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
HTR2A	3356	broad.mit.edu	37	13	47469888	47469888	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr13:47469888G>A	ENST00000378688.4	-	1	285	c.154C>T	c.(154-156)Cga>Tga	p.R52*	HTR2A_ENST00000542664.1_Nonsense_Mutation_p.R52*|HTR2A_ENST00000543956.1_Intron			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	52					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGGTTGGTTCGATTTTCAGAG	0.443000													40	51					0	0	6.26518e-05	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962063	10962063	+	Silent	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr12:10962063G>A	ENST00000240691.2	-	1	704	c.612C>T	c.(610-612)tcC>tcT	p.S204S		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	204					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GTCTAACTAGGGAGAAAAGTA	0.458000													11	9					0	0	6.40141e-05	0	0
ABHD1	84696	broad.mit.edu	37	2	27351972	27351972	+	Silent	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr2:27351972C>T	ENST00000316470.4	+	3	549	c.435C>T	c.(433-435)aaC>aaT	p.N145N		NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	145						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTAGTTAACCAAGCTCTGA	0.537000													23	5					0	0	7.16444e-05	0	0
AMER3	205147	broad.mit.edu	37	2	131520378	131520378	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr2:131520378G>A	ENST00000423981.1	+	2	843	c.733G>A	c.(733-735)Gac>Aac	p.D245N	AMER3_ENST00000321420.4_Missense_Mutation_p.D245N	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		CCAGAGCTTCGACTCGCTCAC	0.647000													31	53					0	0	3.51345e-05	0	0
IL36RN	26525	broad.mit.edu	37	2	113818515	113818515	+	Splice_Site	SNP	G	G	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr2:113818515G>T	ENST00000393200.2	+	3	276		c.e3+1		IL36RN_ENST00000346807.3_Splice_Site	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist							extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GTCATTAAAGGTTGGTGATGA	0.473000													9	24					6.40141e-05	0.00540809	6.40141e-05	1	0
KIAA0319	9856	broad.mit.edu	37	6	24578408	24578408	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr6:24578408C>T	ENST00000535378.1	-	10	2050	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	KIAA0319_ENST00000378214.3_Missense_Mutation_p.E479K|KIAA0319_ENST00000537886.1_Missense_Mutation_p.E479K|KIAA0319_ENST00000543707.1_Missense_Mutation_p.E479K|KIAA0319_ENST00000430948.2_Missense_Mutation_p.E434K	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	479	PKD 2.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTCTTCTCTTCTATGAAGGGC	0.393000													24	36					0	0	4.16121e-05	0	0
FBXO15	201456	broad.mit.edu	37	18	71749192	71749192	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr18:71749192C>T	ENST00000269500.5	-	9	1340	c.1005G>A	c.(1003-1005)tgG>tgA	p.W335*	FBXO15_ENST00000419743.2_Nonsense_Mutation_p.W411*|FBXO15_ENST00000580806.1_5'UTR	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	335										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TATCAGTTTTCCACGAGAGGC	0.294000													17	16					0	0	7.07596e-05	0	0
APBA2	321	broad.mit.edu	37	15	29346627	29346627	+	Silent	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr15:29346627G>A	ENST00000558402.1	+	5	1139	c.540G>A	c.(538-540)caG>caA	p.Q180Q	APBA2_ENST00000558259.1_Silent_p.Q180Q|APBA2_ENST00000558330.1_Silent_p.Q180Q|APBA2_ENST00000561069.1_Silent_p.Q180Q|APBA2_ENST00000411764.1_Silent_p.Q180Q			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	180				DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767).	nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CCCATGACCAGGAAGAAGATG	0.652000													12	17					0	0	0.00010058	0	0
CEACAM5	1048	broad.mit.edu	37	19	42222066	42222066	+	Silent	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr19:42222066C>T	ENST00000221992.6	+	6	1371	c.1257C>T	c.(1255-1257)acC>acT	p.T419T	CEACAM5_ENST00000405816.1_Silent_p.T419T|CEACAM5_ENST00000398599.4_Silent_p.T418T|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	419	Ig-like 5.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		ACGACCCCACCATTTCCCCCT	0.542000													17	35					0	0	2.27731e-05	0	0
OR8I2	120586	broad.mit.edu	37	11	55861122	55861122	+	Silent	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr11:55861122C>T	ENST00000302124.2	+	1	370	c.339C>T	c.(337-339)ttC>ttT	p.F113F	OR8I2_ENST00000560768.1_Silent_p.F113F			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GTGAGTGTTTCCTTCTGGGAT	0.428000													16	26					0	0	2.31682e-05	0	0
IL5RA	3568	broad.mit.edu	37	3	3144437	3144437	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr3:3144437C>T	ENST00000446632.2	-	4	724	c.150G>A	c.(148-150)tgG>tgA	p.W50*	IL5RA_ENST00000445864.2_Nonsense_Mutation_p.W50*|IL5RA_ENST00000438560.1_Nonsense_Mutation_p.W50*|IL5RA_ENST00000256452.3_Nonsense_Mutation_p.W50*|IL5RA_ENST00000311981.8_Nonsense_Mutation_p.W50*|IL5RA_ENST00000456302.1_Nonsense_Mutation_p.W50*|IL5RA_ENST00000418488.2_Nonsense_Mutation_p.W50*|IL5RA_ENST00000383846.1_Nonsense_Mutation_p.W50*|IL5RA_ENST00000430514.2_Nonsense_Mutation_p.W50*	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	50					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GATTTGGTTTCCATTGTAAAA	0.333000													14	32					0	0	0.000151284	0	0
VCAN	1462	broad.mit.edu	37	5	82817330	82817330	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr5:82817330G>A	ENST00000265077.3	+	7	3770	c.3205G>A	c.(3205-3207)Gat>Aat	p.D1069N	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.D1021N|VCAN_ENST00000342785.4_Missense_Mutation_p.D1069N	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1069	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACAAGAGGGCGATGGATCAGC	0.463000													20	22					0	0	4.16121e-05	0	0
CDKAL1	54901	broad.mit.edu	37	6	21198255	21198255	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr6:21198255G>T	ENST00000274695.4	+	14	1470	c.1303G>T	c.(1303-1305)Ggt>Tgt	p.G435C	CDKAL1_ENST00000378624.4_Missense_Mutation_p.G344C|CDKAL1_ENST00000378610.1_Missense_Mutation_p.G435C	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	435	TRAM.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TCCACAGATTGGTGAAAGACA	0.393000													11	455					1.49906e-05	0.00128866	1.49906e-05	1	0
NTRK1	4914	broad.mit.edu	37	1	156849015	156849015	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr1:156849015C>T	ENST00000368196.3	+	14	2009	c.1889C>T	c.(1888-1890)gCg>gTg	p.A630V	NTRK1_ENST00000392302.2_Missense_Mutation_p.A600V|NTRK1_ENST00000358660.3_Missense_Mutation_p.A633V|NTRK1_ENST00000524377.1_Missense_Mutation_p.A636V	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	636	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CAGGTCGCTGCGGGGATGGTG	0.637000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			12	19					0	0	0.00010058	0	0
GOLGB1	2804	broad.mit.edu	37	3	121414883	121414883	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr3:121414883G>A	ENST00000393667.3	-	13	4597	c.4487C>T	c.(4486-4488)tCc>tTc	p.S1496F	GOLGB1_ENST00000340645.5_Missense_Mutation_p.S1491F	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1491					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTCTTTTCGGGAAATAAGGGC	0.418000													80	120					0	0	0.000147903	0	0
DOT1L	84444	broad.mit.edu	37	19	2226433	2226433	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr19:2226433G>A	ENST00000398665.3	+	27	3949	c.3913G>A	c.(3913-3915)Gga>Aga	p.G1305R		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1305						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGGCTGACGGACTCAGCCC	0.677000													18	15					0	0	0.000132079	0	0
SERPINF2	5345	broad.mit.edu	37	17	1657592	1657592	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr17:1657592C>T	ENST00000324015.3	+	10	1317	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S	SERPINF2_ENST00000382061.4_Missense_Mutation_p.P414S|SERPINF2_ENST00000450523.2_Missense_Mutation_p.P350S	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	414					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	CGTGAACCGCCCCTTCCTCTT	0.647000													45	53					0	0	0.000147903	0	0
AK8	158067	broad.mit.edu	37	9	135698650	135698650	+	Silent	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr9:135698650C>T	ENST00000298545.3	-	9	1352	c.831G>A	c.(829-831)gtG>gtA	p.V277V	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	277	Adenylate kinase.					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.V277V(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TCCCACTGCCCACAGGCCCGA	0.577000													57	82					0	0	0.000147903	0	0
SPACA7	122258	broad.mit.edu	37	13	113053480	113053480	+	Silent	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr13:113053480C>T	ENST00000375699.3	+	3	421	c.249C>T	c.(247-249)tcC>tcT	p.S83S	SPACA7_ENST00000283550.3_Silent_p.S114S			Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	114						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						TCAAAATTTCCAATGATGGTA	0.438000													11	14					0	0	0.00010058	0	0
PLXNB3	5365	broad.mit.edu	37	X	153040478	153040478	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chrX:153040478G>A	ENST00000538966.1	+	25	4415	c.4144G>A	c.(4144-4146)Gag>Aag	p.E1382K	PLXNB3_ENST00000538282.1_3'UTR|PLXNB3_ENST00000361971.5_Missense_Mutation_p.E1359K|PLXNB3_ENST00000538776.1_Missense_Mutation_p.E1012K	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1359					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGCCAGGGGAGGACGGCCA	0.687000													14	16					0	0	2.31682e-05	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1																						GCTGCCACATAAGTTGTCCTT	0.303000													5	8					0	0	8.12818e-05	0	0
RS1	6247	broad.mit.edu	37	X	18660162	18660162	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chrX:18660162G>A	ENST00000379984.3	-	6	677	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	213	F5/8 type C.		R -> Q (in XLRS1).|R -> W (in XLRS1).		cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					AGCTCCATCCGGATGGCAATG	0.682000													31	46					0	0	4.66903e-05	0	0
OBSCN	84033	broad.mit.edu	37	1	228486167	228486167	+	Missense_Mutation	SNP	G	G	A	rs150190896	by1000genomes	TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr1:228486167G>A	ENST00000570156.2	+	49	13033	c.12959G>A	c.(12958-12960)cGa>cAa	p.R4320Q	OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_Splice_Site_p.R2738_splice|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1010Q|OBSCN_ENST00000366709.4_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3363	Ig-like 44.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.R4174L(1)|p.R3945L(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGCCTGCACGATTCACTCAA	0.542000													44	80					0	0	0.000147903	0	0
EPHB6	2051	broad.mit.edu	37	7	142562309	142562309	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr7:142562309G>T	ENST00000392957.2	+	7	1538	c.751G>T	c.(751-753)Ggg>Tgg	p.G251W	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.G251W	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	251	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGTGGGGCTGGGGGGGCCTC	0.682000													33	58					7.61165e-28	6.78129e-26	0.000109025	1	0
TENM1	10178	broad.mit.edu	37	X	123587303	123587303	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chrX:123587303C>T	ENST00000422452.2	-	23	4051	c.3988G>A	c.(3988-3990)Gat>Aat	p.D1330N	TENM1_ENST00000371130.3_Missense_Mutation_p.D1323N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ATAGTCCCATCCACAAAGTAA	0.428000													25	49					0	0	7.16444e-05	0	0
MOCOS	55034	broad.mit.edu	37	18	33800069	33800069	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr18:33800069A>G	ENST00000261326.5	+	9	1870	c.1849A>G	c.(1849-1851)Atg>Gtg	p.M617V		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	617					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	CCGGAGCTGGATGGTTGTGAA	0.537000													36	60					0	0	4.2857e-05	0	0
ABCB1	5243	broad.mit.edu	37	7	87179329	87179329	+	Silent	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr7:87179329C>T	ENST00000265724.3	-	14	1809	c.1392G>A	c.(1390-1392)agG>agA	p.R464R	ABCB1_ENST00000543898.1_Silent_p.R400R	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	464	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCCGTAGAAACCTTACATTTA	0.408000													34	53					0	0	8.91981e-05	0	0
FRG1	2483	broad.mit.edu	37	4	190876287	190876287	+	Nonsense_Mutation	SNP	G	G	A	rs113079586		TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr4:190876287G>A	ENST00000226798.4	+	5	635	c.413G>A	c.(412-414)tGg>tAg	p.W138*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	138					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGAGAACAATGGGAACCAGTC	0.348000													5	93					0	0	2.17888e-05	0	0
ZHX2	22882	broad.mit.edu	37	8	123965169	123965169	+	Silent	SNP	C	C	T	rs148698137	byFrequency	TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr8:123965169C>T	ENST00000314393.4	+	3	2254	c.1419C>T	c.(1417-1419)atC>atT	p.I473I		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	473	Required for interaction with NFYA.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			ACCGGCTCATCGAGGTGACTG	0.557000													9	12					0	0	1.12685e-05	0	0
COL1A1	1277	broad.mit.edu	37	17	48268796	48268796	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr17:48268796C>T	ENST00000225964.5	-	32	2301	c.2183G>A	c.(2182-2184)gGa>gAa	p.G728E		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	728	Triple-helical region.		G -> R (in OI2A).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACCAGGCATTCCCTGAAGGCC	0.622000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						30	38					0	0	7.24521e-05	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64619553	64619553	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr3:64619553G>T	ENST00000498707.1	-	13	2201	c.1859C>A	c.(1858-1860)cCa>cAa	p.P620Q	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P592Q	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	620	TSP type-1 1.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACCATTTTTTGGTCTGAAAAA	0.403000													71	104					6.66389e-18	5.7793e-16	0.000147903	1	0
TUBA3D	113457	broad.mit.edu	37	2	132240164	132240164	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr2:132240164G>A	ENST00000321253.6	+	5	1203	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	366					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GGTCCCCGGGGGAGACCTGGC	0.577000													21	38					0	0	0.000147802	0	0
ANK3	288	broad.mit.edu	37	10	62029942	62029942	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr10:62029942C>T	ENST00000280772.1	-	5	651	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	ANK3_ENST00000503366.1_Missense_Mutation_p.E137K|ANK3_ENST00000373827.2_Missense_Mutation_p.E148K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	154					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGACAACTTCCAGGTGATTT	0.408000													34	9					0	0	2.86225e-05	0	0
TTN	7273	broad.mit.edu	37	2	179435636	179435636	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr2:179435636G>A	ENST00000589042.1	-	326	75447	c.75223C>T	c.(75223-75225)Cac>Tac	p.H25075Y	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H23434Y|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H16135Y|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H22507Y|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H16010Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H16202Y|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23434	Fibronectin type-III 82.						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)			TCATATCTGTGATCTTCAACT	0.423000													44	66					0	0	8.96297e-05	0	0
ACTL8	81569	broad.mit.edu	37	1	18149591	18149591	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr1:18149591C>T	ENST00000375406.1	+	2	304	c.88C>T	c.(88-90)Ccg>Tcg	p.P30S		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	30						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GATGGTCTTCCCGAACATCGT	0.582000													26	6					0	0	5.49717e-05	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401460	77401460	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr16:77401460C>T	ENST00000282849.5	-	4	1074	c.656G>A	c.(655-657)gGc>gAc	p.G219D	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	219					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G219V(1)|p.G216_G219del(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCGGCCAGAGCCGGGGTAGCC	0.547000													10	31					0	0	6.40141e-05	0	0
UNC13D	201294	broad.mit.edu	37	17	73824968	73824968	+	Silent	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr17:73824968C>T	ENST00000207549.4	-	31	3430	c.3051G>A	c.(3049-3051)gaG>gaA	p.E1017E	UNC13D_ENST00000412096.2_Silent_p.E1017E	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	1017	C2 2.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGGAAGGCCTCGCCTTCCA	0.706000									Familial Hemophagocytic Lymphohistiocytosis				7	8					0	0	5.18039e-06	0	0
EFNB3	1949	broad.mit.edu	37	17	7612773	7612773	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr17:7612773G>A	ENST00000226091.2	+	5	1299	c.902G>A	c.(901-903)gGg>gAg	p.G301E		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	301					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				CGGGGTGGCGGGGCTGCAGAT	0.662000													21	20					0	0	4.16121e-05	0	0
RNF217	154214	broad.mit.edu	37	6	125397968	125397968	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr6:125397968C>T	ENST00000521654.2	+	4	1447	c.1447C>T	c.(1447-1449)Cct>Tct	p.P483S	RNF217_ENST00000275184.6_Missense_Mutation_p.P127S|RNF217_ENST00000560949.1_Missense_Mutation_p.P248S|RNF217_ENST00000359704.2_Missense_Mutation_p.P191S|RNF217_ENST00000368414.2_Missense_Mutation_p.P45S			Q8TC41	RN217_HUMAN	ring finger protein 217	191					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		CCCAGAGAGACCTCATTTAAG	0.448000													23	33					0	0	9.22233e-05	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130460844	130460844	+	Silent	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr6:130460844C>T	ENST00000529410.1	+	25	2768	c.2289C>T	c.(2287-2289)ttC>ttT	p.F763F	L3MBTL3_ENST00000361794.2_Silent_p.F763F|L3MBTL3_ENST00000526019.1_Silent_p.F738F|L3MBTL3_ENST00000368136.2_Silent_p.F763F|L3MBTL3_ENST00000368139.2_Silent_p.F738F|L3MBTL3_ENST00000533560.1_Silent_p.F738F|RP11-73O6.3_ENST00000415964.1_RNA			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	763	SAM.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TCAAAATTTTCAATTCCATCC	0.363000													22	31					0	0	2.27731e-05	0	0
PCLO	27445	broad.mit.edu	37	7	82584475	82584475	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr7:82584475G>A	ENST00000423517.2	-	5	6131	c.5794C>T	c.(5794-5796)Cca>Tca	p.P1932S	PCLO_ENST00000333891.8_Missense_Mutation_p.P1932S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1863					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGCAGCTGGAAAAGCTTTG	0.358000													36	38					0	0	7.24521e-05	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481317	142481317	+	RNA	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr7:142481317G>A	ENST00000603901.1	+	0	391					NR_001296.3																						TCTGCCCACTGCCCCTCCAGC	0.547000													7	31					0	0	2.17888e-05	0	0
OR4C3	256144	broad.mit.edu	37	11	48346646	48346646	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr11:48346646C>T	ENST00000319856.4	+	1	175	c.154C>T	c.(154-156)Ctc>Ttc	p.L52F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						ACAGAGAGTTCTCTTTGTGGT	0.473000													32	52					0	0	2.90539e-05	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	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				53	2					0	0	0.000147903	0	0
DNAH3	55567	broad.mit.edu	37	16	20952783	20952783	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr16:20952783G>A	ENST00000261383.3	-	59	11593	c.11594C>T	c.(11593-11595)cCc>cTc	p.P3865L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3865					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATAGACCACGGGGTACAACTT	0.483000													96	103					0	0	0.000147903	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22884663	22884663	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr8:22884663C>T	ENST00000276431.4	-	7	1203	c.919G>A	c.(919-921)Gag>Aag	p.E307K	TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.E127K|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.E278K	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	307					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TGCTCTGACTCCCCGGGGGAC	0.562000													15	23					0	0	2.31682e-05	0	0
CPAMD8	27151	broad.mit.edu	37	19	17100547	17100547	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr19:17100547C>T	ENST00000443236.1	-	13	1473	c.1442G>A	c.(1441-1443)gGg>gAg	p.G481E	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	434						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTACTGAGCCCCCACAGGCTT	0.602000													9	16					0	0	2.17888e-05	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481316	142481316	+	RNA	SNP	T	T	C	rs140068138	by1000genomes	TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr7:142481316T>C	ENST00000603901.1	+	0	390					NR_001296.3																						CTCTGCCCACTGCCCCTCCAG	0.547000													7	32					0	0	2.17888e-05	0	0
FRG1	2483	broad.mit.edu	37	4	190876268	190876268	+	Missense_Mutation	SNP	A	A	G	rs145193566	by1000genomes	TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr4:190876268A>G	ENST00000226798.4	+	5	616	c.394A>G	c.(394-396)Att>Gtt	p.I132V	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	132					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TTCAGATGCAATTGGACCAAG	0.358000													5	92					0	0	1.12685e-05	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64766968	64766968	+	Splice_Site	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr5:64766968C>T	ENST00000536360.1	-	3	912	c.97_splice	c.e3-1	p.E33_splice				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	33					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TCAGGAATTCCTCTTTGTAAT	0.338000													25	24					0	0	9.22233e-05	0	0
DDX54	79039	broad.mit.edu	37	12	113612529	113612529	+	Silent	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr12:113612529G>A	ENST00000314045.7	-	10	1011	c.984C>T	c.(982-984)ctC>ctT	p.L328L	DDX54_ENST00000306014.5_Silent_p.L328L	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	328	Helicase C-terminal.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCAGCAGGTGGAGCAGCACGG	0.652000											OREG0022139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	4					0	0	2.27731e-05	0	0
SCN5A	6331	broad.mit.edu	37	3	38639416	38639416	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr3:38639416C>T	ENST00000413689.1	-	14	2259	c.2066G>A	c.(2065-2067)cGt>cAt	p.R689H	SCN5A_ENST00000414099.2_Missense_Mutation_p.R689H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R689H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R689H|SCN5A_ENST00000333535.4_Missense_Mutation_p.R689H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R689H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R689H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R689H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R689H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R689H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	689					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTGGGCGAGACGGTTCCAGCA	0.537000													42	47					0	0	0.000147903	0	0
HTR1A	3350	broad.mit.edu	37	5	63256815	63256815	+	Silent	SNP	T	T	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr5:63256815T>A	ENST00000323865.3	-	1	965	c.732A>T	c.(730-732)gcA>gcT	p.A244A	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	244				A -> AA (in Ref. 8).	behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GGGCGGGAGATGCTCCATGGC	0.632000													19	34					0	0	7.16444e-05	0	0
FAIM	55179	broad.mit.edu	37	3	138351790	138351790	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr3:138351790G>T	ENST00000338446.4	+	6	1194	c.511G>T	c.(511-513)Ggg>Tgg	p.G171W	FAIM_ENST00000464668.1_Missense_Mutation_p.G137W|FAIM_ENST00000393034.2_Missense_Mutation_p.G137W|FAIM_ENST00000360570.3_Missense_Mutation_p.G159W|FAIM_ENST00000393035.2_Missense_Mutation_p.G137W	NM_001033030.1	NP_001028202.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	137					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						TGTAGATGATGGGACTGAAAC	0.413000													8	335					3.86212e-05	0.0032912	3.86212e-05	1	0
NDFIP1	80762	broad.mit.edu	37	5	141515366	141515366	+	Silent	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr5:141515366C>T	ENST00000253814.4	+	4	824	c.354C>T	c.(352-354)ttC>ttT	p.F118F		NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	118					cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGGATTTTCATGTTAACTT	0.353000													45	62					0	0	0.000147903	0	0
XDH	7498	broad.mit.edu	37	2	31588332	31588332	+	Silent	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr2:31588332G>A	ENST00000379416.3	-	23	2583	c.2535C>T	c.(2533-2535)gcC>gcT	p.A845A		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	845					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCTTGTATCTGGCCAGGAAGG	0.577000													53	10					0	0	0.000147903	0	0
C11orf84	144097	broad.mit.edu	37	11	63586326	63586326	+	Silent	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr11:63586326C>T	ENST00000294244.4	+	5	1085	c.786C>T	c.(784-786)gtC>gtT	p.V262V		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	262										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CAGCCGAGGTCCGACACTTCA	0.622000													23	45					0	0	0.000117367	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573706	140573706	+	Silent	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr5:140573706C>T	ENST00000239446.4	+	1	1765	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		527	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGGCTTTCGAGTTCCGCG	0.692000													34	77					0	0	8.91981e-05	0	0
GPR179	440435	broad.mit.edu	37	17	36499248	36499248	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr17:36499248G>A	ENST00000342292.4	-	1	445	c.425C>T	c.(424-426)cCa>cTa	p.P142L		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	142						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GTACACTCTTGGGTCCCCCTC	0.622000													16	24					0	0	3.45872e-05	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1																						AGCTGCCACATAAGTTGTCCT	0.299000													5	9					0	0	1.23904e-05	0	0
MYOM1	8736	broad.mit.edu	37	18	3188758	3188758	+	Silent	SNP	G	G	C			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr18:3188758G>C	ENST00000400569.3	-	4	1092	c.759C>G	c.(757-759)tcC>tcG	p.S253S	MYOM1_ENST00000261606.7_Silent_p.S253S|MYOM1_ENST00000356443.4_Silent_p.S253S			P52179	MYOM1_HUMAN	myomesin 1	253						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTTTCCTCAGGGACAGGCGTT	0.423000													11	10					0	0	3.86212e-05	0	0
SPRR4	163778	broad.mit.edu	37	1	152944374	152944374	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr1:152944374C>T	ENST00000328051.2	+	2	57	c.8C>T	c.(7-9)tCc>tTc	p.S3F		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	3					keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAATGTCTTCCcagcagcag	0.532000													40	39					0	0	2.31628e-05	0	0
SNTG2	54221	broad.mit.edu	37	2	1241704	1241704	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr2:1241704G>A	ENST00000308624.5	+	10	893	c.764G>A	c.(763-765)gGg>gAg	p.G255E	SNTG2_ENST00000407292.1_Missense_Mutation_p.G128E	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	255					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GTCAGCTCTGGGATCCTCCGG	0.652000													9	2					0	0	3.86212e-05	0	0
SLC24A1	9187	broad.mit.edu	37	15	65917534	65917534	+	Silent	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr15:65917534C>T	ENST00000261892.6	+	2	1403	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	SLC24A1_ENST00000546330.1_Silent_p.S372S|SLC24A1_ENST00000544319.2_Silent_p.S372S|SLC24A1_ENST00000537259.1_Silent_p.S372S|SLC24A1_ENST00000399033.4_Silent_p.S372S|SLC24A1_ENST00000339868.6_Silent_p.S372S	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	372					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGAAACCTTCCACAGCACCCA	0.557000													14	26					0	0	1.49906e-05	0	0
MFSD2A	84879	broad.mit.edu	37	1	40431577	40431577	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr1:40431577G>A	ENST00000372809.5	+	6	787	c.644G>A	c.(643-645)gGa>gAa	p.G215E	MFSD2A_ENST00000420632.2_Missense_Mutation_p.G46E|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000372811.5_Missense_Mutation_p.G202E	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	215					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GCGATCCAGGGACAAATCGTG	0.562000													23	10					0	0	0.000117367	0	0
TBX4	9496	broad.mit.edu	37	17	59557471	59557471	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr17:59557471C>T	ENST00000393853.4	+	8	975	c.812C>T	c.(811-813)tCc>tTc	p.S271F	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Missense_Mutation_p.S271F			P57082	TBX4_HUMAN	T-box 4	271					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCCGTGATTTCCAAAAGCATC	0.597000													40	46					0	0	4.2857e-05	0	0
FLG	2312	broad.mit.edu	37	1	152283563	152283563	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr1:152283563C>T	ENST00000368799.1	-	3	3834	c.3799G>A	c.(3799-3801)Gga>Aga	p.G1267R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1267	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACACTGGATCCCTGGTGCCTG	0.557000									Ichthyosis				68	89					0	0	0.000147903	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885348	88885348	+	Silent	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr8:88885348G>A	ENST00000319675.3	-	1	948	c.852C>T	c.(850-852)ttC>ttT	p.F284F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	284								p.F284F(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ATGACACCAGGAATTGGCCAT	0.498000													27	28					0	0	0.000147802	0	0
CD163	9332	broad.mit.edu	37	12	7640410	7640410	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr12:7640410C>T	ENST00000359156.4	-	7	1896	c.1694G>A	c.(1693-1695)gGa>gAa	p.G565E	CD163_ENST00000541972.1_Missense_Mutation_p.G553E|CD163_ENST00000396620.3_Missense_Mutation_p.G565E|CD163_ENST00000432237.2_Missense_Mutation_p.G565E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	565	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCTACAAGTTCCTTCTGGGCG	0.498000													30	45					0	0	2.25844e-05	0	0
MARCO	8685	broad.mit.edu	37	2	119750795	119750795	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr2:119750795G>A	ENST00000541757.1	+	17	1494	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	MARCO_ENST00000327097.4_Missense_Mutation_p.E450K			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	450	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TTGCGATGACGAGTGGCAAAA	0.532000													34	68					0	0	0.000132358	0	0
AGXT2	64902	broad.mit.edu	37	5	35035412	35035412	+	Silent	SNP	A	A	G			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr5:35035412A>G	ENST00000231420.6	-	5	696	c.496T>C	c.(496-498)Ttg>Ctg	p.L166L		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	166					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	CTGTTCACCAAGAAAATGACC	0.468000													71	115					0	0	0.000147903	0	0
EZH1	2145	broad.mit.edu	37	17	40861891	40861891	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr17:40861891G>A	ENST00000428826.2	-	13	1587	c.1466C>T	c.(1465-1467)cCc>cTc	p.P489L	EZH1_ENST00000592743.1_Missense_Mutation_p.P489L|EZH1_ENST00000590078.1_Missense_Mutation_p.P419L|EZH1_ENST00000435174.1_Missense_Mutation_p.P350L|EZH1_ENST00000585893.1_Missense_Mutation_p.P449L|EZH1_ENST00000415827.2_Missense_Mutation_p.P480L			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	489					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CTTCTGTGAGGGGTTCATGAG	0.483000													47	40					0	0	0.000147903	0	0
XYLB	9942	broad.mit.edu	37	3	38417659	38417659	+	Silent	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr3:38417659C>T	ENST00000207870.3	+	13	1146	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	XYLB_ENST00000542835.1_Silent_p.S215S	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	352					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		AGTCTGTATCCCGTTCCTGGA	0.557000													46	79					0	0	0.000147903	0	0
NUP205	23165	broad.mit.edu	37	7	135303182	135303182	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr7:135303182A>G	ENST00000285968.6	+	28	3820	c.3794A>G	c.(3793-3795)tAt>tGt	p.Y1265C		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1265					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GTACTTCAGTATGTGGTAGGA	0.393000													54	15					0	0	0.000147903	0	0
TSEN2	80746	broad.mit.edu	37	3	12558112	12558112	+	Silent	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr3:12558112C>T	ENST00000444864.1	+	6	1221	c.834C>T	c.(832-834)gcC>gcT	p.A278A	TSEN2_ENST00000284995.6_Silent_p.A304A|C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000415684.1_Silent_p.A278A|TSEN2_ENST00000383797.5_Intron|TSEN2_ENST00000454502.2_Silent_p.A245A|TSEN2_ENST00000402228.3_Silent_p.A304A|TSEN2_ENST00000314571.7_Silent_p.A278A	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	304					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						ATTTTCAGGCCTTTTTCTTGG	0.333000													218	398					0	0	0.000147903	0	0
RBM5	10181	broad.mit.edu	37	3	50131285	50131285	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr3:50131285C>T	ENST00000347869.3	+	4	491	c.316C>T	c.(316-318)Ccc>Tcc	p.P106S	RBM5_ENST00000469838.1_Missense_Mutation_p.P106S	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	106	RRM 1.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCGCGGCCTTCCCATCACCAT	0.483000													45	66					0	0	0.000147903	0	0
PTEN	5728	broad.mit.edu	37	10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	rs121913292		TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr10:89692904C>T	ENST00000371953.3	+	5	1745	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403000	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			38	13					0	0	5.1965e-05	0	0
FLG	2312	broad.mit.edu	37	1	152277111	152277111	+	Silent	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr1:152277111C>T	ENST00000368799.1	-	3	10286	c.10251G>A	c.(10249-10251)caG>caA	p.Q3417Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3417	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTCGTGCCTGCTCGTGGT	0.602000									Ichthyosis				74	99					0	0	0.000147903	0	0
COX10	1352	broad.mit.edu	37	17	14110342	14110342	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr17:14110342C>T	ENST00000261643.3	+	7	1221	c.1144C>T	c.(1144-1146)Ccc>Tcc	p.P382S	COX10_ENST00000537334.1_Missense_Mutation_p.P165S|COX10_ENST00000536205.1_Missense_Mutation_p.P190S	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	382					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		ATGGACCTTCCCCATCATGGC	0.657000													39	37					0	0	2.86225e-05	0	0
C12orf54	121273	broad.mit.edu	37	12	48888647	48888647	+	Silent	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr12:48888647G>A	ENST00000314014.2	+	8	440	c.309G>A	c.(307-309)gaG>gaA	p.E103E	RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000548364.1_Silent_p.E103E	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	103										endometrium(1)|large_intestine(4)	5						GCTCTGGAGAGCAGCCATCAG	0.473000													98	58					0	0	0.000147903	0	0
AACS	65985	broad.mit.edu	37	12	125626733	125626733	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr12:125626733C>T	ENST00000261686.6	+	17	1918	c.1774C>T	c.(1774-1776)Cct>Tct	p.P592S	AACS_ENST00000316543.10_Silent_p.T257T|AACS_ENST00000543665.1_Silent_p.T91T|AACS_ENST00000545511.1_Silent_p.T171T|AACS_ENST00000316519.6_Silent_p.T659T			Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	0					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ACCCCGAGACCCTGGATCTGT	0.567000													19	11					0	0	0.000132079	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139755	142139755	+	RNA	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr7:142139755G>A	ENST00000390374.3	-	0	60																											ACCCAGCATAGGAGACTGGTG	0.537000													41	8					0	0	0.000147903	0	0
SLC6A11	6538	broad.mit.edu	37	3	10970933	10970933	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr3:10970933C>T	ENST00000254488.2	+	10	1345	c.1279C>T	c.(1279-1281)Ccc>Tcc	p.P427S		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	427					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GGACATGTACCCCAAGGTTTT	0.547000													57	83					0	0	0.000147903	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481251	142481251	+	RNA	SNP	A	A	C	rs140137372	by1000genomes	TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr7:142481251A>C	ENST00000603901.1	+	0	325					NR_001296.3																						CAATGACATCATGCTGATCAA	0.522000													4	55					0	0	1.12685e-05	0	0
TEX26	122046	broad.mit.edu	37	13	31549009	31549009	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr13:31549009C>T	ENST00000380473.3	+	7	848	c.835C>T	c.(835-837)Cgt>Tgt	p.R279C	TEX26_ENST00000530916.1_3'UTR|RP11-252M21.6_ENST00000433788.1_RNA	NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	279																	TCGCTTTATTCGTACTCACTG	0.303000													7	15					0	0	1.12685e-05	0	0
ACSL5	51703	broad.mit.edu	37	10	114186028	114186028	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr10:114186028G>A	ENST00000393081.1	+	19	2057	c.1750G>A	c.(1750-1752)Gga>Aga	p.G584R	ACSL5_ENST00000433418.1_Missense_Mutation_p.G584R|ACSL5_ENST00000354273.4_Missense_Mutation_p.G584R|ACSL5_ENST00000356116.1_Missense_Mutation_p.G640R|ACSL5_ENST00000369410.3_Missense_Mutation_p.G366R|ACSL5_ENST00000354655.4_Missense_Mutation_p.G584R	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	584					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ATCCTTAGTAGGAGTGGTGGT	0.448000													33	7					0	0	5.1965e-05	0	0
CPXM2	119587	broad.mit.edu	37	10	125539769	125539769	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr10:125539769G>A	ENST00000241305.3	-	7	1046	c.892C>T	c.(892-894)Cct>Tct	p.P298S	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	298					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TAATTATTAGGATCTAGGGAC	0.468000													48	20					0	0	0.000125731	0	0
ACRC	93953	broad.mit.edu	37	X	70823635	70823635	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chrX:70823635G>A	ENST00000373695.1	+	7	1045	c.508G>A	c.(508-510)Gac>Aac	p.D170N	ACRC_ENST00000373696.3_Missense_Mutation_p.D170N			Q96QF7	ACRC_HUMAN	acidic repeat containing	170	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGAAGCTCCCGACGACAACAG	0.502000													93	130					0	0	0.000147903	0	0
COL22A1	169044	broad.mit.edu	37	8	139697492	139697492	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr8:139697492C>T	ENST00000303045.6	-	38	3372	c.2926G>A	c.(2926-2928)Ggg>Agg	p.G976R	COL22A1_ENST00000435777.1_Missense_Mutation_p.G976R|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	976	Collagen-like 8.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGGGAGCCCAGGAGCACCA	0.582000										HNSCC(7;0.00092)			6	36					0	0	8.12818e-05	0	0
ABCC3	8714	broad.mit.edu	37	17	48741454	48741454	+	Silent	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr17:48741454G>A	ENST00000285238.8	+	10	1400	c.1320G>A	c.(1318-1320)gcG>gcA	p.A440A	ABCC3_ENST00000427699.1_Silent_p.A440A	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	440	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TCATCCTGGCGATCTACTTCC	0.552000													32	46					0	0	8.91981e-05	0	0
ARID2	196528	broad.mit.edu	37	12	46233249	46233249	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr12:46233249C>T	ENST00000334344.6	+	11	1640	c.1468C>T	c.(1468-1470)Caa>Taa	p.Q490*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q100*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q341*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	490					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGAGCAAGTCCAAACCCAGAC	0.403000			"""N, S, F"""		hepatocellular carcinoma								53	11					0	0	0.000147903	0	0
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													5	70					0	0	3.59834e-05	0	0
IGFL1	374918	broad.mit.edu	37	19	46733596	46733596	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr19:46733596G>A	ENST00000437936.1	+	3	168	c.145G>A	c.(145-147)Gac>Aac	p.D49N	AC006262.10_ENST00000597337.1_RNA	NM_198541.1	NP_940943.1	Q6UW32	IGFL1_HUMAN	IGF-like family member 1	49						extracellular space	protein binding			lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		CAAGTTCTACGACCCCCTGCA	0.572000													50	60					0	0	0.000147903	0	0
TTBK1	84630	broad.mit.edu	37	6	43227378	43227378	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr6:43227378G>A	ENST00000259750.4	+	12	1441	c.1358G>A	c.(1357-1359)aGg>aAg	p.R453K	TTBK1_ENST00000304139.5_Missense_Mutation_p.R402K	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	453						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CGCTACCGGAGGGTGAACAGC	0.682000													5	7					0	0	3.59834e-05	0	0
SLIT3	6586	broad.mit.edu	37	5	168199840	168199840	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr5:168199840G>A	ENST00000519560.1	-	14	1824	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*	SLIT3_ENST00000332966.8_Nonsense_Mutation_p.R469*|SLIT3_ENST00000404867.3_Nonsense_Mutation_p.R469*	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	469	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.R469*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGGCGAGTCGGCGCGGGCTG	0.602000													28	24					0	0	0.000117367	0	0
CACNA1B	774	broad.mit.edu	37	9	140870378	140870378	+	Silent	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr9:140870378C>T	ENST00000371372.1	+	12	1708	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	CACNA1B_ENST00000371363.1_Silent_p.F521F|CACNA1B_ENST00000277551.2_Silent_p.F521F|CACNA1B_ENST00000371357.1_Silent_p.F522F|CACNA1B_ENST00000371355.4_Silent_p.F522F|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	521					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGTTTGTTTTCCTGGGTCTCT	0.562000													10	18					0	0	6.40141e-05	0	0
WNK3	65267	broad.mit.edu	37	X	54263821	54263821	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chrX:54263821G>A	ENST00000354646.2	-	20	4616	c.4178C>T	c.(4177-4179)tCg>tTg	p.S1393L	WNK3_ENST00000375159.2_Missense_Mutation_p.S1393L|WNK3_ENST00000375169.3_Missense_Mutation_p.S1346L	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1346					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.S1393*(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ATAAGAAAACGAAGTTTTTGG	0.378000													40	68					0	0	4.2857e-05	0	0
SFPQ	6421	broad.mit.edu	37	1	35656521	35656521	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr1:35656521G>A	ENST00000357214.5	-	3	1191	c.1093C>T	c.(1093-1095)Cgc>Tgc	p.R365C		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	365	RRM 1.				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GTGGCAAAGCGAACTCGAAGC	0.443000			T	TFE3	papillary renal cell								25	11					0	0	5.49717e-05	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110413798	110413798	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr8:110413798C>T	ENST00000378402.5	+	14	1458	c.1354C>T	c.(1354-1356)Cat>Tat	p.H452Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	452					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGATGATATTCATCTGCAGAA	0.318000										HNSCC(38;0.096)			11	13					0	0	0.000151284	0	0
BRWD3	254065	broad.mit.edu	37	X	79978275	79978275	+	Silent	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chrX:79978275C>T	ENST00000373275.4	-	17	1878	c.1662G>A	c.(1660-1662)caG>caA	p.Q554Q		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	554										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GGAAGAACATCTGATCTGGAA	0.373000													24	27					0	0	9.22233e-05	0	0
OR4X1	390113	broad.mit.edu	37	11	48286114	48286114	+	Silent	SNP	C	C	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr11:48286114C>A	ENST00000320048.1	+	1	702	c.702C>A	c.(700-702)gcC>gcA	p.A234A		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						AGCACAAGGCCCTCTCCACCT	0.542000													29	40					3.73988e-18	3.2724e-16	0.000147802	1	0
XYLB	9942	broad.mit.edu	37	3	38417660	38417660	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr3:38417660C>T	ENST00000207870.3	+	13	1147	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C	XYLB_ENST00000542835.1_Missense_Mutation_p.R216C	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	353					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GTCTGTATCCCGTTCCTGGAG	0.562000													47	80					0	0	0.000147903	0	0
OR4K5	79317	broad.mit.edu	37	14	20389211	20389211	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr14:20389211G>T	ENST00000315915.4	+	1	471	c.446G>T	c.(445-447)tGg>tTg	p.W149L		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGATCTCCTGGGCTGTGAGC	0.438000													50	58					2.27781e-18	2.01104e-16	0.000147903	1	0
OR4X1	390113	broad.mit.edu	37	11	48286113	48286113	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr11:48286113C>T	ENST00000320048.1	+	1	701	c.701C>T	c.(700-702)gCc>gTc	p.A234V		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CAGCACAAGGCCCTCTCCACC	0.547000													28	39					0	0	0.000117367	0	0
TKT	7086	broad.mit.edu	37	3	53260800	53260800	+	Silent	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr3:53260800G>A	ENST00000462138.1	-	13	1756	c.1668C>T	c.(1666-1668)atC>atT	p.I556I	TKT_ENST00000296289.6_Silent_p.I509I|TKT_ENST00000423525.2_Silent_p.I556I|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Silent_p.I564I			P29401	TKT_HUMAN	transketolase	556					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	CCACGGTGAGGATCCTGCCCT	0.587000													25	24					0	0	4.16121e-05	0	0
BCL11A	53335	broad.mit.edu	37	2	60688288	60688288	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr2:60688288C>T	ENST00000335712.6	-	4	1986	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.E553K|BCL11A_ENST00000358510.4_Missense_Mutation_p.E553K|BCL11A_ENST00000356842.4_Missense_Mutation_p.E587K|BCL11A_ENST00000537768.1_Missense_Mutation_p.E256K	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	587					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			ACCGAGTCTTCGTCGCAAGTG	0.672000			T	IGH@	B-CLL								80	24					0	0	0.000147903	0	0
LYPD6B	130576	broad.mit.edu	37	2	150071082	150071082	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr2:150071082G>A	ENST00000409642.3	+	7	883	c.482G>A	c.(481-483)gGa>gAa	p.G161E	LYPD6B_ENST00000409876.1_Missense_Mutation_p.G137E|LYPD6B_ENST00000409029.1_Missense_Mutation_p.G137E|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_Missense_Mutation_p.G161E	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	137						anchored to membrane|plasma membrane				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						TGCTGTGAAGGAATGATCTGC	0.433000													32	38					0	0	2.86225e-05	0	0
C11orf84	144097	broad.mit.edu	37	11	63586327	63586327	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr11:63586327C>T	ENST00000294244.4	+	5	1086	c.787C>T	c.(787-789)Cga>Tga	p.R263*		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	263										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						AGCCGAGGTCCGACACTTCAC	0.622000													24	44					0	0	0.000147802	0	0
CACNA1D	776	broad.mit.edu	37	3	53529193	53529195	+	Translation_Start_Site	DEL	GAT	GAT	-			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr3:53529193_53529195delGAT	ENST00000288139.3	+	0	118_120				CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581													7	82	---	---	---	---					
FREM2	341640	broad.mit.edu	37	13	39261568	39261570	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-BF-A1PU-01A-11D-A19A-08	TCGA-BF-A1PU-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30ba63c3-2425-434a-ae62-d4fe1479f3c0	b53844f5-2249-4ce5-9ea7-e7a0286ee5ec	g.chr13:39261568_39261570delGCT	ENST00000280481.7	+	1	303_305	c.87_89delGCT	c.(85-90)cgg>cg	p.RL29del		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	29					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CGCCGCCCCGgctgctgctgctg	0.695													2	4	---	---	---	---					
