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
OR8K5	219453	broad.mit.edu	37	11	55927730	55927730	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:55927730C>A	ENST00000313447.1	-	1	63	c.64G>T	c.(64-66)Gag>Tag	p.E22*		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATCTGCAGCTCAGGCCGCCTT	0.453000													20	50					1.96895e-08	2.52731e-08	1	1	0
PRR4	11272	broad.mit.edu	37	12	10999791	10999791	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:10999791T>C	ENST00000540107.1	-	3	140	c.103A>G	c.(103-105)Acg>Gcg	p.T35A	PRR4_ENST00000228811.4_Silent_p.Q92Q|PRR4_ENST00000544994.1_Intron|PRR4_ENST00000536668.1_5'UTR			Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	35					visual perception	extracellular space				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						GGGGTGGTCGTTGCTGATTTT	0.542000													43	103					0	0	1	0	0
USF1	7391	broad.mit.edu	37	1	161011631	161011631	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:161011631C>A	ENST00000368021.3	-	6	486	c.282G>T	c.(280-282)gtG>gtT	p.V94V	USF1_ENST00000435396.1_Silent_p.V35V|USF1_ENST00000368019.1_Silent_p.V94V|USF1_ENST00000368020.1_Silent_p.V94V	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	94					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CACCCTGGATCACCGCCTGGG	0.537000													34	37					9.45814e-24	1.64323e-23	1	1	0
PRB2	653247	broad.mit.edu	37	12	11546430	11546430	+	Silent	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:11546430G>A	ENST00000389362.4	-	3	617	c.582C>T	c.(580-582)ccC>ccT	p.P194P	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GAGGAGGTGGGGGACCTTGGG	0.607000													5	259					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10102481	10102481	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:10102481C>A	ENST00000264828.3	-	23	2015	c.1930G>T	c.(1930-1932)Gga>Tga	p.G644*		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	644	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCATGGTTTCCCTGCTGTCCC	0.552000													19	52					1.10923e-09	1.50227e-09	1	1	0
KLHL1	57626	broad.mit.edu	37	13	70681625	70681625	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr13:70681625C>A	ENST00000377844.4	-	1	966	c.207G>T	c.(205-207)tgG>tgT	p.W69C	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	69	Ser-rich.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		aagGCTTCTTCCAGAAAGTGC	0.587000													22	36					4.72057e-08	6.01436e-08	1	1	0
FLNC	2318	broad.mit.edu	37	7	128470746	128470746	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr7:128470746G>A	ENST00000325888.8	+	1	316	c.55G>A	c.(55-57)Gac>Aac	p.D19N	FLNC_ENST00000346177.6_Missense_Mutation_p.D19N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	19	Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGATGAGACAGACGAGATGCC	0.657000													8	15					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55110862	55110862	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:55110862C>A	ENST00000314721.2	+	1	236	c.186C>A	c.(184-186)gcC>gcA	p.A62A		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TCTTCCTTGCCTACTTGTCAC	0.428000													36	79					1.57945e-13	2.34195e-13	1	1	0
OPCML	4978	broad.mit.edu	37	11	132307171	132307171	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:132307171G>T	ENST00000331898.7	-	4	1187	c.609C>A	c.(607-609)agC>agA	p.S203R	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.S162R|OPCML_ENST00000541867.1_Missense_Mutation_p.S203R|OPCML_ENST00000524381.1_Missense_Mutation_p.S196R	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	203	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CGTTCAACGCGCTGCATTCGT	0.542000													13	41					2.27111e-07	2.83066e-07	1	1	0
MARS2	92935	broad.mit.edu	37	2	198570447	198570447	+	Silent	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:198570447G>T	ENST00000282276.6	+	1	361	c.318G>T	c.(316-318)gcG>gcT	p.A106A	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	106					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CAGCTACCGCGGGCCTGGCCC	0.662000													15	26					2.23348e-06	2.68643e-06	1	1	0
SNAP91	9892	broad.mit.edu	37	6	84301006	84301006	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr6:84301006A>T	ENST00000428679.2	-	22	2531	c.1938T>A	c.(1936-1938)ttT>ttA	p.F646L	SNAP91_ENST00000439399.2_Missense_Mutation_p.F646L|SNAP91_ENST00000195649.6_Missense_Mutation_p.F646L|SNAP91_ENST00000521743.1_Missense_Mutation_p.F646L|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520302.1_Missense_Mutation_p.F616L|SNAP91_ENST00000369694.2_Missense_Mutation_p.F646L|SNAP91_ENST00000521485.1_Missense_Mutation_p.F646L|SNAP91_ENST00000520213.1_Intron			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	646					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CACTACTTCCAAATGCATCTA	0.378000													21	21					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788419	42788419	+	Silent	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr20:42788419G>A	ENST00000372980.3	-	2	1880	c.1008C>T	c.(1006-1008)cgC>cgT	p.R336R		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	336					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGCCCTCCTCGCGGTGGCCGT	0.657000													10	27					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923451	24923451	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr15:24923451G>T	ENST00000329468.2	+	1	2911	c.2437G>T	c.(2437-2439)Gca>Tca	p.A813S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TGCCTCTGCAGCATCGTTATC	0.522000													39	74					7.05121e-23	1.2008e-22	1	1	0
NTNG1	22854	broad.mit.edu	37	1	107973521	107973521	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:107973521G>A	ENST00000370068.1	+	6	2083	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000370072.3_Missense_Mutation_p.D413N|NTNG1_ENST00000542803.1_Missense_Mutation_p.D413N|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370065.1_Missense_Mutation_p.D413N|NTNG1_ENST00000370073.2_Missense_Mutation_p.D413N|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370074.4_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	413	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ACAACTGGACGATGAGAATGT	0.458000													7	20					0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125613429	125613429	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr9:125613429G>A	ENST00000373670.1	-	19	3911	c.3311C>T	c.(3310-3312)cCa>cTa	p.P1104L	RC3H2_ENST00000357244.2_Missense_Mutation_p.P1104L			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	1104						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTGCTGTACTGGATGCCCATT	0.388000													26	64					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222294680	222294680	+	Silent	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:222294680G>T	ENST00000281821.2	-	15	2729	c.2688C>A	c.(2686-2688)tcC>tcA	p.S896S	EPHA4_ENST00000392071.4_Silent_p.S845S|EPHA4_ENST00000409854.1_Silent_p.S896S|EPHA4_ENST00000409938.1_Silent_p.S896S	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	896						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGGCTGACCTGGAGCTCTCCG	0.488000													41	90					5.82388e-19	9.36176e-19	1	1	0
BCHE	590	broad.mit.edu	37	3	165548239	165548239	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:165548239C>A	ENST00000264381.3	-	2	749	c.583G>T	c.(583-585)Ggt>Tgt	p.G195C	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	195					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TCAAATAAACCCATGTTCCCT	0.443000													10	19					0.00829132	0.00864307	1	1	0
FAT3	120114	broad.mit.edu	37	11	92085848	92085848	+	Silent	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:92085848T>C	ENST00000298047.6	+	1	587	c.570T>C	c.(568-570)aaT>aaC	p.N190N	FAT3_ENST00000409404.2_Silent_p.N190N|FAT3_ENST00000541502.1_Silent_p.N190N|FAT3_ENST00000525166.1_Silent_p.N40N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	190	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTGGTTCCAATGGAGAATTCT	0.403000										TCGA Ovarian(4;0.039)			5	20					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35700661	35700661	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:35700661G>T	ENST00000440995.2	+	16	2190	c.2190G>T	c.(2188-2190)caG>caT	p.Q730H	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.Q735H|SPEF2_ENST00000509059.1_Missense_Mutation_p.Q730H			Q9C093	SPEF2_HUMAN	sperm flagellar 2	735					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACCAAGCACAGCTTCTGGAAG	0.383000													20	14					8.10497e-08	1.01756e-07	1	1	0
NALCN	259232	broad.mit.edu	37	13	101728293	101728293	+	Splice_Site	SNP	C	C	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr13:101728293C>G	ENST00000251127.6	-	35	3967		c.e35-1			NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective							integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TATATGCATTCTGAAATTTAA	0.313000													15	29					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582000													5	84					0	0	1	0	0
RS1	6247	broad.mit.edu	37	X	18675776	18675776	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:18675776C>A	ENST00000379984.3	-	2	102	c.62G>T	c.(61-63)gGa>gTa	p.G21V		NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	21					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)					AGACGATAATCCCAATGTGGC	0.338000													10	38					4.3838e-07	5.42456e-07	1	1	0
DCN	1634	broad.mit.edu	37	12	91550864	91550864	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:91550864T>A	ENST00000052754.5	-	5	1141	c.640A>T	c.(640-642)Agc>Tgc	p.S214C	DCN_ENST00000393155.1_Missense_Mutation_p.S214C|DCN_ENST00000420120.2_Missense_Mutation_p.S105C|DCN_ENST00000547568.2_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000228329.5_Missense_Mutation_p.S105C|DCN_ENST00000425043.1_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.S214C|DCN_ENST00000303320.3_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	214					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TGAGGAATGCTGGTGATATTG	0.378000													10	40					0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782278	54782278	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:54782278G>T	ENST00000391748.1	-	7	1221	c.1094C>A	c.(1093-1095)cCa>cAa	p.P365Q	LILRB2_ENST00000314446.5_Missense_Mutation_p.P365Q|LILRB2_ENST00000434421.1_Missense_Mutation_p.P249Q|LILRB2_ENST00000391746.1_Missense_Mutation_p.P365Q|LILRB2_ENST00000391749.4_Missense_Mutation_p.P365Q	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	365	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TAGACGGAGTGGGGCATCAGC	0.582000													36	90					2.00842e-17	3.14044e-17	1	1	0
ITPR3	3710	broad.mit.edu	37	6	33658712	33658712	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr6:33658712C>T	ENST00000374316.5	+	53	8111	c.7051C>T	c.(7051-7053)Cgc>Tgc	p.R2351C	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2351C			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2351					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CCTCATCTACCGCGAGGAGAC	0.607000													10	47					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058108	56058108	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:56058108A>G	ENST00000313022.2	-	1	458	c.431T>C	c.(430-432)gTc>gCc	p.V144A		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GGGCCCAGTGACAAGAGCGCA	0.438000													7	24					0	0	1	0	0
HRH2	3274	broad.mit.edu	37	5	175110541	175110541	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:175110541G>T	ENST00000231683.2	+	1	2078	c.305G>T	c.(304-306)tGc>tTc	p.C102F	HRH2_ENST00000377291.2_Missense_Mutation_p.C102F	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	102					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	GTGATGCTCTGCACAGCCTCC	0.567000													12	34					5.50884e-06	6.35919e-06	1	1	0
ZNF491	126069	broad.mit.edu	37	19	11916992	11916992	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:11916992A>G	ENST00000323169.5	+	3	555	c.224A>G	c.(223-225)tAt>tGt	p.Y75C	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						GAGAAGCCATATAAACATAAA	0.393000													8	20					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22256306	22256306	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:22256306C>G	ENST00000594947.1	+	3	310	c.166C>G	c.(166-168)Ctg>Gtg	p.L56V	ZNF257_ENST00000600162.1_Missense_Mutation_p.L56V	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GATCACCTGTCTGGAGCAAGG	0.423000													24	69					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57861141	57861141	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:57861141C>A	ENST00000228682.2	+	9	1029	c.938C>A	c.(937-939)tCa>tAa	p.S313*	GLI1_ENST00000543426.1_Nonsense_Mutation_p.S185*|GLI1_ENST00000546141.1_Nonsense_Mutation_p.S272*	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	313					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AAGTCATACTCACGCCTCGAA	0.537000													12	39					5.50884e-06	6.35919e-06	1	1	0
CYP2J2	1573	broad.mit.edu	37	1	60377303	60377303	+	Silent	SNP	A	A	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:60377303A>G	ENST00000371204.3	-	4	704	c.661T>C	c.(661-663)Ttg>Ctg	p.L221L	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	221					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					GAAGCCTCCAAGTATGTGACT	0.448000													9	51					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39494786	39494786	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr8:39494786G>T	ENST00000265707.5	+	8	637	c.592G>T	c.(592-594)Gat>Tat	p.D198Y	ADAM18_ENST00000379866.1_Intron|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	198	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTTCAGTATGATTATATGGG	0.274000													10	22					6.40141e-05	7.1035e-05	1	1	0
ZNF678	339500	broad.mit.edu	37	1	227842503	227842503	+	Silent	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:227842503T>C	ENST00000343776.4	+	4	897	c.552T>C	c.(550-552)gaT>gaC	p.D184D	ZNF678_ENST00000397097.3_Silent_p.D239D|ZNF678_ENST00000498759.1_Intron			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	239					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ACAAATGTGATGAATGTGACA	0.368000													4	117					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7721577	7721577	+	Silent	SNP	T	T	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr16:7721577T>A	ENST00000355637.4	+	10	1221	c.969T>A	c.(967-969)ccT>ccA	p.P323P	RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000311745.5_Silent_p.P323P|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000340209.4_Intron|RBFOX1_ENST00000436368.2_Silent_p.P323P|RBFOX1_ENST00000547372.1_Intron	NM_145893.2	NP_665900.1	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	303					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.P323P(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						ATCAAGAGCCTGTGTATGGCA	0.348000													3	28					0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6260686	6260686	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:6260686C>A	ENST00000379936.2	+	2	250	c.135C>A	c.(133-135)gtC>gtA	p.V45V	CNGA4_ENST00000533426.1_Silent_p.V5V	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	45					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTCCCAGTCATGTATAACC	0.498000													35	92					1.67305e-13	2.45952e-13	1	1	0
DEFA6	1671	broad.mit.edu	37	8	6783429	6783429	+	Silent	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr8:6783429C>T	ENST00000297436.2	-	1	169	c.129G>A	c.(127-129)ggG>ggA	p.G43G		NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	43					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GGTCATTTGCCCCACGCTGCT	0.552000													3	9					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241724433	241724433	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:241724433G>C	ENST00000498729.2	-	7	939	c.693C>G	c.(691-693)gaC>gaG	p.D231E	KIF1A_ENST00000320389.7_Missense_Mutation_p.D231E	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	231	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	p.D231E(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGGTCTCTGCGTCATGGCGCT	0.607000													26	89					0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113704290	113704290	+	Silent	SNP	T	T	C	rs145661148		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr9:113704290T>C	ENST00000374431.3	-	4	587	c.204A>G	c.(202-204)ctA>ctG	p.L68L	LPAR1_ENST00000374430.2_Silent_p.L68L|LPAR1_ENST00000541779.1_Silent_p.L69L|LPAR1_ENST00000538760.1_Silent_p.L69L|LPAR1_ENST00000358883.4_Silent_p.L68L	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	68					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CCATGACCAATAGGTTGGCCA	0.468000													14	46					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125843207	125843207	+	Splice_Site	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:125843207C>A	ENST00000393434.2	-	16	2237	c.1888_splice	c.e16+1	p.G630_splice	ALDH1L1_ENST00000452905.2_Splice_Site_p.G529_splice|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Splice_Site_p.G630_splice|ALDH1L1_ENST00000273450.3_Splice_Site_p.G640_splice	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	630	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGGCTCTTACCAGATCCTGGG	0.592000													20	86					1.50039e-11	2.13279e-11	1	1	0
BICD1	636	broad.mit.edu	37	12	32480566	32480566	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:32480566G>T	ENST00000548411.1	+	5	1358	c.1177G>T	c.(1177-1179)Ggg>Tgg	p.G393W	BICD1_ENST00000281474.5_Missense_Mutation_p.G393W	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	393					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TGAGCTGGACGGGGAGAAGGG	0.582000													8	14					1.12685e-05	1.29212e-05	1	1	0
PLEC	5339	broad.mit.edu	37	8	145011192	145011192	+	Silent	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr8:145011192G>A	ENST00000322810.4	-	5	970	c.801C>T	c.(799-801)ccC>ccT	p.P267P	PLEC_ENST00000354589.3_Silent_p.P130P|PLEC_ENST00000345136.3_Silent_p.P130P|PLEC_ENST00000398774.2_Silent_p.P98P|PLEC_ENST00000356346.3_Silent_p.P116P|PLEC_ENST00000357649.2_Silent_p.P134P|PLEC_ENST00000436759.2_Silent_p.P157P|PLEC_ENST00000527096.1_Silent_p.P157P|PLEC_ENST00000354958.2_Silent_p.P108P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	267	Actin-binding.|CH 1.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGTCAGCTTGGGGTTGCCGT	0.617000													15	61					0	0	1	0	0
ARSI	340075	broad.mit.edu	37	5	149677134	149677134	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:149677134G>T	ENST00000328668.7	-	2	1932	c.1353C>A	c.(1351-1353)aaC>aaA	p.N451K		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	451						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCGTTCCAGGTTCCACCAGC	0.632000													12	23					6.31663e-08	7.98868e-08	1	1	0
STRN	6801	broad.mit.edu	37	2	37088298	37088298	+	Missense_Mutation	SNP	T	T	C	rs112595766		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:37088298T>C	ENST00000263918.4	-	13	1654	c.1646A>G	c.(1645-1647)aAc>aGc	p.N549S	STRN_ENST00000379213.2_Missense_Mutation_p.N500S	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	549					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GGGGTCGATGTTGGGATTAGT	0.403000													12	34					0	0	1	0	0
EPC1	80314	broad.mit.edu	37	10	32576084	32576084	+	Missense_Mutation	SNP	T	T	C	rs149122944	byFrequency	TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:32576084T>C	ENST00000319778.6	-	7	1396	c.1094A>G	c.(1093-1095)aAt>aGt	p.N365S	EPC1_ENST00000375110.2_Missense_Mutation_p.N315S|EPC1_ENST00000263062.8_Missense_Mutation_p.N365S	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	365					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				ATCTTTAGCATTGAAGACTGG	0.473000													12	47					0	0	1	0	0
GABPB1	2553	broad.mit.edu	37	15	50581768	50581768	+	Silent	SNP	T	T	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr15:50581768T>A	ENST00000380877.3	-	7	1218	c.795A>T	c.(793-795)acA>acT	p.T265T	GABPB1_ENST00000429662.2_Silent_p.T277T|GABPB1_ENST00000560825.1_Silent_p.T264T|GABPB1_ENST00000359031.4_Silent_p.T265T|GABPB1_ENST00000220429.8_Silent_p.T277T|GABPB1_ENST00000396464.3_Silent_p.T265T|GABPB1_ENST00000543881.1_Silent_p.T201T	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	277	Transcription activation and HCFC1 interaction.				positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						GAATTCCATCTGTAACTATTG	0.448000													16	48					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49934039	49934039	+	Silent	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:49934039C>T	ENST00000296474.3	-	9	2400	c.2373G>A	c.(2371-2373)caG>caA	p.Q791Q	MST1R_ENST00000344206.4_Silent_p.Q791Q	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	791	IPT/TIG 3.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AAGTTAGATGCTGGCCACAGA	0.567000													20	26					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8997417	8997417	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:8997417C>A	ENST00000397910.4	-	59	41208	c.41005G>T	c.(41005-41007)Ggc>Tgc	p.G13669C	MUC16_ENST00000380951.5_Missense_Mutation_p.G310C	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13671	SEA 11.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTACCAGGCCCTGAAGGACC	0.552000													31	61					6.70999e-13	9.69847e-13	1	1	0
CPVL	54504	broad.mit.edu	37	7	29103807	29103807	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr7:29103807G>A	ENST00000409850.1	-	15	1653	c.1007C>T	c.(1006-1008)cCa>cTa	p.P336L	CPVL_ENST00000396276.3_Missense_Mutation_p.P336L|CPVL_ENST00000265394.5_Missense_Mutation_p.P336L			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	336					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TCTCACCTCTGGGAGTGACAA	0.438000													10	18					0	0	1	0	0
STK32C	282974	broad.mit.edu	37	10	134040358	134040358	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:134040358C>A	ENST00000368622.1	-	4	615	c.234G>T	c.(232-234)ctG>ctT	p.L78L	STK32C_ENST00000368625.4_Silent_p.L208L			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	195							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CGCAGATGTACAGCCTCACCG	0.627000													16	37					5.3912e-06	6.35128e-06	1	1	0
CYP4F12	66002	broad.mit.edu	37	19	15794303	15794303	+	Splice_Site	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:15794303G>T	ENST00000550308.1	+	7	1028	c.647_splice	c.e7-1	p.E216_splice	CYP4F12_ENST00000324632.9_Splice_Site_p.E216_splice	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TGCTCTGCAGGAGGCCCAGTG	0.517000													20	57					4.26978e-12	6.12001e-12	1	1	0
CFHR4	10877	broad.mit.edu	37	1	196871712	196871712	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:196871712C>A	ENST00000367416.2	+	2	357	c.220C>A	c.(220-222)Caa>Aaa	p.Q74K	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.Q75K|CFHR4_ENST00000367418.1_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TCATTGCACACAAGATGGTTG	0.383000													41	74					2.24722e-20	3.71656e-20	1	1	0
SNTG1	54212	broad.mit.edu	37	8	51363285	51363285	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr8:51363285A>T	ENST00000522124.1	+	8	1020	c.359A>T	c.(358-360)gAa>gTa	p.E120V	SNTG1_ENST00000517473.1_Missense_Mutation_p.E120V|SNTG1_ENST00000276467.5_Missense_Mutation_p.E120V|SNTG1_ENST00000518864.1_Missense_Mutation_p.E120V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	120	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGACATGAAGAAGTGGTGAGT	0.333000													4	18					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16149958	16149958	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr16:16149958A>T	ENST00000399408.2	+	12	1658	c.1483A>T	c.(1483-1485)Atg>Ttg	p.M495L	ABCC1_ENST00000349029.5_Missense_Mutation_p.M495L|ABCC1_ENST00000399410.3_Missense_Mutation_p.M495L|ABCC1_ENST00000351154.5_Missense_Mutation_p.M495L|ABCC1_ENST00000345148.5_Missense_Mutation_p.M495L|ABCC1_ENST00000346370.5_Missense_Mutation_p.M495L			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	495	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGTGGCCCACATGAAGAGCAA	0.473000													4	35					0	0	1	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162842	33162842	+	RNA	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:33162842G>A	ENST00000510327.1	-	0	346																											TGGCCGAGCAGATGGCTATGT	0.483000													6	29					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95669278	95669278	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr14:95669278C>A	ENST00000298912.4	-	9	2521	c.2408G>T	c.(2407-2409)gGt>gTt	p.G803V		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	803						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		ACCCACACCACCCCTGCTGAG	0.627000													18	32					2.4624e-09	3.2832e-09	1	1	0
ZCCHC12	170261	broad.mit.edu	37	X	117960178	117960178	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:117960178G>T	ENST00000310164.2	+	4	1478	c.971G>T	c.(970-972)gGt>gTt	p.G324V		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ACCAGTGGTGGTTCTGGCTAT	0.542000													30	65					1.36161e-19	2.23045e-19	1	1	0
SLC19A3	80704	broad.mit.edu	37	2	228552263	228552263	+	Silent	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:228552263T>C	ENST00000258403.3	-	6	1412	c.1341A>G	c.(1339-1341)gcA>gcG	p.A447A	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Silent_p.A443A	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	447					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	p.A447A(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CAGCAATTACTGCAAAATAGC	0.353000													7	19					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33572462	33572462	+	Silent	SNP	G	G	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:33572462G>C	ENST00000404816.2	+	26	4238	c.3885G>C	c.(3883-3885)ggG>ggC	p.G1295G	LTBP1_ENST00000418533.2_Silent_p.G927G|LTBP1_ENST00000390003.4_Silent_p.G970G|LTBP1_ENST00000354476.3_Silent_p.G1296G|LTBP1_ENST00000404525.1_Silent_p.G916G|LTBP1_ENST00000272273.5_Silent_p.G193G|LTBP1_ENST00000402934.1_Silent_p.G916G|LTBP1_ENST00000407925.1_Silent_p.G969G			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1295	EGF-like 14; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGCTCAGTGGGGTGTGTGGTG	0.517000													20	37					0	0	1	0	0
EIF3L	51386	broad.mit.edu	37	22	38259297	38259297	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr22:38259297C>G	ENST00000412331.2	+	7	1106	c.524C>G	c.(523-525)cCc>cGc	p.P175R	EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000406934.1_Missense_Mutation_p.P77R|EIF3L_ENST00000476955.1_Intron	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	175						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGTCCTGCTCCCCTTGAACTA	0.463000													21	39					0	0	1	0	0
RGS18	64407	broad.mit.edu	37	1	192127884	192127884	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:192127884C>A	ENST00000367460.3	+	1	298	c.117C>A	c.(115-117)atC>atA	p.I39I	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	39					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGCCAAAATCAGGTAAAATT	0.279000													9	25					1.76689e-08	2.30232e-08	1	1	0
GRM6	2916	broad.mit.edu	37	5	178418469	178418469	+	Silent	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:178418469G>T	ENST00000231188.5	-	3	991	c.813C>A	c.(811-813)ccC>ccA	p.P271P	GRM6_ENST00000517717.1_Silent_p.P271P	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	271					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCCGGGCGTTGGGCGTCTCCA	0.597000													32	79					6.05902e-23	1.04215e-22	1	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37431050	37431050	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:37431050G>C	ENST00000374660.1	+	7	1156	c.1057G>C	c.(1057-1059)Gca>Cca	p.A353P	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	409						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A353P(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGGCAGCAAAAGG	0.408000													3	46					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236891020	236891020	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:236891020C>G	ENST00000366578.4	+	6	745	c.579C>G	c.(577-579)caC>caG	p.H193Q	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.H193Q	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	193	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TCCACCGACACCGGCCTGACC	0.542000													11	65					0	0	1	0	0
ZNF639	51193	broad.mit.edu	37	3	179051622	179051622	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:179051622G>T	ENST00000326361.3	+	7	1315	c.870G>T	c.(868-870)tgG>tgT	p.W290C	ZNF639_ENST00000484866.1_Missense_Mutation_p.W290C|ZNF639_ENST00000496856.1_Missense_Mutation_p.W290C	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	290					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ACCTCTATTGGTGTGAACAGT	0.418000													30	53					2.20474e-14	3.38584e-14	1	1	0
OR8K3	219473	broad.mit.edu	37	11	56086307	56086307	+	Silent	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:56086307T>C	ENST00000312711.1	+	1	525	c.525T>C	c.(523-525)agT>agC	p.S175S		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ACGTCATTAGTCATTTCTACT	0.353000													16	27					0	0	1	0	0
LRRC2	79442	broad.mit.edu	37	3	46593050	46593050	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:46593050G>A	ENST00000395905.3	-	2	424	c.32C>T	c.(31-33)tCt>tTt	p.S11F	LRRC2_ENST00000496388.1_Intron|LRRC2_ENST00000296144.3_Missense_Mutation_p.S11F	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	11										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TCTGATGACAGAAATGTCGAA	0.413000													9	38					0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820222	50820222	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:50820222G>T	ENST00000374115.3	+	1	1876	c.1436G>T	c.(1435-1437)cGt>cTt	p.R479L	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	479					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						ACGCGCTCCCGTTCCGAGCGC	0.657000													7	22					0.00198382	0.00211936	1	1	0
UNC13A	23025	broad.mit.edu	37	19	17778956	17778956	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:17778956C>A	ENST00000428389.2	-	7	701	c.702G>T	c.(700-702)gaG>gaT	p.E234D	UNC13A_ENST00000252773.7_Missense_Mutation_p.E146D|UNC13A_ENST00000519716.2_Missense_Mutation_p.E146D|UNC13A_ENST00000551649.1_Missense_Mutation_p.E146D|UNC13A_ENST00000550896.1_Missense_Mutation_p.E146D|UNC13A_ENST00000552293.1_Missense_Mutation_p.E146D			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	146					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CATTGAGCTGCTCCAGCTTCT	0.557000													8	20					6.40141e-05	7.1035e-05	1	1	0
DSG4	147409	broad.mit.edu	37	18	28989467	28989467	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr18:28989467C>A	ENST00000359747.4	+	13	2015	c.1986C>A	c.(1984-1986)ggC>ggA	p.G662G	DSG4_ENST00000308128.4_Silent_p.G662G|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	662					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGCCAGAAGGCCTGGGAACAA	0.532000													36	40					3.3946e-10	4.67097e-10	1	1	0
CRAMP1L	57585	broad.mit.edu	37	16	1712802	1712802	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr16:1712802G>T	ENST00000397412.3	+	13	2735	c.2636G>T	c.(2635-2637)cGg>cTg	p.R879L	CRAMP1L_ENST00000262317.4_Missense_Mutation_p.R257L|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.R879L|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.R876L			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	879						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CGGAAGCTGCGGAACCGGCAC	0.627000													3	14					0.0215528	0.0219354	1	1	0
CKAP5	9793	broad.mit.edu	37	11	46772739	46772739	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:46772739T>C	ENST00000529230.1	-	40	5435	c.5389A>G	c.(5389-5391)Atg>Gtg	p.M1797V	CKAP5_ENST00000354558.3_Missense_Mutation_p.M1737V|CKAP5_ENST00000415402.1_Missense_Mutation_p.M1804V|CKAP5_ENST00000312055.5_Missense_Mutation_p.M1737V			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1797					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TGCTTCATCATCCGGCAGAGA	0.502000													9	34					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89069012	89069012	+	Splice_Site	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:89069012C>A	ENST00000535633.1	-	17	1855		c.e17+1		NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000525196.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ATAGTACTTACCCTCTGTTAT	0.279000													10	27					2.17888e-05	2.46557e-05	1	1	0
TUBAL3	79861	broad.mit.edu	37	10	5435580	5435580	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:5435580C>T	ENST00000380419.3	-	4	1278	c.1241G>A	c.(1240-1242)tGg>tAg	p.W414*	TUBAL3_ENST00000479328.1_Nonsense_Mutation_p.W374*	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	414					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						TCTGAGGTACCAGTGCAGAAA	0.557000													8	25					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145147526	145147526	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:145147526G>T	ENST00000558170.2	-	10	4321	c.3137C>A	c.(3136-3138)tCa>tAa	p.S1046*	ZEB2_ENST00000539609.3_Nonsense_Mutation_p.S1022*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.S1046*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.S1046*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1046						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTGAAGCCTTGAGTGCTCGAT	0.478000													10	29					2.80697e-09	3.68549e-09	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27056169	27056169	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:27056169A>T	ENST00000324856.7	+	2	1536	c.1165A>T	c.(1165-1167)Aag>Tag	p.K389*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.K389*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.K6*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	389					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.K389Q(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCAGATGGGCAAGATGAGACC	0.507000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								21	66					0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69595170	69595170	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:69595170C>A	ENST00000374403.3	+	17	1977	c.1895C>A	c.(1894-1896)aCt>aAt	p.T632N	KIF4A_ENST00000374388.3_Missense_Mutation_p.T632N	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	632					anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						ACAGAGCGTACTGTCTCCAAA	0.413000													22	44					9.39395e-14	1.40501e-13	1	1	0
AKR1C4	1109	broad.mit.edu	37	10	5255089	5255089	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:5255089C>A	ENST00000380448.1	+	9	1066	c.813C>A	c.(811-813)agC>agA	p.S271R	AKR1C4_ENST00000263126.1_Missense_Mutation_p.S271R			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	271					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	TGGCCAAGAGCTACAATGAGC	0.547000													16	44					1.15919e-05	1.3204e-05	1	1	0
MS4A4A	51338	broad.mit.edu	37	11	60059762	60059762	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:60059762G>A	ENST00000355131.3	+	3	272	c.49G>A	c.(49-51)Ggt>Agt	p.G17S	MS4A4A_ENST00000395016.3_Missense_Mutation_p.G17S|MS4A4A_ENST00000337908.4_Missense_Mutation_p.G36S|MS4A4A_ENST00000532114.1_Missense_Mutation_p.G36S	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	36						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						GGCTGGCCCTGGTGTGCCCCA	0.488000													19	43					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507560	155507560	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr4:155507560T>G	ENST00000302053.3	-	5	1099	c.1021A>C	c.(1021-1023)Act>Cct	p.T341P	FGA_ENST00000403106.3_Missense_Mutation_p.T341P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	341					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTACTTCCAGTTCCAGAGCTC	0.587000													4	71					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993708	140993708	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:140993708C>A	ENST00000285879.4	+	4	804	c.518C>A	c.(517-519)tCc>tAc	p.S173Y	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	173							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTCCTCCTCCACTTTAGTG	0.493000										HNSCC(15;0.026)			21	60					1.37657e-19	2.23367e-19	1	1	0
FOXK1	221937	broad.mit.edu	37	7	4798734	4798734	+	Missense_Mutation	SNP	G	G	T	rs138350134		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr7:4798734G>T	ENST00000328914.4	+	6	1297	c.1297G>T	c.(1297-1299)Ggc>Tgc	p.G433C	FOXK1_ENST00000446823.1_Missense_Mutation_p.G270C	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	433					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TCGCTCCGGCGGCCTGCAGAC	0.662000													33	58					7.93934e-33	1.4078e-32	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158627389	158627389	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:158627389G>T	ENST00000368148.3	-	19	2863	c.2683C>A	c.(2683-2685)Ctt>Att	p.L895I	SPTA1_ENST00000368147.3_Missense_Mutation_p.L895I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	895					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGGCTTCAAGATCATTTTGT	0.468000													28	136					1.836e-18	2.924e-18	1	1	0
BST1	683	broad.mit.edu	37	4	15716986	15716986	+	Splice_Site	SNP	T	T	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr4:15716986T>A	ENST00000382346.3	+	6	705		c.e6+2		BST1_ENST00000265016.4_Splice_Site			Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1						humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						CATCAAAGGGTAAGAACACCA	0.393000													5	25					0	0	1	0	0
B4GALT5	9334	broad.mit.edu	37	20	48273160	48273160	+	Nonsense_Mutation	SNP	A	A	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr20:48273160A>C	ENST00000371711.4	-	2	382	c.195T>G	c.(193-195)taT>taG	p.Y65*		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	65					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			GCACCTGCTCATAAACCTGAG	0.468000													12	46					0	0	1	0	0
ZNF622	90441	broad.mit.edu	37	5	16463793	16463793	+	Silent	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:16463793G>A	ENST00000308683.2	-	2	810	c.684C>T	c.(682-684)gaC>gaT	p.D228D		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	228	Glu-rich.					cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CCACCACATCGTCCATTGCTT	0.443000													40	212					0	0	1	0	0
MAZ	4150	broad.mit.edu	37	16	29818879	29818879	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr16:29818879C>T	ENST00000219782.6	+	2	879	c.773C>T	c.(772-774)gCc>gTc	p.A258V	MAZ_ENST00000562337.1_Intron|MAZ_ENST00000322945.6_Missense_Mutation_p.A258V|MAZ_ENST00000545521.1_Missense_Mutation_p.A235V|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000563402.1_Intron	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	258					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						GGCGGCGCTGCCGCAGTGGCC	0.721000													4	5					0	0	1	0	0
TMEM181	57583	broad.mit.edu	37	6	159029488	159029488	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr6:159029488G>A	ENST00000367090.3	+	9	1219	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	403					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		CACGGGATTCGTGTCCAGGTG	0.602000													28	51					0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21932597	21932597	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:21932597C>A	ENST00000542643.2	-	19	1692	c.1390G>T	c.(1390-1392)Gcg>Tcg	p.A464S	RAP1GAP_ENST00000374761.2_Missense_Mutation_p.A495S|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.A464S|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.A528S|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.A464S	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	464					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TTGTTGGGCGCGAAGCTCCCG	0.682000													2	1					1	1	1	1	0
NCF4	4689	broad.mit.edu	37	22	37266471	37266471	+	Silent	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr22:37266471G>T	ENST00000397147.4	+	5	541	c.357G>T	c.(355-357)ctG>ctT	p.L119L	CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000248899.6_Silent_p.L119L	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	119	PX.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TGCTCAGCCTGCCGGTCTGGG	0.637000													17	36					6.44725e-10	8.80101e-10	1	1	0
COL7A1	1294	broad.mit.edu	37	3	48622506	48622506	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:48622506G>A	ENST00000328333.8	-	32	4045	c.3938C>T	c.(3937-3939)gCc>gTc	p.A1313V	COL7A1_ENST00000454817.1_Missense_Mutation_p.A1313V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1313	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGATTCCCGGCGCGGCCAGG	0.682000													8	8					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106737227	106737227	+	Silent	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:106737227G>T	ENST00000369701.3	+	4	1157	c.930G>T	c.(928-930)gtG>gtT	p.V310V		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	310						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGGACTGGGTGCTGGCCTACA	0.443000													8	22					3.07112e-06	3.64298e-06	1	1	0
UCK2	7371	broad.mit.edu	37	1	165865506	165865506	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:165865506C>A	ENST00000367879.4	+	4	739	c.436C>A	c.(436-438)Cga>Aga	p.R146R	RP11-525G13.2_ENST00000455257.1_RNA|UCK2_ENST00000372212.4_Intron	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	146					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCAGGAGGTACGAGACCTGTT	0.547000													27	157					1.75199e-13	2.55374e-13	1	1	0
ACVR1C	130399	broad.mit.edu	37	2	158406754	158406754	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:158406754C>A	ENST00000243349.7	-	4	1055	c.695G>T	c.(694-696)tGg>tTg	p.W232L	ACVR1C_ENST00000335450.7_Missense_Mutation_p.W152L|ACVR1C_ENST00000409680.3_Missense_Mutation_p.W182L|ACVR1C_ENST00000348328.5_Intron	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	232	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CTCACGAAACCAAGATCTTTC	0.428000													16	44					2.4624e-09	3.2832e-09	1	1	0
PCDHGA12	26025	broad.mit.edu	37	5	140810956	140810956	+	Silent	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:140810956G>T	ENST00000252085.3	+	1	772	c.630G>T	c.(628-630)ctG>ctT	p.L210L	PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACCACCTGGTCCTTACGG	0.622000													23	37					0.00465635	0.0048999	1	1	0
C5orf15	56951	broad.mit.edu	37	5	133304269	133304269	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:133304269C>A	ENST00000231512.3	-	1	209	c.7G>T	c.(7-9)Gct>Tct	p.A3S	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	3						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			GGGACGGCAGCGGCCATAACG	0.682000													4	10					0.014758	0.0151998	1	1	0
HIP1	3092	broad.mit.edu	37	7	75221730	75221730	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr7:75221730C>T	ENST00000336926.6	-	3	313	c.287G>A	c.(286-288)tGc>tAc	p.C96Y	HIP1_ENST00000434438.2_Missense_Mutation_p.C96Y	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	96	ENTH.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GAACACATGGCAGAACTTCCA	0.577000			T	PDGFRB	CMML								5	17					0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177142395	177142395	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr4:177142395A>T	ENST00000296525.3	-	5	694	c.581T>A	c.(580-582)gTt>gAt	p.V194D	ASB5_ENST00000512254.1_Missense_Mutation_p.V141D	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	194					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TTCTTGGTCAACATCTATGCC	0.438000													14	39					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27950644	27950644	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr9:27950644C>A	ENST00000379992.2	-	6	475	c.26G>T	c.(25-27)tGg>tTg	p.W9L	LINGO2_ENST00000308675.3_Missense_Mutation_p.W9L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	9						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GAATGGCTGCCAGCATGATAT	0.537000													10	21					5.50884e-06	6.35919e-06	1	1	0
KCNJ3	3760	broad.mit.edu	37	2	155711395	155711395	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:155711395A>T	ENST00000295101.2	+	3	1553	c.1076A>T	c.(1075-1077)aAa>aTa	p.K359I	KCNJ3_ENST00000544049.1_3'UTR|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	359					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TACAGTGTGAAAGAGCAGGAG	0.413000													17	45					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582546	136582546	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr6:136582546C>A	ENST00000531224.1	-	12	2866	c.2614G>T	c.(2614-2616)Ggc>Tgc	p.G872C	BCLAF1_ENST00000527759.1_Missense_Mutation_p.G870C|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Missense_Mutation_p.G699C|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G821C|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G823C|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G821C|BCLAF1_ENST00000031135.9_Missense_Mutation_p.G90C	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	872					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CGCCCTCTGCCACGTTGAAAA	0.423000													21	127					3.5997e-14	5.47919e-14	1	1	0
ZNF622	90441	broad.mit.edu	37	5	16463792	16463792	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:16463792C>A	ENST00000308683.2	-	2	811	c.685G>T	c.(685-687)Gat>Tat	p.D229Y		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	229	Glu-rich.					cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TCCACCACATCGTCCATTGCT	0.443000													40	213					1.51926e-22	2.56188e-22	1	1	0
HEATR5A	25938	broad.mit.edu	37	14	31777181	31777181	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr14:31777181A>G	ENST00000543095.2	-	30	4920	c.4736T>C	c.(4735-4737)aTg>aCg	p.M1579T	HEATR5A_ENST00000389961.3_Missense_Mutation_p.M1573T|HEATR5A_ENST00000439727.1_Missense_Mutation_p.M1286T|HEATR5A_ENST00000439348.1_Missense_Mutation_p.M1573T	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1573							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TATGCTTTCCATGGTTGCATC	0.393000													4	6					0	0	1	0	0
PRAMEF16	654348	broad.mit.edu	37	1	13497721	13497721	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:13497721C>G	ENST00000376121.3	+	3	1048	c.1018C>G	c.(1018-1020)Ctt>Gtt	p.L340V		NM_001045480.1	NP_001038945.1	Q5VWM1	PRA16_HUMAN	PRAME family member 16	340												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTGAGCCCCTTGGAGCTCT	0.517000													29	62					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18846067	18846067	+	RNA	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr22:18846067C>A	ENST00000412938.1	+	0	3425																											CCCAGACATGCGGTAGATGCC	0.652000													4	62					0.000602214	0.00064738	1	1	0
LMLN	89782	broad.mit.edu	37	3	197751542	197751542	+	Silent	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:197751542C>T	ENST00000330198.4	+	14	1561	c.1539C>T	c.(1537-1539)aaC>aaT	p.N513N	LMLN_ENST00000420910.2_Silent_p.N550N|LMLN_ENST00000332636.5_Silent_p.N461N|LMLN_ENST00000482695.1_Silent_p.N498N	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	513					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTTTTAAGAACTATGGCGCTG	0.373000													7	13					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78401020	78401020	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:78401020C>A	ENST00000397909.2	+	8	1875	c.1702C>A	c.(1702-1704)Cct>Act	p.P568T	NAV3_ENST00000266692.7_Missense_Mutation_p.P568T|NAV3_ENST00000228327.6_Missense_Mutation_p.P568T|NAV3_ENST00000536525.2_Missense_Mutation_p.P568T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	568						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTTATCTAAGCCTATAACCAT	0.493000										HNSCC(70;0.22)			17	20					5.35267e-07	6.57613e-07	1	1	0
SLC2A2	6514	broad.mit.edu	37	3	170732306	170732306	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:170732306C>T	ENST00000314251.3	-	3	402	c.323G>A	c.(322-324)gGa>gAa	p.G108E	SLC2A2_ENST00000382808.4_Intron	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	108					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TGCAGTCATTCCACCAACTGC	0.448000													35	56					0	0	1	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48858616	48858616	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:48858616C>G	ENST00000376423.4	-	1	57	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E9Q|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E9Q|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.E9Q	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	9						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CGCTGAAACTCCTCCTCAGAC	0.657000													13	61					0	0	1	0	0
FNDC5	252995	broad.mit.edu	37	1	33333813	33333813	+	Silent	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:33333813C>T	ENST00000373471.3	-	3	453	c.162G>A	c.(160-162)gaG>gaA	p.E54E		NM_001171940.1|NM_153756.2	NP_001165411.1|NP_715637.1	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	113	Fibronectin type-III.					integral to membrane|peroxisomal membrane				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGGCCATCTTCTCAGCCTCAC	0.602000													49	118					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110782425	110782425	+	Silent	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:110782425A>T	ENST00000282356.4	+	6	899	c.501A>T	c.(499-501)ccA>ccT	p.P167P	CAMK4_ENST00000512453.1_Silent_p.P167P	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	167	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATCTCAAACCAGAGAATCTTC	0.368000													16	35					0	0	1	0	0
NPM1	4869	broad.mit.edu	37	5	170818327	170818327	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:170818327G>T	ENST00000296930.5	+	3	458	c.157G>T	c.(157-159)Gca>Tca	p.A53S	NPM1_ENST00000393820.2_Missense_Mutation_p.A53S|NPM1_ENST00000517671.1_Missense_Mutation_p.A53S|NPM1_ENST00000351986.6_Missense_Mutation_p.A53S	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	53	Necessary for interaction with APEX1.|Required for interaction with SENP3.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGGGCTGGTGCAAAGGATGA	0.403000			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""								29	38					6.00712e-18	9.47913e-18	1	1	0
CHST15	51363	broad.mit.edu	37	10	125798150	125798150	+	Silent	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:125798150G>T	ENST00000346248.5	-	5	1713	c.1071C>A	c.(1069-1071)gcC>gcA	p.A357A	CHST15_ENST00000421115.1_Silent_p.A357A|CHST15_ENST00000435907.1_Silent_p.A357A	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	357					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						AGAACGTCCAGGCATTATTAT	0.547000													10	29					2.80697e-09	3.68549e-09	1	1	0
MT-ND5	4540	broad.mit.edu	37	MT	13349	13349	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrM:13349T>C	ENST00000361567.2	+	1	1013	c.1013T>C	c.(1012-1014)aTa>aCa	p.I338T				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	338					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	CTTCAAAGCCATACTATTTAT	0.428000													6	43					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104176511	104176511	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr10:104176511C>A	ENST00000020673.5	-	2	811	c.285G>T	c.(283-285)ggG>ggT	p.G95G	PSD_ENST00000406432.1_Silent_p.G95G|PSD_ENST00000492902.2_5'UTR	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	95	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGCTCTGGGCCCCGGGTGGGG	0.657000													20	36					1.96895e-08	2.52731e-08	1	1	0
SLC46A3	283537	broad.mit.edu	37	13	29287666	29287666	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr13:29287666G>A	ENST00000266943.6	-	3	580	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C	SLC46A3_ENST00000380814.4_Missense_Mutation_p.R71C	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	71					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AGATTAAAACGTGACACTTTT	0.338000													4	29					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7721575	7721575	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr16:7721575C>A	ENST00000355637.4	+	10	1219	c.967C>A	c.(967-969)Cct>Act	p.P323T	RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000311745.5_Missense_Mutation_p.P323T|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000340209.4_Intron|RBFOX1_ENST00000436368.2_Missense_Mutation_p.P323T|RBFOX1_ENST00000547372.1_Intron	NM_145893.2	NP_665900.1	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	303					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GTATCAAGAGCCTGTGTATGG	0.358000													3	28					0.150653	0.151534	1	1	0
ANKIB1	54467	broad.mit.edu	37	7	92000845	92000845	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr7:92000845C>A	ENST00000265742.3	+	11	1917	c.1541C>A	c.(1540-1542)aCt>aAt	p.T514N		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	514							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGGTTATTAACTAACTCCAAG	0.398000													3	5					2.56e-06	3.05778e-06	1	1	0
THEG	51298	broad.mit.edu	37	19	375671	375671	+	Silent	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:375671A>T	ENST00000342640.4	-	1	342	c.300T>A	c.(298-300)ccT>ccA	p.P100P	THEG_ENST00000346878.2_Silent_p.P100P	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	100					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		ACCTGATTTCAGGAATGTCCT	0.662000													16	90					0	0	1	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50685429	50685429	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr3:50685429A>T	ENST00000446044.1	+	13	1697	c.1101A>T	c.(1099-1101)aaA>aaT	p.K367N	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.K367N	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	367					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		AGAGGAGAAAAAAGCAGGCAG	0.552000													6	23					0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16504811	16504811	+	Splice_Site	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:16504811G>A	ENST00000455140.2	-	18	1983	c.1915_splice	c.e18-1	p.G639_splice	EPS15L1_ENST00000535753.2_Splice_Site_p.G639_splice|EPS15L1_ENST00000248070.6_Splice_Site_p.G639_splice|EPS15L1_ENST00000594975.1_Splice_Site_p.G641_splice	NM_001258374.1	NP_001245303.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	639	15 X 3 AA repeats of D-P-F.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GGAACGGGTCGCCTGGTTGGA	0.547000													29	53					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178682641	178682641	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr2:178682641C>T	ENST00000286063.5	-	8	1905	c.1588G>A	c.(1588-1590)Gtg>Atg	p.V530M	PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Missense_Mutation_p.V172M|PDE11A_ENST00000409504.1_Missense_Mutation_p.V172M|PDE11A_ENST00000389683.3_Missense_Mutation_p.V86M|PDE11A_ENST00000358450.4_Missense_Mutation_p.V280M	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	530	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CTGTTTAACACTTGAGCCACT	0.378000									Primary Pigmented Nodular Adrenocortical Disease, Familial				5	23					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98220527	98220527	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr9:98220527T>C	ENST00000430669.2	-	18	3323	c.2738A>G	c.(2737-2739)aAc>aGc	p.N913S	PTCH1_ENST00000421141.1_Missense_Mutation_p.N828S|PTCH1_ENST00000437951.1_Missense_Mutation_p.N913S|PTCH1_ENST00000331920.6_Missense_Mutation_p.N979S|PTCH1_ENST00000429896.2_Missense_Mutation_p.N828S|PTCH1_ENST00000375274.2_Missense_Mutation_p.N978S|PTCH1_ENST00000418258.1_Missense_Mutation_p.N828S			Q13635	PTC1_HUMAN	patched 1	979					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.I963fs*2(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCGCAAGCCGTTGAGGTAGAA	0.562000													4	18					0	0	1	0	0
OR2T5	401993	broad.mit.edu	37	1	248651946	248651946	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:248651946G>T	ENST00000366473.2	+	1	62	c.57G>T	c.(55-57)atG>atT	p.M19I		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATCCTCATGGGACTCTTCA	0.483000													18	40					2.48779e-11	3.47887e-11	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			5	17					0.000602214	0.00064738	1	1	0
OR8U1	219417	broad.mit.edu	37	11	56143989	56143989	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:56143989T>A	ENST00000302270.1	+	1	890	c.890T>A	c.(889-891)gTg>gAg	p.V297E		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					AATAAGGAGGTGAAAGAAGCT	0.363000													21	62					0	0	1	0	0
SLC6A8	6535	broad.mit.edu	37	X	152954185	152954185	+	Silent	SNP	C	C	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:152954185C>G	ENST00000253122.5	+	1	632	c.156C>G	c.(154-156)cgC>cgG	p.R52R		NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	52					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TGCCGCCGCGCGAGACCTGGA	0.741000													4	11					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122561800	122561800	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:122561800C>A	ENST00000264357.5	+	12	2178	c.1886C>A	c.(1885-1887)tCc>tAc	p.S629Y	GRIA3_ENST00000371251.1_Missense_Mutation_p.S629Y|GRIA3_ENST00000542149.1_Missense_Mutation_p.S629Y|GRIA3_ENST00000371256.5_Missense_Mutation_p.S629Y	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	629					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AGATCACTCTCCGGGCGCATT	0.433000													25	63					1.61788e-16	2.50698e-16	1	1	0
SIGLEC12	89858	broad.mit.edu	37	19	52003556	52003556	+	Splice_Site	SNP	T	T	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:52003556T>A	ENST00000291707.3	-	2	483		c.e2-2		SIGLEC12_ENST00000598614.1_Silent_p.T24T	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)						cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCTGGGACGCTGTGGAGAAAC	0.602000													16	34					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228505241	228505241	+	Silent	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:228505241C>T	ENST00000570156.2	+	63	16583	c.16509C>T	c.(16507-16509)ccC>ccT	p.P5503P	OBSCN_ENST00000366709.4_Silent_p.P1665P|OBSCN_ENST00000366707.4_Silent_p.P2180P|OBSCN_ENST00000422127.1_Silent_p.P4546P|OBSCN_ENST00000284548.11_Silent_p.P4546P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4546					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			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)				GGGCAGCTCCCATGAGTGATG	0.662000													12	25					0	0	1	0	0
HNRNPR	10236	broad.mit.edu	37	1	23660011	23660011	+	Splice_Site	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:23660011C>A	ENST00000478691.1	-	4	466	c.195_splice	c.e4+1	p.E65_splice	HNRNPR_ENST00000374612.1_Splice_Site_p.E166_splice|HNRNPR_ENST00000374616.3_Splice_Site_p.E166_splice|HNRNPR_ENST00000606561.1_Intron|HNRNPR_ENST00000302271.6_Splice_Site_p.E166_splice|HNRNPR_ENST00000427764.2_Intron|HNRNPR_ENST00000426846.2_Splice_Site_p.E65_splice	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	166	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GAACACTTACCTCCGTTCCAA	0.448000													8	27					2.74318e-10	3.80506e-10	1	1	0
ZC3H7B	23264	broad.mit.edu	37	22	41734353	41734353	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr22:41734353G>C	ENST00000352645.4	+	8	876	c.619G>C	c.(619-621)Gaa>Caa	p.E207Q	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.E207Q	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	207					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGATGACATCGAAACAGGTAA	0.607000													4	10					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060180	9060180	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:9060180G>T	ENST00000397910.4	-	3	27469	c.27266C>A	c.(27265-27267)aCa>aAa	p.T9089K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9091	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCCCTTGATGTAGCCCCAGG	0.478000													10	58					6.40141e-05	7.1035e-05	1	1	0
HOOK3	84376	broad.mit.edu	37	8	42863022	42863022	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr8:42863022A>G	ENST00000307602.4	+	18	1888	c.1688A>G	c.(1687-1689)cAg>cGg	p.Q563R	HOOK3_ENST00000524839.1_3'UTR	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	563	Required for association with Golgi.|Required for interaction with MSR1.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AATGAACTACAGAAGAAGAGA	0.373000			T	RET	papillary thyroid								16	41					0	0	1	0	0
LGI4	163175	broad.mit.edu	37	19	35624632	35624632	+	Missense_Mutation	SNP	G	G	T	rs148508572	byFrequency	TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:35624632G>T	ENST00000392225.3	-	3	798	c.279C>A	c.(277-279)gaC>gaA	p.D93E	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000591633.1_Missense_Mutation_p.D93E|LGI4_ENST00000310123.3_Missense_Mutation_p.D93E			Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	93						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CAAATGCATCGTCCTCAATCA	0.567000													3	22					0.150653	0.151534	1	1	0
RBMXL1	494115	broad.mit.edu	37	1	89448581	89448581	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:89448581T>C	ENST00000399794.2	-	3	1644	c.929A>G	c.(928-930)tAt>tGt	p.Y310C	RBMXL1_ENST00000321792.5_Missense_Mutation_p.Y310C|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	310	Ser-rich.						nucleotide binding|RNA binding										ATAATCATCATAGCGACTGCT	0.488000													42	112					0	0	1	0	0
DHDH	27294	broad.mit.edu	37	19	49438276	49438276	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:49438276G>T	ENST00000221403.2	+	2	150	c.110G>T	c.(109-111)cGc>cTc	p.R37L	DHDH_ENST00000523250.1_Missense_Mutation_p.R37L|DHDH_ENST00000522614.1_Missense_Mutation_p.R37L	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	37					carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GTGGCGGCCCGCGATCTGAGC	0.632000													3	3					0.00024832	0.000272045	1	1	0
TBX15	6913	broad.mit.edu	37	1	119427455	119427455	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:119427455C>A	ENST00000369429.3	-	8	1718	c.1709G>T	c.(1708-1710)aGc>aTc	p.S570I	TBX15_ENST00000207157.3_Missense_Mutation_p.S464I			Q96SF7	TBX15_HUMAN	T-box 15	570						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGGTGAAGGGCTAATCATGTG	0.542000													19	39					2.35188e-11	3.31577e-11	1	1	0
BGN	633	broad.mit.edu	37	X	152773722	152773722	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:152773722C>A	ENST00000331595.4	+	8	1112	c.926C>A	c.(925-927)tCc>tAc	p.S309Y	BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_Missense_Mutation_p.S248Y	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	309						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TATCTGCACTCCAACAACATC	0.607000													48	151					1.64573e-32	2.88843e-32	1	1	0
FUNDC2	65991	broad.mit.edu	37	X	154274857	154274857	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:154274857C>T	ENST00000369498.3	+	3	612	c.358C>T	c.(358-360)Cag>Tag	p.Q120*	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	120						mitochondrion				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTTTCTCCTTCAGGTCTGTAT	0.438000													13	90					0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133078832	133078832	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr6:133078832G>T	ENST00000326499.6	-	1	315	c.191C>A	c.(190-192)gCg>gAg	p.A64E	VNN2_ENST00000525270.1_Missense_Mutation_p.A11E|VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525289.1_Missense_Mutation_p.A64E	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	64	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CTGCTTGATCGCTGTCTCCAG	0.433000													13	24					0.000308642	0.00033599	1	1	0
MYH1	4619	broad.mit.edu	37	17	10415801	10415801	+	Silent	SNP	C	C	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr17:10415801C>A	ENST00000226207.5	-	12	1165	c.1071G>T	c.(1069-1071)ggG>ggT	p.G357G	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	357	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCATCACAGCCCCTGTGAGCT	0.453000													13	36					0.000151284	0.000166801	1	1	0
KLK8	11202	broad.mit.edu	37	19	51503928	51503928	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr19:51503928C>G	ENST00000391806.2	-	3	197	c.117G>C	c.(115-117)ttG>ttC	p.L39F	KLK8_ENST00000320838.5_Intron|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000291726.7_Intron|KLK8_ENST00000600767.1_Intron|KLK8_ENST00000593490.1_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000376832.4_Intron|KLK9_ENST00000250366.6_Intron			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	23	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GGACACACGGCAAGTTCTCCG	0.582000													17	31					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82816757	82816757	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:82816757A>G	ENST00000265077.3	+	7	3197	c.2632A>G	c.(2632-2634)Aaa>Gaa	p.K878E	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.K830E|VCAN_ENST00000342785.4_Missense_Mutation_p.K878E|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	878	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)		AGCCCATGGAAAATTCACAAT	0.373000													19	63					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309230	248309230	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:248309230C>T	ENST00000366476.1	+	1	781	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R261R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CATGTACATACGGCCCACATC	0.517000													28	156					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920664	4920664	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:4920664C>T	ENST00000433855.1	+	1	2323	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V	KCNA6_ENST00000280684.3_Missense_Mutation_p.A486V	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	486						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GGGCAGCCTGCGCCGGACCTG	0.612000										HNSCC(72;0.22)			15	47					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451547	138451547	+	Missense_Mutation	SNP	T	T	C	rs149770317		TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr4:138451547T>C	ENST00000344876.4	-	1	2082	c.1696A>G	c.(1696-1698)Atc>Gtc	p.I566V	PCDH18_ENST00000412923.2_Missense_Mutation_p.I566V|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.I346V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	566	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCGTCAATGATGGTGAGCACA	0.453000													33	81					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184568	130184568	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:130184568G>C	ENST00000422113.2	-	2	1081	c.755C>G	c.(754-756)aCa>aGa	p.T252R		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	252						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACTGTGGCCTGTCCGGATCCC	0.617000													18	48					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215821947	215821947	+	Silent	SNP	T	T	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr1:215821947T>C	ENST00000366943.2	-	66	14891	c.14505A>G	c.(14503-14505)ccA>ccG	p.P4835P	USH2A_ENST00000307340.3_Silent_p.P4835P			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4835	Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCCGATTTGTGGAGAGGACA	0.577000										HNSCC(13;0.011)			15	42					0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22129677	22129677	+	Splice_Site	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:22129677G>A	ENST00000379374.4	+	10	1737	c.1173_splice	c.e10+1	p.R391_splice	PHEX_ENST00000418858.3_Splice_Site_p.R94_splice|PHEX_ENST00000537599.1_Splice_Site_p.R391_splice|PHEX_ENST00000535894.1_Splice_Site_p.R294_splice	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	391					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GAATTCTCAAGGGTAAGTTTA	0.383000													19	40					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275061	114275061	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr4:114275061A>T	ENST00000357077.4	+	38	5340	c.5287A>T	c.(5287-5289)Att>Ttt	p.I1763F	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.I1730F|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1730					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGAAACTCCCATTGGTTCCAT	0.473000													55	121					0	0	1	0	0
FAM134B	54463	broad.mit.edu	37	5	16616835	16616835	+	Silent	SNP	G	G	C			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr5:16616835G>C	ENST00000306320.9	-	1	332	c.246C>G	c.(244-246)cgC>cgG	p.R82R	FAM134B_ENST00000509048.1_5'UTR|RP11-260E18.1_ENST00000499131.1_RNA	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	82					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						GCTCGTCGGCGCGGCAGCCCA	0.746000													3	1					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993298	140993298	+	Silent	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:140993298G>A	ENST00000285879.4	+	4	394	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	36							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCTCCAGATTCCCCAGA	0.572000										HNSCC(15;0.026)			20	69					0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123483506	123483506	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:123483506G>A	ENST00000529750.1	+	14	1855	c.1528G>A	c.(1528-1530)Ggg>Agg	p.G510R	GRAMD1B_ENST00000450171.2_Missense_Mutation_p.G201R|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.G510R|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.G517R	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	510						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		ACAGCCCTGGGGGTTAGTGAA	0.547000													4	13					0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25043939	25043939	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr14:25043939G>A	ENST00000216336.2	-	3	317	c.281C>T	c.(280-282)gCc>gTc	p.A94V		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	94	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GTGGCGGATGGCTCTGCGCGC	0.527000													16	42					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159568146	159568146	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr4:159568146delC	ENST00000307765.5	+	16	1800	c.1549delC	c.(1549-1551)ctfs	p.P517fs	RXFP1_ENST00000448688.2_Frame_Shift_Del_p.P412fs|RXFP1_ENST00000470033.1_Frame_Shift_Del_p.P484fs|RXFP1_ENST00000460056.2_Frame_Shift_Del_p.P436fs|RXFP1_ENST00000343542.5_Frame_Shift_Del_p.P469fs	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	517						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CATTGTCTATCCTTTTAGATG	0.358													15	32	---	---	---	---					
DCBLD1	285761	broad.mit.edu	37	6	117866753	117866754	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr6:117866753_117866754insA	ENST00000338728.5	+	14	1728_1729	c.1608_1609insA	c.(1606-1611)gatggcfs	p.DG536fs	GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000368503.4_Frame_Shift_Ins_p.DG337fs|DCBLD1_ENST00000296955.8_Frame_Shift_Ins_p.DG536fs|DCBLD1_ENST00000534777.1_3'UTR			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	536					cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TCACAAGTGATATGGCAGGTAA	0.411													7	70	---	---	---	---					
ARID1B	57492	broad.mit.edu	37	6	157469810	157469811	+	Frame_Shift_Ins	INS	-	-	G	rs145635490	byFrequency	TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr6:157469810_157469811insG	ENST00000346085.5	+	9	2605_2606	c.2604_2605insG	c.(2602-2607)aggcccfs	p.P869fs	ARID1B_ENST00000367148.1_Frame_Shift_Ins_p.P856fs|ARID1B_ENST00000350026.5_Frame_Shift_Ins_p.P856fs|ARID1B_ENST00000275248.4_Frame_Shift_Ins_p.P798fs	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	856					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAAGCTACAGCGGCCCAGGGCC	0.530													21	44	---	---	---	---					
SSMEM1	136263	broad.mit.edu	37	7	129856175	129856176	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr7:129856175_129856176insT	ENST00000297819.3	+	3	651_652	c.600_601insT	c.(598-603)cagcaafs	p.QQ200fs		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1																		ACTGCCTCCACTGCAAAGCCTT	0.485													23	78	---	---	---	---					
LINC01410	103352539	broad.mit.edu	37	9	66460933	66460933	+	RNA	DEL	T	T	-			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr9:66460933delT	ENST00000424345.1	+	0	224																											atagggaatcttttccccatt	0.378													2	4	---	---	---	---					
INSC	387755	broad.mit.edu	37	11	15134077	15134077	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr11:15134077delG	ENST00000379554.3	+	1	108	c.62delG	c.(61-63)tgfs	p.W21fs		NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	21					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TGGGGTCTATGGGGAGTCCAG	0.597													13	43	---	---	---	---					
KCNA1	3736	broad.mit.edu	37	12	5021881	5021881	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:5021881delC	ENST00000382545.3	+	2	2444	c.1337delC	c.(1336-1338)tcfs	p.S447fs	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	447					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGCCGCAGTTCCTCTACTATG	0.478													53	135	---	---	---	---					
RP11-551L14.4	0	broad.mit.edu	37	12	31158686	31158686	+	RNA	DEL	T	T	-			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:31158686delT	ENST00000222396.5	-	0	207																											GGGGAGGGGCTTGTGGGGACA	0.587													2	4	---	---	---	---					
ANKS1B	56899	broad.mit.edu	37	12	99446957	99446958	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr12:99446957_99446958insT	ENST00000547776.2	-	17	2754_2755	c.2755_2756insA	c.(2755-2757)ctgfs	p.L919fs	ANKS1B_ENST00000549493.2_Frame_Shift_Ins_p.L145fs|ANKS1B_ENST00000547446.1_Frame_Shift_Ins_p.L114fs|ANKS1B_ENST00000549025.2_Frame_Shift_Ins_p.L88fs|ANKS1B_ENST00000546568.1_Frame_Shift_Ins_p.L145fs|ANKS1B_ENST00000550693.2_Frame_Shift_Ins_p.L145fs|ANKS1B_ENST00000546960.1_Frame_Shift_Ins_p.L145fs|ANKS1B_ENST00000547010.1_Frame_Shift_Ins_p.L495fs|ANKS1B_ENST00000329257.7_Frame_Shift_Ins_p.L919fs|ANKS1B_ENST00000549558.2_Frame_Shift_Ins_p.L145fs|ANKS1B_ENST00000332712.7_Frame_Shift_Ins_p.L145fs	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	919	SAM 2.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AACCTCCCAGATTTTTTTCAAC	0.371													9	8	---	---	---	---					
ARHGAP5	394	broad.mit.edu	37	14	32561858	32561858	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr14:32561858delA	ENST00000345122.3	+	2	2298	c.1983delA	c.(1981-1983)gtfs	p.V661fs	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.V661fs|ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.V661fs|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.V661fs	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	661					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GCTTCTGTGTATTTAATTCCA	0.373													19	51	---	---	---	---					
CRK	1398	broad.mit.edu	37	17	1326904	1326904	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chr17:1326904delC	ENST00000300574.2	-	3	958	c.818delG	c.(817-819)gtfs	p.G273fs	CRK_ENST00000398970.5_3'UTR|CRK_ENST00000574295.1_Intron|CRK_ENST00000572145.1_5'UTR	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	273	SH3 2.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		TTCCCACTGACCACTCACATT	0.483													31	69	---	---	---	---					
FAM47B	170062	broad.mit.edu	37	X	34962676	34962676	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:34962676delG	ENST00000329357.5	+	1	1764	c.1728delG	c.(1726-1728)aafs	p.K576fs		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	576										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TACTTGAAAAGCCTGATGAAC	0.458													31	92	---	---	---	---					
OGT	8473	broad.mit.edu	37	X	70779527	70779527	+	Splice_Site	DEL	G	G	-			TCGA-55-7725-01A-11D-2167-08	TCGA-55-7725-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9	6c41dcba-66c0-474f-91f8-2e148efd6c18	g.chrX:70779527delG	ENST00000373719.3	+	14	2068	c.1851_splice	c.e14+1	p.Q617_splice	OGT_ENST00000373701.3_Splice_Site_p.Q607_splice	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	617					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ATCTTTCTCAGGTAGATGAAA	0.358													8	23	---	---	---	---