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
TULP1	7287	broad.mit.edu	37	6	35473554	35473554	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr6:35473554A>G	ENST00000229771.6	-	11	1155	c.1076T>C	c.(1075-1077)cTg>cCg	p.L359P	TULP1_ENST00000322263.4_Missense_Mutation_p.L306P	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	359					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TCCTCGGGACAGATTGGTAGG	0.577000													24	26					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51189611	51189611	+	Splice_Site	SNP	G	G	T			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr19:51189611G>T	ENST00000293441.1	-	20	2478	c.2458_splice	c.e20-1	p.N820_splice	SHANK1_ENST00000359082.3_Splice_Site_p.N811_splice|SHANK1_ENST00000391814.1_Splice_Site_p.N828_splice|SHANK1_ENST00000391813.1_Splice_Site_p.N207_splice	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	820					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGTCCAGTTTGTCTAGGGGTA	0.572000													21	47					2.98393e-07	3.04483e-07	1	1	0
PCSK7	9159	broad.mit.edu	37	11	117094847	117094847	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr11:117094847T>C	ENST00000320934.3	-	8	1631	c.1001A>G	c.(1000-1002)aAc>aGc	p.N334S	PCSK7_ENST00000540028.1_5'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	334	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GCAGTTGTCGTTGTGTTGGCC	0.547000			T	IGH@	MLCLS								4	56					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47855938	47855938	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr21:47855938G>A	ENST00000359568.5	+	39	8980	c.8873G>A	c.(8872-8874)cGc>cAc	p.R2958H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2958					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGTTCTGCCCGCAGGGCTGCC	0.652000													5	106					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30991489	30991489	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr16:30991489A>G	ENST00000262519.8	+	14	5068	c.4382A>G	c.(4381-4383)aAc>aGc	p.N1461S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1461	Interaction with ASH2L, RBBP5 and WDR5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GACTGGCTCAACGACACTCAC	0.612000													9	18					0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62265588	62265588	+	Silent	SNP	G	G	A			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr17:62265588G>A	ENST00000258991.3	-	5	2469	c.2385C>T	c.(2383-2385)agC>agT	p.S795S	TEX2_ENST00000584379.1_Silent_p.S788S|TEX2_ENST00000583097.1_Silent_p.S788S			Q8IWB9	TEX2_HUMAN	testis expressed 2	788					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GGGGGCTTCGGCTTTCCTGGG	0.602000													32	51					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49081163	49081163	+	Silent	SNP	C	C	A			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr15:49081163C>A	ENST00000380950.2	-	9	1195	c.1008G>T	c.(1006-1008)ctG>ctT	p.L336L	CEP152_ENST00000399334.3_Silent_p.L336L|CEP152_ENST00000325747.5_Silent_p.L243L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	336					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCAAGCTTTCCAGAGCCATTT	0.413000													33	62					6.00712e-18	6.25742e-18	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51892687	51892687	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr6:51892687G>A	ENST00000371117.3	-	31	3843	c.3568C>T	c.(3568-3570)Ctc>Ttc	p.L1190F	PKHD1_ENST00000340994.4_Missense_Mutation_p.L1190F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1190	IPT/TIG 6; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGATGTGGAGATCAACCCTA	0.443000													17	13					0	0	1	0	0
AC006293.3	0	broad.mit.edu	37	19	55221837	55221837	+	RNA	SNP	G	G	C			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr19:55221837G>C	ENST00000413439.1	+	0	1415																											CTGGGGAGGTGTCAGCTCAGA	0.632000													4	32					0	0	1	0	0
LRFN4	78999	broad.mit.edu	37	11	66626537	66626537	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr11:66626537G>A	ENST00000309602.4	+	1	1565	c.1322G>A	c.(1321-1323)aGc>aAc	p.S441N	PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	441	Fibronectin type-III.					integral to membrane				breast(1)|lung(1)|prostate(1)	3						CAGTACAACAGCAGCGAAGAT	0.662000													30	60					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194080125	194080125	+	Missense_Mutation	SNP	C	C	T	rs115716405	byFrequency	TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr3:194080125C>T	ENST00000347624.3	-	2	1733	c.1648G>A	c.(1648-1650)Gcc>Acc	p.A550T	LRRC15_ENST00000428839.1_Missense_Mutation_p.A556T|LRRC15_ENST00000439944.2_Missense_Mutation_p.A556T	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	550						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CAGGCCAGGGCGACAATGCCA	0.582000													4	67					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78343413	78343413	+	Silent	SNP	T	T	C			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr17:78343413T>C	ENST00000582970.1	+	45	12410	c.12267T>C	c.(12265-12267)atT>atC	p.I4089I	RNF213_ENST00000336301.6_Silent_p.I2162I|RNF213_ENST00000508628.2_Silent_p.I4138I|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGAAGTGATTGAGAGCCTGC	0.517000													31	57					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		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	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	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)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	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				23	53					0	0	1	0	0
RGR	5995	broad.mit.edu	37	10	86014089	86014089	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr10:86014089A>T	ENST00000359452.4	+	5	570	c.532A>T	c.(532-534)Acc>Tcc	p.T178S	RGR_ENST00000358110.5_Missense_Mutation_p.T174S	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	174					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TAGAAACTTCACCAGCTTCCT	0.552000													32	45					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612219	16612219	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr17:16612219G>A	ENST00000443444.2	+	5	988	c.848G>A	c.(847-849)gGc>gAc	p.G283D	CCDC144A_ENST00000399273.1_Missense_Mutation_p.G283D|CCDC144A_ENST00000360524.8_Missense_Mutation_p.G283D|CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000340621.5_Missense_Mutation_p.G282D|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.G283D			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	283																	ATTGAACAAGGCAAATTAGAG	0.363000													24	32					0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26537317	26537317	+	Missense_Mutation	SNP	T	T	C	rs150700942	byFrequency	TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr2:26537317T>C	ENST00000333478.6	-	4	1082	c.500A>G	c.(499-501)tAc>tGc	p.Y167C	GPR113_ENST00000421160.2_Missense_Mutation_p.Y297C|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Intron|GPR113_ENST00000311519.1_Missense_Mutation_p.Y366C	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	366					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCGCGGTGTAGGCCAGGTT	0.637000													5	63					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16475507	16475507	+	Silent	SNP	C	C	T	rs144914242	by1000genomes	TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr1:16475507C>T	ENST00000358432.5	-	3	343	c.189G>A	c.(187-189)ccG>ccA	p.P63P	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	63					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACATGTAGATCGGCATGTCAT	0.562000													4	68					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41058005	41058005	+	Splice_Site	SNP	T	T	C			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chrX:41058005T>C	ENST00000324545.7	+	30	5236		c.e30+2		USP9X_ENST00000378308.2_Splice_Site	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAATAACTAGTAAGTATTTTT	0.294000													10	16					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10443979	10443979	+	Missense_Mutation	SNP	G	G	C	rs138162020		TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr17:10443979G>C	ENST00000245503.5	-	11	1324	c.940C>G	c.(940-942)Cca>Gca	p.P314A	MYH2_ENST00000397183.2_Missense_Mutation_p.P314A|MYH2_ENST00000532183.1_Missense_Mutation_p.P314A|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	314	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.P314S(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGACAAATGGGTAATCATAT	0.363000													8	44					0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80638351	80638351	+	Silent	SNP	G	G	C			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr16:80638351G>C	ENST00000299564.8	-	7	1610	c.1455C>G	c.(1453-1455)ctC>ctG	p.L485L	CDYL2_ENST00000562812.1_Silent_p.L486L|CDYL2_ENST00000566173.1_Silent_p.L486L|CDYL2_ENST00000563890.1_Silent_p.L486L	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	485						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						AGGAGCTCCAGAGCTGCTTGA	0.547000													38	85					0	0	1	0	0
METTL21B	25895	broad.mit.edu	37	12	58168511	58168511	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr12:58168511C>T	ENST00000333012.5	+	3	436	c.389C>T	c.(388-390)aCc>aTc	p.T130I	METTL21B_ENST00000300209.8_Intron|METTL21B_ENST00000552307.1_3'UTR|METTL21B_ENST00000551420.1_Intron|METTL21B_ENST00000548256.1_Missense_Mutation_p.T88I|RP11-571M6.15_ENST00000553083.1_Intron|RP11-571M6.15_ENST00000471530.1_Intron	NM_206914.1	NP_996797.1	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B	0						integral to membrane|intracellular	methyltransferase activity			endometrium(1)|lung(1)	2						TCCATGTCTACCATGACTCCC	0.547000													4	13					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998790	27998790	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chrX:27998790A>G	ENST00000441525.1	-	1	776	c.662T>C	c.(661-663)aTa>aCa	p.I221T		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	221										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GTCCCACACTATCACCCTTAA	0.502000													10	39					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL								4	61					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145116027	145116027	+	RNA	SNP	T	T	C	rs7550440		TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr1:145116027T>C	ENST00000453618.1	+	0	1113							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										AAAAGAGATGTCCTGAAAATG	0.423000													5	19					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138379139	138379139	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr9:138379139C>T	ENST00000356818.2	+	4	3332	c.2783C>T	c.(2782-2784)cCt>cTt	p.P928L	PPP1R26_ENST00000401470.3_Missense_Mutation_p.P928L|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.P928L|PPP1R26_ENST00000605286.1_Missense_Mutation_p.P928L|PPP1R26_ENST00000604351.1_Missense_Mutation_p.P928L	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	928						nucleolus	protein binding										AAGGGGCTCCCTGCTGCTCCT	0.672000													10	64					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133353241	133353241	+	Silent	SNP	T	T	C			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr12:133353241T>C	ENST00000204726.3	-	21	4515	c.3957A>G	c.(3955-3957)gaA>gaG	p.E1319E	GOLGA3_ENST00000450791.2_Silent_p.E1319E|GOLGA3_ENST00000456883.2_Silent_p.E1319E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1319	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTGTAGCCCTTCCAGTTCCT	0.587000													4	65					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214822144	214822144	+	Silent	SNP	C	C	T	rs142818960		TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr1:214822144C>T	ENST00000366955.3	+	14	8125	c.7957C>T	c.(7957-7959)Ctg>Ttg	p.L2653L	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2749	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTTGCAGTTACTGTTGGAAGA	0.408000													4	63					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52285331	52285331	+	Silent	SNP	G	G	A			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr5:52285331G>A	ENST00000296585.5	+	1	176	c.33G>A	c.(31-33)ctG>ctA	p.L11L	CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	11					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CCGCGCCGCTGCCGCTGCTGC	0.672000													4	74					0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798323	148798323	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chrX:148798323G>A	ENST00000355220.5	+	5	1279	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	MAGEA11_ENST00000333104.4_Missense_Mutation_p.E364K	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	393	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGCCCACGCTGAGACCAGCAA	0.532000													81	146					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45837906	45837906	+	Silent	SNP	G	G	A			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr21:45837906G>A	ENST00000397928.1	+	21	3688	c.3243G>A	c.(3241-3243)ccG>ccA	p.P1081P	TRPM2_ENST00000397932.2_Silent_p.P1081P|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.P1081P|TRPM2_ENST00000300481.9_Silent_p.P1061P	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1081						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ccgccgcgccgccccccTTCA	0.627000													23	45					0	0	1	0	0
PCDHA10	0	broad.mit.edu	37	5	140237165	140237165	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr5:140237165C>T	ENST00000307360.5	+	1	1532	c.1532C>T	c.(1531-1533)gCg>gTg	p.A511V	PCDHA10_ENST00000506939.2_Missense_Mutation_p.A511V|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGTGCACGCGGAGAGCGGC	0.701000													40	91					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	156214	156214	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr5:156214A>T	ENST00000283426.6	+	8	1219	c.1169A>T	c.(1168-1170)gAg>gTg	p.E390V		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	390					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GACCAGCATGAGACGATGATG	0.582000													26	46					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45507741	45507741	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr21:45507741G>A	ENST00000291574.4	+	17	2876	c.2701G>A	c.(2701-2703)Gca>Aca	p.A901T		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	901					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GCTGGGGATGGCAGAGCCCCA	0.547000													3	33					0	0	1	0	0
IL2RG	3561	broad.mit.edu	37	X	70327615	70327615	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chrX:70327615G>A	ENST00000374202.2	-	8	1172	c.1081C>T	c.(1081-1083)Cca>Tca	p.P361S	IL2RG_ENST00000374188.3_Missense_Mutation_p.P90S|IL2RG_ENST00000456850.2_Missense_Mutation_p.P171S	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	361					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GTGTAACATGGGGGGGCCCAG	0.577000									Severe Combined Immunodeficiency, X-linked				9	19					0	0	1	0	0
SENP2	59343	broad.mit.edu	37	3	185337150	185337150	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr3:185337150delC	ENST00000296257.5	+	13	1546	c.1306delC	c.(1306-1308)atfs	p.H436fs	SENP2_ENST00000545472.1_Frame_Shift_Del_p.H426fs|SENP2_ENST00000427465.2_Frame_Shift_Del_p.H260fs	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	436	Protease.				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCCAGCACTTCATGTATTCAG	0.373													26	34	---	---	---	---					
CTD-2324F15.2	0	broad.mit.edu	37	5	6337066	6337067	+	RNA	DEL	AC	AC	-			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr5:6337066_6337067delAC	ENST00000507444.1	-	0	143					NR_028351.1																						acacatacatacacacacacac	0.475													3	6	---	---	---	---					
CBL	867	broad.mit.edu	37	11	119077233	119077235	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr11:119077233_119077235delCAC	ENST00000264033.4	+	1	482_484	c.106_108delCAC	c.(106-108)del	p.H42del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	42					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTTCCAGCCGcaccaccaccacc	0.675			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				2	4	---	---	---	---					
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr17:3721809_3721811delTCC	ENST00000158149.3	-	11	1111_1113	c.216_218delGGA	c.(214-219)gaa>ga	p.EE78del	C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	358							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.507													7	92	---	---	---	---					
AP001604.3	0	broad.mit.edu	37	21	28793489	28793490	+	RNA	INS	-	-	T	rs144948060		TCGA-EM-A4FM-01A-11D-A257-08	TCGA-EM-A4FM-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8fb009-485a-4a13-8ca8-a1023435f7e8	f8086c0f-874d-48e5-93c9-b13628df6db0	g.chr21:28793489_28793490insT	ENST00000420186.2	-	0	202																											atttttttttcttttttttttt	0.347													4	2	---	---	---	---					
