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
NGFRAP1	27018	broad.mit.edu	37	X	102632596	102632596	+	Silent	SNP	G	G	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chrX:102632596G>C	uc004eki.3	+	2	559	c.177G>C	c.(175-177)ggG>ggC	p.G59G	NGFRAP1_uc004ekh.3_Silent_p.G49G|NGFRAP1_uc004ekj.1_Silent_p.G59G	NM_206915	NP_996800	Q00994	BEX3_HUMAN	Homo sapiens nerve growth factor receptor (TNFRSF16) associated protein 1 (NGFRAP1), transcript variant 2, mRNA.	59					apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding	p.G59A(3)|p.G59G(2)		NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCAATGATGGGATGGGTGGAG	0.502000													10	243					0	0	1	0	0
FKBPL	63943	broad.mit.edu	37	6	32096729	32096729	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr6:32096729G>C	uc003nzr.3	-	1	1099	c.829C>G	c.(829-831)Cgg>Ggg	p.R277G	ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Missense_Mutation_p.R277G	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	Homo sapiens FK506 binding protein like (FKBPL), mRNA.	277					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										TCCAACACCCGGTCACAGCTC	0.592000													9	83					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383218	22383218	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr15:22383218T>C	uc001yuc.1	+	6	1727	c.746T>C	c.(745-747)cTt>cCt	p.L249P	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Missense_Mutation_p.L249P	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATTATACTTCTTATGTTTGGA	0.468000													4	209					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43607566	43607566	+	Silent	SNP	C	C	A			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr10:43607566C>A	uc001jal.3	+	7	1732	c.1542C>A	c.(1540-1542)ggC>ggA	p.G514G	RET_uc001jak.1_Silent_p.G514G|RET_uc010qez.1_Silent_p.G260G	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	514					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.A513G(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AGGAGGCGGGCTGCCCCCTGT	0.662000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				3	6					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117815662	117815662	+	Silent	SNP	T	T	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chrX:117815662T>C	uc004eqp.2	+	50	5931	c.5868T>C	c.(5866-5868)aaT>aaC	p.N1956N	DOCK11_uc004eqq.2_Silent_p.N1735N	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1956	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TATAGGTCAATGCTGGTCCAT	0.338000													21	106					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63477091	63477091	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr18:63477091G>A	uc002ljz.3	+	2	687	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	CDH7_uc002lka.3_Missense_Mutation_p.R121Q|CDH7_uc002lkb.3_Missense_Mutation_p.R121Q	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant a, mRNA.	121	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R121L(3)|p.R121*(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TACACGCTCCGAGCTCAAGCG	0.493000													7	55					0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169547576	169547576	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr2:169547576G>C	uc002uec.1	+	4	622	c.498G>C	c.(496-498)tgG>tgC	p.W166C	CERS6_uc002ueb.1_Missense_Mutation_p.W166C	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.	166	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GGCATTGCTGGTACAACTACC	0.388000													3	96					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196964999	196964999	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr1:196964999G>T	uc001gts.4	+	4	888	c.760G>T	c.(760-762)Gga>Tga	p.G254*		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	254	Sushi 4.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATGTGTGGATGGAGAATGGAC	0.308000													4	37					0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25061434	25061434	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr2:25061434C>A	uc010ykm.2	-	6	1612	c.1413G>T	c.(1411-1413)gaG>gaT	p.E471D	ADCY3_uc002rfr.4_Missense_Mutation_p.E104D|ADCY3_uc002rfs.4_Missense_Mutation_p.E471D	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	471					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CATCGCCTGGCTCCACATCAA	0.577000													5	149					0	0	1	0	0
THOC1	9984	broad.mit.edu	37	18	246403	246403	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr18:246403T>C	uc002kkj.4	-	10	879	c.839A>G	c.(838-840)cAg>cGg	p.Q280R	THOC1_uc002kkl.2_Missense_Mutation_p.Q280R	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	Homo sapiens THO complex 1 (THOC1), mRNA.	280					RNA splicing|apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|signal transduction|transcription, DNA-dependent	THO complex part of transcription export complex|cytoplasm|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCTTGAGGCCTGAGTATCATC	0.269000													3	61					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			60	109					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117053625	117053625	+	Silent	SNP	G	G	A	rs75572880		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chrX:117053625G>A	uc011mtp.2	-	4	571	c.438C>T	c.(436-438)gtC>gtT	p.V146V	KLHL13_uc004eqk.3_Silent_p.V92V|KLHL13_uc004eql.3_Silent_p.V143V|KLHL13_uc011mtn.2_Intron|KLHL13_uc011mto.2_Silent_p.V137V|KLHL13_uc011mtq.2_Silent_p.V127V|KLHL13_uc004eqm.3_Silent_p.V101V|KLHL13_uc022cde.1_Silent_p.V127V	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	143	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCCTTAGACCGACTTTGCTCA	0.343000													4	78					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78010703	78010703	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chrX:78010703A>G	uc010nme.3	+	1	742	c.337A>G	c.(337-339)Atc>Gtc	p.I113V	LPAR4_uc022bzj.1_Missense_Mutation_p.I113V	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	113						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CCTCTGCAAGATCTCTGGAAC	0.428000													4	148					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167142878	167142878	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr2:167142878C>T	uc010fpl.3	-	10	1911	c.1570G>A	c.(1570-1572)Gca>Aca	p.A524T	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.A395T|SCN9A_uc002uds.1_Missense_Mutation_p.A395T|SCN9A_uc002udt.1_Missense_Mutation_p.A395T	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	524						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R523L(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTTTCATGTGCTCGCCTATGC	0.443000													12	263					0	0	1	0	0
GTF2F2	2963	broad.mit.edu	37	13	45725876	45725876	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr13:45725876C>T	uc001uzw.3	+	3	374	c.214C>T	c.(214-216)Cca>Tca	p.P72S		NM_004128	NP_004119	P13984	T2FB_HUMAN	Homo sapiens general transcription factor IIF, polypeptide 2, 30kDa (GTF2F2), mRNA.	72					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		TGGTGGAAAACCAGCTTCAGT	0.378000													4	82					0	0	1	0	0
WNT5B	81029	broad.mit.edu	37	12	1741882	1741882	+	Missense_Mutation	SNP	G	G	A	rs138238149	byFrequency	TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr12:1741882G>A	uc009zdq.3	+	2	381	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	WNT5B_uc001qjj.3_Missense_Mutation_p.V47M|WNT5B_uc001qjk.3_Missense_Mutation_p.V47M|WNT5B_uc001qjl.3_Missense_Mutation_p.V47M	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.	47					Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			TGCCCAGCCCGTGTGCAGTCA	0.567000													19	120					0	0	1	0	0
FKRP	79147	broad.mit.edu	37	19	47259967	47259967	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr19:47259967C>G	uc002pfn.2	+	3	1557	c.1260C>G	c.(1258-1260)ttC>ttG	p.F420L	FKRP_uc002pfp.2_Missense_Mutation_p.F420L|FKRP_uc021uwj.1_Missense_Mutation_p.F420L	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.	420						Golgi apparatus|extracellular space|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		TGTGGCCCTTCTACCCCCGCA	0.627000													2	13					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965206	88965206	+	Silent	SNP	A	A	G			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr7:88965206A>G	uc011khi.2	+	3	3448	c.2910A>G	c.(2908-2910)tcA>tcG	p.S970S		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	970						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTGCACCATCAGGCTGTAACA	0.408000										HNSCC(36;0.09)			3	98					0	0	1	0	0
FKBPL	63943	broad.mit.edu	37	6	32096729	32096729	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr6:32096729G>C	uc003nzr.3	-	1	1099	c.829C>G	c.(829-831)Cgg>Ggg	p.R277G	ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Missense_Mutation_p.R277G	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	Homo sapiens FK506 binding protein like (FKBPL), mRNA.	277					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										TCCAACACCCGGTCACAGCTC	0.592000													9	83					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383218	22383218	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr15:22383218T>C	uc001yuc.1	+	6	1727	c.746T>C	c.(745-747)cTt>cCt	p.L249P	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Missense_Mutation_p.L249P	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATTATACTTCTTATGTTTGGA	0.468000													4	209					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117815662	117815662	+	Silent	SNP	T	T	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chrX:117815662T>C	uc004eqp.2	+	50	5931	c.5868T>C	c.(5866-5868)aaT>aaC	p.N1956N	DOCK11_uc004eqq.2_Silent_p.N1735N	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1956	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TATAGGTCAATGCTGGTCCAT	0.338000													21	106					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63477091	63477091	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr18:63477091G>A	uc002ljz.3	+	2	687	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	CDH7_uc002lka.3_Missense_Mutation_p.R121Q|CDH7_uc002lkb.3_Missense_Mutation_p.R121Q	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant a, mRNA.	121	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R121L(3)|p.R121*(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TACACGCTCCGAGCTCAAGCG	0.493000													7	55					0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169547576	169547576	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr2:169547576G>C	uc002uec.1	+	4	622	c.498G>C	c.(496-498)tgG>tgC	p.W166C	CERS6_uc002ueb.1_Missense_Mutation_p.W166C	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.	166	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GGCATTGCTGGTACAACTACC	0.388000													3	96					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196964999	196964999	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr1:196964999G>T	uc001gts.4	+	4	888	c.760G>T	c.(760-762)Gga>Tga	p.G254*		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	254	Sushi 4.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATGTGTGGATGGAGAATGGAC	0.308000													4	37					0	0	1	0	0
NGFRAP1	27018	broad.mit.edu	37	X	102632596	102632596	+	Silent	SNP	G	G	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chrX:102632596G>C	uc004eki.3	+	2	559	c.177G>C	c.(175-177)ggG>ggC	p.G59G	NGFRAP1_uc004ekh.3_Silent_p.G49G|NGFRAP1_uc004ekj.1_Silent_p.G59G	NM_206915	NP_996800	Q00994	BEX3_HUMAN	Homo sapiens nerve growth factor receptor (TNFRSF16) associated protein 1 (NGFRAP1), transcript variant 2, mRNA.	59					apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding	p.G59A(3)|p.G59G(2)		NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCAATGATGGGATGGGTGGAG	0.502000													10	243					0	0	1	0	0
THOC1	9984	broad.mit.edu	37	18	246403	246403	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr18:246403T>C	uc002kkj.4	-	10	879	c.839A>G	c.(838-840)cAg>cGg	p.Q280R	THOC1_uc002kkl.2_Missense_Mutation_p.Q280R	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	Homo sapiens THO complex 1 (THOC1), mRNA.	280					RNA splicing|apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|signal transduction|transcription, DNA-dependent	THO complex part of transcription export complex|cytoplasm|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCTTGAGGCCTGAGTATCATC	0.269000													3	61					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			60	109					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117053625	117053625	+	Silent	SNP	G	G	A	rs75572880		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chrX:117053625G>A	uc011mtp.2	-	4	571	c.438C>T	c.(436-438)gtC>gtT	p.V146V	KLHL13_uc004eqk.3_Silent_p.V92V|KLHL13_uc004eql.3_Silent_p.V143V|KLHL13_uc011mtn.2_Intron|KLHL13_uc011mto.2_Silent_p.V137V|KLHL13_uc011mtq.2_Silent_p.V127V|KLHL13_uc004eqm.3_Silent_p.V101V|KLHL13_uc022cde.1_Silent_p.V127V	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	143	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCCTTAGACCGACTTTGCTCA	0.343000													4	78					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78010703	78010703	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chrX:78010703A>G	uc010nme.3	+	1	742	c.337A>G	c.(337-339)Atc>Gtc	p.I113V	LPAR4_uc022bzj.1_Missense_Mutation_p.I113V	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	113						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CCTCTGCAAGATCTCTGGAAC	0.428000													4	148					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167142878	167142878	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr2:167142878C>T	uc010fpl.3	-	10	1911	c.1570G>A	c.(1570-1572)Gca>Aca	p.A524T	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.A395T|SCN9A_uc002uds.1_Missense_Mutation_p.A395T|SCN9A_uc002udt.1_Missense_Mutation_p.A395T	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	524						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R523L(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTTTCATGTGCTCGCCTATGC	0.443000													12	263					0	0	1	0	0
GTF2F2	2963	broad.mit.edu	37	13	45725876	45725876	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr13:45725876C>T	uc001uzw.3	+	3	374	c.214C>T	c.(214-216)Cca>Tca	p.P72S		NM_004128	NP_004119	P13984	T2FB_HUMAN	Homo sapiens general transcription factor IIF, polypeptide 2, 30kDa (GTF2F2), mRNA.	72					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		TGGTGGAAAACCAGCTTCAGT	0.378000													4	82					0	0	1	0	0
WNT5B	81029	broad.mit.edu	37	12	1741882	1741882	+	Missense_Mutation	SNP	G	G	A	rs138238149	byFrequency	TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr12:1741882G>A	uc009zdq.3	+	2	381	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	WNT5B_uc001qjj.3_Missense_Mutation_p.V47M|WNT5B_uc001qjk.3_Missense_Mutation_p.V47M|WNT5B_uc001qjl.3_Missense_Mutation_p.V47M	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.	47					Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			TGCCCAGCCCGTGTGCAGTCA	0.567000													19	120					0	0	1	0	0
FKRP	79147	broad.mit.edu	37	19	47259967	47259967	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr19:47259967C>G	uc002pfn.2	+	3	1557	c.1260C>G	c.(1258-1260)ttC>ttG	p.F420L	FKRP_uc002pfp.2_Missense_Mutation_p.F420L|FKRP_uc021uwj.1_Missense_Mutation_p.F420L	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.	420						Golgi apparatus|extracellular space|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		TGTGGCCCTTCTACCCCCGCA	0.627000													2	13					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965206	88965206	+	Silent	SNP	A	A	G			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr7:88965206A>G	uc011khi.2	+	3	3448	c.2910A>G	c.(2908-2910)tcA>tcG	p.S970S		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	970						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTGCACCATCAGGCTGTAACA	0.408000										HNSCC(36;0.09)			3	98					0	0	1	0	0
MGC20647	0	broad.mit.edu	37	22	30642618	30642618	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr22:30642618delG	uc003aha.3	+	0	420	c.127delG	c.(127-129)gcgfs	p.A43fs	LIF_uc003agz.2_Intron|LIF_uc011aks.1_Intron					Homo sapiens hypothetical protein MGC20647, mRNA (cDNA clone IMAGE:3355596), partial cds.																		AGTTGCCGCCGCGCCCCGCAG	0.711													2	4	---	---	---	---