caa	p.E909Q	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.E855Q	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	909					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGCATTTCTTCTGTGATTATG	0.333000													5	68					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120598530	120598530	+	Silent	SNP	A	A	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr8:120598530A>G	ENST00000427067.2	-	15	1431	c.1251T>C	c.(1249-1251)ttT>ttC	p.F417F	ENPP2_ENST00000075322.6_Silent_p.F421F|ENPP2_ENST00000522167.1_Silent_p.F60F|ENPP2_ENST00000259486.6_Silent_p.F473F|ENPP2_ENST00000522826.1_Silent_p.F421F			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	421					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGTAAGGCTTAAAGTGCTGAT	0.378000													4	61					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr17:37868208C>T	ENST00000406381.2	+	10	1349	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			7	193					0	0	1	0	0
DDI2	84301	broad.mit.edu	37	1	15978264	15978264	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr1:15978264C>G	ENST00000480945.1	+	8	1228	c.1057C>G	c.(1057-1059)Ctt>Gtt	p.L353V		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	353					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GACCACCTTTCTTCCTGAGGG	0.493000													4	42					0	0	1	0	0
BRD7	29117	broad.mit.edu	37	16	50353921	50353921	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr16:50353921G>C	ENST00000394688.3	-	16	1936	c.1777C>G	c.(1777-1779)Ctt>Gtt	p.L593V	BRD7_ENST00000394689.2_Missense_Mutation_p.L594V			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	593					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				AGTTCTTTAAGATTATTGGTC	0.398000													4	60					0	0	1	0	0
FIS1	51024	broad.mit.edu	37	7	100884114	100884114	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr7:100884114G>C	ENST00000474120.1	-	2	495	c.88C>G	c.(88-90)Caa>Gaa	p.Q30E	FIS1_ENST00000442303.1_Missense_Mutation_p.Q61E|FIS1_ENST00000223136.4_Silent_p.L84L|FIS1_ENST00000482199.1_5'UTR			Q9Y3D6	FIS1_HUMAN	fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)	0					apoptosis|mitochondrial fission|peroxisome fission	integral to mitochondrial outer membrane|integral to peroxisomal membrane	protein binding			kidney(1)|large_intestine(2)|lung(1)	4	Lung NSC(181;0.168)|all_lung(186;0.215)					ACCTCACCTTGAGCCGGTAGT	0.632000													6	85					0	0	1	0	0
PARP3	10039	broad.mit.edu	37	3	51979099	51979099	+	Silent	SNP	G	G	C			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr3:51979099G>C	ENST00000417220.2	+	7	1208	c.720G>C	c.(718-720)ctG>ctC	p.L240L	PARP3_ENST00000398755.3_Silent_p.L247L|PARP3_ENST00000431474.1_Silent_p.L240L			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	240	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGAGGCCCTGAAAGGCCCCA	0.617000													5	80					0	0	1	0	0
MCM3	4172	broad.mit.edu	37	6	52131427	52131427	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr6:52131427C>T	ENST00000596288.1	-	15	2302	c.2275G>A	c.(2275-2277)Gag>Aag	p.E759K	MCM3_ENST00000419835.2_Missense_Mutation_p.E668K|MCM3_ENST00000229854.7_Missense_Mutation_p.E714K	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	714					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					ATTTCCTCCTCTGTGTCACTG	0.463000													10	269					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48391689	48391689	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr12:48391689C>A	ENST00000380518.3	-	6	558	c.394G>T	c.(394-396)Gga>Tga	p.G132*	COL2A1_ENST00000337299.6_Nonsense_Mutation_p.G63*	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	132					axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCTCTGGGTCCTTGTTCCCCT	0.562000													7	164					8.12818e-05	8.5646e-05	1	1	0
GPC6	10082	broad.mit.edu	37	13	94482624	94482624	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr13:94482624G>T	ENST00000377047.4	+	3	1152	c.537G>T	c.(535-537)caG>caT	p.Q179H	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	179						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TAAACCCTCAGTATCACTTCA	0.478000													4	63					0.000602214	0.000630318	1	1	0
TMEM8C	389827	broad.mit.edu	37	9	136384127	136384127	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr9:136384127C>T	ENST00000339996.3	-	3	369	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	90						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						CTCTTGGGTTCGTCGAAGTCG	0.642000													8	111					0	0	1	0	0
MTA1	9112	broad.mit.edu	37	14	105936422	105936422	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr14:105936422C>A	ENST00000331320.7	+	21	2232	c.2018C>A	c.(2017-2019)tCa>tAa	p.S673*	MTA1_ENST00000406191.1_Nonsense_Mutation_p.S661*|MTA1_ENST00000435036.2_Nonsense_Mutation_p.S213*|RP11-521B24.5_ENST00000552675.1_RNA|MTA1_ENST00000405646.1_Nonsense_Mutation_p.S656*	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	673					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		AAGCTGCTCTCATCCTCGGAA	0.726000													4	31					0.014758	0.0151438	1	1	0
FER1L5	90342	broad.mit.edu	37	2	97364481	97364482	+	RNA	INS	-	-	AG			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr2:97364481_97364482insAG	ENST00000457909.1	+	0	3933_3934							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TTGGTTTGGCCAGAGAGAGAGG	0.604													2	4	---	---	---	---					
FAM86EP	348926	broad.mit.edu	37	4	3951121	3951122	+	RNA	INS	-	-	TGTC	rs35568143		TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr4:3951121_3951122insTGTC	ENST00000281228.8	-	0	344				FAM86EP_ENST00000313946.8_RNA																							cgttttcACTTTGTGCAGGAAG	0.515													4	8	---	---	---	---					
VKORC1L1	154807	broad.mit.edu	37	7	65419353	65419354	+	In_Frame_Ins	INS	-	-	TTA	rs71982071		TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr7:65419353_65419354insTTA	ENST00000434382.2	+	2	490_491	c.487_488insTTA	c.(487-489)ttt>tTTAtt	p.171_172insI	VKORC1L1_ENST00000360768.3_3'UTR			Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit 1-like 1	0						integral to membrane				large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	GCAGCAGGTTTttattattatt	0.416													2	4	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100369720	100369721	+	RNA	INS	-	-	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr7:100369720_100369721insT	ENST00000542585.1	+	0	5573				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			cctctaaattcttttttttttt	0.535													3	3	---	---	---	---					
OR5D13	390142	broad.mit.edu	37	11	55541134	55541135	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr11:55541134_55541135insT	ENST00000361760.1	+	1	221_222	c.221_222insT	c.(220-225)tgttttfs	p.CF74fs		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACAGACTTCTGTTTTTCCACTG	0.391													10	120	---	---	---	---					
RTL1	388015	broad.mit.edu	37	14	101350670	101350671	+	In_Frame_Ins	INS	-	-	TCT	rs55755518	by1000genomes	TCGA-XF-A9SL-01A-11D-A391-08	TCGA-XF-A9SL-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3742cd49-ae0a-45a6-9243-4bb7dd70bae6	718f9fcb-ce69-4962-9d2c-252e18fc170e	g.chr14:101350670_101350671insTCT	ENST00000534062.1	-	1	513_514	c.455_456insAGA	c.(454-456)gag>gaAGAg	p.152_152E>EE		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	152										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCTGGTTTTGCTCTTGAGGAGT	0.520													3	3	---	---	---	---