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
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr17:7578394T>G	ENST00000420246.2	-	5	668	c.536A>C	c.(535-537)cAt>cCt	p.H179P	TP53_ENST00000413465.2_Missense_Mutation_p.H179P|TP53_ENST00000455263.2_Missense_Mutation_p.H179P|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.H179P|TP53_ENST00000445888.2_Missense_Mutation_p.H179P|TP53_ENST00000359597.4_Missense_Mutation_p.H179P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCTCATGGTGGGGGCA	0.642000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	37					0	0	0.520397	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070116	141070116	+	RNA	SNP	G	G	A	rs142836124	by1000genomes	TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr9:141070116G>A	ENST00000503395.1	+	0	1196																		p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687000													5	81					0	0	0.217242	0	0
IGFBP5	3488	broad.mit.edu	37	2	217543684	217543684	+	Silent	SNP	C	C	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:217543684C>T	ENST00000233813.4	-	2	1205	c.456G>A	c.(454-456)gtG>gtA	p.V152V		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	152					negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCCTTCTTCACTGCTTCAG	0.597000													29	37					0	0	0.717897	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985590	140985590	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chrX:140985590T>C	ENST00000298296.1	+	8	1904	c.1904T>C	c.(1903-1905)gTc>gCc	p.V635A	MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000409007.1_3'UTR|MAGEC3_ENST00000536088.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	635	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCCAGTGTCATGTCCACC	0.517000													24	43					0	0	0.681144	0	0
MFN1	55669	broad.mit.edu	37	3	179080166	179080166	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr3:179080166T>A	ENST00000471841.1	+	5	558	c.432T>A	c.(430-432)caT>caA	p.H144Q	MFN1_ENST00000263969.5_Missense_Mutation_p.H144Q|MFN1_ENST00000280653.7_Missense_Mutation_p.H144Q	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	144					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AACTGGCCCATGCCCTTCACA	0.368000													47	34					0	0	0.864702	0	0
MUC16	94025	broad.mit.edu	37	19	9085093	9085093	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr19:9085093G>T	ENST00000397910.4	-	1	6925	c.6722C>A	c.(6721-6723)tCa>tAa	p.S2241*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2241	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCCCCATCTGAAGGTGTGTC	0.468000													13	24					0.000151284	0.000162702	0.435327	1	0
C1orf159	54991	broad.mit.edu	37	1	1019763	1019763	+	Splice_Site	SNP	C	C	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr1:1019763C>T	ENST00000448924.1	-	10	1011	c.579_splice	c.e10-1	p.A194_splice	C1orf159_ENST00000421241.2_Splice_Site_p.A158_splice|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000379339.1_Splice_Site_p.A194_splice|C1orf159_ENST00000379320.1_Splice_Site_p.A158_splice|C1orf159_ENST00000294576.5_Splice_Site_p.A158_splice|C1orf159_ENST00000379319.1_Splice_Site_p.A158_splice			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	194						integral to membrane						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		ATCATTGCAGCCTTGAAAAGG	0.622000													7	16					0	0	0.248553	0	0
CWC22	57703	broad.mit.edu	37	2	180830667	180830667	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:180830667T>C	ENST00000410053.3	-	12	1552	c.1253A>G	c.(1252-1254)gAt>gGt	p.D418G	CWC22_ENST00000295749.6_Missense_Mutation_p.D418G	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	418						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						ACTCCCAGCATCCTGGTCTGT	0.363000													11	29					0	0	0.457914	0	0
SCN2A	6326	broad.mit.edu	37	2	166245201	166245201	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:166245201C>T	ENST00000375437.2	+	27	5175	c.4885C>T	c.(4885-4887)Cgt>Tgt	p.R1629C	SCN2A_ENST00000375427.2_Missense_Mutation_p.R1629C|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1629C|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1629C	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1629					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CCGAGTGATCCGTCTTGCCAG	0.433000													19	59					0	0	0.654019	0	0
CEP120	153241	broad.mit.edu	37	5	122725742	122725742	+	Silent	SNP	C	C	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr5:122725742C>T	ENST00000306467.5	-	8	1435	c.1131G>A	c.(1129-1131)ggG>ggA	p.G377G	CEP120_ENST00000306481.6_Silent_p.G351G|CEP120_ENST00000328236.5_Silent_p.G377G			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	377						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GTGATTTTGGCCCAGTAAGTG	0.393000													3	41					0	0	0.115264	0	0
SLIT2	9353	broad.mit.edu	37	4	20544192	20544192	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr4:20544192G>A	ENST00000504154.1	+	21	2471	c.2219G>A	c.(2218-2220)tGt>tAt	p.C740Y	SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Missense_Mutation_p.C736Y|SLIT2_ENST00000273739.5_Missense_Mutation_p.C744Y|SLIT2_ENST00000503823.1_Missense_Mutation_p.C732Y	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	740	LRRNT 4.				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						GTCGTCCGATGTAGCAACAAG	0.418000													91	158					0	0	0.870114	0	0
TFRC	7037	broad.mit.edu	37	3	195789750	195789750	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr3:195789750G>A	ENST00000360110.4	-	12	1548	c.1379C>T	c.(1378-1380)tCg>tTg	p.S460L	TFRC_ENST00000420415.1_Missense_Mutation_p.S379L|TFRC_ENST00000465288.1_5'UTR|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.S178L|TFRC_ENST00000392396.3_Missense_Mutation_p.S460L	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	460					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		GGCACCAACCGATCCAAAGTC	0.448000			T	BCL6	NHL								26	53					0	0	0.706142	0	0
NOTCH1	4851	broad.mit.edu	37	9	139397707	139397707	+	Silent	SNP	G	G	A	rs10521	by1000genomes	TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr9:139397707G>A	ENST00000277541.6	-	27	5169	c.5094C>T	c.(5092-5094)gaC>gaT	p.D1698D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1698					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.D1699D(11)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATGCGGCCACGTCGGTGGCAC	0.632000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			3	51					0	0	0.115264	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994879	140994879	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chrX:140994879C>G	ENST00000285879.4	+	4	1975	c.1689C>G	c.(1687-1689)taC>taG	p.Y563*	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	563							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCACTACTTTCCTCAGA	0.572000										HNSCC(15;0.026)			12	457					0	0	0.411799	0	0
FRY	10129	broad.mit.edu	37	13	32783208	32783208	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr13:32783208T>C	ENST00000380250.3	+	32	4733	c.4237T>C	c.(4237-4239)Tca>Cca	p.S1413P		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGAAGCCACGTCACTGGTCCT	0.542000													29	23					0	0	0.760397	0	0
SLC25A22	79751	broad.mit.edu	37	11	791950	791950	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr11:791950A>G	ENST00000320230.5	-	10	1418	c.937T>C	c.(937-939)Tcc>Ccc	p.S313P	SLC25A22_ENST00000531214.1_Missense_Mutation_p.S313P	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	313						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	CCCAGCAGGGACTCCGCGATG	0.716000													12	15					0	0	0.479597	0	0
PPP4C	5531	broad.mit.edu	37	16	30096327	30096327	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr16:30096327C>T	ENST00000279387.7	+	9	1036	c.868C>T	c.(868-870)Ccc>Tcc	p.P290S	PPP4C_ENST00000561610.1_Missense_Mutation_p.P290S	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	290					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						TGAGGCTGCTCCCCAAGAGAC	0.632000													41	67					0	0	0.859065	0	0
GSK3A	2931	broad.mit.edu	37	19	42740862	42740862	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr19:42740862C>A	ENST00000398249.4	-	3	2029	c.316G>T	c.(316-318)Gag>Tag	p.E106*	AC006486.9_ENST00000594664.1_Nonsense_Mutation_p.E101*|GSK3A_ENST00000222330.3_Nonsense_Mutation_p.E188*			P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	188					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity	p.E188*(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				AGGTAAAGCTCGTCTTTCTGC	0.562000													4	90					0.150653	0.156132	0.150653	1	0
KCNJ1	3758	broad.mit.edu	37	11	128710112	128710112	+	Silent	SNP	G	G	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr11:128710112G>A	ENST00000392665.2	-	2	171	c.27C>T	c.(25-27)gtC>gtT	p.V9V	KCNJ1_ENST00000324036.3_Silent_p.V9V|KCNJ1_ENST00000392664.2_Silent_p.V28V|KCNJ1_ENST00000392666.1_Silent_p.V9V|KCNJ1_ENST00000440599.2_Silent_p.V9V	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	28					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	AGCGAGTGACGACCCATTTCC	0.408000													36	122					0	0	0.796494	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69341983	69341983	+	Silent	SNP	C	C	T	rs138790575	byFrequency	TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr4:69341983C>T	ENST00000305363.4	+	7	598	c.534C>T	c.(532-534)tgC>tgT	p.C178C		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	178					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTGCAGGCTGCGGAACACGAA	0.488000													48	78					0	0	0.870114	0	0
LRP1B	53353	broad.mit.edu	37	2	141806669	141806669	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:141806669G>A	ENST00000389484.3	-	11	2646	c.1675C>T	c.(1675-1677)Cgt>Tgt	p.R559C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	559					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTAAAGCACGAGGGTTTACC	0.433000										TSP Lung(27;0.18)			42	111					0	0	0.870114	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	by1000genomes	TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA														p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537000													3	36					0	0	0.150653	0	0
ITGA7	3679	broad.mit.edu	37	12	56079057	56079057	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr12:56079057G>A	ENST00000257879.6	-	25	3414	c.3199C>T	c.(3199-3201)Cgg>Tgg	p.R1067W	ITGA7_ENST00000553804.1_Missense_Mutation_p.R1071W|ITGA7_ENST00000452168.2_Missense_Mutation_p.R974W|ITGA7_ENST00000394229.2_Silent_p.N1104N|ITGA7_ENST00000257880.7_Silent_p.N1148N|ITGA7_ENST00000394230.2_Silent_p.N1108N|ITGA7_ENST00000347027.6_Missense_Mutation_p.R1061W|ITGA7_ENST00000555728.1_Missense_Mutation_p.R1111W	NM_002206.2	NP_002197.2	Q13683	ITA7_HUMAN	integrin, alpha 7	1111					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGCTTCGCCCGTTTGAAGAAT	0.607000													17	26					0	0	0.592651	0	0
TTN	7273	broad.mit.edu	37	2	179596537	179596537	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:179596537C>A	ENST00000589042.1	-	58	17289	c.17065G>T	c.(17065-17067)Gat>Tat	p.D5689Y	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4445Y|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D5372Y|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5372	Ig-like 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCAGATGATCCTGAATGAAA	0.502000													38	97					6.33695e-27	7.08247e-27	0.834066	1	0
FAM86DP	692099	broad.mit.edu	37	3	75476735	75476735	+	RNA	SNP	C	C	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr3:75476735C>T	ENST00000459803.1	-	0	621					NR_024241.1													p.E194E(3)									CTCGGAGCTGCTCGAGGACCC	0.602000													3	37					0	0	0.115264	0	0
HCAR3	8843	broad.mit.edu	37	12	123200127	123200127	+	Silent	SNP	G	G	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr12:123200127G>A	ENST00000528880.2	-	1	1312	c.1158C>T	c.(1156-1158)atC>atT	p.I386I	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	386						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	GACATTACTCGATGCAACAGC	0.488000													37	73					0	0	0.847076	0	0
CARKD	55739	broad.mit.edu	37	13	111279875	111279875	+	Missense_Mutation	SNP	C	C	T	rs143742316		TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr13:111279875C>T	ENST00000309957.2	+	5	490	c.476C>T	c.(475-477)gCg>gTg	p.A159V	CARKD_ENST00000424185.2_Missense_Mutation_p.A49V|CARKD_ENST00000397191.4_Missense_Mutation_p.A96V|CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000458711.2_Intron	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	159	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						AGAGATGATGCGCTTCTCAGA	0.507000													3	49					0	0	0.115264	0	0
EPHB4	2050	broad.mit.edu	37	7	100420084	100420084	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr7:100420084C>T	ENST00000358173.3	-	4	1085	c.617G>A	c.(616-618)cGa>cAa	p.R206Q	EPHB4_ENST00000360620.3_Missense_Mutation_p.R206Q|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	206	Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTCCGGGAATCGAGTCAGGTT	0.652000													5	14					0	0	0.217242	0	0
ERCC3	2071	broad.mit.edu	37	2	128046236	128046236	+	Splice_Site	SNP	C	C	T	rs138897577		TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:128046236C>T	ENST00000493187.2	-	7	1298	c.835_splice	c.e7+1	p.G279_splice	ERCC3_ENST00000285398.2_Splice_Site_p.G343_splice			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	343					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TACCACTTACCGCAGGGAAGA	0.532000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				138	291					0	0	0.870114	0	0
KCNN2	3781	broad.mit.edu	37	5	113829157	113829157	+	Silent	SNP	G	G	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr5:113829157G>A	ENST00000512097.3	+	8	2458	c.1440G>A	c.(1438-1440)gtG>gtA	p.V480V	KCNN2_ENST00000264773.3_Silent_p.V480V|KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000503706.1_Silent_p.V132V|RP11-492A10.1_ENST00000514115.1_RNA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	480	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		ACACTTTGGTGGACTTGGCAA	0.408000													8	19					0	0	0.278610	0	0
PCDH17	27253	broad.mit.edu	37	13	58206802	58206802	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr13:58206802A>C	ENST00000377918.3	+	1	148	c.122A>C	c.(121-123)gAt>gCt	p.D41A		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	41	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATCGGCAGGGATGCTCGACTG	0.662000													3	25					0	0	0.115264	0	0
ASB5	140458	broad.mit.edu	37	4	177136850	177136850	+	Silent	SNP	G	G	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr4:177136850G>A	ENST00000296525.3	-	7	1004	c.891C>T	c.(889-891)tgC>tgT	p.C297C	ASB5_ENST00000512254.1_Silent_p.C244C	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	297	SOCS box.				intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TACAGAGTCGGCAAAGTTGGT	0.358000													3	30					0	0	0.150653	0	0
CNBD1	168975	broad.mit.edu	37	8	87917339	87917339	+	Silent	SNP	C	C	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr8:87917339C>T	ENST00000518476.1	+	3	240	c.189C>T	c.(187-189)caC>caT	p.H63H		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	63										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TATCAGCTCACGATACATTTA	0.343000													6	20					0	0	0.217242	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216210	20216210	+	Silent	SNP	T	T	C			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr14:20216210T>C	ENST00000331723.1	+	1	624	c.624T>C	c.(622-624)tcT>tcC	p.S208S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTCTGCTGTCTCTTGTCTGCT	0.493000													18	39					0	0	0.520397	0	0
MAGEB2	4113	broad.mit.edu	37	X	30236705	30236705	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chrX:30236705G>A	ENST00000378988.4	+	2	109	c.8G>A	c.(7-9)cGt>cAt	p.R3H		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	3							protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						ATCATGCCTCGTGGTCAGAAG	0.527000													28	5					0	0	0.729181	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255408	140255408	+	Silent	SNP	C	C	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr5:140255408C>T	ENST00000398631.2	+	1	351	c.351C>T	c.(349-351)ttC>ttT	p.F117F	PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTTTTCCATGTGGACG	0.562000													6	133					0	0	0.217242	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57871047	57871047	+	Silent	SNP	A	A	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr12:57871047A>T	ENST00000393797.2	-	8	1167	c.975T>A	c.(973-975)ccT>ccA	p.P325P	ARHGAP9_ENST00000356411.2_Silent_p.P254P|ARHGAP9_ENST00000550288.1_Silent_p.P333P|ARHGAP9_ENST00000430041.2_Silent_p.P70P|ARHGAP9_ENST00000424809.2_Silent_p.P254P|ARHGAP9_ENST00000393791.3_Silent_p.P254P|ARHGAP9_ENST00000550454.1_5'UTR			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	254	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CCATGGAGCCAGGGTTCTGGG	0.527000													14	36					0	0	0.457914	0	0
IGLC7	28834	broad.mit.edu	37	22	23264803	23264803	+	RNA	SNP	A	A	G			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr22:23264803A>G	ENST00000390331.1	+	0	38																											CTCTGTTCCCACCCTCCTCTG	0.637000													3	35					0	0	0.115264	0	0
SLC47A1	55244	broad.mit.edu	37	17	19459314	19459314	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr17:19459314T>C	ENST00000270570.4	+	10	946	c.860T>C	c.(859-861)cTc>cCc	p.L287P	SLC47A1_ENST00000436810.2_Missense_Mutation_p.L264P|SLC47A1_ENST00000395585.1_Missense_Mutation_p.L287P|SLC47A1_ENST00000542886.1_3'UTR|SLC47A1_ENST00000457293.1_Missense_Mutation_p.L287P|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000571335.1_Missense_Mutation_p.L92P	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	287						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					CCAGGCATCCTCGGCATGGTG	0.592000													21	31					0	0	0.639603	0	0
NEMF	9147	broad.mit.edu	37	14	50255970	50255970	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr14:50255970C>T	ENST00000298310.5	-	28	3238	c.2789G>A	c.(2788-2790)aGa>aAa	p.R930K	NEMF_ENST00000545773.1_Missense_Mutation_p.R888K|NEMF_ENST00000546046.1_Missense_Mutation_p.R909K|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000382135.2_Missense_Mutation_p.R130K			O60524	NEMF_HUMAN	nuclear export mediator factor	930						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CTGTCCACCTCTAGGTTTCTG	0.413000													46	101					0	0	0.859065	0	0
G6PD	2539	broad.mit.edu	37	X	153763390	153763390	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chrX:153763390T>G	ENST00000393562.2	-	5	951	c.568A>C	c.(568-570)Agc>Cgc	p.S190R	G6PD_ENST00000497281.1_5'UTR|G6PD_ENST00000393564.2_Missense_Mutation_p.S160R|G6PD_ENST00000369620.2_Missense_Mutation_p.S160R	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	160					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACATCTGGCTCATGCAGGAC	0.652000													43	40					0	0	0.859065	0	0
PCDHA4	56144	broad.mit.edu	37	5	140189040	140189040	+	Silent	SNP	G	G	A	rs146943849	byFrequency	TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr5:140189040G>A	ENST00000530339.1	+	1	2268	c.2268G>A	c.(2266-2268)ccG>ccA	p.P756P	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.P756P|PCDHA4_ENST00000356878.4_Silent_p.P756P|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAGGCCGAGGGTGTGCT	0.652000													4	56					0	0	0.150653	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655955	40655955	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:40655955T>C	ENST00000406785.1	-	2	1655	c.1466A>G	c.(1465-1467)gAa>gGa	p.E489G	SLC8A1_ENST00000542756.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E489G|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E489G|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000403092.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E489G|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E489G			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	489	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAGGAAATTTTCATCCTCCTC	0.408000													24	43					0	0	0.654019	0	0
RBP3	5949	broad.mit.edu	37	10	48383918	48383918	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr10:48383918delG	ENST00000224600.4	-	3	3427	c.3314delC	c.(3313-3315)cafs	p.P1105fs		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1105	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CAGCAGAACTGGAGGGCCTTC	0.537													25	48	---	---	---	---					
KRT5	3852	broad.mit.edu	37	12	52911705	52911706	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr12:52911705_52911706insT	ENST00000252242.4	-	4	1292_1293	c.902_903insA	c.(901-903)attfs	p.I301fs		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	301	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTTCATGAAGTTAATCTCATC	0.421													39	78	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671273	25671273	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr13:25671273delG	ENST00000281589.3	+	1	974	c.937delG	c.(937-939)cgfs	p.A313fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	313	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCTCCGGAAAGCGTTTTCTCC	0.408													7	184	---	---	---	---					
PPM1E	22843	broad.mit.edu	37	17	56833457	56833458	+	In_Frame_Ins	INS	-	-	GAACCC	rs72376816	by1000genomes	TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr17:56833457_56833458insGAACCC	ENST00000308249.2	+	1	228_229	c.99_100insGAACCC	c.(97-102)ccaacc>ccGAACCCaacc	p.32_33insPN		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	32	11 X 2 AA tandem repeats of P-E.|Glu-rich.|Pro-rich.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			agccggagccggaacccgaacc	0.673													6	13	---	---	---	---					
