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
ALAS1	211	broad.mit.edu	37	3	52246323	52246323	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:52246323G>A	ENST00000394965.2	+	11	2009	c.1649G>A	c.(1648-1650)aGa>aAa	p.R550K	ALAS1_ENST00000469224.1_Missense_Mutation_p.R550K|ALAS1_ENST00000484952.1_Missense_Mutation_p.R550K|ALAS1_ENST00000310271.2_Missense_Mutation_p.R550K	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	550					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTAATGAGCAGACATAACATC	0.498000													197	72					0	0	1	0	0
PCIF1	63935	broad.mit.edu	37	20	44573628	44573628	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:44573628G>A	ENST00000372409.3	+	11	1491	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	376						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						AAACGGATCCGAGAGAAGCAC	0.562000													13	4					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60591527	60591527	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:60591527C>G	ENST00000406854.1	+	9	3192	c.2638C>G	c.(2638-2640)Cta>Gta	p.L880V	PCNXL4_ENST00000404681.2_Missense_Mutation_p.L880V|PCNXL4_ENST00000317623.4_Missense_Mutation_p.L646V|PCNXL4_ENST00000406949.1_Missense_Mutation_p.L646V|PCNXL4_ENST00000535349.1_Missense_Mutation_p.L87V					pecanex-like 4 (Drosophila)																		CAAAGCAGTTCTATTAGGATA	0.408000													67	52					0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31842778	31842778	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:31842778G>A	ENST00000544672.1	-	5	338	c.42C>T	c.(40-42)aaC>aaT	p.N14N	SLC44A4_ENST00000375562.4_Silent_p.N90N|SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000229729.6_Silent_p.N90N	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	90						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AGCTGAAGATGTTGAAGTACA	0.597000													44	27					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42839208	42839208	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:42839208G>A	ENST00000334370.4	+	4	1215	c.580G>A	c.(580-582)Gag>Aag	p.E194K	MEGF8_ENST00000251268.6_Missense_Mutation_p.E194K	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	194	EGF-like 2.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ATGCCGCTGTGAGCCTGGCTT	0.597000													9	16					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47821561	47821561	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr21:47821561T>G	ENST00000359568.5	+	26	4995	c.4888T>G	c.(4888-4890)Tcg>Gcg	p.S1630A	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1630					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CGAGCCTCCTTCGGGCAGCCC	0.557000													55	50					0	0	1	0	0
ZNF714	148206	broad.mit.edu	37	19	21300833	21300833	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:21300833G>A	ENST00000596143.1	+	5	1688	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						CTACAAATGTGAAGAATGTGG	0.368000													21	43					0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54374161	54374161	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:54374161C>T	ENST00000306888.2	-	2	577	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	LNX1-AS1_ENST00000510785.1_RNA|FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Missense_Mutation_p.R205Q|LNX1-AS1_ENST00000511989.1_RNA|LNX1-AS1_ENST00000514364.1_RNA	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	205						cytoplasm	zinc ion binding	p.R109Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACCCCTAGTTCGGTTGCTCCG	0.552000													6	21					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73553278	73553278	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:73553278C>A	ENST00000224721.6	+	47	6613	c.6608C>A	c.(6607-6609)gCc>gAc	p.A2203D		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2198	Cadherin 21.			EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 6; BAB61902).	calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AATATCACGGCCATTGACCAC	0.572000													23	23					2.89027e-11	2.99062e-11	1	1	0
KRIT1	889	broad.mit.edu	37	7	91863905	91863905	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:91863905C>T	ENST00000394507.1	-	11	1630	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	KRIT1_ENST00000394503.2_Intron|KRIT1_ENST00000412043.2_Splice_Site_p.E283K|KRIT1_ENST00000394505.2_Splice_Site_p.E283K|KRIT1_ENST00000340022.2_Splice_Site_p.E283K	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	283					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CACTGTCGTTCCCTAATCATT	0.368000													26	43					0	0	1	0	0
C2orf48	348738	broad.mit.edu	37	2	10350668	10350668	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:10350668C>T	ENST00000381786.3	+	4	714	c.425C>T	c.(424-426)aCa>aTa	p.T142I		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	142										endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		CTGGACTCCACACAGGCCTGC	0.567000													31	61					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386419	56386419	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:56386419C>T	ENST00000355701.3	-	22	5084	c.4214G>A	c.(4213-4215)cGg>cAg	p.R1405Q	BZRAP1_ENST00000343736.4_Missense_Mutation_p.R1405Q|BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1345Q	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1405						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCTCTCCTCCGGCTGCTTCC	0.642000													47	58					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79025761	79025761	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:79025761G>A	ENST00000446378.2	+	2	1204	c.1173G>A	c.(1171-1173)ctG>ctA	p.L391L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	391						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTATGTTCCTGAGAACAACAA	0.468000													16	9					0	0	1	0	0
ECHDC2	55268	broad.mit.edu	37	1	53387303	53387303	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:53387303G>A	ENST00000371522.4	-	1	136	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	ECHDC2_ENST00000536120.1_5'UTR|ECHDC2_ENST00000358358.5_Missense_Mutation_p.R15W|ECHDC2_ENST00000541281.1_5'UTR	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	15					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CCGCGGGCCCGAAGGGGCCTC	0.731000													5	6					0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165532806	165532806	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:165532806G>A	ENST00000294818.1	+	2	977	c.687G>A	c.(685-687)ggG>ggA	p.G229G	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	229	LRRCT.					integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CCCGGGTGGGGAACCCACTCC	0.557000													13	26					0	0	1	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36322537	36322537	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:36322537G>A	ENST00000361383.6	+	1	130	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	CTNNBL1_ENST00000405275.2_5'UTR	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	5					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GGACGTGGGCGAACTTCTGAG	0.662000													3	6					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88890382	88890382	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:88890382A>G	ENST00000303236.3	-	5	1257	c.956T>C	c.(955-957)gTt>gCt	p.V319A	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.V168A	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	319					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GAATGCCATAACTTTCCAGTC	0.428000													33	67					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100092767	100092767	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:100092767C>G	ENST00000375202.2	+	32	3476	c.2124C>G	c.(2122-2124)ttC>ttG	p.F708L	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Missense_Mutation_p.F705L|CCDC180_ENST00000357054.1_Missense_Mutation_p.F847L|CCDC180_ENST00000529487.1_Missense_Mutation_p.F708L					coiled-coil domain containing 180																		TGGAGTCCTTCATAACTGAAG	0.463000													16	36					0	0	1	0	0
MFSD1	64747	broad.mit.edu	37	3	158519924	158519924	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:158519924C>T	ENST00000415822.2	+	1	271	c.130C>T	c.(130-132)Ccg>Tcg	p.P44S	MFSD1_ENST00000392813.4_Missense_Mutation_p.P44S|MFSD1_ENST00000264266.8_5'UTR	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	0					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTCCCCTCTCCGTCTCCTGC	0.682000													5	7					0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74041408	74041408	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:74041408C>T	ENST00000307877.2	-	12	1520	c.1359G>A	c.(1357-1359)gaG>gaA	p.E453E	SRP68_ENST00000539137.1_Silent_p.E415E|SRP68_ENST00000602720.1_Silent_p.E114E|SRP68_ENST00000355113.5_Silent_p.E352E|SRP68_ENST00000542536.2_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	453					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TGAGGCCTATCTCTTTCTGGA	0.463000													30	46					0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25312422	25312422	+	Silent	SNP	C	C	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:25312422C>A	ENST00000524413.1	+	3	617	c.270C>A	c.(268-270)atC>atA	p.I90I	THNSL1_ENST00000376356.4_Silent_p.I90I			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	90					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	ATGATGATATCCTTGAAAAAA	0.383000													38	73					1.06647e-15	1.11512e-15	1	1	0
BPTF	2186	broad.mit.edu	37	17	65908474	65908474	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:65908474G>A	ENST00000321892.4	+	13	4913	c.4852G>A	c.(4852-4854)Gat>Aat	p.D1618N	BPTF_ENST00000424123.3_Missense_Mutation_p.D1479N|BPTF_ENST00000306378.6_Missense_Mutation_p.D1492N|BPTF_ENST00000335221.5_Missense_Mutation_p.D1618N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1618					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAGTTCTTCAGATGCTGAAGG	0.433000													33	61					0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46914757	46914757	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:46914757C>T	ENST00000307522.3	-	1	2084	c.1311G>A	c.(1309-1311)agG>agA	p.R437R		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	437						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CAGCCTCTGCCCTCTGGCCAG	0.612000													31	53					0	0	1	0	0
SPAG4	6676	broad.mit.edu	37	20	34204137	34204137	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:34204137C>T	ENST00000374273.3	+	1	324	c.212C>T	c.(211-213)aCa>aTa	p.T71I		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	71					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GGAGGAACCACATGGGCAGGA	0.741000													7	10					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12860053	12860053	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:12860053C>T	ENST00000379672.5	+	15	1632	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	ARHGAP44_ENST00000262444.9_Silent_p.F444F|ARHGAP44_ENST00000340825.3_Silent_p.F444F	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	444	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CAGACTGGTTCTTCCCTGGGG	0.522000													8	12					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179398127	179398127	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:179398127G>A	ENST00000589042.1	-	358	103439	c.103215C>T	c.(103213-103215)ctC>ctT	p.L34405L	TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.L31837L|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000591111.1_Silent_p.L32764L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Silent_p.L25465L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Silent_p.L25340L|TTN_ENST00000342175.6_Silent_p.L25532L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32764							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTAGGCCCGAGGGACAGTG	0.473000													27	51					0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52952424	52952424	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr13:52952424C>G	ENST00000349258.4	-	4	2066	c.1522G>C	c.(1522-1524)Gac>Cac	p.D508H	THSD1_ENST00000258613.4_Missense_Mutation_p.D561H|THSD1_ENST00000544466.1_Missense_Mutation_p.D182H	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	561						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ATGGCAGTGTCTGTCAGGGGA	0.522000													72	30					0	0	1	0	0
DUSP4	1846	broad.mit.edu	37	8	29197718	29197718	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:29197718G>C	ENST00000240100.2	-	2	865	c.476C>G	c.(475-477)tCt>tGt	p.S159C	DUSP4_ENST00000240101.2_Missense_Mutation_p.S68C	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	159	Rhodanese.				endoderm formation|inactivation 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|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	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		CTTGGTTTTAGAACAGAATTC	0.572000											OREG0018686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	5					0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48374720	48374720	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:48374720A>G	ENST00000222002.3	-	6	989	c.850T>C	c.(850-852)Tgg>Cgg	p.W284R		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	284					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		CGTTATTCCCATGGGAACAGC	0.433000													15	34					0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21721355	21721355	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:21721355C>T	ENST00000388958.3	+	12	1252	c.1251C>T	c.(1249-1251)ctC>ctT	p.L417L	OTOA_ENST00000286149.4_Silent_p.L431L|OTOA_ENST00000388956.4_Silent_p.L338L|OTOA_ENST00000388957.3_Silent_p.L93L	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	431					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TCTCCACCCTCAACCAGGTCT	0.517000													13	23					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109507866	109507866	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr13:109507866G>A	ENST00000356711.2	+	11	1384	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	MYO16_ENST00000357550.2_Missense_Mutation_p.E420K|MYO16_ENST00000251041.5_Missense_Mutation_p.E420K	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	420	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCTGCTCTATGAGATTCAGAA	0.478000													14	13					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33589339	33589339	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:33589339G>A	ENST00000404816.2	+	30	4809	c.4456G>A	c.(4456-4458)Gag>Aag	p.E1486K	LTBP1_ENST00000407925.1_Missense_Mutation_p.E1160K|LTBP1_ENST00000402934.1_Missense_Mutation_p.E1105K|LTBP1_ENST00000404525.1_Missense_Mutation_p.E1107K|LTBP1_ENST00000390003.4_Missense_Mutation_p.E1161K|LTBP1_ENST00000354476.3_Missense_Mutation_p.E1487K|LTBP1_ENST00000272273.5_Missense_Mutation_p.E384K|LTBP1_ENST00000418533.2_Missense_Mutation_p.E1118K			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1486	EGF-like 16; 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)				TGTTAATACAGAGGGCTCTTA	0.423000													24	37					0	0	1	0	0
LCN2	3934	broad.mit.edu	37	9	130911943	130911943	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:130911943G>A	ENST00000540948.1	+	1	211		c.e1+1		LCN2_ENST00000372998.1_Splice_Site|LCN2_ENST00000277480.2_Splice_Site|LCN2_ENST00000373017.1_Splice_Site|LCN2_ENST00000470902.1_Splice_Site|LCN2_ENST00000373013.2_Splice_Site			P80188	NGAL_HUMAN	lipocalin 2						apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						GGACAACCAAGTAAGGGGCCA	0.637000													18	33					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56490853	56490853	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:56490853G>A	ENST00000267101.3	+	20	2739	c.2299G>A	c.(2299-2301)Gac>Aac	p.D767N	ERBB3_ENST00000450146.2_Missense_Mutation_p.D124N|ERBB3_ENST00000415288.2_Missense_Mutation_p.D708N|ERBB3_ENST00000553131.1_Missense_Mutation_p.D8N	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	767	Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGGCAGCCTGGACCATGCCCA	0.512000													29	35					0	0	1	0	0
LMNB1	4001	broad.mit.edu	37	5	126113516	126113516	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:126113516G>A	ENST00000261366.5	+	1	677	c.316G>A	c.(316-318)Gag>Aag	p.E106K	LMNB1_ENST00000395354.1_Missense_Mutation_p.E106K|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	106	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		GCTGCAGATCGAGCTGGGCAA	0.711000													2	0					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328436	88328436	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr13:88328436G>A	ENST00000325089.6	+	2	1012	c.793G>A	c.(793-795)Gag>Aag	p.E265K	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	265	LRRCT 1.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGTAGTTTGTGAGACCCCCTT	0.512000													38	61					0	0	1	0	0
IGHV3-11	28450	broad.mit.edu	37	14	106573262	106573262	+	RNA	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:106573262C>T	ENST00000390601.2	-	0	441																											GCCGTGTCCTCGGCTCTCAGG	0.552000													100	76					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130839176	130839176	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:130839176C>G	ENST00000245255.3	+	10	1411	c.1139C>G	c.(1138-1140)gCc>gGc	p.A380G		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	380	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CCAGGGCCTGCCATGCTCATT	0.537000													36	79					0	0	1	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111912967	111912967	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:111912967G>A	ENST00000368761.5	-	2	801	c.323C>T	c.(322-324)tCt>tTt	p.S108F	TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.S108F|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.S117F	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	117					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		AGAGCACCCAGAAGGGAAAGC	0.552000													20	17					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47344505	47344505	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:47344505G>A	ENST00000398879.1	-	21	3113	c.2747C>T	c.(2746-2748)tCg>tTg	p.S916L	TNS3_ENST00000355730.3_Missense_Mutation_p.S676L|TNS3_ENST00000311160.9_Missense_Mutation_p.S916L			Q68CZ2	TENS3_HUMAN	tensin 3	916						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGAGGGCGTCGAGGACGCATC	0.567000													10	13					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88974366	88974366	+	Splice_Site	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:88974366T>C	ENST00000556564.1	-	4	635		c.e4-2		PTPN21_ENST00000328736.3_Splice_Site|RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000554628.1_Splice_Site	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21							cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TACTGATACCTATAAAAAATG	0.338000													10	6					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107474514	107474514	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:107474514C>T	ENST00000415149.2	+	10	1222	c.895C>T	c.(895-897)Caa>Taa	p.Q299*	BBX_ENST00000402543.1_Nonsense_Mutation_p.Q299*|BBX_ENST00000416476.2_Nonsense_Mutation_p.Q299*|BBX_ENST00000406780.1_Nonsense_Mutation_p.Q299*|BBX_ENST00000325805.8_Nonsense_Mutation_p.Q299*	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TGCACTCTTTCAACTGGCAGA	0.388000													25	59					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193195	28193195	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr22:28193195A>C	ENST00000302326.4	-	1	4291	c.3337T>G	c.(3337-3339)Tcg>Gcg	p.S1113A		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1113							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TCAGGGGTCGAGGTAGAGTTA	0.756000			T	ETV6	"""AML, meningioma"""								6	16					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37619354	37619354	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:37619354C>T	ENST00000447079.4	+	1	1063	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	CDK12_ENST00000430627.2_Missense_Mutation_p.R344W	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	344					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GTCTCTGAGTCGGAGTCCACT	0.552000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			18	15					0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125848278	125848278	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:125848278C>T	ENST00000392693.3	-	18	3404	c.3277G>A	c.(3277-3279)Ggt>Agt	p.G1093S	CDON_ENST00000263577.7_Splice_Site_p.G1093S|CDON_ENST00000531738.1_Splice_Site_p.G470S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1093					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ATTCCACCACCCTGGACAGGA	0.443000													4	10					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64168093	64168093	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:64168093G>C	ENST00000395391.1	+	4	2786	c.1411G>C	c.(1411-1413)Gag>Cag	p.E471Q	ZNF107_ENST00000423627.1_Missense_Mutation_p.E471Q|ZNF107_ENST00000344930.3_Missense_Mutation_p.E471Q			Q9UII5	ZN107_HUMAN	zinc finger protein 107	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CTATAAATGTGAGGAATGTGG	0.363000													19	35					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33605015	33605015	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:33605015G>C	ENST00000321505.4	+	10	3823	c.3643G>C	c.(3643-3645)Gac>Cac	p.D1215H	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.D1221H|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.D1221H					KIAA1549-like																		CTTCAAGCCTGACACCATGAT	0.567000													2	0					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70944596	70944596	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:70944596C>T	ENST00000357250.6	-	34	2318	c.2160G>A	c.(2158-2160)cgG>cgA	p.R720R	COL9A1_ENST00000320755.7_Silent_p.R477R|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Silent_p.R477R	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	720	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CAGGAAGCCCCCGACTTCCCT	0.612000													13	11					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32157645	32157645	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:32157645G>T	ENST00000373672.3	-	17	1734	c.1218C>A	c.(1216-1218)gaC>gaA	p.D406E	COL16A1_ENST00000373668.3_Missense_Mutation_p.D406E|COL16A1_ENST00000271069.6_Missense_Mutation_p.D406E	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	406	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGATGCCTCCGTCGCCCTTCT	0.647000													21	49					2.39187e-15	2.4966e-15	1	1	0
MRPS22	56945	broad.mit.edu	37	3	139071544	139071544	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:139071544G>A	ENST00000495075.1	+	8	1220	c.788G>A	c.(787-789)cGt>cAt	p.R263H	MRPS22_ENST00000310776.4_Missense_Mutation_p.R263H|MRPS22_ENST00000465056.1_Missense_Mutation_p.R262H|MRPS22_ENST00000478464.1_Missense_Mutation_p.R222H			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	263						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						GACCTTTTACGTTCAACAAGA	0.323000													21	41					0	0	1	0	0
APMAP	57136	broad.mit.edu	37	20	24973288	24973288	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:24973288G>C	ENST00000217456.2	-	1	327	c.37C>G	c.(37-39)Ctg>Gtg	p.L13V	APMAP_ENST00000447138.1_Missense_Mutation_p.L13V	NM_020531.2	NP_065392.1			adipocyte plasma membrane associated protein																		TGCGGCCGCAGGGGCCGGCGC	0.716000													4	1					0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59720693	59720693	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:59720693C>T	ENST00000361421.1	-	8	1748	c.1528G>A	c.(1528-1530)Gac>Aac	p.D510N		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	510						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CTGCAGTAGTCGTTATTCCAG	0.537000											OREG0018787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	43					0	0	1	0	0
EBAG9	9166	broad.mit.edu	37	8	110575725	110575725	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:110575725G>A	ENST00000531677.1	+	6	621	c.621G>A	c.(619-621)gtG>gtA	p.V207V	EBAG9_ENST00000337573.5_Intron|EBAG9_ENST00000395785.2_Intron			O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	174					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			TAGAGAGAGTGAGTCTGGGTC	0.383000													64	90					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35492234	35492234	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:35492234G>A	ENST00000378880.2	-	5	1072	c.627C>T	c.(625-627)agC>agT	p.S209S	PAMR1_ENST00000278360.3_Silent_p.S209S|PAMR1_ENST00000378878.3_Intron|PAMR1_ENST00000532848.1_Silent_p.S169S|PAMR1_ENST00000534803.1_5'UTR	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	209	CUB.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AGGATCCTATGCTCTGGATAG	0.522000													15	14					0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	876999	876999	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:876999G>T	ENST00000312090.6	-	9	1685	c.1535C>A	c.(1534-1536)aCg>aAg	p.T512K	MED16_ENST00000395808.3_Missense_Mutation_p.T512K|MED16_ENST00000269814.4_Missense_Mutation_p.T512K|MED16_ENST00000325464.1_Missense_Mutation_p.T512K|MED16_ENST00000589119.1_Missense_Mutation_p.T512K|MED16_ENST00000606828.1_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	512					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCTGGCGCGTGTACTCCTC	0.697000													4	3					0.00909568	0.00912631	1	1	0
TTN	7273	broad.mit.edu	37	2	179429435	179429435	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:179429435C>G	ENST00000589042.1	-	326	81648	c.81424G>C	c.(81424-81426)Gag>Cag	p.E27142Q	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24574Q|TTN_ENST00000591111.1_Missense_Mutation_p.E25501Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18202Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E18077Q|TTN_ENST00000342175.6_Missense_Mutation_p.E18269Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25501	Ig-like 129.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTCATACTCAAGGCCCTCA	0.418000													19	30					0	0	1	0	0
UPK1A	11045	broad.mit.edu	37	19	36159496	36159496	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:36159496C>T	ENST00000222275.2	+	2	225	c.225C>T	c.(223-225)ttC>ttT	p.F75F	UPK1A_ENST00000379013.2_Silent_p.F75F|UPK1A-AS1_ENST00000443196.1_RNA	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	75					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCTCCTTCTTCATGGTAGCCA	0.597000													7	13					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86048162	86048162	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:86048162G>C	ENST00000414626.2	+	13	3122	c.2233G>C	c.(2233-2235)Gaa>Caa	p.E745Q	LRRCC1_ENST00000360375.3_Missense_Mutation_p.E765Q			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	765					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TTTAAGGACAGAAAGAAAAGT	0.363000													20	34					0	0	1	0	0
SERF2	10169	broad.mit.edu	37	15	44086132	44086132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:44086132C>T	ENST00000409960.2	+	3	522	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409291.1_Intron|RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000249786.4_3'UTR|SERF2_ENST00000339624.5_Nonsense_Mutation_p.Q122*|SERF2_ENST00000402131.1_3'UTR|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000403425.1_3'UTR|SERF2_ENST00000381359.1_3'UTR|SERF2_ENST00000409614.1_3'UTR	NM_001199875.1	NP_001186804.1	P84101	SERF2_HUMAN	small EDRK-rich factor 2	0						cytosol|nucleus				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		TCCTTCCCCTCAGGTAGCCTC	0.582000													4	5					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45872219	45872219	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:45872219T>C	ENST00000391945.4	-	4	292	c.215A>G	c.(214-216)tAc>tGc	p.Y72C	ERCC2_ENST00000391944.3_Missense_Mutation_p.Y72C|ERCC2_ENST00000221481.6_Missense_Mutation_p.Y72C|ERCC2_ENST00000485403.2_Missense_Mutation_p.Y48C|ERCC2_ENST00000391940.4_Missense_Mutation_p.Y48C	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	72	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TCTTGAGCAGTAGATGAGTTT	0.577000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				28	50					0	0	1	0	0
NRIP2	83714	broad.mit.edu	37	12	2944131	2944131	+	Missense_Mutation	SNP	G	G	C	rs146664830		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:2944131G>C	ENST00000337508.4	-	1	59	c.19C>G	c.(19-21)Ctt>Gtt	p.L7V		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	7					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GGGAGGGAAAGAGGAAAAATA	0.562000													15	23					0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50335123	50335123	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:50335123C>T	ENST00000394697.2	+	10	1706	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	ADCY7_ENST00000254235.3_Missense_Mutation_p.R456W|ADCY7_ENST00000538642.1_Missense_Mutation_p.R456W|ADCY7_ENST00000566433.2_Missense_Mutation_p.R456W|ADCY7_ENST00000537579.1_Intron			P51828	ADCY7_HUMAN	adenylate cyclase 7	456					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CATCGACCCCCGGGTACGAGG	0.682000													4	5					0	0	1	0	0
DCTPP1	79077	broad.mit.edu	37	16	30440456	30440456	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:30440456C>T	ENST00000319285.4	-	2	228	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	ZNF771_ENST00000566625.1_3'UTR|DCTPP1_ENST00000568434.1_5'UTR|DCTPP1_ENST00000565758.1_5'UTR|DCTPP1_ENST00000568973.1_5'UTR|DCTPP1_ENST00000567983.1_Intron	NM_024096.1	NP_077001.1	Q9H773	DCTP1_HUMAN	dCTP pyrophosphatase 1	45					nucleoside triphosphate catabolic process	cytosol	dCTP diphosphatase activity|identical protein binding|magnesium ion binding			kidney(1)|large_intestine(3)|upper_aerodigestive_tract(1)	5						TTCCCAGTCTCGTTCCGCAGC	0.567000													21	53					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144995411	144995411	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:144995411C>T	ENST00000322810.4	-	32	9158	c.8989G>A	c.(8989-8991)Gag>Aag	p.E2997K	PLEC_ENST00000398774.2_Missense_Mutation_p.E2828K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2860K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2883K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2864K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2838K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2860K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2846K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2887K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2997	Globular 2.				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						GTGAGGTTCTCGTGCGTGTTG	0.657000													45	81					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127685049	127685049	+	Silent	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:127685049A>G	ENST00000508053.1	-	29	3953	c.2979T>C	c.(2977-2979)cgT>cgC	p.R993R	FBN2_ENST00000508989.1_Silent_p.R960R|FBN2_ENST00000262464.4_Silent_p.R993R			P35556	FBN2_HUMAN	fibrillin 2	993	EGF-like 14; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCAAACATACACGGCCAGTCC	0.453000													8	6					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29245089	29245089	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:29245089C>T	ENST00000379558.4	+	11	1777	c.1426C>T	c.(1426-1428)Ctt>Ttt	p.L476F	FAM179A_ENST00000403861.2_Missense_Mutation_p.L421F|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	476							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAGATGGATCTTAGAGCCTG	0.542000													29	59					0	0	1	0	0
KDELR3	11015	broad.mit.edu	37	22	38875600	38875600	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr22:38875600G>A	ENST00000216014.4	+	3	367	c.195G>A	c.(193-195)gtG>gtA	p.V65V	KDELR3_ENST00000409006.3_Silent_p.V65V|KDELR3_ENST00000471268.1_3'UTR	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	65					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					CCTTTTAGGTGGTTTTTCTCC	0.438000													59	47					0	0	1	0	0
PELO	53918	broad.mit.edu	37	5	52096666	52096666	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:52096666C>T	ENST00000274311.2	+	2	1423	c.438C>T	c.(436-438)ctC>ctT	p.L146L	ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	146					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				AGGAAGGCCTCGCCCATATCT	0.582000													21	24					0	0	1	0	0
RCN3	57333	broad.mit.edu	37	19	50046469	50046469	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:50046469G>A	ENST00000270645.3	+	7	1433	c.986G>A	c.(985-987)tGa>tAa	p.*329*		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	0						endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		GATGAGCTGTGAGCACCGCGC	0.652000													8	10					0	0	1	0	0
SERPIND1	3053	broad.mit.edu	37	22	21134464	21134464	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr22:21134464G>A	ENST00000215727.5	+	2	1147	c.864G>A	c.(862-864)atG>atA	p.M288I	SERPIND1_ENST00000406799.1_Missense_Mutation_p.M288I|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	288					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CCCAGATGATGATTCTCAACT	0.423000													70	217					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13057683	13057683	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr18:13057683G>A	ENST00000506447.1	+	20	4288	c.4208G>A	c.(4207-4209)tGg>tAg	p.W1403*	CEP192_ENST00000430049.2_Nonsense_Mutation_p.W928*|CEP192_ENST00000325971.8_Nonsense_Mutation_p.W807*	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	998										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ACTGACCGCTGGCTGCAAGTC	0.498000													14	33					0	0	1	0	0
CLUH	23277	broad.mit.edu	37	17	2604800	2604800	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:2604800C>T	ENST00000570628.2	-	6	750	c.645G>A	c.(643-645)ctG>ctA	p.L215L	CLUH_ENST00000435359.1_Silent_p.L215L|CLUH_ENST00000538975.1_Silent_p.L215L					clustered mitochondria (cluA/CLU1) homolog																		TGAGTACTTTCAGGCACTGCA	0.662000													10	7					0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56637606	56637606	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:56637606C>T	ENST00000267116.7	-	27	3064	c.2943G>A	c.(2941-2943)ctG>ctA	p.L981L	ANKRD52_ENST00000548241.1_5'UTR	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	981							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CCCCATGACTCAGCAGGGCCT	0.567000													4	0					0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71119661	71119661	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:71119661G>A	ENST00000448642.2	+	8	729	c.340G>A	c.(340-342)Gat>Aat	p.D114N	HK1_ENST00000359426.6_Missense_Mutation_p.D79N|HK1_ENST00000298649.3_Missense_Mutation_p.D78N|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Missense_Mutation_p.D67N|HK1_ENST00000404387.2_Missense_Mutation_p.D83N			P19367	HXK1_HUMAN	hexokinase 1	79	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						AGAAAAGGGAGATTTCATTGC	0.483000													32	53					0	0	1	0	0
BIVM	54841	broad.mit.edu	37	13	103468829	103468829	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr13:103468829G>A	ENST00000257336.1	+	4	1209	c.530G>A	c.(529-531)aGa>aAa	p.R177K	BIVM_ENST00000448849.2_5'UTR|BIVM-ERCC5_ENST00000602836.1_Silent_p.K148K|BIVM_ENST00000419638.1_Missense_Mutation_p.R177K	NM_017693.3	NP_060163.2			basic, immunoglobulin-like variable motif containing											endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAAAAGGGAAGATATCAGAAG	0.328000													21	30					0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74684374	74684374	+	Missense_Mutation	SNP	G	G	A	rs139078371		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:74684374G>A	ENST00000334011.5	+	7	1557	c.1339G>A	c.(1339-1341)Gtc>Atc	p.V447I		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	447	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GATCGACGAGGTCCTGAAATA	0.552000													14	34					0	0	1	0	0
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139107066	139107066	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:139107066C>T	ENST00000354926.4	+	10	1513	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	C7orf55-LUC7L2_ENST00000482860.1_3'UTR|LUC7L2_ENST00000541515.3_Missense_Mutation_p.R453C|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.R384C|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.R386C	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2																					CTCTGAAGAGCGCGAAGCAGG	0.468000													22	73					0	0	1	0	0
DPP8	54878	broad.mit.edu	37	15	65759415	65759415	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:65759415G>A	ENST00000341861.5	-	13	3311	c.1731C>T	c.(1729-1731)atC>atT	p.I577I	DPP8_ENST00000559233.1_Silent_p.I577I|DPP8_ENST00000321147.6_Silent_p.I577I|DPP8_ENST00000358939.4_Silent_p.I561I|DPP8_ENST00000339244.5_Silent_p.I404I|DPP8_ENST00000300141.6_Silent_p.I561I|DPP8_ENST00000321118.7_Silent_p.I577I	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	577					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATACCTGACTGATGCAGCAAG	0.408000													12	11					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95419768	95419768	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:95419768C>T	ENST00000336148.5	-	5	804	c.680G>A	c.(679-681)tGt>tAt	p.C227Y		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GTTAGAGAAACATTTCCTGGC	0.428000								Direct reversal of damage;Homologous recombination					27	53					0	0	1	0	0
MCCC1	56922	broad.mit.edu	37	3	182804570	182804570	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:182804570C>T	ENST00000265594.4	-	4	426	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	MCCC1_ENST00000539926.1_Intron|MCCC1_ENST00000492597.1_5'UTR	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	94	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	GAATATGCTTCATCTGCCTGT	0.438000													6	5					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98187148	98187148	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:98187148T>A	ENST00000370192.3	-	5	501	c.401A>T	c.(400-402)gAt>gTt	p.D134V	DPYD_ENST00000423006.2_Missense_Mutation_p.D97V|DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000306031.5_Missense_Mutation_p.D134V	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	134					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TACACAAAGATCAGAGGTTGG	0.383000													12	61					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588651	247588651	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:247588651G>A	ENST00000366497.2	+	4	2686	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	NLRP3_ENST00000348069.2_Missense_Mutation_p.E636K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.E636K|NLRP3_ENST00000391827.2_Missense_Mutation_p.E636K|NLRP3_ENST00000391828.3_Missense_Mutation_p.E636K|NLRP3_ENST00000336119.3_Missense_Mutation_p.E636K	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	636					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTGTTTGTACGAGATGCAGGA	0.478000													20	30					0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15562865	15562865	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:15562865C>T	ENST00000343625.7	-	17	2968	c.2883G>A	c.(2881-2883)ctG>ctA	p.L961L		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3						negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CCAGGTTTTTCAGACTGTGCC	0.577000													25	45					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48749802	48749802	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:48749802C>T	ENST00000314191.2	-	58	7785	c.7729G>A	c.(7729-7731)Gag>Aag	p.E2577K	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E2577K	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2578	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGAGGATGCTCGAACATGGGG	0.373000								Non-homologous end-joining					6	16					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135781455	135781455	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:135781455C>T	ENST00000298552.3	-	15	1731	c.1510G>A	c.(1510-1512)Gac>Aac	p.D504N	TSC1_ENST00000440111.2_Missense_Mutation_p.D504N|TSC1_ENST00000545250.1_Missense_Mutation_p.D453N	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	504					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AAGGGAGAGTCAAAGCCTCCT	0.532000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				11	23					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50213550	50213550	+	RNA	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chrX:50213550G>A	ENST00000376025.2	-	0	187							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GAgcagcggcggagccggcgg	0.697000													20	9					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36214671	36214671	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:36214671G>A	ENST00000222270.7	+	8	3097	c.3097G>A	c.(3097-3099)Gat>Aat	p.D1033N	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.D1033N	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		CTGGGATTCCGATGAATCTCC	0.672000													5	8					0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148523641	148523641	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:148523641G>T	ENST00000320356.2	-	8	933	c.812C>A	c.(811-813)tCt>tAt	p.S271Y	EZH2_ENST00000476773.1_Missense_Mutation_p.S262Y|EZH2_ENST00000541220.1_Missense_Mutation_p.S262Y|EZH2_ENST00000483967.1_Missense_Mutation_p.S262Y|EZH2_ENST00000350995.2_Missense_Mutation_p.S232Y|EZH2_ENST00000460911.1_Missense_Mutation_p.S271Y|EZH2_ENST00000536783.1_Missense_Mutation_p.S162Y|EZH2_ENST00000478654.1_Missense_Mutation_p.S262Y	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	271	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TCTCTGAACAGATTTAGCATT	0.423000			Mis		DLBCL								15	37					6.72482e-11	6.94626e-11	1	1	0
HLA-C	3107	broad.mit.edu	37	6	31239458	31239458	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:31239458C>T	ENST00000383329.3	-	2	275	c.261G>A	c.(259-261)gaG>gaA	p.E87E	HLA-C_ENST00000376228.5_Silent_p.E87E			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	87	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						ACTTCTGTGTCTCCCGGTCCC	0.687000													16	14					0	0	1	0	0
MB21D2	151963	broad.mit.edu	37	3	192516517	192516517	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:192516517G>A	ENST00000392452.2	-	2	1454	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	378										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						ACTGAGGGATGAAATAATTGG	0.532000													19	46					0	0	1	0	0
TRAV29DV5	28653	broad.mit.edu	37	14	22631672	22631672	+	RNA	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:22631672C>T	ENST00000390458.3	+	0	375																											ATGGAAGATTCACTGTCTTCT	0.423000											OREG0022575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	17					0	0	1	0	0
HIPK3	10114	broad.mit.edu	37	11	33308756	33308756	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:33308756C>T	ENST00000303296.4	+	2	1101	c.796C>T	c.(796-798)Cag>Tag	p.Q266*	HIPK3_ENST00000379016.3_Nonsense_Mutation_p.Q266*|HIPK3_ENST00000525975.1_Nonsense_Mutation_p.Q266*|HIPK3_ENST00000456517.1_Nonsense_Mutation_p.Q266*	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	266	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TGAATGCTTTCAGCACCGTAA	0.368000													6	87					0	0	1	0	0
MAPRE2	10982	broad.mit.edu	37	18	32682030	32682030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr18:32682030C>T	ENST00000436190.2	+	5	755	c.481C>T	c.(481-483)Cga>Tga	p.R161*	MAPRE2_ENST00000589699.1_Nonsense_Mutation_p.R130*|MAPRE2_ENST00000300249.5_Nonsense_Mutation_p.R173*|MAPRE2_ENST00000538170.2_Nonsense_Mutation_p.R120*|MAPRE2_ENST00000588910.1_Nonsense_Mutation_p.R173*|MAPRE2_ENST00000413393.1_Nonsense_Mutation_p.R130*	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	173					cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						TGTAGAGGCACGACAAGGGCA	0.453000													18	14					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39228107	39228107	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:39228107G>A	ENST00000340369.3	-	2	3058	c.2830C>T	c.(2830-2832)Ctg>Ttg	p.L944L	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.L944L	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	944							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCCCACCGCAGACTGTGCAGG	0.637000													39	14					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17746218	17746218	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chrX:17746218C>G	ENST00000380060.3	+	6	4267	c.3929C>G	c.(3928-3930)aCt>aGt	p.T1310S	NHS_ENST00000398097.3_Missense_Mutation_p.T1154S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1310						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GACTCACCAACTAGAGCAACA	0.443000													49	20					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109369565	109369565	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:109369565C>T	ENST00000283195.6	+	13	1993	c.1867C>T	c.(1867-1869)Cct>Tct	p.P623S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	623					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAACAGTATTCCTGAACCTAT	0.308000													32	74					0	0	1	0	0
MAFK	7975	broad.mit.edu	37	7	1579901	1579901	+	Missense_Mutation	SNP	G	G	A	rs143840628		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:1579901G>A	ENST00000343242.4	+	3	590	c.361G>A	c.(361-363)Gtg>Atg	p.V121M		NM_002360.3	NP_002351.1	O60675	MAFK_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K	121					blood coagulation	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15)		CGCGCGCACCGTGGCCCGGGG	0.682000													3	7					0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156784856	156784856	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:156784856G>C	ENST00000537611.2	-	2	137	c.91C>G	c.(91-93)Ccc>Gcc	p.P31A	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	31						integral to membrane|plasma membrane											CGCTCAGTGGGAGATGGCAGT	0.388000													52	47					0	0	1	0	0
TMC6	11322	broad.mit.edu	37	17	76115385	76115385	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:76115385G>A	ENST00000590602.1	-	14	1963	c.1804C>T	c.(1804-1806)Ctg>Ttg	p.L602L	TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322933.4_Silent_p.L181L|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000322914.3_Silent_p.L602L|TMC6_ENST00000591436.1_Silent_p.L181L|TMC6_ENST00000392467.3_Silent_p.L602L			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	602						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CACCAGGTCAGAGTCTGCCCA	0.622000													33	46					0	0	1	0	0
ALKBH8	91801	broad.mit.edu	37	11	107427575	107427575	+	Missense_Mutation	SNP	C	C	T	rs150490382		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:107427575C>T	ENST00000428149.2	-	3	435	c.284G>A	c.(283-285)aGa>aAa	p.R95K	ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000389568.3_Missense_Mutation_p.R95K|ALKBH8_ENST00000417449.2_Missense_Mutation_p.R98K|ALKBH8_ENST00000429370.1_Missense_Mutation_p.R95K	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	95	RRM.				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		AACATAGGCTCTCTTAGATTC	0.378000													20	32					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150817139	150817139	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:150817139C>T	ENST00000397238.2	+	8	1035	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	AGAP3_ENST00000473312.1_Silent_p.I345I|AGAP3_ENST00000479901.1_Intron|AGAP3_ENST00000335367.3_Silent_p.I525I|AGAP3_ENST00000463381.1_Silent_p.I117I	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	309	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CCCCCAGCATCAGCCAGCGGG	0.652000													18	12					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186673207	186673207	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:186673207G>A	ENST00000343098.5	+	17	19441	c.19441G>A	c.(19441-19443)Gaa>Aaa	p.E6481K	FSIP2_ENST00000424728.1_Missense_Mutation_p.E6392K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GGTAACAGCTGAAATTTCCAG	0.343000													26	28					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202631985	202631985	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:202631985G>A	ENST00000264276.6	-	3	514	c.142C>T	c.(142-144)Ctc>Ttc	p.L48F	ALS2_ENST00000467448.1_Missense_Mutation_p.L48F|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	48					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TTCACTCCGAGGGCTGCCTGC	0.488000													14	31					0	0	1	0	0
MRPL41	64975	broad.mit.edu	37	9	140446839	140446839	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:140446839G>A	ENST00000371443.5	+	2	1094	c.306G>A	c.(304-306)aaG>aaA	p.K102K		NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	102					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		CCATCGAAAAGGACTTCAAGG	0.612000													13	18					0	0	1	0	0
TRAV4	28689	broad.mit.edu	37	14	22205041	22205041	+	RNA	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:22205041G>A	ENST00000390426.2	+	0	172																											GACAAGAAGTGAACATAACCT	0.438000													27	18					0	0	1	0	0
SNCB	6620	broad.mit.edu	37	5	176053748	176053748	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:176053748C>T	ENST00000310112.3	-	4	386	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	SNCB_ENST00000393693.2_Missense_Mutation_p.E46K|SNCB_ENST00000510387.1_Missense_Mutation_p.E46K|SNCB_ENST00000506696.1_Missense_Mutation_p.E46K	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	46	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).						calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCACACCTTCTCGGGTCTTG	0.577000													31	22					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20523043	20523043	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:20523043G>A	ENST00000359062.3	+	1	865	c.825G>A	c.(823-825)ctG>ctA	p.L275L	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	275					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.L275L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGTCCCAGCTGATTGCTGGGA	0.627000													17	29					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131392643	131392643	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:131392643G>A	ENST00000372739.3	+	52	6861	c.6751G>A	c.(6751-6753)Gaa>Aaa	p.E2251K	SPTAN1_ENST00000372731.4_Missense_Mutation_p.E2246K|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E2251K	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2246					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATCCCAGCTTGAAGCTACCAA	0.607000													22	33					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846157	123846157	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:123846157C>T	ENST00000369005.1	+	4	4482	c.4142C>T	c.(4141-4143)tCc>tTc	p.S1381F	TACC2_ENST00000515603.1_Missense_Mutation_p.S1381F|TACC2_ENST00000334433.3_Missense_Mutation_p.S1381F|TACC2_ENST00000453444.2_Missense_Mutation_p.S1381F|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.S1381F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1381						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGAGAGCCTTCCCAGGACCCA	0.612000													18	32					0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59888694	59888694	+	Silent	SNP	T	T	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr18:59888694T>G	ENST00000256858.6	+	5	1070	c.822T>G	c.(820-822)ctT>ctG	p.L274L	KIAA1468_ENST00000398130.2_Silent_p.L274L			Q9P260	K1468_HUMAN	KIAA1468	274	LisH.						binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				ACTATAAGCTTACATCAATAA	0.294000													30	17					0	0	1	0	0
CCDC151	115948	broad.mit.edu	37	19	11533473	11533473	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:11533473G>A	ENST00000356392.4	-	9	1260	c.1173C>T	c.(1171-1173)ctC>ctT	p.L391L	CCDC151_ENST00000591179.1_Silent_p.L331L|CCDC151_ENST00000545100.1_Silent_p.L337L|CCDC151_ENST00000586836.1_Silent_p.L200L	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	391										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TCTCGCTCTTGAGCGTCTCCA	0.657000													11	7					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13411423	13411423	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:13411423C>T	ENST00000360228.5	-	18	2219	c.2220G>A	c.(2218-2220)caG>caA	p.Q740Q	CACNA1A_ENST00000573710.2_Silent_p.Q741Q	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	741					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCTTGGCTTTCTGTAGGGCAA	0.522000													5	66					0	0	1	0	0
STK35	140901	broad.mit.edu	37	20	2083843	2083843	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:2083843G>A	ENST00000381482.3	+	2	995	c.724G>A	c.(724-726)Gag>Aag	p.E242K	STK35_ENST00000246032.3_Missense_Mutation_p.E109K|STK35_ENST00000400064.3_Missense_Mutation_p.E70K			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	242	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						CGAGAACGTGGAGCTGGCGCT	0.682000													5	11					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31864542	31864542	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:31864542C>T	ENST00000395728.3	-	2	339	c.340G>A	c.(340-342)Gac>Aac	p.D114N	EHMT2_ENST00000375537.4_Missense_Mutation_p.D57N|EHMT2_ENST00000375530.4_Missense_Mutation_p.D57N|EHMT2_ENST00000375528.4_Missense_Mutation_p.D114N			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	57					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TCCAGGGAGTCGGGGGTGGCC	0.582000													30	21					0	0	1	0	0
RDH10	157506	broad.mit.edu	37	8	74231361	74231361	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:74231361G>C	ENST00000240285.5	+	3	1234	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	RP11-434I12.2_ENST00000514599.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.E21Q|RP11-434I12.2_ENST00000517475.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	186					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TACGATGCTGGAGATTAATCA	0.383000													45	78					0	0	1	0	0
OR7A5	26659	broad.mit.edu	37	19	14938996	14938996	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:14938996C>T	ENST00000322301.3	-	2	145	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	OR7A5_ENST00000594432.1_Missense_Mutation_p.E20K|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						AGTCCAGGTTCTTGTGAAAAT	0.458000													24	20					0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68592492	68592492	+	Silent	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:68592492A>G	ENST00000234313.7	+	1	188	c.9A>G	c.(7-9)ccA>ccG	p.P3P	AC015969.3_ENST00000366218.2_RNA	NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	3					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GCATGGAACCAAAGCGGATCA	0.597000													32	47					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147449958	147449958	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:147449958C>G	ENST00000359874.3	+	3	227	c.154C>G	c.(154-156)Caa>Gaa	p.Q52E	SPINK5_ENST00000256084.7_Missense_Mutation_p.Q52E|SPINK5_ENST00000398454.1_Missense_Mutation_p.Q52E	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	52	Kazal-like 1; atypical.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATTTTTTCAAAGTCTTGA	0.328000													28	22					0	0	1	0	0
DUSP16	80824	broad.mit.edu	37	12	12630261	12630261	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:12630261G>C	ENST00000228862.2	-	7	2135	c.1504C>G	c.(1504-1506)Cca>Gca	p.P502A	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	502					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CGATGCAGTGGAGATAAAAGG	0.587000													37	58					0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106633728	106633728	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:106633728C>T	ENST00000378026.4	-	2	1019	c.883G>A	c.(883-885)Gag>Aag	p.E295K	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	295						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						GTCTGTATCTCCTTCACAGCT	0.517000													35	86					0	0	1	0	0
CREB3L4	148327	broad.mit.edu	37	1	153941087	153941087	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:153941087G>A	ENST00000368607.3	+	2	352	c.86G>A	c.(85-87)gGa>gAa	p.G29E	CREB3L4_ENST00000368600.3_Missense_Mutation_p.G29E|CREB3L4_ENST00000368603.1_Missense_Mutation_p.G29E|CREB3L4_ENST00000271889.4_Missense_Mutation_p.G29E|CREB3L4_ENST00000405694.3_5'UTR|CREB3L4_ENST00000368601.1_Missense_Mutation_p.G29E	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	29					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGGAGCTGGGACTCCACTGC	0.617000													30	39					0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74093986	74093986	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:74093986G>A	ENST00000607838.1	-	5	625	c.531C>T	c.(529-531)gaC>gaT	p.D177D	EXOC7_ENST00000332065.5_Silent_p.D177D|EXOC7_ENST00000405575.4_Silent_p.D177D|EXOC7_ENST00000411744.2_Silent_p.D177D|EXOC7_ENST00000335146.7_Silent_p.D177D|EXOC7_ENST00000467929.2_Silent_p.D136D|EXOC7_ENST00000589210.1_Silent_p.D177D	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	177					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CCAGATCATCGTCACCACTGA	0.617000													34	77					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1932436	1932436	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:1932436G>A	ENST00000503128.1	+	6	1701	c.1494G>A	c.(1492-1494)caG>caA	p.Q498Q	WHSC1_ENST00000514045.1_Silent_p.Q498Q|WHSC1_ENST00000382895.3_Silent_p.Q498Q|WHSC1_ENST00000420906.2_Silent_p.Q498Q|WHSC1_ENST00000382892.2_Silent_p.Q498Q|WHSC1_ENST00000382891.5_Silent_p.Q498Q|WHSC1_ENST00000398261.1_Silent_p.Q498Q|WHSC1_ENST00000508803.1_Silent_p.Q498Q			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	498					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GTGAGAAGCAGAGAGCACGCT	0.537000			T	IGH@	MM								17	28					0	0	1	0	0
IGLC2	3538	broad.mit.edu	37	22	23243367	23243367	+	RNA	SNP	T	T	C	rs8033	by1000genomes	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr22:23243367T>C	ENST00000390323.2	+	0	212																											CCAGCAGCTATCTGAGCCTGA	0.587000													4	36					0	0	1	0	0
ZBTB18	10472	broad.mit.edu	37	1	244218534	244218534	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:244218534G>A	ENST00000358704.4	+	2	1607	c.1458G>A	c.(1456-1458)caG>caA	p.Q486Q		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18																		GGTTCACGCAGTCCGGGGACC	0.587000													14	42					0	0	1	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73444931	73444931	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:73444931C>T	ENST00000556143.1	-	7	2151	c.1431G>A	c.(1429-1431)gaG>gaA	p.E477E	ZFYVE1_ENST00000555072.1_Silent_p.E62E|ZFYVE1_ENST00000553891.1_Silent_p.E477E|ZFYVE1_ENST00000318876.5_Silent_p.E477E|ZFYVE1_ENST00000394207.2_Silent_p.E62E|ZFYVE1_ENST00000554145.1_Intron	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	477						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CCTCGCCTCTCTCATAGCAGG	0.463000													22	18					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47177528	47177528	+	Missense_Mutation	SNP	G	G	A	rs147914967		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:47177528G>A	ENST00000319190.5	+	2	579	c.211G>A	c.(211-213)Gag>Aag	p.E71K	TTC7A_ENST00000536057.1_Missense_Mutation_p.E71K|TTC7A_ENST00000394850.2_Missense_Mutation_p.E71K|TTC7A_ENST00000409245.1_Missense_Mutation_p.E37K|TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000461601.1_3'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	71							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCTGCTGGCTGAGGCCCTCCT	0.502000													64	96					0	0	1	0	0
PTRF	284119	broad.mit.edu	37	17	40557078	40557078	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:40557078C>T	ENST00000357037.5	-	2	1219	c.800G>A	c.(799-801)cGg>cAg	p.R267Q		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	267					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CAGGGTGTGCCGCGTCTTCTC	0.607000													21	12					0	0	1	0	0
SIRPB2	284759	broad.mit.edu	37	20	1458977	1458977	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:1458977C>T	ENST00000359801.3	-	3	763	c.727G>A	c.(727-729)Gta>Ata	p.V243I	SIRPB2_ENST00000537284.1_Missense_Mutation_p.V105I|SIRPB2_ENST00000444444.2_Missense_Mutation_p.V145I	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	243	Ig-like V-type 2.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGAAACTTTACACAGTAATAG	0.512000													24	48					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103142766	103142766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:103142766C>T	ENST00000295269.4	+	11	2456	c.1999C>T	c.(1999-2001)Cag>Tag	p.Q667*		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	667					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CGGGAATCCTCAGTCTGCAGG	0.507000													24	44					0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7254567	7254567	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:7254567G>A	ENST00000266542.4	-	3	509	c.417C>T	c.(415-417)ttC>ttT	p.F139F	C1RL_ENST00000545280.1_Intron|C1RL_ENST00000545337.1_Silent_p.F139F|C1RL_ENST00000544702.1_Silent_p.F139F	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	139	CUB.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCTGTGTGCGGAAGGTCAGCC	0.627000													50	76					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155316194	155316194	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:155316194C>G	ENST00000368346.3	-	21	8524	c.7885G>C	c.(7885-7887)Gac>Cac	p.D2629H	ASH1L_ENST00000392403.3_Missense_Mutation_p.D2624H|MIR555_ENST00000384987.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2629					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGCCTTGGGTCACACTGCTCA	0.478000													39	51					0	0	1	0	0
DDI2	84301	broad.mit.edu	37	1	15978369	15978369	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:15978369C>G	ENST00000480945.1	+	8	1333	c.1162C>G	c.(1162-1164)Caa>Gaa	p.Q388E		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	388					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGAAGCCCTTCAAAAATCAGC	0.512000													13	16					0	0	1	0	0
LINS	55180	broad.mit.edu	37	15	101109805	101109805	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:101109805C>G	ENST00000314742.8	-	7	2134	c.1912G>C	c.(1912-1914)Gaa>Caa	p.E638Q		NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	638										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TCTGTGGATTCCACGTCAGAA	0.493000													40	24					0	0	1	0	0
OSR2	116039	broad.mit.edu	37	8	99961579	99961579	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:99961579G>C	ENST00000297565.4	+	2	895	c.399G>C	c.(397-399)atG>atC	p.M133I	OSR2_ENST00000522510.1_Missense_Mutation_p.M133I|OSR2_ENST00000435298.2_Missense_Mutation_p.M133I|OSR2_ENST00000457907.2_Missense_Mutation_p.M254I|OSR2_ENST00000523368.1_Missense_Mutation_p.M133I	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	133					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CGCCTAAGATGGGAGACCTGA	0.612000													48	103					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57173841	57173841	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:57173841C>T	ENST00000504228.1	+	3	366	c.261C>T	c.(259-261)atC>atT	p.I87I	KIAA1211_ENST00000264229.6_Silent_p.I87I|KIAA1211_ENST00000541073.1_Silent_p.I80I			Q6ZU35	K1211_HUMAN	KIAA1211	87										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGCAGGACATCGTCCTCTCAG	0.517000													16	28					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32624002	32624002	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:32624002G>A	ENST00000345122.3	+	7	4672	c.4357G>A	c.(4357-4359)Gaa>Aaa	p.E1453K	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.E1452K|ARHGAP5_ENST00000433497.1_Missense_Mutation_p.E192K|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.E1453K|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.E1452K|ARHGAP5_ENST00000396582.2_Missense_Mutation_p.E188K	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1453					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)		TTACAATGGAGAAATTGTAGA	0.418000													26	11					0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36892168	36892168	+	Silent	SNP	G	G	A	rs113645261	byFrequency	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr22:36892168G>A	ENST00000397224.4	-	7	1563	c.1470C>T	c.(1468-1470)caC>caT	p.H490H	FOXRED2_ENST00000366463.3_Silent_p.H42H|FOXRED2_ENST00000216187.6_Silent_p.H490H|FOXRED2_ENST00000397223.4_Silent_p.H490H	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	490					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CGAAGAGCCCGTGCTTTGCCT	0.547000													4	52					0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57870952	57870952	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:57870952G>A	ENST00000393797.2	-	8	1262	c.1070C>T	c.(1069-1071)cCg>cTg	p.P357L	ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.P102L|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.P286L|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P286L|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.P286L|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.P365L			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	286	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TGGGTCAAGCGGTTCTGGGGT	0.522000													21	41					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121126442	121126442	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:121126442G>A	ENST00000273666.6	+	24	3283	c.3012G>A	c.(3010-3012)atG>atA	p.M1004I	STXBP5L_ENST00000497029.1_Missense_Mutation_p.M978I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.M980I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.M980I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.M1004I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1004					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GACATATCATGATAATGAGGT	0.373000													32	35					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19290767	19290767	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:19290767C>G	ENST00000602925.1	+	5	1110	c.694C>G	c.(694-696)Ctt>Gtt	p.L232V	DENND4C_ENST00000434457.2_Missense_Mutation_p.L232V|DENND4C_ENST00000380432.2_5'UTR	NM_017925.5	NP_060395.5	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	0	DENN.					integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGATGTACCTCTTTTCTGCCT	0.363000													16	10					0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139265753	139265753	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:139265753G>A	ENST00000450536.2	-	5	1209	c.635C>T	c.(634-636)tCt>tTt	p.S212F	REPS1_ENST00000409812.2_Missense_Mutation_p.S212F|REPS1_ENST00000258062.5_Missense_Mutation_p.S212F|REPS1_ENST00000415951.2_Missense_Mutation_p.S212F|REPS1_ENST00000367663.4_Missense_Mutation_p.S212F			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	212						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		ATCACCAGCAGAAGAACCTAT	0.428000													22	28					0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158557520	158557520	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:158557520C>T	ENST00000251527.5	-	9	1158	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	393						integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TCCTGAGCTTCAATAAAATGT	0.428000													34	64					0	0	1	0	0
DLD	1738	broad.mit.edu	37	7	107531736	107531736	+	Splice_Site	SNP	T	T	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:107531736T>A	ENST00000205402.5	+	1	320		c.e1+2		DLD_ENST00000537148.1_Splice_Site|DLD_ENST00000440410.1_Splice_Site|DLD_ENST00000437604.2_Splice_Site	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase						branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	TTGGCCAAGGTGAGGGCCGAG	0.622000													12	21					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116594297	116594297	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:116594297A>G	ENST00000410059.1	+	24	2637	c.2157A>G	c.(2155-2157)atA>atG	p.I719M	DPP10_ENST00000310323.8_Missense_Mutation_p.I712M|DPP10_ENST00000393147.2_Missense_Mutation_p.I723M|DPP10_ENST00000409163.1_Missense_Mutation_p.I669M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	719					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAGAAAATATATTAATAATTC	0.333000													44	62					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			20	15					0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171174530	171174530	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:171174530G>A	ENST00000441535.1	+	7	1057	c.940G>A	c.(940-942)Gag>Aag	p.E314K	RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.E314K|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	314			E -> G (in dbSNP:rs2020863).		drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCCATCTTTGAGGATGGAAC	0.413000													25	32					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72024481	72024481	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:72024481G>C	ENST00000378743.3	-	18	3981	c.3623C>G	c.(3622-3624)aCa>aGa	p.T1208R		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1208					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCGGCTAAGTGTATAGTCTTG	0.318000													14	30					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	4277529	4277529	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:4277529A>G	ENST00000602557.1	-	3	916	c.361T>C	c.(361-363)Tgg>Cgg	p.W121R	CSMD1_ENST00000602723.1_Missense_Mutation_p.W121R|CSMD1_ENST00000542608.1_Missense_Mutation_p.W121R|CSMD1_ENST00000520002.1_Missense_Mutation_p.W121R|CSMD1_ENST00000400186.3_Missense_Mutation_p.W121R|CSMD1_ENST00000539096.1_Missense_Mutation_p.W121R|CSMD1_ENST00000537824.1_Missense_Mutation_p.W121R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	121	CUB 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTCGTGAACCACAGAGTGAGG	0.413000													3	5					0	0	1	0	0
GSK3A	2931	broad.mit.edu	37	19	42744259	42744259	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:42744259G>A	ENST00000398249.4	-	1	1786	c.73C>T	c.(73-75)Cta>Tta	p.L25L	AC006486.9_ENST00000594664.1_Silent_p.L20L|GSK3A_ENST00000222330.3_Silent_p.L107L			P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	107	Gly-rich.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CCTTGGCCTAGAGTGGCTACG	0.587000													18	40					0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2900171	2900171	+	Silent	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:2900171C>G	ENST00000355842.3	+	9	1760	c.897C>G	c.(895-897)ctC>ctG	p.L299L	ADD1_ENST00000264758.7_Silent_p.L299L|ADD1_ENST00000398129.1_Silent_p.L299L|ADD1_ENST00000513328.2_Silent_p.L299L|ADD1_ENST00000398125.1_Silent_p.L299L|ADD1_ENST00000398123.2_Silent_p.L299L|ADD1_ENST00000446856.1_Silent_p.L299L|ADD1_ENST00000503455.2_Silent_p.L299L			P35611	ADDA_HUMAN	adducin 1 (alpha)	299					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTCTTATTCTCCGGAACCATG	0.493000													57	94					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90119460	90119460	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:90119460G>A	ENST00000268138.7	+	1	748	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Missense_Mutation_p.E215K					TOPBP1-interacting checkpoint and replication regulator																		GGATACCACCGAATGGTCTAA	0.542000													10	11					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55304265	55304265	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:55304265C>G	ENST00000398661.2	-	9	1109	c.978G>C	c.(976-978)ttG>ttC	p.L326F	HMGCLL1_ENST00000274901.4_Missense_Mutation_p.L296F|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.L264F|HMGCLL1_ENST00000507223.1_5'UTR|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.L130F|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.L193F	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	326							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCATATATATCAAATCCTCAG	0.418000													30	22					0	0	1	0	0
REEP1	65055	broad.mit.edu	37	2	86459890	86459890	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:86459890G>A	ENST00000541910.1	-	4	361	c.218C>T	c.(217-219)tCa>tTa	p.S73L	REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000540790.1_Silent_p.F130F|REEP1_ENST00000538924.1_Silent_p.F158F|REEP1_ENST00000165698.5_Silent_p.F151F|REEP1_ENST00000535845.1_Silent_p.F124F	NM_001164732.1	NP_001158204.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	0					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCTGCATGCTGAAGCTCCGCA	0.667000													13	18					0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127961459	127961459	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:127961459G>C	ENST00000223073.2	-	14	1537	c.1423C>G	c.(1423-1425)Cag>Gag	p.Q475E	RBM28_ENST00000415472.2_Missense_Mutation_p.Q334E|RBM28_ENST00000481788.1_5'UTR	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28						mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TTGAGTTTCTGATGCTTCAGC	0.433000													15	30					0	0	1	0	0
GPR62	118442	broad.mit.edu	37	3	51990695	51990695	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:51990695G>A	ENST00000322241.4	+	1	1366	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	343						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGCCCTTCTGAGGCTCCAGA	0.672000													22	10					0	0	1	0	0
PNPT1	87178	broad.mit.edu	37	2	55882034	55882034	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:55882034C>T	ENST00000447944.2	-	18	1582		c.e18+1			NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1						mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AATTCTTTTACCTGAATCCAT	0.413000													20	51					0	0	1	0	0
ACTL10	170487	broad.mit.edu	37	20	32255571	32255571	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:32255571G>A	ENST00000330271.4	+	1	1268	c.268G>A	c.(268-270)Gac>Aac	p.D90N	NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron	NM_001024675.1	NP_001019846.1	Q5JWF8	CT134_HUMAN	actin-like 10	90																	CGTGTCCCTGGACTTCGAGGG	0.672000													14	18					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:137328351C>T	ENST00000540193.1	+	9	1912	c.989C>T	c.(988-990)tCc>tTc	p.S330F	RXRA_ENST00000481739.1_Missense_Mutation_p.S427F|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCTCTGCGCTCCATCGGGCTC	0.607000													25	48					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53607867	53607867	+	Silent	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:53607867G>C	ENST00000425354.2	-	7	1276	c.789C>G	c.(787-789)ctC>ctG	p.L263L	RARG_ENST00000543726.1_Silent_p.L241L|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Silent_p.L191L|RARG_ENST00000394426.1_Silent_p.L263L|RARG_ENST00000338561.5_Silent_p.L252L	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	263	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGGCAGCTTTGAGCAGAGTGA	0.532000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	66	136					0	0	1	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148930407	148930407	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:148930407C>T	ENST00000261798.5	-	1	553	c.121G>A	c.(121-123)Gag>Aag	p.E41K	CSNK1A1_ENST00000515768.1_Missense_Mutation_p.E41K|CSNK1A1_ENST00000377843.2_Missense_Mutation_p.E41K|CSNK1A1_ENST00000515748.2_Missense_Mutation_p.E41K	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	41	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity	p.E41*(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		ATGATTACCTCGCCGTTGGTG	0.547000													25	17					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27536750	27536750	+	RNA	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:27536750C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							AATTTGTTACCTAGAAGGCTG	0.348000													4	9					0	0	1	0	0
ICT1	3396	broad.mit.edu	37	17	73016475	73016475	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:73016475G>A	ENST00000301585.5	+	4	364	c.351G>A	c.(349-351)caG>caA	p.Q117Q		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	117					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					CCGTGCGGCAGAAGATAGCCA	0.507000													20	29					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9580108	9580108	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:9580108C>T	ENST00000285199.7	+	5	975	c.879C>T	c.(877-879)ttC>ttT	p.F293F	USP43_ENST00000570475.1_Silent_p.F293F|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GCCAGCGGTTCCTGCGGGTTG	0.557000													8	4					0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	155410	155410	+	RNA	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:155410C>T	ENST00000510175.1	+	0	845							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AAACCCTTCTCATGCGAAGAA	0.388000													10	17					0	0	1	0	0
SMUG1	23583	broad.mit.edu	37	12	54576210	54576210	+	Silent	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:54576210G>C	ENST00000508394.2	-	3	545	c.483C>G	c.(481-483)gtC>gtG	p.V161V	SMUG1_ENST00000401977.2_Silent_p.V161V|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000337581.3_Silent_p.V161V|SMUG1_ENST00000505128.1_3'UTR	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	161				Missing (in Ref. 3; BAC03670).	depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity			kidney(1)|large_intestine(4)|lung(1)	6						ATAGATTGTGGACAAAACAGT	0.562000								Base excision repair (BER), DNA glycosylases					34	74					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144996723	144996723	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:144996723C>G	ENST00000322810.4	-	31	7954	c.7785G>C	c.(7783-7785)gaG>gaC	p.E2595D	PLEC_ENST00000398774.2_Missense_Mutation_p.E2426D|PLEC_ENST00000345136.3_Missense_Mutation_p.E2458D|PLEC_ENST00000527096.1_Missense_Mutation_p.E2481D|PLEC_ENST00000357649.2_Missense_Mutation_p.E2462D|PLEC_ENST00000354958.2_Missense_Mutation_p.E2436D|PLEC_ENST00000354589.3_Missense_Mutation_p.E2458D|PLEC_ENST00000356346.3_Missense_Mutation_p.E2444D|PLEC_ENST00000436759.2_Missense_Mutation_p.E2485D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2595	Central fibrous rod domain.				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						GCTTCTCCTTCTCACGCTCCA	0.637000													9	19					0	0	1	0	0
OR1D4	653166	broad.mit.edu	37	17	3144083	3144083	+	RNA	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:3144083G>A	ENST00000531680.1	+	0	114					NR_033795.1				olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene)																		ACCTGGTCACGGTGCTGGGAA	0.537000													22	24					0	0	1	0	0
C16orf86	388284	broad.mit.edu	37	16	67702120	67702120	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:67702120C>T	ENST00000403458.4	+	4	726	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W		NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	191										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCAGCGCCTGCGGCCGCTGTA	0.657000											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	10					0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16358726	16358726	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:16358726G>A	ENST00000375692.1	+	18	1913	c.1785G>A	c.(1783-1785)caG>caA	p.Q595Q	CLCNKA_ENST00000331433.4_Silent_p.Q595Q|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Silent_p.Q595Q|CLCNKA_ENST00000439316.2_Silent_p.Q552Q			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	595	CBS 1.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GCATCGTGCAGAGGGCCCAGC	0.642000													15	33					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92345823	92345823	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr13:92345823C>G	ENST00000377067.3	+	3	1080	c.708C>G	c.(706-708)atC>atG	p.I236M		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	236						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TTGAAGTCATCAACACCACAG	0.532000													24	40					0	0	1	0	0
SEPT3	55964	broad.mit.edu	37	22	42392933	42392933	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr22:42392933C>T	ENST00000396426.3	+	11	1294	c.1039C>T	c.(1039-1041)Cca>Tca	p.P347S	SEPT3_ENST00000406029.1_Missense_Mutation_p.P283S|SEPT3_ENST00000396425.3_3'UTR|SEPT3_ENST00000328414.8_3'UTR	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	347					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CACTGTCCTTCCACCTGTGCC	0.577000													46	30					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109805873	109805873	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:109805873C>T	ENST00000271332.3	+	8	4879	c.4818C>T	c.(4816-4818)ggC>ggT	p.G1606G		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1606	EGF-like 4; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCTTTGGGGGCAAGAGCTGCG	0.637000													8	26					0	0	1	0	0
PNKD	25953	broad.mit.edu	37	2	219137299	219137299	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:219137299C>T	ENST00000248451.3	+	3	387	c.243C>T	c.(241-243)atC>atT	p.I81I	PNKD_ENST00000273077.4_Intron|PNKD_ENST00000472650.1_Intron	NM_001077399.2	NP_001070867.1	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	0						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTAGGGCCATCGGCTTCCCTT	0.587000											OREG0015199	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	26					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48517101	48517101	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:48517101C>T	ENST00000358350.4	-	56	8485	c.7881G>A	c.(7879-7881)ctG>ctA	p.L2627L	FRYL_ENST00000264319.7_Silent_p.L23L|FRYL_ENST00000503238.1_Silent_p.L2627L|FRYL_ENST00000537810.1_Silent_p.L2627L|FRYL_ENST00000507873.2_Silent_p.L23L	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2627					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTAGCTCTTTCAGAGCTAAGG	0.428000													38	69					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36762187	36762187	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:36762187G>A	ENST00000354618.5	+	9	2343	c.2119G>A	c.(2119-2121)Gag>Aag	p.E707K	THRAP3_ENST00000469141.2_Missense_Mutation_p.E707K	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	707					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGATAGGCTGAGGGAAAATA	0.408000			T	USP6	aneurysmal bone cysts								27	15					0	0	1	0	0
DBF4	10926	broad.mit.edu	37	7	87533643	87533643	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:87533643A>G	ENST00000265728.1	+	11	1465	c.961A>G	c.(961-963)Agt>Ggt	p.S321G		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	321					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CTTTGCACAGAGTAACCAGTA	0.284000													26	26					0	0	1	0	0
ZNF263	10127	broad.mit.edu	37	16	3340089	3340089	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:3340089C>T	ENST00000219069.5	+	6	2459	c.1583C>T	c.(1582-1584)tCt>tTt	p.S528F	ZNF263_ENST00000538765.1_Missense_Mutation_p.S176F	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	528					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						AAAAGTTTCTCTCGGAGTTCA	0.507000													10	34					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64119604	64119604	+	Silent	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:64119604C>G	ENST00000356786.5	+	19	3146	c.3102C>G	c.(3100-3102)gcC>gcG	p.A1034A	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Silent_p.A186A	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1034					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CATCCTAGGCCGAGAAGTCTG	0.667000													16	20					0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2209868	2209868	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:2209868G>A	ENST00000511885.2	-	5	913	c.560C>T	c.(559-561)tCt>tTt	p.S187F	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Missense_Mutation_p.S187F			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	187					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TGAGTTCCCAGAATTTAGGTA	0.368000								DNA polymerases (catalytic subunits)					33	54					0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42434263	42434263	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:42434263G>A	ENST00000397272.3	-	20	2566	c.2475C>T	c.(2473-2475)gtC>gtT	p.V825V	PLA2G4F_ENST00000382396.4_Silent_p.V823V	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	823	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CGTTGTTCAGGACGTTGTATC	0.597000													25	13					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167095044	167095044	+	Missense_Mutation	SNP	G	G	A	rs144186156		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:167095044G>A	ENST00000361200.2	+	6	842	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	DUSP27_ENST00000443333.1_Missense_Mutation_p.E226K|DUSP27_ENST00000271385.5_Missense_Mutation_p.E226K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	226	Tyrosine-protein phosphatase.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGTCAGCAGCGAAATGGGCAT	0.478000													26	42					0	0	1	0	0
SCN1B	6324	broad.mit.edu	37	19	35524891	35524891	+	Silent	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:35524891C>G	ENST00000415950.3	+	3	696	c.696C>G	c.(694-696)ctC>ctG	p.L232L	SCN1B_ENST00000595652.1_Intron|SCN1B_ENST00000596348.1_Intron|SCN1B_ENST00000262631.5_Intron	NM_199037.3	NP_950238.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	0					axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			gaacccagctctgtcacctgt	0.592000													3	4					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7182305	7182305	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:7182305G>A	ENST00000379938.2	+	4	698	c.161G>A	c.(160-162)aGa>aAa	p.R54K	RREB1_ENST00000379933.3_Missense_Mutation_p.R54K|RREB1_ENST00000334984.6_Missense_Mutation_p.R54K|RREB1_ENST00000349384.6_Missense_Mutation_p.R54K	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	54					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CGGATTGGCAGAAGGAACCAG	0.527000													23	15					0	0	1	0	0
ZRANB2	9406	broad.mit.edu	37	1	71544365	71544365	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:71544365C>T	ENST00000370920.3	-	2	384	c.83G>A	c.(82-84)aGa>aAa	p.R28K	ZRANB2_ENST00000254821.6_Missense_Mutation_p.R28K	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	28					mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						ACAGCTGGTTCTTCTAGCAAA	0.274000													31	64					0	0	1	0	0
C4orf33	132321	broad.mit.edu	37	4	130023826	130023826	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:130023826A>G	ENST00000281146.5	+	2	782	c.61A>G	c.(61-63)Atc>Gtc	p.I21V	C4orf33_ENST00000425929.1_Missense_Mutation_p.I21V|C4orf33_ENST00000502887.1_Missense_Mutation_p.I21V	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GCCCGTATTTATCAGGCTGAA	0.408000													33	80					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99772144	99772144	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:99772144G>C	ENST00000370185.3	+	7	2367	c.1870G>C	c.(1870-1872)Gag>Cag	p.E624Q	LPPR4_ENST00000370184.1_Missense_Mutation_p.E466Q|LPPR4_ENST00000457765.1_Missense_Mutation_p.E566Q	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		624							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGTGAGGGTTGAGGCTCACCC	0.562000													20	37					0	0	1	0	0
MTFR1L	56181	broad.mit.edu	37	1	26153217	26153217	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:26153217G>A	ENST00000466284.1	+	4	1933	c.351G>A	c.(349-351)ctG>ctA	p.L117L	MTFR1L_ENST00000524618.1_Silent_p.L20L|MTFR1L_ENST00000474295.1_Silent_p.L117L|MTFR1L_ENST00000469815.1_Intron|MTFR1L_ENST00000374307.5_Silent_p.L117L|MTFR1L_ENST00000374300.3_Silent_p.L117L|MTFR1L_ENST00000374303.2_Silent_p.L117L|MTFR1L_ENST00000526894.1_Silent_p.L117L|MTFR1L_ENST00000374301.3_Silent_p.L117L					mitochondrial fission regulator 1-like																		TTCTGGCCCTGAAGAAGCCAG	0.607000													33	60					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96012152	96012152	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:96012152C>G	ENST00000371380.3	+	8	3411	c.3176C>G	c.(3175-3177)cCc>cGc	p.P1059R	PLCE1_ENST00000260766.3_Missense_Mutation_p.P1059R|PLCE1_ENST00000371375.1_Missense_Mutation_p.P751R|PLCE1_ENST00000371385.3_Missense_Mutation_p.P751R			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCTCGAAACCCCAGCCCCGGA	0.507000													14	44					0	0	1	0	0
ATL3	25923	broad.mit.edu	37	11	63398817	63398817	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:63398817G>C	ENST00000398868.3	-	12	1510	c.1234C>G	c.(1234-1236)Cgt>Ggt	p.R412G	ATL3_ENST00000538786.1_Missense_Mutation_p.R394G|ATL3_ENST00000332645.4_Missense_Mutation_p.R439G	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	412					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						TGCTGGTAACGAAAGCTGAAA	0.463000													39	60					0	0	1	0	0
IGFLR1	79713	broad.mit.edu	37	19	36231306	36231306	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:36231306C>T	ENST00000592537.1	-	3	417	c.317G>A	c.(316-318)gGc>gAc	p.G106D	IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000344990.3_Intron|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000246532.1_Missense_Mutation_p.G106D			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	106						integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						CGGGGTTCTGCCCCCGCCCGC	0.706000													5	20					0	0	1	0	0
CARD16	114769	broad.mit.edu	37	11	104912200	104912200	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:104912200T>C	ENST00000375706.2	-	3	538	c.521A>G	c.(520-522)cAt>cGt	p.H174R	CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16											endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						AGATCCTTTATGCAAGGGGAG	0.383000													32	53					0	0	1	0	0
BFAR	51283	broad.mit.edu	37	16	14738279	14738279	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:14738279C>T	ENST00000261658.2	+	2	353	c.76C>T	c.(76-78)Cag>Tag	p.Q26*	BFAR_ENST00000563971.1_Nonsense_Mutation_p.Q26*|BFAR_ENST00000426842.2_5'UTR	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	26					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CACCGGCCCTCAGATTTCTGT	0.493000													40	63					0	0	1	0	0
CRYM	1428	broad.mit.edu	37	16	21272618	21272618	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:21272618C>T	ENST00000219599.3	-	9	1102	c.837G>A	c.(835-837)gtG>gtA	p.V279V	CRYM_ENST00000415987.2_Silent_p.V237V|CRYM_ENST00000396023.2_Silent_p.V279V|CRYM_ENST00000543948.1_Silent_p.V279V	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	279					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	GGGCTGGTTTCACTCCCTTAA	0.517000													14	26					0	0	1	0	0
LACE1	246269	broad.mit.edu	37	6	108676919	108676919	+	Silent	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:108676919A>G	ENST00000368977.4	+	4	663	c.477A>G	c.(475-477)aaA>aaG	p.K159K		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	159							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AGAGGAAAAAACGGGTTCATT	0.313000													34	16					0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113515257	113515257	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:113515257C>T	ENST00000257600.3	+	2	791	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	96	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGCGCAACTTCTACGACCCGT	0.672000													13	26					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119905579	119905579	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:119905579C>T	ENST00000464295.1	-	6	971	c.526G>A	c.(526-528)Gat>Aat	p.D176N	GPR156_ENST00000461057.1_Missense_Mutation_p.D176N|GPR156_ENST00000315843.3_Missense_Mutation_p.D176N			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	176						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGGATCACATCAGCCATCAAC	0.502000													32	66					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53301296	53301296	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:53301296G>A	ENST00000566029.1	+	21	4620	c.4411G>A	c.(4411-4413)Gaa>Aaa	p.E1471K	CHD9_ENST00000447540.1_Missense_Mutation_p.E1471K|CHD9_ENST00000398510.3_Missense_Mutation_p.E1471K|CHD9_ENST00000564845.1_Missense_Mutation_p.E1471K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1471					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATCTGAAGCTGAAAGTGAAGG	0.413000													27	34					0	0	1	0	0
ATP5C1	509	broad.mit.edu	37	10	7844317	7844317	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:7844317C>T	ENST00000356708.7	+	7	801	c.722C>T	c.(721-723)tCt>tTt	p.S241F	ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000335698.4_Missense_Mutation_p.S241F|ATP5C1_ENST00000541227.1_Missense_Mutation_p.S194F	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	241					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						ATCTACTACTCTCTGAAGGAG	0.448000													14	40					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6161924	6161924	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:6161924C>T	ENST00000261405.5	-	16	2225	c.1971G>A	c.(1969-1971)gtG>gtA	p.V657V		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	657	TIL 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACTGCAGGTACACCTGGCCTT	0.597000													11	26					0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71152464	71152464	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:71152464G>A	ENST00000355527.3	-	6	711	c.435C>T	c.(433-435)atC>atT	p.I145I	DHCR7_ENST00000407721.2_Silent_p.I145I	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	145			I -> L (in SLOS).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GCAGGCCATTGATCTGATACT	0.552000									Smith-Lemli-Opitz syndrome				17	18					0	0	1	0	0
RRAS	6237	broad.mit.edu	37	19	50139972	50139972	+	Silent	SNP	C	C	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:50139972C>A	ENST00000246792.3	-	4	459	c.357G>T	c.(355-357)gtG>gtT	p.V119V		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	119					axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		AGAGCTTGCCCACCTCGTTGA	0.627000													17	31					5.3912e-06	5.49258e-06	1	1	0
RXRB	6257	broad.mit.edu	37	6	33162525	33162525	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:33162525G>A	ENST00000374680.3	-	10	1747	c.1536C>T	c.(1534-1536)ctC>ctT	p.L512L	RXRB_ENST00000544186.1_Silent_p.L326L|RXRB_ENST00000374685.4_Silent_p.L516L	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	512	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGTCACCAATGAGCTTGAAGA	0.557000													16	13					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100364685	100364685	+	RNA	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:100364685C>T	ENST00000542585.1	+	0	4813				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.G1555G(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCTTCGATGGCGCCTTGCACC	0.602000													15	39					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47821562	47821562	+	Nonsense_Mutation	SNP	C	C	A	rs147564798		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr21:47821562C>A	ENST00000359568.5	+	26	4996	c.4889C>A	c.(4888-4890)tCg>tAg	p.S1630*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1630					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAGCCTCCTTCGGGCAGCCCT	0.557000													56	50					4.6707e-30	4.92697e-30	1	1	0
PLEKHA6	22874	broad.mit.edu	37	1	204228552	204228552	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:204228552C>G	ENST00000272203.3	-	8	1157	c.841G>C	c.(841-843)Ggg>Cgg	p.G281R	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.G301R	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	281	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCTGTGCTCCCTGGCCGGCTT	0.657000													25	51					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96943981	96943981	+	Silent	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:96943981C>G	ENST00000323853.5	-	39	5681	c.5604G>C	c.(5602-5604)ctG>ctC	p.L1868L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1868	SEC63 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCACCTGCCTCAGGAGATTGT	0.552000													29	57					0	0	1	0	0
SERPIND1	3053	broad.mit.edu	37	22	21134339	21134339	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr22:21134339G>A	ENST00000215727.5	+	2	1022	c.739G>A	c.(739-741)Gag>Aag	p.E247K	SERPIND1_ENST00000406799.1_Missense_Mutation_p.E247K|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	247					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	TTACTTTGCTGAGGCCCAGAT	0.433000													66	197					0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128046431	128046431	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:128046431C>T	ENST00000493187.2	-	7	1103	c.640G>A	c.(640-642)Gag>Aag	p.E214K	ERCC3_ENST00000285398.2_Missense_Mutation_p.E278K			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	278					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGGAGTTCCTCAATCATTTCC	0.413000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				70	117					0	0	1	0	0
CREB3L4	148327	broad.mit.edu	37	1	153941855	153941855	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:153941855G>T	ENST00000368607.3	+	4	733	c.467G>T	c.(466-468)aGt>aTt	p.S156I	CREB3L4_ENST00000368600.3_Missense_Mutation_p.S136I|CREB3L4_ENST00000368603.1_Missense_Mutation_p.S156I|CREB3L4_ENST00000271889.4_Missense_Mutation_p.S156I|CREB3L4_ENST00000405694.3_Missense_Mutation_p.S9I|CREB3L4_ENST00000368601.1_Missense_Mutation_p.S156I	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	156					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGCATGGTCAGTGAGCTGCCC	0.557000													35	45					1.62565e-12	1.68795e-12	1	1	0
GNA13	10672	broad.mit.edu	37	17	63010911	63010911	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:63010911T>C	ENST00000439174.2	-	4	843	c.598A>G	c.(598-600)Aga>Gga	p.R200G	GNA13_ENST00000541118.1_Missense_Mutation_p.R105G	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	200					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GTGGGTCTTCTGGCAAGCAGA	0.353000													26	43					0	0	1	0	0
RASSF2	9770	broad.mit.edu	37	20	4768393	4768393	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:4768393C>T	ENST00000379400.3	-	10	894	c.699G>A	c.(697-699)caG>caA	p.Q233Q	RASSF2_ENST00000478553.1_Intron|RASSF2_ENST00000379376.2_Silent_p.Q233Q	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	233	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						CCTTCAGCTTCTGTTTCTCTG	0.542000													16	21					0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66463931	66463931	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:66463931G>A	ENST00000359626.5	+	3	427	c.263G>A	c.(262-264)gGa>gAa	p.G88E		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	88	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TCTCAGACTGGAACAGCGAAG	0.378000													25	56					0	0	1	0	0
LOC81691	81691	broad.mit.edu	37	16	20837242	20837242	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:20837242G>A	ENST00000261377.6	+	8	1002	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	AC004381.6_ENST00000564274.1_Missense_Mutation_p.E265K|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.E265K	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					GGTCAAACCTGAAAACAAGAT	0.473000													5	13					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87797475	87797475	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:87797475A>T	ENST00000398204.4	+	25	2538	c.2215A>T	c.(2215-2217)Ata>Tta	p.I739L	ADAM22_ENST00000398209.3_Missense_Mutation_p.I739L|ADAM22_ENST00000398201.4_Missense_Mutation_p.I739L|ADAM22_ENST00000265727.7_Missense_Mutation_p.I739L|ADAM22_ENST00000315984.7_Missense_Mutation_p.I739L	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	739					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAATATCATAATAGGCATAAT	0.363000													14	34					0	0	1	0	0
CHPT1	56994	broad.mit.edu	37	12	102107962	102107962	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:102107962C>T	ENST00000549872.1	+	2	558	c.368C>T	c.(367-369)tCt>tTt	p.S123F	CHPT1_ENST00000229266.3_Missense_Mutation_p.S123F|CHPT1_ENST00000550385.1_3'UTR			Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	123					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AGAACAAACTCTTGTTCCCCT	0.378000													37	95					0	0	1	0	0
CDK6	1021	broad.mit.edu	37	7	92462443	92462443	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:92462443C>T	ENST00000265734.4	-	2	606	c.195G>A	c.(193-195)ctG>ctA	p.L65L	CDK6_ENST00000424848.2_Silent_p.L65L	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	65	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CCAGGTGCCTCAGCACCGCCA	0.706000			T	MLLT10	ALL						OREG0018165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	5					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144810877	144810877	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:144810877C>G	ENST00000388913.3	-	5	879	c.754G>C	c.(754-756)Gag>Cag	p.E252Q		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	252					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGGATCTTCTCAAAGGACCAC	0.657000													13	28					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186673435	186673435	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:186673435G>C	ENST00000343098.5	+	17	19669	c.19669G>C	c.(19669-19671)Gat>Cat	p.D6557H	FSIP2_ENST00000424728.1_Missense_Mutation_p.D6468H	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTTTCCATTAGATACAATTAA	0.308000													27	34					0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73923539	73923539	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:73923539C>T	ENST00000586717.1	-	8	703	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	FBF1_ENST00000319129.5_Missense_Mutation_p.E144K|FBF1_ENST00000389570.4_Missense_Mutation_p.E144K			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	144										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						ATGGTACCTTCAGAGGAAAAC	0.577000													3	3					0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81207685	81207685	+	Silent	SNP	G	G	A	rs3733335		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:81207685G>A	ENST00000312465.7	+	3	892	c.666G>A	c.(664-666)tcG>tcA	p.S222S	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	222					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						TCAAGCAGTCGGAGCAGCCAG	0.478000													45	52					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133759700	133759700	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:133759700G>A	ENST00000318560.5	+	11	2404	c.2023G>A	c.(2023-2025)Gag>Aag	p.E675K		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	675					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AGCCCTCCGGGAGTCCGGGGG	0.682000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								20	24					0	0	1	0	0
SCFD2	152579	broad.mit.edu	37	4	53786903	53786903	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:53786903G>T	ENST00000401642.3	-	6	1829	c.1696C>A	c.(1696-1698)Cat>Aat	p.H566N	SCFD2_ENST00000388940.4_Missense_Mutation_p.H566N	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	566					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGGTGGGTATGATTTCCAGGA	0.393000													25	33					1.1804e-14	1.22992e-14	1	1	0
HIST1H1B	3009	broad.mit.edu	37	6	27835260	27835260	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:27835260C>T	ENST00000331442.3	-	1	99	c.48G>A	c.(46-48)gaG>gaA	p.E16E		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	16					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CCGGGGATTTCTCCACCGGCG	0.582000													26	11					0	0	1	0	0
HSPA12B	116835	broad.mit.edu	37	20	3732653	3732653	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:3732653T>A	ENST00000254963.2	+	13	2046	c.1901T>A	c.(1900-1902)cTt>cAt	p.L634H	HSPA12B_ENST00000542646.1_Missense_Mutation_p.L468H	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	634							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						AGCCTCGAGCTTGAGCCCGCC	0.697000													5	7					0	0	1	0	0
FUZ	80199	broad.mit.edu	37	19	50315567	50315567	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:50315567C>T	ENST00000313777.4	-	3	422	c.259G>A	c.(259-261)Gag>Aag	p.E87K	FUZ_ENST00000533418.1_Missense_Mutation_p.E37K|FUZ_ENST00000528094.1_Intron|FUZ_ENST00000526575.1_Intron|FUZ_ENST00000445575.2_Missense_Mutation_p.E87K|FUZ_ENST00000534008.1_5'UTR	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	87					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		ATGCCCACCTCAGATGACAGA	0.522000													6	28					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130066285	130066285	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:130066285G>T	ENST00000278742.5	+	10	1583	c.1165G>T	c.(1165-1167)Gag>Tag	p.E389*		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	389	CUB 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CTACCTGCTGGAGCCCGGCGT	0.637000													4	11					1.23904e-05	1.25377e-05	1	1	0
HIF1A	3091	broad.mit.edu	37	14	62200933	62200933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:62200933C>T	ENST00000394997.1	+	8	1226	c.961C>T	c.(961-963)Caa>Taa	p.Q321*	HIF1A_ENST00000539097.1_Nonsense_Mutation_p.Q344*|HIF1A_ENST00000337138.4_Nonsense_Mutation_p.Q320*|HIF1A_ENST00000557538.1_Nonsense_Mutation_p.Q261*|HIF1A_ENST00000323441.6_Nonsense_Mutation_p.Q320*|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A-AS2_ENST00000554254.1_lincRNA			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	320	Interaction with TSGA10 (By similarity).|PAC.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		GGTTGAAACTCAAGCAACTGT	0.383000													19	5					0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7880494	7880494	+	Missense_Mutation	SNP	C	C	T	rs139361183		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:7880494C>T	ENST00000283147.6	+	7	1619	c.1460C>T	c.(1459-1461)tCg>tTg	p.S487L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	487					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					AATGCCATCTCGGTTCTTTAC	0.448000													56	53					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27751476	27751476	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:27751476G>A	ENST00000261588.4	+	15	1877	c.1858G>A	c.(1858-1860)Gac>Aac	p.D620N		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	620										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CATCCTGGTTGACCAGAAGAA	0.527000													27	66					0	0	1	0	0
PI4K2B	55300	broad.mit.edu	37	4	25253958	25253958	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:25253958C>A	ENST00000264864.6	+	2	473	c.284C>A	c.(283-285)tCa>tAa	p.S95*	PI4K2B_ENST00000512921.1_5'UTR	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	95						cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				ATTGGTACTTCAGAGATGAAT	0.383000													19	37					4.35082e-09	4.47084e-09	1	1	0
HOXB1	3211	broad.mit.edu	37	17	46607197	46607197	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:46607197G>A	ENST00000239174.6	-	2	710	c.618C>T	c.(616-618)ctC>ctT	p.L206L	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	206						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGTTGGTGCGGAGGCCACTGG	0.607000													48	33					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112466047	112466047	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:112466047G>A	ENST00000230538.7	-	19	2839	c.2442C>T	c.(2440-2442)agC>agT	p.S814S	LAMA4_ENST00000424408.2_Silent_p.S807S|LAMA4_ENST00000522006.1_Silent_p.S807S|LAMA4_ENST00000389463.4_Silent_p.S807S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	814	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCCTCTGGATGCTGGCAGAAA	0.488000													30	12					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25464862	25464862	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:25464862C>G	ENST00000376351.3	+	1	872	c.513C>G	c.(511-513)atC>atG	p.I171M	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	171						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGCCCAGCATCTCCCGGGCGG	0.647000													18	36					0	0	1	0	0
GALK1	2584	broad.mit.edu	37	17	73754661	73754661	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:73754661G>C	ENST00000588479.1	-	6	1387	c.813C>G	c.(811-813)agC>agG	p.S271R	GALK1_ENST00000225614.2_Missense_Mutation_p.S271R|GALK1_ENST00000437911.1_Missense_Mutation_p.S301R			P51570	GALK1_HUMAN	galactokinase 1	271					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCCCTCTTTGCTCACCAGGT	0.701000													4	8					0	0	1	0	0
PIGZ	80235	broad.mit.edu	37	3	196675332	196675332	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:196675332G>A	ENST00000412723.1	-	3	582	c.436C>T	c.(436-438)Cac>Tac	p.H146Y	PIGZ_ENST00000443835.1_Intron	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	146					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GGGGCCAGGTGGTACACGGCC	0.667000													13	24					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22805210	22805210	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr18:22805210C>T	ENST00000361524.3	-	4	2820	c.2672G>A	c.(2671-2673)tGt>tAt	p.C891Y	ZNF521_ENST00000538137.2_Missense_Mutation_p.C891Y|ZNF521_ENST00000584787.1_Missense_Mutation_p.C671Y	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	891					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGCTGCCCCACAAATGTCGCA	0.522000			T	PAX5	ALL								41	71					0	0	1	0	0
LRCH3	84859	broad.mit.edu	37	3	197597072	197597072	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:197597072G>A	ENST00000438796.2	+	18	1959	c.1915G>A	c.(1915-1917)Gat>Aat	p.D639N	LRCH3_ENST00000441090.2_Missense_Mutation_p.D485N|LRCH3_ENST00000425562.2_Missense_Mutation_p.D639N|LRCH3_ENST00000536618.1_Missense_Mutation_p.D234N|LRCH3_ENST00000334859.4_Missense_Mutation_p.D639N|LRCH3_ENST00000414675.2_Missense_Mutation_p.D587N			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	639						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		ACCTACCACTGATTCTACAGA	0.403000													47	84					0	0	1	0	0
DR1	1810	broad.mit.edu	37	1	93812391	93812391	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:93812391G>A	ENST00000370272.4	+	1	947	c.189G>A	c.(187-189)aaG>aaA	p.K63K	DR1_ENST00000370267.1_Silent_p.K63K	NM_001938.2	NP_001929.1	Q01658	NC2B_HUMAN	down-regulator of transcription 1, TBP-binding (negative cofactor 2)						histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex	sequence-specific DNA binding|TBP-class protein binding|transcription corepressor activity			endometrium(3)|large_intestine(1)	4		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)		AATCGGAAAAGAAGACCATCT	0.468000													7	14					0	0	1	0	0
LAPTM4A	9741	broad.mit.edu	37	2	20237361	20237361	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:20237361G>C	ENST00000175091.4	-	3	754	c.247C>G	c.(247-249)Ctt>Gtt	p.L83V		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	83					transport	endomembrane system|Golgi apparatus|integral to membrane				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGGCAAAAAGAACACAGGCA	0.289000													13	21					0	0	1	0	0
SLC16A1	6566	broad.mit.edu	37	1	113456585	113456585	+	Silent	SNP	A	A	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:113456585A>C	ENST00000538576.1	-	5	2262	c.1431T>G	c.(1429-1431)gtT>gtG	p.V477V	SLC16A1_ENST00000369626.3_Silent_p.V477V	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	477					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	CTGCTTTGGTAACTTCATTTG	0.458000													55	75					0	0	1	0	0
IMMT	10989	broad.mit.edu	37	2	86374830	86374830	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:86374830C>T	ENST00000410111.3	-	13	1915	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	IMMT_ENST00000442664.2_Missense_Mutation_p.E509K|IMMT_ENST00000449247.2_Missense_Mutation_p.E499K|IMMT_ENST00000254636.5_Missense_Mutation_p.E411K|IMMT_ENST00000409051.2_Missense_Mutation_p.E463K	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	510						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTCACCTGCTCAAATTCAGAC	0.483000													21	29					0	0	1	0	0
RHBDF2	79651	broad.mit.edu	37	17	74474947	74474947	+	Missense_Mutation	SNP	G	G	A	rs138968491		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:74474947G>A	ENST00000591885.1	-	6	1163	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C	RHBDF2_ENST00000389760.4_Missense_Mutation_p.R205C|RHBDF2_ENST00000313080.4_Missense_Mutation_p.R234C			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	234					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CTCTTGCGGCGTGGCAGGTGG	0.687000													17	28					0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75298823	75298823	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:75298823G>A	ENST00000304771.3	-	4	2473	c.1723C>T	c.(1723-1725)Cct>Tct	p.P575S	MAP6_ENST00000526740.1_Missense_Mutation_p.P246S|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	575	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GGGACCATAGGAGCTTGATTC	0.502000													59	100					0	0	1	0	0
LDB1	8861	broad.mit.edu	37	10	103868831	103868831	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:103868831C>T	ENST00000361198.5	-	10	1475	c.852G>A	c.(850-852)aaG>aaA	p.K284K	LDB1_ENST00000425280.1_Silent_p.K320K	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	320					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GGCTCTTCTTCTTGCTGTTGC	0.592000													22	37					0	0	1	0	0
CSK	1445	broad.mit.edu	37	15	75091647	75091647	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:75091647G>A	ENST00000220003.9	+	5	1006	c.277G>A	c.(277-279)Gag>Aag	p.E93K	CSK_ENST00000567571.1_Missense_Mutation_p.E93K|CSK_ENST00000439220.2_Missense_Mutation_p.E93K|CSK_ENST00000309470.9_Missense_Mutation_p.E93K	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	93	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						GGAGCAGGCTGAGCGGCTTCT	0.632000													11	16					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152084109	152084109	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:152084109G>A	ENST00000368804.1	-	2	1583	c.1584C>T	c.(1582-1584)ctC>ctT	p.L528L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	528	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCGCTGCTGGAGCCTCTCTT	0.652000													47	92					0	0	1	0	0
FOS	2353	broad.mit.edu	37	14	75747770	75747770	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:75747770G>T	ENST00000303562.4	+	4	995	c.786G>T	c.(784-786)atG>atT	p.M262I	FOS_ENST00000535987.1_Missense_Mutation_p.M226I|FOS_ENST00000555347.1_Missense_Mutation_p.M114I|FOS_ENST00000555686.1_Missense_Mutation_p.M148I	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	262					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD 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|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		TCAGCAGCATGGAGCTGAAGA	0.597000													37	28					3.62531e-18	3.79733e-18	1	1	0
MYNN	55892	broad.mit.edu	37	3	169496653	169496653	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:169496653G>A	ENST00000349841.5	+	3	1027	c.364G>A	c.(364-366)Gct>Act	p.A122T	MYNN_ENST00000392733.1_Missense_Mutation_p.A122T|MYNN_ENST00000544106.1_Missense_Mutation_p.A122T|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000356716.4_Missense_Mutation_p.A122T	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	122						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TGCTTTTATTGCTAATCCTTC	0.343000													24	56					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77657032	77657032	+	Silent	SNP	C	C	T	rs143136849		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:77657032C>T	ENST00000461745.1	+	21	4120	c.3220C>T	c.(3220-3222)Cta>Tta	p.L1074L	ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000487694.3_Silent_p.L1090L|ROBO2_ENST00000332191.8_Silent_p.L1074L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1074					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.L1074L(1)|p.L1090L(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAATGTCCCTCTACCTCCCCC	0.423000													10	34					0	0	1	0	0
FUNDC2	65991	broad.mit.edu	37	X	154282927	154282927	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chrX:154282927C>A	ENST00000369498.3	+	5	804	c.550C>A	c.(550-552)Ctg>Atg	p.L184M	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	184						mitochondrion		p.L184V(1)		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)					CGGAGGCTTTCTGCTTGGCAT	0.448000													51	25					2.81731e-22	2.9614e-22	1	1	0
RNF168	165918	broad.mit.edu	37	3	196198864	196198864	+	Silent	SNP	T	T	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:196198864T>A	ENST00000318037.3	-	6	2136	c.1542A>T	c.(1540-1542)tcA>tcT	p.S514S		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	514					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TTTTGTCCCTTGAGCCTCTCT	0.423000													87	191					0	0	1	0	0
KPNA4	3840	broad.mit.edu	37	3	160219955	160219955	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:160219955A>C	ENST00000334256.4	-	17	1808	c.1503T>G	c.(1501-1503)atT>atG	p.I501M		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	501					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TTCCGCCTTGAATTGCCTCTG	0.348000													34	45					0	0	1	0	0
IST1	9798	broad.mit.edu	37	16	71961660	71961660	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:71961660G>C	ENST00000378799.6	+	10	1401	c.1045G>C	c.(1045-1047)Gac>Cac	p.D349H	IST1_ENST00000538565.1_3'UTR|IST1_ENST00000541571.2_Missense_Mutation_p.D349H|IST1_ENST00000535424.1_Missense_Mutation_p.D362H|IST1_ENST00000606369.1_Missense_Mutation_p.D201H|IST1_ENST00000544564.1_Missense_Mutation_p.D349H|IST1_ENST00000538850.1_Missense_Mutation_p.D201H|IST1_ENST00000378798.5_Missense_Mutation_p.D318H|IST1_ENST00000329908.8_Missense_Mutation_p.K347N			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	347	Interaction with VPS4A, VTA1, MITD1 STAMBP and USP8.|Interaction with VTA1.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding										AGCATCTGAAGACATTGACTT	0.458000													67	125					0	0	1	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71192177	71192177	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:71192177C>T	ENST00000234396.4	+	14	1541	c.1468C>T	c.(1468-1470)Ccg>Tcg	p.P490S	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.P473S	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	490					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GAAGCGCATTCCGCAGGCCGT	0.662000											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	37					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74277802	74277802	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:74277802A>T	ENST00000295897.4	+	7	892	c.803A>T	c.(802-804)gAa>gTa	p.E268V	ALB_ENST00000415165.2_Missense_Mutation_p.E76V|ALB_ENST00000503124.1_Missense_Mutation_p.E118V|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.E153V|ALB_ENST00000509063.1_Missense_Mutation_p.E268V	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	268	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GTCCACACGGAATGCTGCCAT	0.458000													32	62					0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50036434	50036434	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:50036434C>T	ENST00000261897.1	+	20	2540	c.1989C>T	c.(1987-1989)ttC>ttT	p.F663F	PRPF40B_ENST00000548825.2_Silent_p.F698F|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000380281.1_Silent_p.F676F			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	676					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						TCCGGCTCTTCCGGGAGTTCC	0.567000													16	22					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99532219	99532219	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr13:99532219G>A	ENST00000376460.1	-	27	2956	c.2876C>T	c.(2875-2877)tCa>tTa	p.S959L	DOCK9_ENST00000448493.2_Missense_Mutation_p.S971L|DOCK9_ENST00000339416.2_Missense_Mutation_p.S960L|DOCK9_ENST00000442173.1_Missense_Mutation_p.S959L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	960					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAAAAACCATGAGTACTAAAA	0.363000													15	29					0	0	1	0	0
BLOC1S4	55330	broad.mit.edu	37	4	6718478	6718478	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:6718478C>G	ENST00000320776.3	+	1	637	c.542C>G	c.(541-543)tCg>tGg	p.S181W		NM_018366.2	NP_060836.1			biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino																		AACGTGCCCTCGCTCTTTAGC	0.622000													6	8					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44556401	44556401	+	Silent	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:44556401G>C	ENST00000289547.4	-	17	3556	c.3501C>G	c.(3499-3501)ctC>ctG	p.L1167L	NPC1L1_ENST00000546276.1_Silent_p.L1094L|NPC1L1_ENST00000381160.3_Silent_p.L1140L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1167					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGAGCAGGTTGAGGAGGCCGG	0.612000													3	12					0	0	1	0	0
OSBPL11	114885	broad.mit.edu	37	3	125313607	125313607	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:125313607G>A	ENST00000296220.5	-	1	327	c.38C>T	c.(37-39)tCg>tTg	p.S13L		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	13					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TTCGCTCTCCGAGACTTTCAT	0.562000													15	23					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076110	57076110	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:57076110G>A	ENST00000532437.1	-	5	4386	c.4075C>T	c.(4075-4077)Cca>Tca	p.P1359S	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P1359S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1359	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCTTCACTTGGAGCCCCAAAG	0.652000													48	104					0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67694244	67694244	+	Silent	SNP	A	A	G	rs2303761		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:67694244A>G	ENST00000219251.8	-	1	469	c.138T>C	c.(136-138)cgT>cgC	p.R46R	ACD_ENST00000393919.4_Silent_p.R46R	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	46					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGCCCCGCCCACGTACACCCC	0.736000													6	12					0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116307492	116307492	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:116307492C>T	ENST00000533213.2	-	5	838	c.537G>A	c.(535-537)ctG>ctA	p.L179L	ABLIM1_ENST00000277895.5_Silent_p.L239L|ABLIM1_ENST00000369252.4_Silent_p.L179L			O14639	ABLM1_HUMAN	actin binding LIM protein 1	239	LIM zinc-binding 2.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CCAGCGCCAGCAGCGCCTGCC	0.552000													12	19					0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26533881	26533881	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:26533881G>T	ENST00000333478.6	-	8	2700	c.2118C>A	c.(2116-2118)taC>taA	p.Y706*	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Nonsense_Mutation_p.Y508*|GPR113_ENST00000311519.1_Nonsense_Mutation_p.Y905*|GPR113_ENST00000421160.2_Nonsense_Mutation_p.Y836*	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	905					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGAGGTAGGTAGAGCCCCA	0.607000													12	8					1.08611e-07	1.11415e-07	1	1	0
CLCN3P1	100419056	broad.mit.edu	37	9	15017388	15017388	+	RNA	SNP	G	G	C	rs112344710	by1000genomes	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:15017388G>C	ENST00000609203.1	-	0	764																											AATAGTTGAGGCTGCAAGTGA	0.373000													3	25					0	0	1	0	0
VPS37B	79720	broad.mit.edu	37	12	123353041	123353041	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:123353041C>G	ENST00000267202.2	-	3	733	c.352G>C	c.(352-354)Gag>Cag	p.E118Q		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	118	Interaction with IST1.|VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GTGTCTTCCTCAATCTTGGCC	0.557000													4	14					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33574708	33574708	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:33574708G>A	ENST00000262873.7	+	13	1142	c.1050G>A	c.(1048-1050)atG>atA	p.M350I		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	308	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TTCTGTCTATGAACCCCTATG	0.567000													26	33					0	0	1	0	0
PDGFB	5155	broad.mit.edu	37	22	39636860	39636860	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr22:39636860G>A	ENST00000381551.4	-	1	54	c.18C>T	c.(16-18)ctC>ctT	p.L6L	PDGFB_ENST00000331163.6_Intron	NM_033016.2	NP_148937.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	0					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity	p.L6L(2)	COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	AGGTACTTACGAGGCCCATGA	0.473000			T	COL1A1	DFSP								14	19					0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33110348	33110348	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:33110348C>T	ENST00000307363.5	-	3	504	c.360G>A	c.(358-360)ctG>ctA	p.L120L	GLB1_ENST00000399402.3_Silent_p.L90L|GLB1_ENST00000445488.2_Silent_p.L168L|GLB1_ENST00000307377.8_Intron	NM_000404.2	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1	120					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GCCCGGGCCTCAGGATAACCA	0.562000													45	27					0	0	1	0	0
CYB5B	80777	broad.mit.edu	37	16	69458758	69458758	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:69458758G>A	ENST00000512062.1	+	1	331	c.160G>A	c.(160-162)Gag>Aag	p.E54K	CYB5B_ENST00000561792.1_Missense_Mutation_p.E54K|CYB5B_ENST00000307892.8_Missense_Mutation_p.E58K|CYB5B_ENST00000515314.1_Missense_Mutation_p.E54K			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	54	Cytochrome b5 heme-binding.				electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				CTTCCTCAACGAGGTGGGGCC	0.602000													15	29					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65194231	65194231	+	Splice_Site	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:65194231A>G	ENST00000381210.3	-	3	440	c.330T>C	c.(328-330)tgT>tgC	p.C110C	TECRL_ENST00000507440.1_Splice_Site_p.C110C	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	110					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GCTTCTTACCACATTCTAGCT	0.299000													19	40					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53607432	53607432	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:53607432G>A	ENST00000425354.2	-	8	1353	c.866C>T	c.(865-867)tCc>tTc	p.S289F	RARG_ENST00000543726.1_Missense_Mutation_p.S267F|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Missense_Mutation_p.S217F|RARG_ENST00000394426.1_Missense_Mutation_p.S289F|RARG_ENST00000338561.5_Missense_Mutation_p.S278F	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	289	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CAGCCCGTCGGAGAAGGTCAT	0.622000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	38					0	0	1	0	0
RAB3IL1	5866	broad.mit.edu	37	11	61672126	61672126	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:61672126G>A	ENST00000394836.2	-	7	948	c.791C>T	c.(790-792)tCg>tTg	p.S264L	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.S238L	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	264							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						TACCAGCACCGAGAGCTGTGG	0.692000													3	10					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79063930	79063930	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:79063930G>A	ENST00000388820.4	-	15	2583	c.2373C>T	c.(2371-2373)atC>atT	p.I791I	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	791	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CAGGCACCTGGATCCAGACAG	0.687000													7	4					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42271711	42271711	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr22:42271711C>G	ENST00000361204.4	+	7	1535	c.1369C>G	c.(1369-1371)Cta>Gta	p.L457V		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	457	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGGAAGCCCTCTATTGGATGA	0.502000													36	34					0	0	1	0	0
LOC101929147	101929147	broad.mit.edu	37	1	119683300	119683300	+	RNA	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:119683300G>A	ENST00000440150.1	+	0	253				RP11-418J17.1_ENST00000425884.1_RNA																							TGTTTGGAATGACGTCTGTTC	0.627000													4	4					0	0	1	0	0
MFSD1	64747	broad.mit.edu	37	3	158519993	158519993	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:158519993G>A	ENST00000415822.2	+	1	340	c.199G>A	c.(199-201)Gag>Aag	p.E67K	MFSD1_ENST00000392813.4_Missense_Mutation_p.E67K|MFSD1_ENST00000264266.8_Missense_Mutation_p.E18K	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	18					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CGGCCCTGACGAGGCCGACAG	0.682000													4	12					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144995865	144995865	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:144995865C>G	ENST00000322810.4	-	32	8704	c.8535G>C	c.(8533-8535)gaG>gaC	p.E2845D	PLEC_ENST00000398774.2_Missense_Mutation_p.E2676D|PLEC_ENST00000345136.3_Missense_Mutation_p.E2708D|PLEC_ENST00000527096.1_Missense_Mutation_p.E2731D|PLEC_ENST00000357649.2_Missense_Mutation_p.E2712D|PLEC_ENST00000354958.2_Missense_Mutation_p.E2686D|PLEC_ENST00000354589.3_Missense_Mutation_p.E2708D|PLEC_ENST00000356346.3_Missense_Mutation_p.E2694D|PLEC_ENST00000436759.2_Missense_Mutation_p.E2735D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2845	Globular 2.				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						CACTCAGCTTCTCATTGGTGG	0.672000													20	39					0	0	1	0	0
DIXDC1	85458	broad.mit.edu	37	11	111853158	111853158	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:111853158G>A	ENST00000440460.2	+	8	1159	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	DIXDC1_ENST00000315253.5_Missense_Mutation_p.E77K|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	289	Actin-binding.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		GGAACAACAAGAATATTTAGA	0.423000											OREG0021331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	13					0	0	1	0	0
SPHK2	56848	broad.mit.edu	37	19	49132163	49132163	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:49132163C>T	ENST00000443164.1	+	5	1989	c.1284C>T	c.(1282-1284)ctC>ctT	p.L428L	SPHK2_ENST00000598088.1_Silent_p.L366L|SPHK2_ENST00000599748.1_Silent_p.L330L|SPHK2_ENST00000600537.1_Silent_p.L307L|SPHK2_ENST00000245222.4_Silent_p.L366L|SPHK2_ENST00000599029.1_Silent_p.L330L|SPHK2_ENST00000340932.3_Silent_p.L328L			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	366					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TGCTGGGCCTCGCCACACTGC	0.667000													32	43					0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120725491	120725491	+	Silent	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:120725491T>C	ENST00000263708.2	+	26	3408	c.2637T>C	c.(2635-2637)taT>taC	p.Y879Y	PTPN4_ENST00000544261.1_Silent_p.Y512Y	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	879	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AGCCAGTTTATCCACTAGATA	0.373000													32	78					0	0	1	0	0
DDI2	84301	broad.mit.edu	37	1	15959933	15959933	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:15959933G>C	ENST00000480945.1	+	4	676		c.e4-1			NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)						proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TATTTTTGTAGAGAAATTTTC	0.393000													78	149					0	0	1	0	0
TLX1	3195	broad.mit.edu	37	10	102894051	102894051	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:102894051G>A	ENST00000370196.6	+	2	2730	c.688G>A	c.(688-690)Gag>Aag	p.E230K	TLX1_ENST00000467928.2_Missense_Mutation_p.E230K			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	230						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GGCCTCGGCCGAGCGCGCCGC	0.652000			T	"""TRB@, TRD@"""	T-ALL								10	9					0	0	1	0	0
WDR3	10885	broad.mit.edu	37	1	118502031	118502031	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:118502031G>C	ENST00000349139.5	+	27	2840	c.2793G>C	c.(2791-2793)aaG>aaC	p.K931N	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		agaagaggaagaggaaaaaga	0.368000													14	39					0	0	1	0	0
SNCB	6620	broad.mit.edu	37	5	176053750	176053750	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:176053750C>T	ENST00000310112.3	-	4	384	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	SNCB_ENST00000393693.2_Missense_Mutation_p.R45Q|SNCB_ENST00000510387.1_Missense_Mutation_p.R45Q|SNCB_ENST00000506696.1_Missense_Mutation_p.R45Q	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	45	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).						calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACACCTTCTCGGGTCTTGCT	0.572000													31	22					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64453240	64453240	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:64453240G>A	ENST00000358025.3	+	19	2448	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	SYNE2_ENST00000554584.1_Missense_Mutation_p.E740K|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.E740K	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	740					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAAAGATGTTGAAAAACTCAT	0.388000													14	24					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179422195	179422195	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:179422195C>G	ENST00000589042.1	-	329	88018	c.87794G>C	c.(87793-87795)gGa>gCa	p.G29265A	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G26697A|TTN_ENST00000591111.1_Missense_Mutation_p.G27624A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20325A|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G20200A|TTN_ENST00000342175.6_Missense_Mutation_p.G20392A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27624	Fibronectin type-III 113.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCACTGCCTCCATTTGACAC	0.458000													24	66					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18874745	18874745	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:18874745G>A	ENST00000388995.6	-	6	2622	c.2399C>T	c.(2398-2400)aCg>aTg	p.T800M	SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.T800M|FAM83G_ENST00000345041.4_Missense_Mutation_p.T800M|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395642.1_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	800										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GCTACCGCCCGTCCTGGCCTT	0.637000													42	34					0	0	1	0	0
PPP1CB	5500	broad.mit.edu	37	2	29004678	29004678	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:29004678G>C	ENST00000395366.2	+	4	762	c.490G>C	c.(490-492)Gtg>Ctg	p.V164L	PPP1CB_ENST00000296122.6_Missense_Mutation_p.V164L|PPP1CB_ENST00000358506.2_Missense_Mutation_p.V164L	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	164					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					AGCAGCCATTGTGGATGAGAA	0.313000													11	38					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131760444	131760444	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:131760444C>T	ENST00000368648.3	-	4	474	c.402G>A	c.(400-402)atG>atA	p.M134I	EBF3_ENST00000355311.5_Missense_Mutation_p.M134I	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	134					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCTGTTTGGTCATTGAATCTA	0.488000													16	35					0	0	1	0	0
CRYZL1	9946	broad.mit.edu	37	21	34962153	34962153	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr21:34962153C>G	ENST00000290244.5	-	12	1223	c.980G>C	c.(979-981)aGa>aCa	p.R327T	CRYZL1_ENST00000381554.3_Missense_Mutation_p.R342T|CRYZL1_ENST00000445393.1_Missense_Mutation_p.E180Q|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000480893.1_5'UTR|CRYZL1_ENST00000381540.3_3'UTR			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	342					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						TTGCTTTTTTCTTCCTTGATT	0.353000													24	12					0	0	1	0	0
ZNF182	7569	broad.mit.edu	37	X	47842407	47842407	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chrX:47842407G>A	ENST00000396965.1	-	6	581	c.231C>T	c.(229-231)ctC>ctT	p.L77L	ZNF182_ENST00000376943.3_Silent_p.L58L|ZNF182_ENST00000305127.6_Silent_p.L77L	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	77	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CCTCCAACTTGAGGATGAGGT	0.463000													26	4					0	0	1	0	0
CIB1	10519	broad.mit.edu	37	15	90774617	90774617	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:90774617G>A	ENST00000328649.6	-	4	479	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	106	EF-hand 1.		I -> T (in dbSNP:rs11551250).		apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AATGGGACTTGATGTCTGGCG	0.572000													14	12					0	0	1	0	0
IMPAD1	54928	broad.mit.edu	37	8	57905976	57905976	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:57905976C>T	ENST00000262644.4	-	1	427	c.169G>A	c.(169-171)Gat>Aat	p.D57N		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	57						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GTGCCCCCATcggccgcggcc	0.746000													6	8					0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14042169	14042169	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:14042169G>C	ENST00000311895.7	+	11	2725	c.2716G>C	c.(2716-2718)Gca>Cca	p.A906P		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	906	Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CACCTCTTTTGCAGAAGTCGT	0.448000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				35	58					0	0	1	0	0
TGS1	96764	broad.mit.edu	37	8	56699306	56699306	+	Missense_Mutation	SNP	C	C	A	rs146870824	byFrequency	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:56699306C>A	ENST00000260129.5	+	4	1326	c.849C>A	c.(847-849)aaC>aaA	p.N283K		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	283					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			ATGACAAGAACGATGAAAAAT	0.368000													50	95					1.86633e-21	1.95834e-21	1	1	0
LRIT2	340745	broad.mit.edu	37	10	85984111	85984111	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:85984111C>T	ENST00000372113.4	-	2	875	c.870G>A	c.(868-870)ctG>ctA	p.L290L	LRIT2_ENST00000538192.1_Silent_p.L290L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	290	Ig-like.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TCCACATACTCAGGGGATAAG	0.527000													24	21					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627428	43627428	+	Missense_Mutation	SNP	G	G	A	rs11261835	by1000genomes	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:43627428G>A	ENST00000332857.6	-	4	1287	c.1259C>T	c.(1258-1260)cCc>cTc	p.P420L		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.P420L(1)									GTGCAGAGAGGGGAGGCCCCA	0.498000													8	162					0	0	1	0	0
RFWD3	55159	broad.mit.edu	37	16	74685896	74685896	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:74685896C>T	ENST00000361070.4	-	3	740	c.643G>A	c.(643-645)Gat>Aat	p.D215N	RFWD3_ENST00000571750.1_Missense_Mutation_p.D215N	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	215					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CTGTCAGAATCAGAACTACTA	0.478000													34	61					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5440230	5440230	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:5440230C>A	ENST00000345221.3	-	8	3455	c.2901G>T	c.(2899-2901)atG>atT	p.M967I	NLRP1_ENST00000269280.4_Missense_Mutation_p.M967I|NLRP1_ENST00000354411.3_Intron|NLRP1_ENST00000577119.1_Intron|NLRP1_ENST00000572272.1_Missense_Mutation_p.M967I|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.M967I	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	967					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GTTCCTGCCTCATCTCATCAC	0.622000													12	12					5.50884e-06	5.5933e-06	1	1	0
TSIX	9383	broad.mit.edu	37	X	73044223	73044223	+	RNA	SNP	T	T	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chrX:73044223T>A	ENST00000604411.1	+	0	32184				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AATCAACAGttacatttatat	0.299000													7	1					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	29					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179478451	179478451	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:179478451C>G	ENST00000367618.3	+	21	2796	c.2409C>G	c.(2407-2409)atC>atG	p.I803M		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	803										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATGAATGGATCAACACATGCT	0.348000													14	30					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33989000	33989000	+	Silent	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:33989000A>G	ENST00000373381.4	-	67	10592	c.10416T>C	c.(10414-10416)gaT>gaC	p.D3472D		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3328						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGAGATGAAAATCTTCTTTCT	0.383000													6	3					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2812478	2812478	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:2812478G>A	ENST00000301740.8	+	11	2498	c.1949G>A	c.(1948-1950)aGa>aAa	p.R650K		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	650	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCACGCTCTAGAACCCCAGCT	0.612000													34	51					0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43913146	43913146	+	Missense_Mutation	SNP	C	C	T	rs145742147	byFrequency	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr21:43913146C>T	ENST00000291536.3	-	2	265	c.98G>A	c.(97-99)cGt>cAt	p.R33H	RSPH1_ENST00000398352.3_Intron	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	33					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TGCCCTCCCACGTCCGTGCCT	0.522000													137	58					0	0	1	0	0
SLC25A41	284427	broad.mit.edu	37	19	6427193	6427193	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:6427193C>T	ENST00000321510.6	-	6	929	c.861G>A	c.(859-861)tcG>tcA	p.S287S		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	287					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						GCGTCACAGACGACAGACTGA	0.627000													3	5					0	0	1	0	0
KRTCAP2	200185	broad.mit.edu	37	1	155145044	155145044	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:155145044C>T	ENST00000295682.4	-	3	328	c.298G>A	c.(298-300)Gag>Aag	p.E100K	KRTCAP2_ENST00000490672.1_5'UTR|RP11-201K10.3_ENST00000473363.2_Silent_p.L177L	NM_173852.3	NP_776251.1	Q8N6L1	KTAP2_HUMAN	keratinocyte associated protein 2	100						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.18e-10)|all cancers(21;8.39e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CACTTACTCTCAGGGAAGATC	0.418000													18	41					0	0	1	0	0
GABRR3	200959	broad.mit.edu	37	3	97726706	97726706	+	RNA	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:97726706C>T	ENST00000472788.1	-	0	657					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						GGACTTGTTTCCGTGTTTCCA	0.373000													6	13					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316005	30316005	+	Silent	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:30316005A>G	ENST00000375377.1	-	3	3173	c.3072T>C	c.(3070-3072)agT>agC	p.S1024S		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1024										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCTCTCCACCACTGTCAAACT	0.582000													54	80					0	0	1	0	0
GNL1	2794	broad.mit.edu	37	6	30523426	30523426	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:30523426C>T	ENST00000376621.3	-	2	1115	c.145G>A	c.(145-147)Gac>Aac	p.D49N		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	49					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TCCGAGGTGTCGGTCTGTTCC	0.662000													19	17					0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67291253	67291253	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:67291253G>C	ENST00000299798.11	+	8	1406	c.1341G>C	c.(1339-1341)ttG>ttC	p.L447F		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	447					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CATAGGGCTTGACCATCAAGC	0.542000													16	54					0	0	1	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70736618	70736618	+	Silent	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:70736618T>C	ENST00000370944.4	-	12	1729	c.1416A>G	c.(1414-1416)gtA>gtG	p.V472V	ANKRD13C_ENST00000262346.6_Silent_p.V437V|ANKRD13C_ENST00000464236.1_5'UTR	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	472					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AGGGAGCTACTACTTCTAAAA	0.323000													11	23					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37864656	37864656	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:37864656G>A	ENST00000406381.2	+	5	728	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	ERBB2_ENST00000540042.1_Missense_Mutation_p.R73Q|ERBB2_ENST00000578199.1_Missense_Mutation_p.R73Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.R73Q|ERBB2_ENST00000584450.1_Missense_Mutation_p.R103Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.R88Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.R73Q|ERBB2_ENST00000269571.5_Missense_Mutation_p.R103Q|ERBB2_ENST00000445658.2_Intron	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	103					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CGGATTGTGCGAGGCACCCAG	0.612000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			28	27					0	0	1	0	0
RND1	27289	broad.mit.edu	37	12	49255809	49255809	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:49255809C>T	ENST00000309739.5	-	3	431	c.301G>A	c.(301-303)Gac>Aac	p.D101N		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	101					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						AGTGCGCTGTCCACTGTCTCT	0.478000													24	28					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29639199	29639199	+	Silent	SNP	T	T	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:29639199T>G	ENST00000318184.5	-	8	974	c.975A>C	c.(973-975)ggA>ggC	p.G325G	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	325	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CTCTCTGGCTTCCATTCACTT	0.443000													21	31					0	0	1	0	0
AMACR	23600	broad.mit.edu	37	5	33997532	33997532	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:33997532C>G	ENST00000382068.3	-	4	678	c.670G>C	c.(670-672)Gtt>Ctt	p.V224L	AMACR_ENST00000426255.2_Silent_p.S277S|AMACR_ENST00000441713.2_Intron|AMACR_ENST00000382072.2_Intron|AMACR_ENST00000512079.1_Intron|AMACR_ENST00000514195.1_Intron|AMACR_ENST00000382085.3_Intron|AMACR_ENST00000335606.6_Intron|RP11-1084J3.4_ENST00000382079.3_Intron|AMACR_ENST00000502637.1_Intron			Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase						bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						TGGGCTGCAACGATGGCCATT	0.483000											OREG0016555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	67					0	0	1	0	0
IGHV1-2	28474	broad.mit.edu	37	14	106452858	106452858	+	RNA	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:106452858C>T	ENST00000390594.2	-	0	227																											CTGTCGCACCCAGTGCATATA	0.572000													53	49					0	0	1	0	0
SNX22	79856	broad.mit.edu	37	15	64445876	64445876	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:64445876G>A	ENST00000325881.4	+	5	444	c.385G>A	c.(385-387)Gac>Aac	p.D129N		NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22	129					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			large_intestine(3)|lung(1)|urinary_tract(2)	6						CCTGCCTGGCGACAGCAGGCA	0.647000											OREG0023180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	16					0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210334350	210334350	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:210334350A>T	ENST00000537238.1	+	9	1908	c.1517A>T	c.(1516-1518)cAg>cTg	p.Q506L	SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367019.1_Missense_Mutation_p.Q563L|SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000367015.1_Missense_Mutation_p.Q506L|SYT14_ENST00000472886.1_Missense_Mutation_p.Q544L|SYT14_ENST00000534859.1_Missense_Mutation_p.Q570L|SYT14_ENST00000422431.1_Missense_Mutation_p.Q608L	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	544	C2 2.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TCAAAAGGACAGCAAGTATGT	0.388000													35	62					0	0	1	0	0
LINC01566	283914	broad.mit.edu	37	16	34624141	34624141	+	RNA	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:34624141C>T	ENST00000569242.1	+	0	1987					NR_027079.1																						CCGTGGCTCGCAGCCATCACA	0.438000													9	18					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144874026	144874026	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:144874026G>A	ENST00000369359.4	-	34	5377	c.5339C>T	c.(5338-5340)tCc>tTc	p.S1780F	PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1644F|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1644F|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1600F			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1644					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGATGGATGGAATCTATAAA	0.458000			T	PDGFRB	MPD								58	267					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113147110	113147110	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:113147110C>T	ENST00000302558.3	-	20	3603	c.3412G>A	c.(3412-3414)Gat>Aat	p.D1138N	RGPD8_ENST00000409750.1_Missense_Mutation_p.D998N	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8											endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GCATCACCATCAGAGAAATCA	0.448000													69	315					0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98660209	98660209	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:98660209C>T	ENST00000288985.7	+	3	888	c.583C>T	c.(583-585)Cta>Tta	p.L195L	ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	195	Helicase ATP-binding.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										AGAGTTTTTACTAAGAAGTAT	0.338000													31	62					0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	117944919	117944919	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:117944919G>A	ENST00000356554.3	+	2	1149	c.414G>A	c.(412-414)caG>caA	p.Q138Q	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	138					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		CAGAAATTCAGACAGAGAAAA	0.403000													26	43					0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78325484	78325484	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:78325484G>A	ENST00000238561.5	+	4	384	c.285G>A	c.(283-285)aaG>aaA	p.K95K	ADCK1_ENST00000341211.5_Intron	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	102						extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CCTTCATCAAGGTGGGCCAGC	0.617000													28	27					0	0	1	0	0
PAXBP1	94104	broad.mit.edu	37	21	34120941	34120941	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr21:34120941T>C	ENST00000331923.4	-	11	1981	c.1792A>G	c.(1792-1794)Att>Gtt	p.I598V	PAXBP1_ENST00000290178.4_Missense_Mutation_p.I598V	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1																		TGTGATTTAATACAGTCAATT	0.358000													50	16					0	0	1	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145726105	145726105	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:145726105G>T	ENST00000292539.4	+	8	1785	c.868G>T	c.(868-870)Gac>Tac	p.D290Y	PPP1R16A_ENST00000435887.1_Missense_Mutation_p.D290Y			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	290						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCACGGGGCCGACCTGAACGC	0.721000													9	8					3.09899e-07	3.17353e-07	1	1	0
PRPF18	8559	broad.mit.edu	37	10	13652044	13652044	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:13652044G>C	ENST00000378572.3	+	5	529	c.369G>C	c.(367-369)ttG>ttC	p.L123F		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	123					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						CTTAGGGATTGAGGAATGATT	0.383000													23	62					0	0	1	0	0
C11orf65	160140	broad.mit.edu	37	11	108277655	108277655	+	Silent	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:108277655A>G	ENST00000525729.1	-	3	186	c.117T>C	c.(115-117)ttT>ttC	p.F39F	C11orf65_ENST00000393084.1_Silent_p.F88F|C11orf65_ENST00000529391.1_Silent_p.F88F			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	88										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		GTCTGTGAGTAAAAATCTTAT	0.313000													25	32					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215259819	215259819	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:215259819C>T	ENST00000444842.2	+	2	305	c.155C>T	c.(154-156)aCg>aTg	p.T52M	KCNK2_ENST00000391894.2_Missense_Mutation_p.T37M|KCNK2_ENST00000391895.2_Missense_Mutation_p.T48M	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	52							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GAGAGTGACACGACCATTAAT	0.512000													15	32					0	0	1	0	0
TRIM50	135892	broad.mit.edu	37	7	72738632	72738632	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:72738632G>A	ENST00000333149.2	-	2	354	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C	TRIM50_ENST00000493498.1_5'UTR|TRIM50_ENST00000453152.1_Missense_Mutation_p.R52C	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	52						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						ACGGGGCAGCGCAGCTCGGCA	0.677000											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	44					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30881858	30881858	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:30881858C>T	ENST00000251071.5	-	8	2256	c.1506G>A	c.(1504-1506)caG>caA	p.Q502Q	CAPRIN2_ENST00000417045.1_Silent_p.Q502Q|CAPRIN2_ENST00000298892.5_Silent_p.Q502Q|CAPRIN2_ENST00000395805.2_Silent_p.Q502Q|CAPRIN2_ENST00000308433.5_Silent_p.Q169Q|CAPRIN2_ENST00000538387.1_5'UTR	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	502					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTTGTTCTTTCTGCAGCTGAA	0.473000													55	75					0	0	1	0	0
STAC2	342667	broad.mit.edu	37	17	37381683	37381683	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:37381683C>T	ENST00000333461.5	-	1	442	c.73G>A	c.(73-75)Gcc>Acc	p.A25T		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	25					intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						TCCTGGAGGGCGGAGACGGTC	0.716000													11	10					0	0	1	0	0
NPIPB6	728741	broad.mit.edu	37	16	28374103	28374103	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:28374103G>C	ENST00000532254.1	-	1	726	c.41C>G	c.(40-42)tCg>tGg	p.S14W		NM_001282524.1	NP_001269453.1			nuclear pore complex interacting protein family, member B6																		CTGGTCATGCGACAGGAACTG	0.483000													3	16					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144995372	144995372	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:144995372C>G	ENST00000322810.4	-	32	9197	c.9028G>C	c.(9028-9030)Gag>Cag	p.E3010Q	PLEC_ENST00000398774.2_Missense_Mutation_p.E2841Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E2873Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E2896Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2877Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E2851Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E2873Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E2859Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E2900Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3010	Globular 2.				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						TCGGGGTCCTCCACGCAGCGC	0.647000													41	76					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19575010	19575010	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:19575010G>T	ENST00000328405.2	+	16	3009	c.2743G>T	c.(2743-2745)Gtg>Ttg	p.V915L		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	915						integral to membrane	two-component sensor activity	p.V915L(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGCACCTCTGTGTGTCCCTC	0.522000													57	22					2.47907e-22	2.61047e-22	1	1	0
SUPT5H	6829	broad.mit.edu	37	19	39936594	39936594	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:39936594G>A	ENST00000599117.1	+	3	431	c.64G>A	c.(64-66)Gag>Aag	p.E22K	SUPT5H_ENST00000598725.1_Missense_Mutation_p.E22K|SUPT5H_ENST00000359191.6_Missense_Mutation_p.E22K|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E22K|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E22K			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	22	Glu-rich.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGTGACGGCGAGGAGGCCGA	0.657000													6	16					0	0	1	0	0
GNS	2799	broad.mit.edu	37	12	65130795	65130795	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:65130795G>C	ENST00000258145.3	-	9	1257	c.1087C>G	c.(1087-1089)Cag>Gag	p.Q363E	GNS_ENST00000418919.2_Missense_Mutation_p.Q307E|GNS_ENST00000543646.1_Missense_Mutation_p.Q395E|GNS_ENST00000542058.1_Missense_Mutation_p.Q343E	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	363						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		TTGCTTGTCTGATTTGGTTTG	0.453000													14	27					0	0	1	0	0
DHX33	56919	broad.mit.edu	37	17	5372147	5372147	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:5372147C>T	ENST00000225296.3	-	1	233	c.33G>A	c.(31-33)aaG>aaA	p.K11K	DHX33_ENST00000433302.3_Silent_p.K11K	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	11						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCCGGAATCTCTTGGCCGGCG	0.721000													2	0					0	0	1	0	0
ZNF622	90441	broad.mit.edu	37	5	16458679	16458679	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:16458679G>A	ENST00000308683.2	-	4	1235	c.1109C>T	c.(1108-1110)tCa>tTa	p.S370L		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	370						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						GTTCTTTTCTGAGGGCAACTC	0.393000													14	48					0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41482260	41482260	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:41482260C>T	ENST00000314992.5	-	9	947	c.757G>A	c.(757-759)Gct>Act	p.A253T	EXD1_ENST00000458580.2_Missense_Mutation_p.A311T	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	253					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						AGGTAGGTAGCTTCCAGGGCC	0.463000													37	12					0	0	1	0	0
INO80E	283899	broad.mit.edu	37	16	30012320	30012320	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:30012320C>T	ENST00000563197.1	+	5	1372	c.355C>T	c.(355-357)Ccc>Tcc	p.P119S	INO80E_ENST00000304516.7_Missense_Mutation_p.P119S|INO80E_ENST00000567705.1_Missense_Mutation_p.P119S|INO80E_ENST00000567254.1_Missense_Mutation_p.P119S	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	119	Pro-rich.				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						AACAGGGTTTCCCCTTCAGGC	0.637000													10	21					0	0	1	0	0
NPBWR1	2831	broad.mit.edu	37	8	53853373	53853373	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:53853373C>T	ENST00000331251.3	+	1	2383	c.906C>T	c.(904-906)ctC>ctT	p.L302L		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	302					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				ACAGCTGCCTCAACCCCTTCC	0.652000													12	35					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79434557	79434557	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:79434557C>T	ENST00000264895.6	+	65	10465	c.10025C>T	c.(10024-10026)tCg>tTg	p.S3342L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3337					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATCCACATTTCGGTGCAGATC	0.433000													46	61					0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8161479	8161479	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:8161479C>T	ENST00000419822.2	-	2	421	c.386G>A	c.(385-387)tGa>tAa	p.*129*	RIC3_ENST00000539720.1_Intron|RIC3_ENST00000425599.2_Intron|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000343202.4_Intron|RIC3_ENST00000309737.6_Intron			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	0						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		ATTAGATTTTCATTGATGTAA	0.279000													14	12					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61431458	61431458	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:61431458C>T	ENST00000398571.2	-	74	9393	c.9317G>A	c.(9316-9318)aGc>aAc	p.S3106N		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3106					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCGAATATTGCTTTTCCCTCC	0.408000													25	42					0	0	1	0	0
TTC31	64427	broad.mit.edu	37	2	74718624	74718624	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:74718624C>T	ENST00000410003.1	+	8	710	c.701C>T	c.(700-702)tCt>tTt	p.S234F	TTC31_ENST00000442235.2_Missense_Mutation_p.S90F|TTC31_ENST00000233623.5_Missense_Mutation_p.S234F|TTC31_ENST00000463189.1_3'UTR			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	234							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CTGGATCTATCTAGCACTTTT	0.542000													88	183					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48096182	48096182	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:48096182C>T	ENST00000264316.4	-	8	706	c.621G>A	c.(619-621)aaG>aaA	p.K207K	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	207	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CTGAGTCATTCTTTTTTATCT	0.403000													22	48					0	0	1	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111643	142111643	+	RNA	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:142111643G>A	ENST00000390378.1	-	0	92																											CTCTCGTTTTGATCAGGTGTG	0.567000													33	66					0	0	1	0	0
HTATSF1	27336	broad.mit.edu	37	X	135579901	135579901	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chrX:135579901G>A	ENST00000535601.1	+	2	480	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	HTATSF1_ENST00000218364.4_Missense_Mutation_p.E20K	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	20					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GCGAATGCAAGAATTGTACGG	0.557000													39	14					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58570623	58570623	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:58570623C>T	ENST00000401053.4	+	1	17	c.14C>T	c.(13-15)tCg>tTg	p.S5L	ZNF135_ENST00000313434.5_5'UTR|ZNF135_ENST00000439855.2_5'UTR|ZNF135_ENST00000359978.6_Missense_Mutation_p.S5L	NM_001164529.1|NM_007134.1	NP_001158001.1|NP_009065.1	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GAGTTAGGCTCGCGCCGGCGC	0.716000													10	5					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583410	82583410	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:82583410C>T	ENST00000333891.9	-	5	7196	c.6859G>A	c.(6859-6861)Gac>Aac	p.D2287N	PCLO_ENST00000423517.2_Missense_Mutation_p.D2287N	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAACAGTGTCAGCAACTGGC	0.393000													43	88					0	0	1	0	0
RAD51C	5889	broad.mit.edu	37	17	56774148	56774148	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:56774148G>A	ENST00000337432.4	+	3	570	c.499G>A	c.(499-501)Gat>Aat	p.D167N	RAD51C_ENST00000583539.1_Missense_Mutation_p.D167N|RAD51C_ENST00000487921.1_3'UTR	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	167					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTTATGGTTGATAGAGTGGT	0.413000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				29	47					0	0	1	0	0
NKX3-2	579	broad.mit.edu	37	4	13543785	13543785	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:13543785C>T	ENST00000382438.5	-	2	1469	c.834G>A	c.(832-834)aaG>aaA	p.K278K		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	278					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CGGCCACCTTCTTGGCGGCGG	0.642000													4	11					0	0	1	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709869	128709869	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:128709869G>A	ENST00000392665.2	-	2	414	c.270C>T	c.(268-270)ctC>ctT	p.L90L	KCNJ1_ENST00000392666.1_Silent_p.L90L|KCNJ1_ENST00000324036.3_Silent_p.L90L|KCNJ1_ENST00000440599.2_Silent_p.L90L|KCNJ1_ENST00000392664.2_Silent_p.L109L	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	109					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	GGAATTCCGGGAGGTCTTTGT	0.448000													42	68					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72186109	72186109	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:72186109C>T	ENST00000356056.5	-	26	5525	c.5053G>A	c.(5053-5055)Gaa>Aaa	p.E1685K	MYO9A_ENST00000424560.1_Missense_Mutation_p.E1685K|MYO9A_ENST00000444904.1_Missense_Mutation_p.E1666K|MYO9A_ENST00000564571.1_Missense_Mutation_p.E1685K|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1685	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTAAGGCTTCTTTGCTGACA	0.378000													11	10					0	0	1	0	0
ABI1	10006	broad.mit.edu	37	10	27048155	27048155	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:27048155G>A	ENST00000355394.4	-	9	1140	c.917C>T	c.(916-918)tCa>tTa	p.S306L	ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376139.2_Missense_Mutation_p.S273L|ABI1_ENST00000376142.2_Missense_Mutation_p.S305L|ABI1_ENST00000376140.3_Missense_Mutation_p.S278L|ABI1_ENST00000376160.1_Missense_Mutation_p.S272L|ABI1_ENST00000359188.4_Missense_Mutation_p.S277L|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000536334.1_Intron|ABI1_ENST00000376170.4_Missense_Mutation_p.S277L|ABI1_ENST00000376134.3_Missense_Mutation_p.S279L|ABI1_ENST00000346832.5_Missense_Mutation_p.S322L|ABI1_ENST00000376138.3_Missense_Mutation_p.S278L|ABI1_ENST00000376166.1_Missense_Mutation_p.S272L			Q8IZP0	ABI1_HUMAN	abl-interactor 1	305	Pro-rich.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACCAGGAGCTGAGCCCGGGGC	0.498000													14	47					0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111951193	111951193	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:111951193G>A	ENST00000377617.3	-	11	2167	c.2006C>T	c.(2005-2007)tCg>tTg	p.S669L	ATXN2_ENST00000535949.1_Missense_Mutation_p.S380L|ATXN2_ENST00000608853.1_Missense_Mutation_p.S509L|ATXN2_ENST00000389153.4_Missense_Mutation_p.S404L|ATXN2_ENST00000542287.2_Missense_Mutation_p.S404L|ATXN2_ENST00000550104.1_Missense_Mutation_p.S669L	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	669	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CGTTCCCCCCGAGGGACTGGT	0.512000													19	32					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169648584	169648584	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:169648584G>A	ENST00000366787.3	-	4	786	c.537C>T	c.(535-537)ttC>ttT	p.F179F		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	179	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGTGCTCGTAGAAGGGCTCGT	0.617000													39	36					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122637962	122637962	+	Missense_Mutation	SNP	C	C	T	rs112914841		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:122637962C>T	ENST00000263461.6	+	12	1900	c.1654C>T	c.(1654-1656)Ctt>Ttt	p.L552F		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	552						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ACTGGTTGATCTTCCAACAGG	0.333000													16	28					0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23400346	23400346	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:23400346G>A	ENST00000307149.5	-	17	2393	c.2208C>T	c.(2206-2208)atC>atT	p.I736I		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	736					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GTAGCGTCACGATGTGCTGGA	0.617000													16	17					0	0	1	0	0
STAC3	246329	broad.mit.edu	37	12	57637672	57637672	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:57637672C>T	ENST00000332782.2	-	12	1219	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	STAC3_ENST00000546246.2_Missense_Mutation_p.E154K|STAC3_ENST00000554578.1_Missense_Mutation_p.E301K	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	340	SH3 2.				intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						CCGCCCGCTTCGTCTCCTTTC	0.562000											OREG0021942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	16					0	0	1	0	0
PHTF1	10745	broad.mit.edu	37	1	114246790	114246790	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:114246790C>T	ENST00000369604.1	-	15	2287		c.e15-1		PHTF1_ENST00000369596.2_Splice_Site|PHTF1_ENST00000474926.1_Splice_Site|PHTF1_ENST00000393357.2_Splice_Site|PHTF1_ENST00000357783.2_Splice_Site|PHTF1_ENST00000369600.1_Splice_Site|PHTF1_ENST00000369598.1_Splice_Site			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCCCGTCTCTGTGGAGTGA	0.428000													11	22					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43912159	43912159	+	Missense_Mutation	SNP	G	G	C	rs147754108	by1000genomes	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:43912159G>C	ENST00000339069.5	+	13	1469	c.838G>C	c.(838-840)Gag>Cag	p.E280Q	CRHR1_ENST00000314537.5_3'UTR|CRHR1_ENST00000398285.3_3'UTR			P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	0					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		AGCCCCCAAAGAGCTGTGGCT	0.632000													5	11					0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76107307	76107307	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:76107307G>A	ENST00000238667.4	+	7	1601	c.1245G>A	c.(1243-1245)atG>atA	p.M415I	FLVCR2_ENST00000555027.1_Missense_Mutation_p.M130I|FLVCR2_ENST00000539311.1_Missense_Mutation_p.M210I|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000556241.1_Intron	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	415					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GCTTCTTTATGACTGGCTATC	0.522000													14	20					0	0	1	0	0
ZNF557	79230	broad.mit.edu	37	19	7075710	7075710	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:7075710G>A	ENST00000414706.1	+	4	549	c.76G>A	c.(76-78)Gag>Aag	p.E26K	ZNF557_ENST00000252840.6_Missense_Mutation_p.E26K|ZNF557_ENST00000439035.2_Missense_Mutation_p.E19K	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		AGGACACACAGAGGGCGGAGA	0.522000													30	16					0	0	1	0	0
TERF2	7014	broad.mit.edu	37	16	69419340	69419340	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:69419340C>T	ENST00000254942.3	-	2	445	c.429G>A	c.(427-429)ctG>ctA	p.L143L	TERF2_ENST00000603068.1_Silent_p.L101L|TERF2_ENST00000569611.2_5'UTR|TERF2_ENST00000567296.2_Silent_p.L143L	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	101	TRFH dimerization.				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				GCATAACCCGCAGCAATCGGG	0.532000													20	42					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69687308	69687308	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:69687308C>T	ENST00000349945.1	+	6	2252	c.700C>T	c.(700-702)Cag>Tag	p.Q234*	NFAT5_ENST00000393742.2_Nonsense_Mutation_p.Q234*|NFAT5_ENST00000567239.1_Nonsense_Mutation_p.Q328*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.Q234*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.Q328*|NFAT5_ENST00000354436.2_Nonsense_Mutation_p.Q310*	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	310					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGATAGAACACAGCAAGGCTT	0.398000													14	37					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247024465	247024465	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:247024465C>T	ENST00000366508.1	-	29	4109	c.3973G>A	c.(3973-3975)Gaa>Aaa	p.E1325K	AHCTF1_ENST00000391829.2_Missense_Mutation_p.E1290K|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E1299K|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1290	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCATCCATTTCTTGATGCTCC	0.423000													15	30					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129826498	129826498	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:129826498C>T	ENST00000421865.2	+	61	8750	c.8701C>T	c.(8701-8703)Cca>Tca	p.P2901S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2901	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAGAATTGGTCCAGTAAATAT	0.383000													28	10					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89386642	89386642	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:89386642G>A	ENST00000439576.2	+	6	1188	c.814G>A	c.(814-816)Gag>Aag	p.E272K	ACAN_ENST00000561243.1_Missense_Mutation_p.E272K|ACAN_ENST00000559004.1_Missense_Mutation_p.E272K|ACAN_ENST00000558207.1_Missense_Mutation_p.E272K|ACAN_ENST00000352105.7_Missense_Mutation_p.E272K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	272					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGCAGCCAATGAGTGCCGGCG	0.642000													12	11					0	0	1	0	0
INCA1	388324	broad.mit.edu	37	17	4892128	4892128	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:4892128C>G	ENST00000396829.2	-	8	1073	c.507G>C	c.(505-507)gaG>gaC	p.E169D	INCA1_ENST00000575780.1_Missense_Mutation_p.E154D|INCA1_ENST00000574617.1_Missense_Mutation_p.E169D|INCA1_ENST00000576820.1_Missense_Mutation_p.E169D|INCA1_ENST00000355025.3_Missense_Mutation_p.E154D	NM_001167986.1	NP_001161458.1	Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein 1	169						nucleus				upper_aerodigestive_tract(1)	1						AGGTTGCTCTCTCCTCTTCCA	0.582000													19	10					0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72846043	72846043	+	Silent	SNP	G	G	A	rs147077649	byFrequency	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:72846043G>A	ENST00000293190.5	-	7	1667	c.1521C>T	c.(1519-1521)atC>atT	p.I507I	GRIN2C_ENST00000347612.4_Silent_p.I507I	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	507					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	TGAGGGAGCCGATGGCCATGT	0.607000													30	50					0	0	1	0	0
TUT1	64852	broad.mit.edu	37	11	62342673	62342673	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:62342673C>T	ENST00000476907.1	-	9	3209	c.2518G>A	c.(2518-2520)Gac>Aac	p.D840N	MIR3654_ENST00000496634.2_Intron|TUT1_ENST00000308436.7_Missense_Mutation_p.D878N			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	840					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGCATTCGGTCAGCCGGGGAG	0.567000													28	46					0	0	1	0	0
TTC33	23548	broad.mit.edu	37	5	40716332	40716332	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:40716332G>A	ENST00000337702.4	-	5	856	c.704C>T	c.(703-705)tCt>tTt	p.S235F	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	235							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CCCAGAAGCAGACACAATAAC	0.428000													24	42					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668818	53668818	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:53668818G>A	ENST00000600412.1	-	2	845	c.730C>T	c.(730-732)Cga>Tga	p.R244*	ZNF665_ENST00000396424.3_Nonsense_Mutation_p.R309*			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGAATTCTTCGATGACTTGCA	0.428000													59	136					0	0	1	0	0
KLF6	1316	broad.mit.edu	37	10	3824148	3824148	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:3824148G>A	ENST00000497571.1	-	2	621	c.361C>T	c.(361-363)Ccc>Tcc	p.P121S	KLF6_ENST00000542957.1_Missense_Mutation_p.P121S|KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000469435.1_Missense_Mutation_p.P121S	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	121					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		TTGGCCGTGGGAGAAAGTTCC	0.532000											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	93					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394514	233394514	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:233394514C>T	ENST00000258229.9	-	5	1328	c.1094G>A	c.(1093-1095)gGa>gAa	p.G365E	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CAGTGGGTCTCCGGGTTGAGA	0.517000													30	65					0	0	1	0	0
DTWD2	285605	broad.mit.edu	37	5	118274974	118274974	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:118274974C>T	ENST00000304058.4	-	3	193	c.123G>A	c.(121-123)gtG>gtA	p.V41V	DTWD2_ENST00000510708.1_Silent_p.V107V|DTWD2_ENST00000515439.3_Intron			Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	107										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		CTGTACGCAACACTTTGTTTT	0.333000													11	4					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8722214	8722214	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:8722214G>C	ENST00000378641.3	+	23	2992	c.2517G>C	c.(2515-2517)aaG>aaC	p.K839N	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.K839N|PLCB1_ENST00000378637.2_Missense_Mutation_p.K839N	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	839					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAGAAGTAAAGAAAGAGGTGA	0.398000													5	20					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68238913	68238913	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:68238913G>A	ENST00000347230.4	-	28	5473	c.5335C>T	c.(5335-5337)Cat>Tat	p.H1779Y	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.H1779Y	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1779					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTAGGGGAATGTATACTGGAG	0.498000													8	3					0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100019151	100019151	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:100019151T>C	ENST00000258428.3	-	21	3725	c.3497A>G	c.(3496-3498)aAt>aGt	p.N1166S	REV1_ENST00000393445.3_Missense_Mutation_p.N1165S	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1166	Protein interaction domain; mediates interaction with DNA polymerase zeta.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTCACATCATTGAATTCAAC	0.488000								Direct reversal of damage					28	47					0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140069557	140069557	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:140069557G>A	ENST00000323927.2	-	13	2310	c.2306C>T	c.(2305-2307)tCa>tTa	p.S769L	ANAPC2_ENST00000487917.1_5'UTR	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	769					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		ACGATCCAGTGAGAGGCTCTC	0.622000													3	11					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467275	10467275	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:10467275C>T	ENST00000382483.3	-	4	4556	c.4333G>A	c.(4333-4335)Gag>Aag	p.E1445K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1445					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCTGTGCCCTCTGCGGGGCAC	0.632000													99	126					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144917918	144917918	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:144917918G>A	ENST00000529945.1	-	7	2296	c.1857C>T	c.(1855-1857)ctC>ctT	p.L619L	PDE4DIP_ENST00000530740.1_Silent_p.L593L|PDE4DIP_ENST00000313431.9_Silent_p.L619L|PDE4DIP_ENST00000369354.3_Silent_p.L456L|PDE4DIP_ENST00000369351.3_Silent_p.L456L|PDE4DIP_ENST00000369349.3_Silent_p.L456L|PDE4DIP_ENST00000369359.4_Silent_p.L593L|PDE4DIP_ENST00000369356.4_Silent_p.L456L|PDE4DIP_ENST00000313382.9_Silent_p.L522L|PDE4DIP_ENST00000479408.2_Silent_p.L243L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	456					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GATACTGTAGGAGCTCCCGAA	0.348000			T	PDGFRB	MPD								51	254					0	0	1	0	0
TUFM	7284	broad.mit.edu	37	16	28857543	28857543	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:28857543G>A	ENST00000313511.3	-	1	186	c.48C>T	c.(46-48)ttC>ttT	p.F16F		NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	13						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						ACTCACCGCTGAAGTGGGGCG	0.687000													3	6					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28858777	28858777	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:28858777C>T	ENST00000357727.2	+	11	1798	c.1408C>T	c.(1408-1410)Cag>Tag	p.Q470*	CREB5_ENST00000396300.2_Nonsense_Mutation_p.Q463*|CREB5_ENST00000396299.2_Nonsense_Mutation_p.Q437*|CREB5_ENST00000409603.1_Nonsense_Mutation_p.Q437*|CREB5_ENST00000396298.2_Nonsense_Mutation_p.Q331*	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	470					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AGCTTGCTCCCAGCAACAAGT	0.502000													46	81					0	0	1	0	0
C6orf89	221477	broad.mit.edu	37	6	36882094	36882094	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:36882094G>A	ENST00000480824.2	+	5	732	c.438G>A	c.(436-438)caG>caA	p.Q146Q	C6orf89_ENST00000355190.3_Silent_p.Q153Q|C6orf89_ENST00000510325.2_Silent_p.Q40Q|C6orf89_ENST00000373685.1_Silent_p.Q146Q|C6orf89_ENST00000359359.2_Silent_p.Q40Q			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	146						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						ACTGTGAGCAGAATGAGTCAG	0.517000													21	21					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31782285	31782285	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:31782285C>T	ENST00000543095.2	-	28	4514	c.4330G>A	c.(4330-4332)Gac>Aac	p.D1444N	HEATR5A_ENST00000439348.1_Missense_Mutation_p.D1438N|HEATR5A_ENST00000389961.3_Missense_Mutation_p.D1438N|HEATR5A_ENST00000439727.1_Missense_Mutation_p.D1151N	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1438							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)		TAGACTAAGTCAAGCAGTCCA	0.428000													37	30					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36726373	36726373	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:36726373C>T	ENST00000431169.1	-	2	454	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	AOAH_ENST00000258749.5_Missense_Mutation_p.E52K|AOAH_ENST00000535891.1_Intron	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	52	Saposin B-type.				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GCAAGCTGTTCTATTACAGAC	0.512000													14	33					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244139	46244139	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:46244139C>T	ENST00000334344.6	+	15	2405	c.2233C>T	c.(2233-2235)Cag>Tag	p.Q745*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q355*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q596*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	745					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCTGTTGTTCAGAATCATAG	0.443000			"""N, S, F"""		hepatocellular carcinoma								41	51					0	0	1	0	0
NAMPT	10135	broad.mit.edu	37	7	105909656	105909656	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:105909656C>T	ENST00000222553.3	-	5	857	c.550G>A	c.(550-552)Gat>Aat	p.D184N	NAMPT_ENST00000484527.1_5'UTR|NAMPT_ENST00000354289.4_Missense_Mutation_p.D184N	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	184					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TCCAGACCATCTAAGTTACCA	0.368000													11	28					0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19619564	19619564	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:19619564G>C	ENST00000438132.3	+	10	1164	c.1116G>C	c.(1114-1116)aaG>aaC	p.K372N	C16orf62_ENST00000542263.1_Missense_Mutation_p.K372N|C16orf62_ENST00000251143.5_Missense_Mutation_p.K283N|C16orf62_ENST00000448695.1_Missense_Mutation_p.K133N|C16orf62_ENST00000538853.1_3'UTR|C16orf62_ENST00000543152.1_Missense_Mutation_p.K32N|C16orf62_ENST00000417362.2_Missense_Mutation_p.K283N	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	283						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GGTTTTTCAAGATTGCCTCCA	0.353000													23	52					0	0	1	0	0
WDR26	80232	broad.mit.edu	37	1	224581534	224581534	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:224581534A>C	ENST00000414423.2	-	13	2149	c.1956T>G	c.(1954-1956)atT>atG	p.I652M	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.I505M	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	652						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TATTACCTTCAATATTCTGGT	0.388000													25	41					0	0	1	0	0
SCPEP1	59342	broad.mit.edu	37	17	55083551	55083551	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:55083551G>A	ENST00000262288.3	+	13	1369	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	438					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					CTGACCAAGGGGACATGGCTC	0.522000													25	56					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244406	46244406	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:46244406C>T	ENST00000334344.6	+	15	2672	c.2500C>T	c.(2500-2502)Caa>Taa	p.Q834*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q444*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q685*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	834	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AACTTCATCTCAACAGACATC	0.433000			"""N, S, F"""		hepatocellular carcinoma								36	64					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17542916	17542916	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:17542916C>T	ENST00000005226.7	-	13	1061	c.1062G>A	c.(1060-1062)gaG>gaA	p.E354E	USH1C_ENST00000527720.1_Silent_p.E323E|USH1C_ENST00000527020.1_Silent_p.E335E|USH1C_ENST00000318024.4_Silent_p.E354E	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	354					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TCCGGTATCTCTCATTTTCCT	0.507000													5	91					0	0	1	0	0
GBP4	115361	broad.mit.edu	37	1	89654466	89654466	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:89654466C>T	ENST00000355754.6	-	8	1306	c.1209G>A	c.(1207-1209)gaG>gaA	p.E403E		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	403				IEKKKGDFV -> KKKKKKKKK (in Ref. 5; AAH17889).		cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CCTTCTTTTTCTCTATGGTGT	0.448000													58	91					0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9888112	9888112	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr18:9888112G>A	ENST00000357775.5	+	2	1670	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	TXNDC2_ENST00000306084.6_Missense_Mutation_p.E546K|TXNDC2_ENST00000536353.2_3'UTR	NM_032243.5	NP_115619.4	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)		Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GGAAAAACTTGAAGCAGTCAT	0.378000													11	21					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204228723	204228723	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:204228723C>G	ENST00000272203.3	-	8	986	c.670G>C	c.(670-672)Gag>Cag	p.E224Q	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.E244Q	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	224	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TCTGGCCTCTCAGGCCTTCTC	0.652000													19	56					0	0	1	0	0
METTL25	84190	broad.mit.edu	37	12	82752565	82752565	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:82752565C>T	ENST00000248306.3	+	1	290	c.221C>T	c.(220-222)tCa>tTa	p.S74L	METTL25_ENST00000547357.1_3'UTR|CCDC59_ENST00000256151.7_5'UTR|CCDC59_ENST00000548126.1_5'UTR	NM_032230.2	NP_115606.2			methyltransferase like 25																		GCCCTGCCCTCAGAGACGCGC	0.662000											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	38					0	0	1	0	0
TRIM14	9830	broad.mit.edu	37	9	100850218	100850218	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:100850218G>T	ENST00000341469.2	-	6	872	c.863C>A	c.(862-864)aCg>aAg	p.T288K	TRIM14_ENST00000342043.3_Missense_Mutation_p.T288K|TRIM14_ENST00000478530.1_5'UTR|TRIM14_ENST00000375098.3_Missense_Mutation_p.T288K|TRIM14_ENST00000538344.1_Missense_Mutation_p.T69K	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	288	B30.2/SPRY.					cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GCAGCGCACCGTCAGGCGATC	0.736000													3	8					0.115264	0.115264	1	1	0
NPFFR1	64106	broad.mit.edu	37	10	72026099	72026099	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:72026099C>T	ENST00000277942.6	-	2	55	c.56G>A	c.(55-57)gGg>gAg	p.G19E		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1							integral to membrane|plasma membrane	neuropeptide receptor activity			endometrium(2)|lung(1)	3						AGTGTTAGTCCCATTCTGACT	0.552000													5	21					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136076567	136076567	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:136076567C>G	ENST00000383202.2	-	28	3316	c.3060G>C	c.(3058-3060)aaG>aaC	p.K1020N	STAG1_ENST00000236698.5_Missense_Mutation_p.K1020N|STAG1_ENST00000434713.2_Missense_Mutation_p.K760N|STAG1_ENST00000536929.1_Missense_Mutation_p.K604N	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1020					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CTTACACTGTCTTTTTGTCCT	0.294000													18	34					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165551902	165551902	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:165551902G>A	ENST00000375458.2	-	11	2221	c.2000C>T	c.(1999-2001)tCa>tTa	p.S667L	COBLL1_ENST00000194871.6_Missense_Mutation_p.S772L|COBLL1_ENST00000342193.4_Missense_Mutation_p.S705L|COBLL1_ENST00000392717.2_Missense_Mutation_p.S743L|COBLL1_ENST00000409184.3_Missense_Mutation_p.S705L	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	743										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CGGATCTTCTGAATGTATAAT	0.373000													58	104					0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	29323103	29323103	+	Translation_Start_Site	SNP	A	A	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:29323103A>T	ENST00000434693.2	+	0	631				RBMS3_ENST00000445033.1_De_novo_Start_OutOfFrame|RBMS3_ENST00000383767.2_De_novo_Start_OutOfFrame|RBMS3-AS3_ENST00000413430.1_RNA|RBMS3_ENST00000396583.3_De_novo_Start_OutOfFrame|RBMS3_ENST00000452462.1_De_novo_Start_OutOfFrame|RBMS3_ENST00000273139.9_De_novo_Start_OutOfFrame|RBMS3_ENST00000383766.2_De_novo_Start_OutOfFrame	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3							cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GTGGTTTAAGAGGAAGCTCGG	0.483000													25	10					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28714075	28714075	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr18:28714075C>T	ENST00000257197.3	-	13	2156	c.1895G>A	c.(1894-1896)cGt>cAt	p.R632H	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.R632H	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	632	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTGCCGTTGACGAAGAATGGC	0.348000													31	30					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	179993589	179993589	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:179993589G>A	ENST00000367607.3	+	14	3840	c.3422G>A	c.(3421-3423)aGa>aAa	p.R1141K		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1141	Ser-rich.					centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CATTCTAACAGAAAGTCTGCC	0.413000													21	27					0	0	1	0	0
RRS1	23212	broad.mit.edu	37	8	67342183	67342183	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:67342183C>T	ENST00000320270.2	+	1	921	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C		NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	273					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus				kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GGAGCTGCTTCGTGTCATGAA	0.557000													14	25					0	0	1	0	0
DDAH2	23564	broad.mit.edu	37	6	31695035	31695035	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:31695035G>A	ENST00000375789.2	-	6	1467	c.837C>T	c.(835-837)ctC>ctT	p.L279L	DDAH2_ENST00000480913.1_5'UTR|DDAH2_ENST00000375787.2_Silent_p.L279L|DDAH2_ENST00000375792.3_Silent_p.L279L			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	279					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	GGCGTGTGCTGAGCACCAAGC	0.592000													50	53					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91806270	91806270	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:91806270G>A	ENST00000389857.6	-	7	668	c.582C>T	c.(580-582)ctC>ctT	p.L194L		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	194					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCCGCAGGTGGAGCACCATGC	0.662000													6	2					0	0	1	0	0
MRPL30	51263	broad.mit.edu	37	2	99804704	99804704	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:99804704C>T	ENST00000338148.3	+	3	314	c.116C>T	c.(115-117)tCa>tTa	p.S39L	MRPL30_ENST00000409145.1_Missense_Mutation_p.S39L|MRPL30_ENST00000465432.1_Intron|C2orf15_ENST00000512183.2_Missense_Mutation_p.S39L|MRPL30_ENST00000410042.1_Missense_Mutation_p.S39L	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	39					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						TTCACCAGATCAAGAATTCCA	0.279000													4	8					0	0	1	0	0
CARNS1	57571	broad.mit.edu	37	11	67190990	67190990	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:67190990G>C	ENST00000445895.2	+	9	1885	c.1771G>C	c.(1771-1773)Gat>Cat	p.D591H	CARNS1_ENST00000524740.1_3'UTR|CARNS1_ENST00000531040.1_Missense_Mutation_p.D565H|CARNS1_ENST00000423745.2_Missense_Mutation_p.D468H|CARNS1_ENST00000307823.3_Missense_Mutation_p.D468H			A5YM72	CRNS1_HUMAN	carnosine synthase 1	468	ATP-grasp.				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CCTCAAGCTAGATGGCTGCTT	0.627000													10	15					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808004	18808004	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:18808004G>A	ENST00000400664.1	+	1	581	c.529G>A	c.(529-531)Gac>Aac	p.D177N		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	177						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGCAGCAGCCGACGGCAGCTG	0.607000													11	30					0	0	1	0	0
SRP19	6728	broad.mit.edu	37	5	112200214	112200214	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:112200214G>A	ENST00000505459.1	+	3	333	c.178G>A	c.(178-180)Gta>Ata	p.V60I	CTC-487M23.8_ENST00000506997.1_3'UTR|CTC-554D6.1_ENST00000520401.1_3'UTR|SRP19_ENST00000515463.1_Silent_p.T34T|SRP19_ENST00000282999.3_Missense_Mutation_p.V60I|CTC-487M23.8_ENST00000512790.1_3'UTR	NM_001204193.1|NM_003135.2	NP_001191122.1|NP_003126.1	P09132	SRP19_HUMAN	signal recognition particle 19kDa	60					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding			breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		TGGACTTAACGTATTTCTTGA	0.323000													20	21					0	0	1	0	0
HELQ	113510	broad.mit.edu	37	4	84350762	84350762	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:84350762G>A	ENST00000295488.3	-	12	2595	c.2433C>T	c.(2431-2433)ctC>ctT	p.L811L	HELQ_ENST00000510985.1_Silent_p.L744L	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	811							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CTTTTTGTAGGAGTCCTTTTT	0.328000								Other identified genes with known or suspected DNA repair function					20	32					0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22826363	22826363	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:22826363C>T	ENST00000261374.3	+	1	866	c.432C>T	c.(430-432)ggC>ggT	p.G144G		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	144						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GGGCCTTGGGCACGGAACCCC	0.647000													10	16					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49052780	49052780	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:49052780C>T	ENST00000226432.4	+	15	2118	c.1935C>T	c.(1933-1935)atC>atT	p.I645I	CWH43_ENST00000513409.1_Silent_p.I618I	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	645					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AATTTAGGATCCCTGATGACC	0.393000													22	41					0	0	1	0	0
ACSS1	84532	broad.mit.edu	37	20	25038496	25038496	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:25038496G>A	ENST00000323482.4	-	1	322	c.243C>T	c.(241-243)ctC>ctT	p.L81L	ACSS1_ENST00000376726.3_Silent_p.L81L|ACSS1_ENST00000432802.2_Silent_p.L81L	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	81					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGTCCCACACGAGAGTGTCCC	0.657000													18	31					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58621779	58621779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:58621779G>A	ENST00000317147.5	-	4	546	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q72*|CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q72*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	72					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATCAGAAACTGAGTCTTTAAA	0.353000													20	35					0	0	1	0	0
SFPQ	6421	broad.mit.edu	37	1	35657035	35657035	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:35657035G>A	ENST00000357214.5	-	2	1022	c.924C>T	c.(922-924)atC>atT	p.I308I		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	308	RRM 1.				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CATCCTCCGTGATATCAGCAG	0.403000			T	TFE3	papillary renal cell								15	16					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115815887	115815887	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:115815887G>A	ENST00000343348.6	-	12	1968	c.1181C>T	c.(1180-1182)aCg>aTg	p.T394M	SEMA6A_ENST00000510263.1_Missense_Mutation_p.T394M|SEMA6A_ENST00000257414.8_Missense_Mutation_p.T394M|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	394	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GAGCGGGTGCGTCTTGATGAA	0.498000													4	52					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27346359	27346359	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:27346359C>T	ENST00000429845.2	-	13	1269	c.907G>A	c.(907-909)Gac>Aac	p.D303N	NEK10_ENST00000341435.5_Missense_Mutation_p.D303N			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	303							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTCAAGTGGTCAGAGTGGAGC	0.542000													19	18					0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130694262	130694262	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:130694262G>A	ENST00000510168.1	+	18	2050	c.1500G>A	c.(1498-1500)ttG>ttA	p.L500L	ATP2C1_ENST00000533801.2_Silent_p.L495L|ATP2C1_ENST00000507488.2_Silent_p.L484L|ATP2C1_ENST00000428331.2_Silent_p.L500L|ATP2C1_ENST00000504381.1_Silent_p.L445L|ATP2C1_ENST00000393221.4_Silent_p.L534L|ATP2C1_ENST00000513801.1_Silent_p.L484L|ATP2C1_ENST00000504948.1_Silent_p.L484L|ATP2C1_ENST00000508532.1_Silent_p.L500L|ATP2C1_ENST00000505330.1_Silent_p.L484L|ATP2C1_ENST00000328560.8_Silent_p.L500L|ATP2C1_ENST00000359644.3_Silent_p.L500L|ATP2C1_ENST00000422190.2_Silent_p.L500L			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	500					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GGCAGACCTTGACACTTACTC	0.463000									Hailey-Hailey disease				25	33					0	0	1	0	0
GTF2E2	2961	broad.mit.edu	37	8	30464631	30464631	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:30464631C>T	ENST00000355904.4	-	6	868	c.586G>A	c.(586-588)Gat>Aat	p.D196N	GTF2E2_ENST00000522833.1_5'UTR	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	196					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TTCTTCTTATCGGGACGATTT	0.308000													23	16					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29054237	29054237	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr18:29054237C>T	ENST00000257189.4	+	15	2338	c.2255C>T	c.(2254-2256)gCc>gTc	p.A752V		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	752					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTCGGAGCAGCCACTGGAGTT	0.537000													41	29					0	0	1	0	0
SLC38A9	153129	broad.mit.edu	37	5	54929659	54929659	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:54929659C>T	ENST00000396865.2	-	14	1944	c.1353G>A	c.(1351-1353)atG>atA	p.M451I	SLC38A9_ENST00000512595.1_Missense_Mutation_p.M388I|SLC38A9_ENST00000515629.1_Missense_Mutation_p.M388I|SLC38A9_ENST00000318672.3_Missense_Mutation_p.M451I|SLC38A9_ENST00000416547.2_Missense_Mutation_p.M327I|SLC38A9_ENST00000539768.1_3'UTR	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	451					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				ATACAGTCATCATCTGGAACA	0.448000													15	25					0	0	1	0	0
CARS2	79587	broad.mit.edu	37	13	111357910	111357910	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr13:111357910C>T	ENST00000257347.4	-	2	296	c.233G>A	c.(232-234)tGt>tAt	p.C78Y	CARS2_ENST00000535398.1_Intron	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	78					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	AGTTGGTCCACAGCTATACCT	0.353000													12	29					0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74453627	74453627	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:74453627G>A	ENST00000307439.5	-	5	606	c.312C>T	c.(310-312)gaC>gaT	p.D104D	RASSF6_ENST00000342081.3_Silent_p.D136D|RASSF6_ENST00000395777.2_Silent_p.D104D|RASSF6_ENST00000335049.5_Silent_p.D92D	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	136					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GATAGAGATCGTCAAATTCCC	0.383000													19	42					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97779539	97779539	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:97779539C>T	ENST00000420699.2	+	1	307	c.63C>T	c.(61-63)ttC>ttT	p.F21F	ANKRD36_ENST00000461153.2_Silent_p.F21F	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	21										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CGGATGGCTTCGCATTTCCCC	0.512000													21	61					0	0	1	0	0
TM2D1	83941	broad.mit.edu	37	1	62190818	62190818	+	Translation_Start_Site	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:62190818C>T	ENST00000294613.5	-	0	277				TM2D1_ENST00000371180.2_Missense_Mutation_p.S54N			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1						apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						TTTCTCGCCACTTCCGCTTCC	0.642000													27	37					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38481864	38481864	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:38481864C>T	ENST00000263409.4	-	20	3289	c.3127G>A	c.(3127-3129)Gac>Aac	p.D1043N	LIFR_ENST00000453190.2_Missense_Mutation_p.D1043N	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1043					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTAGGAGAGTCTGGAGACACT	0.403000			T	PLAG1	salivary adenoma								49	89					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160206422	160206422	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:160206422C>T	ENST00000392783.2	-	28	5155	c.4660G>A	c.(4660-4662)Gaa>Aaa	p.E1554K	BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1518K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1520K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1454K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTATTCTTTTCAGTCAGCGTT	0.428000													61	115					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204228847	204228847	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:204228847C>G	ENST00000272203.3	-	8	862	c.546G>C	c.(544-546)gaG>gaC	p.E182D	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.E202D	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	182	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GTGGGACGTTCTCCGAGTCTG	0.627000													12	32					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173953689	173953689	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:173953689C>T	ENST00000367696.2	-	3	651	c.300G>A	c.(298-300)aaG>aaA	p.K100K	RC3H1_ENST00000367694.2_Silent_p.K100K|RC3H1_ENST00000258349.4_Silent_p.K100K			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	100					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CTACACATTTCTTGGCTTCCT	0.383000													12	16					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187466860	187466860	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:187466860A>T	ENST00000261023.3	+	2	572	c.298A>T	c.(298-300)Att>Ttt	p.I100F	ITGAV_ENST00000374907.3_Missense_Mutation_p.I100F|ITGAV_ENST00000433736.2_Missense_Mutation_p.I54F	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	100					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GTGCCAGCCAATTGAATTTGA	0.423000													17	29					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144997295	144997295	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:144997295C>A	ENST00000322810.4	-	31	7382	c.7213G>T	c.(7213-7215)Gag>Tag	p.E2405*	PLEC_ENST00000398774.2_Nonsense_Mutation_p.E2236*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.E2268*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E2291*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.E2272*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.E2246*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E2268*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.E2254*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.E2295*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2405	Central fibrous rod domain.				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						TCAGCCTCCTCCTGCAGGAAG	0.642000													9	21					3.07112e-06	3.13422e-06	1	1	0
LDB1	8861	broad.mit.edu	37	10	103869736	103869736	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:103869736C>T	ENST00000361198.5	-	7	1105	c.482G>A	c.(481-483)tGg>tAg	p.W161*	LDB1_ENST00000425280.1_Nonsense_Mutation_p.W197*	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	197					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GCTGAAGTGCCACGTCTTTAT	0.602000													18	38					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52132666	52132666	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:52132666C>T	ENST00000222107.4	-	3	783	c.645G>A	c.(643-645)atG>atA	p.M215I	SIGLEC5_ENST00000534261.2_Missense_Mutation_p.M215I|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.M215I|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.M215I|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.M215I			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	215	Ig-like C2-type 1.		M -> V (in dbSNP:rs1807124).		cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTGGCGTTTCATCTGACAGG	0.632000													13	38					0	0	1	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53992675	53992675	+	Missense_Mutation	SNP	G	G	C	rs146004165		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:53992675G>C	ENST00000263634.3	-	2	169	c.35C>G	c.(34-36)tCt>tGt	p.S12C	GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.S50C|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Missense_Mutation_p.S47C|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000394717.2_Intron	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		47					intracellular signal transduction												TCCAACTGTAGAGCACGTGTC	0.428000													37	76					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121251880	121251880	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:121251880G>T	ENST00000264233.5	-	6	1045	c.917C>A	c.(916-918)tCa>tAa	p.S306*	POLQ_ENST00000488282.1_5'UTR	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	306					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAGTTTCATTGAAGAGTCATA	0.383000								DNA polymerases (catalytic subunits)					13	30					5.50884e-06	5.5933e-06	1	1	0
LONRF1	91694	broad.mit.edu	37	8	12583256	12583256	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr8:12583256C>T	ENST00000398246.3	-	11	2212	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	LONRF1_ENST00000525024.1_Missense_Mutation_p.E141K|LONRF1_ENST00000533751.1_Missense_Mutation_p.E358K	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	715	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TCCTCCCTCTCGGGCATTGAT	0.393000													22	39					0	0	1	0	0
CCND3	896	broad.mit.edu	37	6	41903779	41903779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:41903779G>A	ENST00000511642.1	-	5	1286	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	CCND3_ENST00000372987.4_Nonsense_Mutation_p.Q210*|CCND3_ENST00000372991.4_Nonsense_Mutation_p.Q260*|CCND3_ENST00000414200.2_Nonsense_Mutation_p.Q188*|CCND3_ENST00000415497.2_Nonsense_Mutation_p.Q64*|CCND3_ENST00000372988.4_Nonsense_Mutation_p.Q179*|CCND3_ENST00000510503.1_Missense_Mutation_p.S133L|CCND3_ENST00000511686.1_5'UTR			P30281	CCND3_HUMAN	cyclin D3	260					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	p.Q260*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAGCTGGTCTGAGAGGCTTCC	0.627000			T	IGH@	MM								6	3					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40049589	40049589	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:40049589G>T	ENST00000373233.3	-	31	5863	c.5686C>A	c.(5686-5688)Ccc>Acc	p.P1896T		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1896					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTAGTAGTGGGCTCCGTGAGA	0.512000													39	42					3.3946e-10	3.50031e-10	1	1	0
YWHAB	7529	broad.mit.edu	37	20	43530229	43530229	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr20:43530229G>A	ENST00000372839.3	+	3	329	c.55G>A	c.(55-57)Gag>Aag	p.E19K	YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Missense_Mutation_p.E19K	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide	19					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				TGAGCAGGCTGAGCGATATGA	0.458000													23	24					0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27480481	27480481	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:27480481C>T	ENST00000263980.3	-	1	920	c.345G>A	c.(343-345)atG>atA	p.M115I	SLC9A1_ENST00000374086.3_Missense_Mutation_p.M115I|SLC9A1_ENST00000545949.1_5'UTR	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	115					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TACCTATCTTCATGAGGCAGG	0.587000													23	50					0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162273101	162273101	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:162273101G>A	ENST00000389554.3	+	1	497	c.180G>A	c.(178-180)acG>acA	p.T60T		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	60						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GGGGGATGACGAATCAGTCAG	0.498000													31	60					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2115859	2115859	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr9:2115859A>C	ENST00000382203.1	+	25	3703	c.3494A>C	c.(3493-3495)cAg>cCg	p.Q1165P	SMARCA2_ENST00000349721.2_Missense_Mutation_p.Q1165P|SMARCA2_ENST00000357248.2_Missense_Mutation_p.Q1165P|SMARCA2_ENST00000382194.1_Missense_Mutation_p.Q1165P			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1165	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CGCATCGGGCAGCAGAACGAG	0.562000													9	8					0	0	1	0	0
ECD	11319	broad.mit.edu	37	10	74899248	74899248	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:74899248G>A	ENST00000372979.4	-	11	1446	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*	ECD_ENST00000454759.2_Nonsense_Mutation_p.Q371*|ECD_ENST00000430082.2_Nonsense_Mutation_p.Q447*	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	414					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TCTAACCACTGGTCATCTGAA	0.428000													37	72					0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77818388	77818388	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:77818388C>T	ENST00000334306.2	-	1	614	c.615G>A	c.(613-615)ctG>ctA	p.L205L		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	205	Ala-rich.																GCAGTACAGCCAGGTTGTTCT	0.731000													4	4					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7542296	7542296	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:7542296G>A	ENST00000379802.3	+	1	489	c.148G>A	c.(148-150)Gac>Aac	p.D50N	DSP_ENST00000418664.2_Missense_Mutation_p.D50N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	50	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CGTGATCACCGACCAGAACTC	0.701000													2	1					0	0	1	0	0
ALKBH2	121642	broad.mit.edu	37	12	109530580	109530580	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:109530580G>A	ENST00000429722.2	-	2	375	c.12C>T	c.(10-12)ttC>ttT	p.F4F	ALKBH2_ENST00000440112.2_Silent_p.F4F|ALKBH2_ENST00000343075.3_Silent_p.F4F	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	4					DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	CTTTCACCAGGAATCTGTCCA	0.522000								Direct reversal of damage					39	83					0	0	1	0	0
NOM1	64434	broad.mit.edu	37	7	156746908	156746908	+	Silent	SNP	C	C	T	rs114285170	byFrequency	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:156746908C>T	ENST00000275820.3	+	3	1239	c.1224C>T	c.(1222-1224)tgC>tgT	p.C408C	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	408	MIF4G.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGGGTGCCTGCGTCACTGCCT	0.542000													4	45					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100452766	100452766	+	Silent	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:100452766C>T	ENST00000279907.7	-	14	2501	c.2289G>A	c.(2287-2289)ttG>ttA	p.L763L	UHRF1BP1L_ENST00000545232.2_Silent_p.L413L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	763										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TCTTCCGCTTCAATCGGCCAG	0.403000													47	59					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19650526	19650526	+	Missense_Mutation	SNP	G	G	T	rs142743091		TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:19650526G>T	ENST00000586018.1	+	2	205	c.103G>T	c.(103-105)Ggc>Tgc	p.G35C	CILP2_ENST00000291495.5_Missense_Mutation_p.G35C			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	35						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GACTGCACTGGGCCTGGAAAG	0.667000													23	62					1.42536e-11	1.47741e-11	1	1	0
FOXP2	93986	broad.mit.edu	37	7	114299688	114299688	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:114299688G>T	ENST00000408937.3	+	14	2056	c.1682G>T	c.(1681-1683)cGg>cTg	p.R561L	FOXP2_ENST00000393489.3_Missense_Mutation_p.R444L|FOXP2_ENST00000393494.2_Missense_Mutation_p.R536L|FOXP2_ENST00000393498.2_Missense_Mutation_p.R515L|FOXP2_ENST00000350908.4_Missense_Mutation_p.R536L|FOXP2_ENST00000403559.4_Missense_Mutation_p.R553L|FOXP2_ENST00000393491.3_Missense_Mutation_p.R351L|FOXP2_ENST00000393500.3_3'UTR	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	536					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TGGTTTACACGGACATTTGCT	0.398000													9	78					0.00621372	0.00624515	1	1	0
RRM2	6241	broad.mit.edu	37	2	10269168	10269168	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:10269168G>A	ENST00000360566.2	+	9	1375	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	RRM2_ENST00000304567.5_Splice_Site_p.E302K	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	302					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		TGGTTCCTAGGAGTTCCTCAC	0.438000													37	86					0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	192863864	192863864	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:192863864C>T	ENST00000392314.1	-	6	998	c.607G>A	c.(607-609)Gat>Aat	p.D203N	AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000272771.5_Missense_Mutation_p.D203N|TMEFF2_ENST00000487771.1_5'UTR|AC098617.1_ENST00000428980.2_RNA			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	203	Kazal-like 2.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CATGCATTATCATAAGATTTC	0.363000													29	52					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44876484	44876484	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr15:44876484C>G	ENST00000261866.7	-	30	5410	c.5394G>C	c.(5392-5394)gaG>gaC	p.E1798D	SPG11_ENST00000427534.2_Missense_Mutation_p.E1798D|SPG11_ENST00000558319.1_Missense_Mutation_p.E1798D|SPG11_ENST00000535302.2_Missense_Mutation_p.E1798D	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1798					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AGATCTGCTTCTCCAGCTCCT	0.567000													16	18					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50243401	50243401	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:50243401C>T	ENST00000246801.3	-	10	1619	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	TSKS_ENST00000358830.3_Missense_Mutation_p.E313K	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	513							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CTCAGGGCCTCTGCCCTGACG	0.647000													22	65					0	0	1	0	0
TMBIM6	7009	broad.mit.edu	37	12	50135933	50135933	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr12:50135933C>T	ENST00000423828.1	+	1	342	c.14C>T	c.(13-15)tCt>tTt	p.S5F	TMBIM6_ENST00000552699.1_Missense_Mutation_p.S5F|TMBIM6_ENST00000267115.5_Intron|TMBIM6_ENST00000549385.1_Intron	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	0					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TCACACTCCTCTGTGACACGC	0.692000													4	18					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183267920	183267920	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:183267920G>A	ENST00000511685.1	+	3	472	c.349G>A	c.(349-351)Gat>Aat	p.D117N	TENM3_ENST00000406950.2_Missense_Mutation_p.D117N					teneurin transmembrane protein 3																		TGCAGGGTCAGATGCTGATAC	0.532000													4	6					0	0	1	0	0
UROS	7390	broad.mit.edu	37	10	127486691	127486691	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr10:127486691G>A	ENST00000368797.4	-	7	642	c.418C>T	c.(418-420)Cta>Tta	p.L140L	UROS_ENST00000462490.1_5'UTR|UROS_ENST00000368786.1_Silent_p.L140L	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	140					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				CAGGGAAATAGAAGAGGCAGT	0.507000													25	40					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147499895	147499895	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:147499895G>A	ENST00000359874.3	+	26	2552	c.2479G>A	c.(2479-2481)Gaa>Aaa	p.E827K	SPINK5_ENST00000256084.7_Missense_Mutation_p.E827K|SPINK5_ENST00000398454.1_Missense_Mutation_p.E827K	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	827	Kazal-like 12.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAGAGGATGAAGACAGGAG	0.393000													7	7					0	0	1	0	0
NPPB	4879	broad.mit.edu	37	1	11918889	11918889	+	Translation_Start_Site	SNP	A	A	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:11918889A>T	ENST00000376468.3	-	1	99	c.2T>A	c.(1-3)aTg>aAg	p.M1K		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	1					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	CTGGGGATCCATGTCTCTGGA	0.657000													24	43					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11586880	11586880	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:11586880A>G	ENST00000294484.6	+	13	2924	c.2786A>G	c.(2785-2787)cAg>cGg	p.Q929R	PTCHD2_ENST00000389575.3_Missense_Mutation_p.Q929R	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	929					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACCAAGGAGCAGCAGCACACC	0.592000													13	40					0	0	1	0	0
LOC728323	728323	broad.mit.edu	37	2	243061183	243061183	+	RNA	SNP	C	C	T			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:243061183C>T	ENST00000456398.1	+	0	531																											ATTCAAGATACCCGAAGGTTC	0.358000													4	30					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210558419	210558419	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:210558419G>C	ENST00000360351.4	+	7	2031	c.1525G>C	c.(1525-1527)Gat>Cat	p.D509H	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.D505H|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	509					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.D509N(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGCAGTTACAGATTCAGCCAT	0.428000													25	26					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70349010	70349010	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:70349010G>A	ENST00000338508.4	-	24	2090	c.2091C>T	c.(2089-2091)gtC>gtT	p.V697V	SHANK2_ENST00000449833.2_Silent_p.V108V|SHANK2_ENST00000409530.1_Silent_p.V107V|SHANK2_ENST00000357171.3_Silent_p.V108V|SHANK2_ENST00000423696.2_Silent_p.V317V|SHANK2_ENST00000449116.2_Silent_p.V108V|SHANK2_ENST00000409161.1_Silent_p.V107V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	317					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCCTGTGGCCGACTTTGACAA	0.582000													8	59					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119456781	119456781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:119456781G>A	ENST00000369429.3	-	6	892	c.883C>T	c.(883-885)Cga>Tga	p.R295*	TBX15_ENST00000207157.3_Nonsense_Mutation_p.R189*			Q96SF7	TBX15_HUMAN	T-box 15	295						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)		AAAGGGTTTCGGTCAATTTTT	0.333000													15	23					0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1563943	1563943	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:1563943G>A	ENST00000357210.4	+	16	2433	c.2217G>A	c.(2215-2217)gtG>gtA	p.V739V	MIB2_ENST00000360522.4_Silent_p.V704V|MIB2_ENST00000504599.1_Silent_p.V695V|MIB2_ENST00000505820.2_Silent_p.V796V|MIB2_ENST00000520777.1_Silent_p.V792V|MIB2_ENST00000518681.1_Silent_p.V731V|MIB2_ENST00000378712.1_Silent_p.V616V|MIB2_ENST00000355826.5_Silent_p.V782V|MIB2_ENST00000378708.1_Silent_p.V645V|MIB2_ENST00000378710.3_Silent_p.V703V	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	739					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGCCCACGTGGGGCTGGTGC	0.697000													3	9					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24521660	24521660	+	Silent	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:24521660T>C	ENST00000355123.4	-	13	1811	c.1368A>G	c.(1366-1368)cgA>cgG	p.R456R	ITSN2_ENST00000406921.3_Silent_p.R456R|ITSN2_ENST00000361999.3_Silent_p.R456R	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	456					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCGACGTTGTCGTTCAAGTT	0.338000													25	64					0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89261279	89261279	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:89261279G>A	ENST00000289746.2	+	14	2226	c.2161G>A	c.(2161-2163)Gct>Act	p.A721T		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	721					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGGCTTGGAGGCTGCAGATAG	0.637000													3	8					0	0	1	0	0
KLC3	147700	broad.mit.edu	37	19	45852790	45852790	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:45852790G>C	ENST00000470402.1	+	7	1215	c.1115G>C	c.(1114-1116)cGg>cCg	p.R372P	KLC3_ENST00000391946.2_Missense_Mutation_p.R358P|KLC3_ENST00000585434.1_Missense_Mutation_p.R357P			Q6P597	KLC3_HUMAN	kinesin light chain 3	358						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CACTATGCCCGGGCCCTGAGC	0.637000													11	60					0	0	1	0	0
CMIP	80790	broad.mit.edu	37	16	81739167	81739167	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr16:81739167T>C	ENST00000537098.3	+	19	2227	c.2155T>C	c.(2155-2157)Tgc>Cgc	p.C719R	CMIP_ENST00000539778.2_Missense_Mutation_p.C625R|CMIP_ENST00000398040.4_Missense_Mutation_p.C566R|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	685						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						GCTGAACCTGTGCGAGACCCC	0.637000													6	9					0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128630024	128630024	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr7:128630024G>A	ENST00000393245.1	-	11	1964	c.1591C>T	c.(1591-1593)Cag>Tag	p.Q531*	TNPO3_ENST00000471234.1_Nonsense_Mutation_p.Q497*|TNPO3_ENST00000482320.1_Nonsense_Mutation_p.Q431*|TNPO3_ENST00000471166.1_Nonsense_Mutation_p.Q531*|TNPO3_ENST00000265388.5_Nonsense_Mutation_p.Q497*	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	497					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CCAAGGAACTGAGGATTTCGA	0.438000													23	50					0	0	1	0	0
C1orf141	400757	broad.mit.edu	37	1	67560923	67560923	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:67560923G>A	ENST00000371007.2	-	7	707	c.598C>T	c.(598-600)Cac>Tac	p.H200Y	C1orf141_ENST00000544837.1_Missense_Mutation_p.H200Y|C1orf141_ENST00000371006.1_Missense_Mutation_p.H200Y	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	200										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						ATTACCATGTGAGAAGTTACT	0.343000													7	15					0	0	1	0	0
TMEM177	80775	broad.mit.edu	37	2	120438762	120438762	+	Silent	SNP	G	G	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr2:120438762G>A	ENST00000424086.1	+	2	806	c.333G>A	c.(331-333)ttG>ttA	p.L111L	TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000401466.1_Silent_p.L111L|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Silent_p.L111L	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	111						integral to membrane		p.L111F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CCAGTTTCTTGGGAGACCTAG	0.587000													86	167					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27056181	27056191	+	Frame_Shift_Del	DEL	CAGCCATATGG	CAGCCATATGG	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:27056181_27056191delCAGCCATATGG	ENST00000324856.7	+	2	1548_1558	c.1177_1187delCAGCCATATGG	c.(1177-1188)cagccatatggcfs	p.QPYG393fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.QPYG393fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.QPYG10fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	393					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.Y395*(1)|p.Q393*(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)		GATGAGACCTCAGCCATATGGCGGGACTAAC	0.545			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								22	65	---	---	---	---					
IFI44L	10964	broad.mit.edu	37	1	79102839	79102840	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:79102839_79102840insA	ENST00000370751.5	+	6	1178_1179	c.999_1000insA	c.(1000-1002)aaafs	p.K334fs	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_Frame_Shift_Ins_p.K76fs	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like							cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ATCTCTACTCTAAAATGTTGGC	0.342													21	52	---	---	---	---					
GPR37L1	9283	broad.mit.edu	37	1	202092266	202092267	+	In_Frame_Ins	INS	-	-	ACA			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:202092266_202092267insACA	ENST00000367282.5	+	1	281_282	c.175_176insACA	c.(175-177)tat>tACAat	p.59_60insN		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1							integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CGTGCAGCAGTATGTGCCTGAG	0.673													14	17	---	---	---	---					
PLEKHA6	22874	broad.mit.edu	37	1	204197926	204197926	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr1:204197926delG	ENST00000272203.3	-	20	3131	c.2815delC	c.(2815-2817)ctgfs	p.L939fs	PLEKHA6_ENST00000414478.1_Frame_Shift_Del_p.L959fs	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	939										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TCAGGGCTCAGGGGAGTGTCA	0.557													15	43	---	---	---	---					
C3orf17	25871	broad.mit.edu	37	3	112724493	112724519	+	In_Frame_Del	DEL	CATGGATGCCTCTAAGATTTTCATGAA	CATGGATGCCTCTAAGATTTTCATGAA	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:112724493_112724519delCATGGATGCCTCTAAGATTTTCATGAA	ENST00000314400.5	-	9	1759_1785	c.1568_1594delTTCATGAAAATCTTAGAGGCATCCATG	c.(1567-1596)attcatgaaaatcttagaggcatccatgaa>aaa	p.523_532IHENLRGIHE>K	C3orf17_ENST00000393857.2_In_Frame_Del_p.387_396IHENLRGIHE>K|C3orf17_ENST00000383675.2_In_Frame_Del_p.453_462IHENLRGIHE>K	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	523						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						GTTTCATTTTCATGGATGCCTCTAAGATTTTCATGAATCATTTTCTC	0.361													26	73	---	---	---	---					
MAGEF1	64110	broad.mit.edu	37	3	184429408	184429414	+	Frame_Shift_Del	DEL	CCAAGGC	CCAAGGC	-	rs6770319	byFrequency	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr3:184429408_184429414delCCAAGGC	ENST00000317897.3	-	1	422_428	c.196_202delGCCTTGG	c.(196-204)gccttggcafs	p.ALA66fs		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	66				A -> S (in Ref. 1; AAG30208, 2; AAG38606 and 3; AAH10056).				p.L67*(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			CTGCGCCTTGCCAAGGCTTTGGCCGCC	0.681													33	56	---	---	---	---					
LRRC66	339977	broad.mit.edu	37	4	52863983	52863983	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr4:52863983delC	ENST00000343457.3	-	3	793	c.787delG	c.(787-789)gcafs	p.A263fs		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	263						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGAAAGACTGCCACACTATCA	0.398													9	170	---	---	---	---					
PPAP2A	8611	broad.mit.edu	37	5	54721068	54721070	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:54721068_54721070delGTT	ENST00000307259.8	-	6	1239_1241	c.819_821delAAC	c.(817-822)acaact>act	p.273_274TT>T	SKIV2L2_ENST00000230640.5_3'UTR|PPAP2A_ENST00000264775.5_In_Frame_Del_p.274_275TT>T	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	273					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				GTGATTCCCAGTTGTTGGTGTTT	0.438													30	44	---	---	---	---					
G3BP1	10146	broad.mit.edu	37	5	151179821	151179822	+	Frame_Shift_Ins	INS	-	-	GGTGG			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr5:151179821_151179822insGGTGG	ENST00000394123.3	+	10	1143_1144	c.998_999insGGTGG	c.(997-1002)atggtgfs	p.-334fs	G3BP1_ENST00000356245.3_Frame_Shift_Ins_p.-334fs|G3BP1_ENST00000543466.1_Frame_Shift_Ins_p.-152fs			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1						Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CCCCGAAGAATGGTGAGACACC	0.416													14	24	---	---	---	---					
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs74661005	by1000genomes	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243																											GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674													5	2	---	---	---	---					
MS4A2	2206	broad.mit.edu	37	11	59861476	59861476	+	Frame_Shift_Del	DEL	C	C	-	rs143436537	byFrequency	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:59861476delC	ENST00000278888.3	+	6	679	c.577delC	c.(577-579)cttfs	p.L193fs		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	193					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	CATTCTGGGACTTGGTAGTGC	0.403													8	36	---	---	---	---					
H2AFX	3014	broad.mit.edu	37	11	118965789	118965815	+	In_Frame_Del	DEL	CCTGGGCGATCGTCACGCCGCCCAGCA	CCTGGGCGATCGTCACGCCGCCCAGCA	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr11:118965789_118965815delCCTGGGCGATCGTCACGCCGCCCAGCA	ENST00000530167.1	-	1	362_388	c.290_316delTGCTGGGCGGCGTGACGATCGCCCAGG	c.(289-318)ctgctgggcggcgtgacgatcgcccaggga>cga	p.97_106LLGGVTIAQG>R		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	97					DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		AGGACGCCTCCCTGGGCGATCGTCACGCCGCCCAGCAGCTTGTTGAG	0.692								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	76	---	---	---	---					
SYNE3	161176	broad.mit.edu	37	14	95912274	95912289	+	Frame_Shift_Del	DEL	CTGTTATGCAGCAGGT	CTGTTATGCAGCAGGT	-	rs28526182	byFrequency	TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr14:95912274_95912289delCTGTTATGCAGCAGGT	ENST00000334258.5	-	8	1603_1618	c.1589_1604delACCTGCTGCATAACAG	c.(1588-1605)gacctgctgcataacagcfs	p.DLLHNS530fs	SYNE3_ENST00000557275.1_Frame_Shift_Del_p.DLLHNS530fs|SYNE3_ENST00000553340.1_Frame_Shift_Del_p.DLLHNS530fs|SYNE3_ENST00000554873.1_Frame_Shift_Del_p.DLLHNS287fs	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CTGCAGGAGGCTGTTATGCAGCAGGTCTCTGTCCCT	0.597													17	33	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29556856	29556866	+	Frame_Shift_Del	DEL	TTATTGACTGA	TTATTGACTGA	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr17:29556856_29556866delTTATTGACTGA	ENST00000358273.4	+	22	3237_3247	c.2854_2864delTTATTGACTGA	c.(2854-2865)ttattgactgatfs	p.LLTD952fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.LLTD952fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	952					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.L952*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTTTAGGTTTTATTGACTGATACCAATACT	0.370			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			23	49	---	---	---	---					
EPHX3	79852	broad.mit.edu	37	19	15342144	15342157	+	Frame_Shift_Del	DEL	CAAGTCCACAGCCA	CAAGTCCACAGCCA	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:15342144_15342157delCAAGTCCACAGCCA	ENST00000221730.3	-	3	600_613	c.380_393delTGGCTGTGGACTTG	c.(379-393)gtggctgtggacttgfs	p.VAVDL127fs	EPHX3_ENST00000602233.1_Frame_Shift_Del_p.VAVDL127fs|EPHX3_ENST00000435261.1_Frame_Shift_Del_p.VAVDL127fs	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	127						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CATAGCCTCGCAAGTCCACAGCCACAACATGGAA	0.621													11	49	---	---	---	---					
FCHO1	23149	broad.mit.edu	37	19	17877494	17877499	+	In_Frame_Del	DEL	TGGGAG	TGGGAG	-			TCGA-FD-A3SN-01A-12D-A22Z-08	TCGA-FD-A3SN-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a4d3f1-c0ac-4507-9e2a-7b86e8eb92ff	69161742-3ba9-43f9-b258-4ef2925b854d	g.chr19:17877494_17877499delTGGGAG	ENST00000594202.1	+	7	490_495	c.211_216delTGGGAG	c.(211-216)tgggagdel	p.WE71del	FCHO1_ENST00000389133.4_In_Frame_Del_p.WE71del|FCHO1_ENST00000600676.1_In_Frame_Del_p.WE71del|FCHO1_ENST00000597512.1_In_Frame_Del_p.WE78del|FCHO1_ENST00000596951.1_In_Frame_Del_p.WE71del|FCHO1_ENST00000596536.1_In_Frame_Del_p.WE71del|FCHO1_ENST00000539407.1_In_Frame_Del_p.WE71del|FCHO1_ENST00000252771.7_In_Frame_Del_p.WE71del|FCHO1_ENST00000595033.1_In_Frame_Del_p.WE21del	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	71	FCH.									NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CGCCCCGCTCTGGGAGGTCTTCCGCG	0.641													8	20	---	---	---	---					
