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
RREB1	6239	broad.mit.edu	37	6	7230136	7230136	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr6:7230136A>G	ENST00000379938.2	+	10	2341	c.1804A>G	c.(1804-1806)Atc>Gtc	p.I602V	RREB1_ENST00000334984.6_Missense_Mutation_p.I602V|RREB1_ENST00000349384.6_Missense_Mutation_p.I602V|RREB1_ENST00000379933.3_Missense_Mutation_p.I602V	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	602					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)				GGACAGCATCATCGAGGCCCT	0.672000													11	30					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23792352	23792352	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr7:23792352C>T	ENST00000354639.3	+	9	1429	c.965C>T	c.(964-966)gCt>gTt	p.A322V	STK31_ENST00000428484.1_Missense_Mutation_p.A322V|STK31_ENST00000433467.2_Missense_Mutation_p.A345V|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.A345V	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	345							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGGCAGCTGCTGTGGATTTG	0.368000													14	75					0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79667832	79667832	+	Silent	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr17:79667832T>C	ENST00000329138.4	+	20	2259	c.2124T>C	c.(2122-2124)ccT>ccC	p.P708P		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	708	Gln-rich.|Interaction with NF2.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GCTACCAGCCTTACAACATGC	0.642000													13	53					0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109927763	109927763	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr12:109927763A>G	ENST00000342494.3	+	8	1179	c.584A>G	c.(583-585)aAt>aGt	p.N195S	UBE3B_ENST00000540230.1_Missense_Mutation_p.N195S|UBE3B_ENST00000434735.2_Missense_Mutation_p.N195S|UBE3B_ENST00000280774.5_Missense_Mutation_p.N195S|UBE3B_ENST00000340074.5_Missense_Mutation_p.N195S|UBE3B_ENST00000537063.1_Missense_Mutation_p.N195S|UBE3B_ENST00000536398.1_Missense_Mutation_p.N195S	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	195					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						ATTTGTGCAAATATAATGGGA	0.448000													68	82					0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	53003496	53003496	+	Silent	SNP	G	G	A	rs138963960	by1000genomes	TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr14:53003496G>A	ENST00000281741.4	-	6	704	c.333C>T	c.(331-333)ctC>ctT	p.L111L	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	111					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GGAATTCTCTGAGCAATATGT	0.313000													9	36					0	0	1	0	0
FRMD8	83786	broad.mit.edu	37	11	65172435	65172435	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr11:65172435C>T	ENST00000317568.5	+	10	1335	c.1172C>T	c.(1171-1173)cCc>cTc	p.P391L	FRMD8_ENST00000416776.2_Missense_Mutation_p.P357L|FRMD8_ENST00000355991.5_Missense_Mutation_p.P335L	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	391						cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CCCTCGGACCCCAGCTCCTCA	0.652000													13	54					0	0	1	0	0
THAP5	168451	broad.mit.edu	37	7	108204880	108204880	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr7:108204880T>C	ENST00000415914.3	-	3	1096	c.943A>G	c.(943-945)Aca>Gca	p.T315A	THAP5_ENST00000313516.5_Missense_Mutation_p.T273A|THAP5_ENST00000493722.1_5'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	315					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						AAAACTTCTGTCCCATAGTCT	0.348000													18	56					0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28331784	28331784	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr16:28331784C>T	ENST00000341901.4	+	4	1606	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	273	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						GCAGCGGGGCCGCCTGCCGGG	0.736000													8	23					0	0	1	0	0
C10orf88	80007	broad.mit.edu	37	10	124697528	124697528	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr10:124697528C>T	ENST00000481909.1	-	5	1020	c.796G>A	c.(796-798)Ggg>Agg	p.G266R	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	266										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		GTCACGTTCCCAGATGTCAAT	0.398000													12	54					0	0	1	0	0
ZNF326	284695	broad.mit.edu	37	1	90470707	90470707	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:90470707A>G	ENST00000340281.4	+	4	256	c.113A>G	c.(112-114)tAt>tGt	p.Y38C	ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000361911.5_Missense_Mutation_p.Y38C|ZNF326_ENST00000370447.2_Missense_Mutation_p.Y38C	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	38	Gly-rich.|Mediates transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GATCGTGACTATGGCCATGGA	0.413000													16	54					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146697081	146697081	+	Silent	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr4:146697081G>A	ENST00000508784.1	-	10	2780	c.2553C>T	c.(2551-2553)ccC>ccT	p.P851P	ZNF827_ENST00000513320.1_Silent_p.P501P|ZNF827_ENST00000379448.4_Silent_p.P851P			Q17R98	ZN827_HUMAN	zinc finger protein 827	851					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TAGCAGCATAGGGGCACAAGT	0.498000													40	41					0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98355914	98355914	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr2:98355914G>C	ENST00000264972.5	+	14	2028	c.1813G>C	c.(1813-1815)Gaa>Caa	p.E605Q	ZAP70_ENST00000442208.1_Missense_Mutation_p.E479Q|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.E298Q	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	605					immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CAGCAAGGTGGAAGGGCCCCC	0.687000													6	55					0	0	1	0	0
TRIM59	286827	broad.mit.edu	37	3	160155772	160155772	+	Silent	SNP	T	T	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr3:160155772T>A	ENST00000309784.4	-	3	1385	c.1200A>T	c.(1198-1200)atA>atT	p.I400I	RP11-432B6.3_ENST00000483754.1_Intron|TRIM59_ENST00000543469.1_Intron	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	400						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AATGGGAAACTATTTTCCACA	0.333000													6	69					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11047508	11047508	+	RNA	SNP	A	A	G			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr21:11047508A>G	ENST00000470054.1	-	0	746									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGTTGGTACAGATTTCATAA	0.343000													7	312					0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44586291	44586291	+	Silent	SNP	C	C	T	rs146076876		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr20:44586291C>T	ENST00000322927.2	-	17	2476	c.2376G>A	c.(2374-2376)acG>acA	p.T792T	ZNF335_ENST00000426788.1_Silent_p.T637T	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	792					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				AGGCTGTCTGCGTGGCCATCG	0.612000													15	49					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11572384	11572384	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr17:11572384G>A	ENST00000262442.3	+	16	2803	c.2735G>A	c.(2734-2736)tGt>tAt	p.C912Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.C912Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	912	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTTCAGAGTGTAAGGCAGGA	0.423000													13	74					0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29589031	29589031	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr6:29589031C>T	ENST00000377034.4	-	11	1505	c.1170G>A	c.(1168-1170)tgG>tgA	p.W390*	GABBR1_ENST00000355973.3_Nonsense_Mutation_p.W273*|GABBR1_ENST00000377012.4_Nonsense_Mutation_p.W273*|GABBR1_ENST00000377016.4_Nonsense_Mutation_p.W328*|GABBR1_ENST00000376977.3_Nonsense_Mutation_p.W390*	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	390					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CAATGAGGAACCAGACGTACT	0.458000													12	43					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412252	139412252	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr9:139412252C>T	ENST00000277541.6	-	8	1468	c.1393G>A	c.(1393-1395)Gcc>Acc	p.A465T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	465	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGCAGGTGGCGTCGTTCTGG	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			91	72					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67124901	67124901	+	Silent	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr17:67124901G>A	ENST00000284425.2	-	8	1152	c.978C>T	c.(976-978)gtC>gtT	p.V326V		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	326					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AATTGGTGAGGACAGCTTTCT	0.398000													18	80					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11009437	11009437	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr16:11009437G>C	ENST00000324288.8	+	14	3032	c.2899G>C	c.(2899-2901)Gtc>Ctc	p.V967L	CIITA_ENST00000381835.5_Missense_Mutation_p.V383L	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	967			Missing (in BLS2).		interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GCTGGGCCCTGTCTCAGGCCC	0.597000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								24	36					0	0	1	0	0
SH2B3	10019	broad.mit.edu	37	12	111885008	111885008	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr12:111885008G>C	ENST00000341259.2	+	5	1363	c.1006G>C	c.(1006-1008)Gat>Cat	p.D336H	SH2B3_ENST00000538307.1_Missense_Mutation_p.D134H	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	336					blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						GGGCAGCACAGATTCCCTTAA	0.572000													40	49					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182389978	182389978	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr2:182389978G>C	ENST00000397033.2	+	21	2729	c.2299G>C	c.(2299-2301)Gca>Cca	p.A767P		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	767					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGTGACTGTAGCAATACCTTT	0.363000													3	21					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306941	54306941	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr15:54306941A>T	ENST00000545554.1	+	1	1841	c.1841A>T	c.(1840-1842)cAa>cTa	p.Q614L	UNC13C_ENST00000260323.11_Missense_Mutation_p.Q614L|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q614L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	614					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAGGGTATCCAAGGGCAGACT	0.498000													13	66					0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115336941	115336941	+	Missense_Mutation	SNP	C	C	T	rs78201625	byFrequency	TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr10:115336941C>T	ENST00000351270.3	+	5	460	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W	HABP2_ENST00000542051.1_Missense_Mutation_p.R96W|HABP2_ENST00000537906.1_Silent_p.A110A|HABP2_ENST00000541666.1_Missense_Mutation_p.R122W	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	122	EGF-like 2.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		CCCATGTGGCCGGGGCCAATG	0.488000													8	106					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413228	105413228	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr14:105413228C>A	ENST00000333244.5	-	7	8679	c.8560G>T	c.(8560-8562)Ggg>Tgg	p.G2854W	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2854						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTAAGATCCCCTTGCATGGAG	0.632000													33	299					8.73648e-17	1.02172e-16	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49436343	49436343	+	Splice_Site	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr12:49436343C>T	ENST00000301067.7	-	27	5867		c.e27+1			NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GAGACACCAACCTAGAATCCA	0.582000													13	14					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394587	164394587	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr4:164394587G>T	ENST00000280605.3	-	1	460	c.300C>A	c.(298-300)aaC>aaA	p.N100K		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	100						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTTTCCTCAGGTTCAGCAAGT	0.552000													24	24					1.64293e-13	1.84329e-13	1	1	0
WHSC1L1	54904	broad.mit.edu	37	8	38146050	38146050	+	Silent	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr8:38146050C>T	ENST00000317025.8	-	19	3973	c.3456G>A	c.(3454-3456)acG>acA	p.T1152T	WHSC1L1_ENST00000433384.2_Silent_p.T1103T|WHSC1L1_ENST00000527502.1_Silent_p.T1152T	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1152	SET.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTCTCCGCTCCGTTTTGATGA	0.532000			T	NUP98	AML								16	75					0	0	1	0	0
EXD2	55218	broad.mit.edu	37	14	69704454	69704454	+	Silent	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr14:69704454C>T	ENST00000409014.1	+	10	1737	c.1080C>T	c.(1078-1080)atC>atT	p.I360I	EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Silent_p.I360I|EXD2_ENST00000409949.1_Silent_p.I360I|EXD2_ENST00000409675.1_Silent_p.I360I|EXD2_ENST00000409242.1_Silent_p.I360I|EXD2_ENST00000409018.3_Silent_p.I485I|EXD2_ENST00000312994.5_Silent_p.I485I	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	360					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						AGGCCCCCATCGGCTCTGAGG	0.632000													9	35					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5778919	5778919	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr7:5778919T>C	ENST00000425013.2	-	5	1162	c.938A>G	c.(937-939)tAt>tGt	p.Y313C	RNF216_ENST00000389902.3_Missense_Mutation_p.Y370C	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	313					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ATTCAGATCATAATAATTCTT	0.264000													40	44					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134019932	134019932	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr9:134019932C>A	ENST00000359428.5	+	12	1704	c.1560C>A	c.(1558-1560)ttC>ttA	p.F520L	RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.F520L|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.F520L|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	520	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CATCAACCTTCTCTTTTGTTC	0.557000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								74	62					7.62596e-35	9.23142e-35	1	1	0
RAPGEF1	2889	broad.mit.edu	37	9	134514093	134514093	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr9:134514093C>T	ENST00000372195.1	-	5	823	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	RAPGEF1_ENST00000372189.3_Missense_Mutation_p.V177M|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.V195M|RAPGEF1_ENST00000481260.1_5'UTR			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	177					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TCTGAGTTCACGCCTTCCAGC	0.552000													15	72					0	0	1	0	0
RBMS2	5939	broad.mit.edu	37	12	56980705	56980705	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr12:56980705C>A	ENST00000262031.5	+	10	1041	c.946C>A	c.(946-948)Cct>Act	p.P316T	RBMS2_ENST00000552247.2_Intron|RBMS2_ENST00000550726.1_Missense_Mutation_p.P191T|RBMS2_ENST00000542360.1_Missense_Mutation_p.P171T	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	316					RNA processing	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						CCTCATGCAGCCTTCAGTGAG	0.448000													23	118					2.41591e-17	2.84954e-17	1	1	0
PRG4	10216	broad.mit.edu	37	1	186276064	186276064	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:186276064G>T	ENST00000445192.2	+	7	1258	c.1213G>T	c.(1213-1215)Gca>Tca	p.A405S	PRG4_ENST00000367483.4_Missense_Mutation_p.A364S|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.A312S|PRG4_ENST00000367486.3_Missense_Mutation_p.A362S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	405	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTGCACCCACCAC	0.657000													4	139					0.00024832	0.000257655	1	1	0
FAHD2B	151313	broad.mit.edu	37	2	97757327	97757327	+	Silent	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr2:97757327C>T	ENST00000414820.1	-	3	387	c.117G>A	c.(115-117)ggG>ggA	p.G39G	FAHD2B_ENST00000468548.1_Intron|FAHD2B_ENST00000440566.2_Silent_p.G39G|FAHD2B_ENST00000272610.3_Silent_p.G39G			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	39							hydrolase activity|metal ion binding			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						CCAAGTGAGGCCCCACCAGGT	0.567000													23	100					0	0	1	0	0
DAK	26007	broad.mit.edu	37	11	61113862	61113862	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr11:61113862G>A	ENST00000394900.3	+	18	1844	c.1615G>A	c.(1615-1617)Gct>Act	p.A539T		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	539	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GAATATGGAAGCTGGAGCCGG	0.647000													38	152					0	0	1	0	0
TRGV5	6978	broad.mit.edu	37	7	38388991	38388991	+	RNA	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr7:38388991C>T	ENST00000390344.2	-	0	516																											ACCCCAGAATCATTTTCAATT	0.458000													11	9					0	0	1	0	0
EIF4A3	9775	broad.mit.edu	37	17	78111189	78111189	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr17:78111189C>T	ENST00000269349.3	-	9	1200	c.979G>A	c.(979-981)Gcc>Acc	p.A327T		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	327	Helicase C-terminal.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			ACCCACCTGGCGCCCGACCGG	0.562000													15	54					0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89574019	89574019	+	Splice_Site	SNP	G	G	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr4:89574019G>C	ENST00000402738.1	+	6	702		c.e6-1		HERC3_ENST00000407637.1_Splice_Site|HERC3_ENST00000264345.3_Splice_Site	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TGTTATTTCAGATGGCCAGTT	0.493000													6	16					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62188867	62188867	+	Silent	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr3:62188867T>C	ENST00000474889.1	+	12	1775	c.1398T>C	c.(1396-1398)tcT>tcC	p.S466S	PTPRG_ENST00000295874.10_Silent_p.S466S	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	466					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTCCTGCCTCTTCAGCCGACA	0.552000													25	100					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13700787	13700787	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr5:13700787T>C	ENST00000265104.4	-	78	13789	c.13685A>G	c.(13684-13686)gAg>gGg	p.E4562G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4562					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGGCATCAACTCAAAGAGCAC	0.418000									Kartagener syndrome				38	215					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55707926	55707926	+	Missense_Mutation	SNP	C	C	T	rs147064563		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr19:55707926C>T	ENST00000376350.3	-	10	2243	c.2221G>A	c.(2221-2223)Gtg>Atg	p.V741M	PTPRH_ENST00000263434.5_Missense_Mutation_p.V563M|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	741	Fibronectin type-III 8.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GAGTGAGACACGACCTTCATT	0.617000													21	80					0	0	1	0	0
SSSCA1	10534	broad.mit.edu	37	11	65339025	65339025	+	Silent	SNP	T	T	G			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr11:65339025T>G	ENST00000531405.1	+	3	545	c.309T>G	c.(307-309)gcT>gcG	p.A103A	SSSCA1_ENST00000526877.1_3'UTR|SSSCA1_ENST00000527920.1_Intron|SSSCA1_ENST00000309328.3_Silent_p.A140A			O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	140					cell division|mitosis		protein binding			kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						GGCCACCTGCTCCTGCTGTGC	0.647000													31	109					0	0	1	0	0
OR6B3	150681	broad.mit.edu	37	2	240984729	240984729	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr2:240984729G>A	ENST00000319423.4	-	1	760	c.761C>T	c.(760-762)gCc>gTc	p.A254V		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GAAAAGCAAGGCTGTATAGAA	0.572000													18	47					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132925	91132925	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chrX:91132925T>G	ENST00000373094.1	+	2	2531	c.1686T>G	c.(1684-1686)gaT>gaG	p.D562E	PCDH11X_ENST00000298274.8_Missense_Mutation_p.D562E|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D562E|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D562E|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D562E|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D562E|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D562E|PCDH11X_ENST00000504220.1_Missense_Mutation_p.D562E|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D562E	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	562	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCATTATTGATCAGAATGACA	0.378000													19	28					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1																						GCTGCCACATAAGTTGTCCTT	0.303000													7	15					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99017671	99017671	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr13:99017671C>T	ENST00000376586.2	+	4	635	c.299C>T	c.(298-300)cCc>cTc	p.P100L	FARP1_ENST00000595437.1_Missense_Mutation_p.P100L|FARP1_ENST00000319562.6_Missense_Mutation_p.P100L			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	100	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTCCTAAAACCCATTGTGAAA	0.368000													29	58					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58610459	58610459	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr16:58610459T>C	ENST00000317147.5	-	14	1944	c.1612A>G	c.(1612-1614)Atc>Gtc	p.I538V	CNOT1_ENST00000569240.1_Missense_Mutation_p.I538V|CNOT1_ENST00000441024.2_Missense_Mutation_p.I538V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	538					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)		GCATGCATGATAAGTTGGCGA	0.423000													10	61					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42788812	42788812	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr3:42788812C>G	ENST00000310232.6	-	6	740	c.657G>C	c.(655-657)ttG>ttC	p.L219F		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	219										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CACTCATCTTCAAGTTGGTGG	0.557000													11	45					0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69971036	69971036	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr16:69971036G>A	ENST00000359154.2	+	20	2234	c.2133G>A	c.(2131-2133)tgG>tgA	p.W711*	WWP2_ENST00000542271.1_Nonsense_Mutation_p.W595*|WWP2_ENST00000356003.2_Nonsense_Mutation_p.W711*|WWP2_ENST00000568684.1_Nonsense_Mutation_p.W272*|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Nonsense_Mutation_p.W711*	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	711	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGACTGACTGGCGTTTCACCC	0.637000													13	34					0	0	1	0	0
BRS3	680	broad.mit.edu	37	X	135570640	135570640	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chrX:135570640C>T	ENST00000370648.3	+	1	595	c.367C>T	c.(367-369)Ctc>Ttc	p.L123F		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	123					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TTGTAAGGTGCTCTCTTTCAT	0.448000													26	36					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102516424	102516424	+	RNA	SNP	G	G	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr15:102516424G>T	ENST00000557932.1	+	0	1372																		p.P449P(4)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGCCGCCACCGCAGCAGCCAC	0.647000													6	74					0.000157383	0.000164537	1	1	0
AKAP5	9495	broad.mit.edu	37	14	64935239	64935239	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr14:64935239G>A	ENST00000320636.5	+	1	1415	c.127G>A	c.(127-129)Gca>Aca	p.A43T	ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000394718.3_Missense_Mutation_p.A43T			P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	43	Essential to the intracellular anchoring function (By similarity).				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		AAGAAAGAAAGCAGCCAAAGC	0.502000													21	47					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (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.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		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)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			9	32					0	0	1	0	0
EXOC5	10640	broad.mit.edu	37	14	57689026	57689026	+	Splice_Site	SNP	C	C	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr14:57689026C>A	ENST00000413566.2	-	13	1764	c.1405_splice	c.e13+1	p.G469_splice	EXOC5_ENST00000340918.7_Splice_Site_p.G404_splice	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	469					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						ATATACTTACCAGCAAGTCCT	0.323000													14	28					0.00244969	0.00246758	1	1	0
AKAP9	10142	broad.mit.edu	37	7	91714839	91714839	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr7:91714839A>T	ENST00000359028.2	+	36	9100	c.8875A>T	c.(8875-8877)Atg>Ttg	p.M2959L	AKAP9_ENST00000356239.3_Missense_Mutation_p.M2955L|AKAP9_ENST00000358100.2_Missense_Mutation_p.M2905L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2959					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAATGAAGGCATGCAGGTGCT	0.423000			T	BRAF	papillary thyroid								16	58					0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053622	11053622	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr2:11053622T>A	ENST00000295082.1	+	1	1560	c.1070T>A	c.(1069-1071)aTc>aAc	p.I357N		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	357						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TTTAAGAGCATCCCCCAGTCC	0.602000													13	42					0	0	1	0	0
NSUN6	221078	broad.mit.edu	37	10	18931445	18931445	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr10:18931445C>G	ENST00000377304.4	-	3	689	c.271G>C	c.(271-273)Gac>Cac	p.D91H	RP11-139J15.7_ENST00000606425.1_Missense_Mutation_p.D79H	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	91							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TCTTGAAGGTCTGGATGTTGA	0.313000													27	81					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32064720	32064720	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr6:32064720C>T	ENST00000375244.3	-	3	1111	c.910G>A	c.(910-912)Gag>Aag	p.E304K	TNXB_ENST00000375247.2_Missense_Mutation_p.E304K|TNXB_ENST00000479795.1_Missense_Mutation_p.E304K			P22105	TENX_HUMAN	tenascin XB	304	EGF-like 5.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCACAGTCCTCGCCAGTGTAG	0.682000													9	41					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22242681	22242681	+	Silent	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr11:22242681C>T	ENST00000324559.8	+	5	536	c.219C>T	c.(217-219)ttC>ttT	p.F73F		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	73						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTATCTTCTTCCGAGATGGGA	0.358000													9	9					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728017	20728017	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr19:20728017T>C	ENST00000427401.4	-	4	1086	c.992A>G	c.(991-993)cAt>cGt	p.H331R		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	331					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AATTCTTTTATGTGTAGTAAG	0.393000													20	27					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176838147	176838147	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:176838147G>C	ENST00000367654.2	-	22	3517	c.3504C>G	c.(3502-3504)atC>atG	p.I1168M	ASTN1_ENST00000424564.2_Missense_Mutation_p.I1160M|ASTN1_ENST00000361833.2_Missense_Mutation_p.I1160M|ASTN1_ENST00000367657.3_Missense_Mutation_p.I1160M			O14525	ASTN1_HUMAN	astrotactin 1	1168					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGAGATTGTAGATCTTGTCTG	0.403000													7	67					0	0	1	0	0
SLC22A18	5002	broad.mit.edu	37	11	2946328	2946328	+	Silent	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr11:2946328C>T	ENST00000380574.1	+	11	1607	c.1176C>T	c.(1174-1176)ggC>ggT	p.G392G	SLC22A18_ENST00000312221.5_Silent_p.G392G|SLC22A18_ENST00000347936.2_Silent_p.G392G|SLC22A18_ENST00000449793.2_Silent_p.G294G|SLC22A18_ENST00000441077.1_3'UTR			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	392					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCAGCTTTGGCGTCCCCGTCT	0.627000													14	114					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262811	140262811	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr5:140262811G>A	ENST00000289272.2	+	1	958	c.958G>A	c.(958-960)Gtg>Atg	p.V320M	PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.V320M|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAATATCCGTGGAGGCAGT	0.398000													21	77					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	rs11540654		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr17:7579358C>A	ENST00000420246.2	-	4	461	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000269305.4_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAAGCCCAGACGGAAACCGTA	0.612000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			34	47					1.45844e-13	1.64971e-13	1	1	0
ZRANB2	9406	broad.mit.edu	37	1	71536551	71536551	+	Silent	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:71536551T>C	ENST00000370920.3	-	7	943	c.642A>G	c.(640-642)tcA>tcG	p.S214S	ZRANB2_ENST00000254821.6_Silent_p.S214S	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	214	Arg/Ser-rich.|Required for nuclear targeting.				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						ATGAGCGTGATGAAGATCGTG	0.393000													30	84					0	0	1	0	0
NUP133	55746	broad.mit.edu	37	1	229588313	229588313	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:229588313G>T	ENST00000261396.3	-	22	3149	c.3058C>A	c.(3058-3060)Ctc>Atc	p.L1020I	NUP133_ENST00000366679.1_Missense_Mutation_p.L949I|NUP133_ENST00000537506.1_Missense_Mutation_p.L1004I	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1020					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ATCGCACTGAGATTTAGCTGT	0.448000													17	58					3.32936e-07	3.61773e-07	1	1	0
MUC4	4585	broad.mit.edu	37	3	195508187	195508187	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr3:195508187C>T	ENST00000463781.3	-	2	10723	c.10264G>A	c.(10264-10266)Gcc>Acc	p.A3422T	MUC4_ENST00000475231.1_Missense_Mutation_p.A3422T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	190					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGCGTGACCTGTG	0.582000													3	4					0	0	1	0	0
AKAP5	9495	broad.mit.edu	37	14	64935240	64935240	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr14:64935240C>A	ENST00000320636.5	+	1	1416	c.128C>A	c.(127-129)gCa>gAa	p.A43E	ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000394718.3_Missense_Mutation_p.A43E			P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	43	Essential to the intracellular anchoring function (By similarity).				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		AGAAAGAAAGCAGCCAAAGCA	0.507000													21	50					1.96292e-10	2.16707e-10	1	1	0
PPHLN1	51535	broad.mit.edu	37	12	42745769	42745769	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr12:42745769A>T	ENST00000395568.2	+	3	239	c.155A>T	c.(154-156)tAt>tTt	p.Y52F	PPHLN1_ENST00000395580.3_Missense_Mutation_p.Y59F|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000552761.1_Intron|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000432191.2_Intron|PPHLN1_ENST00000337898.6_Intron|PPHLN1_ENST00000449194.2_Missense_Mutation_p.Y52F|PPHLN1_ENST00000358314.7_Missense_Mutation_p.Y52F|PPHLN1_ENST00000549190.1_Missense_Mutation_p.Y70F	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	52					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TACAATAGATATTACAGTCAT	0.423000													48	37					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158746644	158746644	+	Missense_Mutation	SNP	C	C	T	rs141853976		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:158746644C>T	ENST00000339258.1	-	1	781	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R261Q(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CTTCTTTAGCCGCACATACAT	0.433000													13	44					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34105109	34105109	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr15:34105109G>A	ENST00000389232.4	+	73	10373	c.10303G>A	c.(10303-10305)Gtt>Att	p.V3435I	RYR3_ENST00000415757.3_Missense_Mutation_p.V3430I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3435					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTACAAGGATGTTCTGAAGAG	0.433000													11	33					0	0	1	0	0
DMRTA1	63951	broad.mit.edu	37	9	22447696	22447696	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr9:22447696A>C	ENST00000325870.1	+	1	857	c.632A>C	c.(631-633)gAa>gCa	p.E211A		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	211					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		CCCGCTTTCGAAGTTTTCCAG	0.542000													34	43					0	0	1	0	0
CRADD	8738	broad.mit.edu	37	12	94072588	94072588	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr12:94072588G>A	ENST00000542893.2	+	2	356	c.38G>A	c.(37-39)cGc>cAc	p.R13H	CRADD_ENST00000548483.1_Missense_Mutation_p.R13H|CRADD_ENST00000552033.1_Missense_Mutation_p.R13H|CRADD_ENST00000332896.3_Missense_Mutation_p.R13H|CRADD_ENST00000541813.1_Missense_Mutation_p.R13H|CRADD_ENST00000552983.1_Missense_Mutation_p.R13H			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	13	CARD.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						CGCTCACTTCGCCTGGAGCTG	0.473000													36	34					0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137801607	137801607	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr5:137801607G>C	ENST00000239938.4	+	1	429	c.157G>C	c.(157-159)Ggg>Cgg	p.G53R		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	53					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGGCGCCGCCGGGGCCCCAGA	0.682000													19	47					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75431091	75431091	+	Silent	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr9:75431091C>T	ENST00000297784.5	+	19	2268	c.1728C>T	c.(1726-1728)aaC>aaT	p.N576N	TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Silent_p.N576N|TMC1_ENST00000396237.3_Silent_p.N576N	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	576					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TCAGTGGCAACGTCCTCGCTC	0.458000													24	78					0	0	1	0	0
STAT5B	6777	broad.mit.edu	37	17	40376881	40376881	+	Silent	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr17:40376881C>T	ENST00000293328.3	-	4	459	c.291G>A	c.(289-291)acG>acA	p.T97T		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	97					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	AGCGGTCATACGTGTTCTGAA	0.542000													5	49					0	0	1	0	0
CIDEC	63924	broad.mit.edu	37	3	9911929	9911929	+	Silent	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr3:9911929T>C	ENST00000336832.2	-	4	424	c.285A>G	c.(283-285)gaA>gaG	p.E95E	CIDEC_ENST00000423850.1_Silent_p.E21E|CIDEC_ENST00000455015.1_Silent_p.E21E|CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000430427.1_Silent_p.E105E	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	95	CIDE-N.				apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					GGAAGTACTCTTCTGTCTCTA	0.562000													5	58					0	0	1	0	0
ACO1	48	broad.mit.edu	37	9	32436283	32436283	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr9:32436283G>A	ENST00000379923.1	+	19	2341	c.2135G>A	c.(2134-2136)cGc>cAc	p.R712H	ACO1_ENST00000541043.1_Missense_Mutation_p.R613H|ACO1_ENST00000309951.5_Missense_Mutation_p.R712H	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	712					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TATGGCTCCCGCCGAGGTAAT	0.478000													28	91					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077090	9077090	+	Silent	SNP	G	G	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr19:9077090G>T	ENST00000397910.4	-	3	10559	c.10356C>A	c.(10354-10356)atC>atA	p.I3452I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3453	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGGAGGTGATGTATAATG	0.483000													11	42					0.000673444	0.000688409	1	1	0
CAPN9	10753	broad.mit.edu	37	1	230933952	230933952	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:230933952C>G	ENST00000354537.1	+	18	2036	c.1954C>G	c.(1954-1956)Ctc>Gtc	p.L652V	CAPN9_ENST00000271971.2_Missense_Mutation_p.L678V|CAPN9_ENST00000366666.2_Missense_Mutation_p.L615V|CAPN9_ENST00000480004.1_Intron	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	678	Domain IV.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GTTCATTCATCTCAATATAAA	0.483000											OREG0014318	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	125					0	0	1	0	0
EXOC5	10640	broad.mit.edu	37	14	57689025	57689025	+	Splice_Site	SNP	C	C	G			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr14:57689025C>G	ENST00000413566.2	-	13	1765		c.e13+1		EXOC5_ENST00000340918.7_Splice_Site	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5						exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						AATATACTTACCAGCAAGTCC	0.323000													12	31					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1																						AGCTGCCACATAAGTTGTCCT	0.299000													7	15					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659675	24659675	+	RNA	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr22:24659675G>A	ENST00000414583.2	+	0	3200					NR_003714.1																						ATGCCTCGGCGCTCGATCTCC	0.622000													5	39					0	0	1	0	0
NXF1	10482	broad.mit.edu	37	11	62564003	62564003	+	Silent	SNP	C	C	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr11:62564003C>A	ENST00000532297.1	-	15	1844	c.1215G>T	c.(1213-1215)ggG>ggT	p.G405G	NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Silent_p.G405G			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	405	NTF2.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATCCAGGAGCCCTTGTCGGT	0.507000													17	87					7.07596e-05	7.56963e-05	1	1	0
SUV420H1	51111	broad.mit.edu	37	11	67939092	67939092	+	Silent	SNP	T	T	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr11:67939092T>A	ENST00000304363.4	-	7	1091	c.738A>T	c.(736-738)ggA>ggT	p.G246G	SUV420H1_ENST00000405515.1_Silent_p.G246G|SUV420H1_ENST00000402789.1_Silent_p.G246G|SUV420H1_ENST00000402185.2_Silent_p.G223G|SUV420H1_ENST00000401547.2_Silent_p.G246G	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	246	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AGTCGTTTTCTCCATGTCTAA	0.403000													22	52					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77473569	77473569	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr15:77473569C>T	ENST00000560626.2	-	4	1175	c.700G>A	c.(700-702)Gag>Aag	p.E234K	PEAK1_ENST00000312493.4_Missense_Mutation_p.E234K|PEAK1_ENST00000558305.1_Missense_Mutation_p.E234K			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	234					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TCACTCTCCTCGCCACTGGAA	0.488000													18	98					0	0	1	0	0
ZBTB48	3104	broad.mit.edu	37	1	6648389	6648389	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:6648389G>A	ENST00000377674.4	+	9	1726	c.1568G>A	c.(1567-1569)tGc>tAc	p.C523Y		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	523						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		CCCTTCAGTTGCGAGTTCTGT	0.647000													14	45					0	0	1	0	0
NDUFS2	4720	broad.mit.edu	37	1	161172205	161172205	+	Silent	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:161172205C>T	ENST00000392179.4	+	1	269	c.30C>T	c.(28-30)ttC>ttT	p.F10F	NDUFS2_ENST00000367993.3_Silent_p.F10F|NDUFS2_ENST00000476409.2_5'UTR	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	10					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	TGTGCGGCTTCCGGGGCGTCG	0.657000													4	5					0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168054849	168054849	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:168054849C>T	ENST00000367838.1	-	8	1823	c.1510G>A	c.(1510-1512)Ggc>Agc	p.G504S	GPR161_ENST00000271357.5_Missense_Mutation_p.G504S|GPR161_ENST00000546300.1_Missense_Mutation_p.G390S|GPR161_ENST00000367836.1_Missense_Mutation_p.G372S|GPR161_ENST00000537209.1_Missense_Mutation_p.G524S|GPR161_ENST00000539777.1_Missense_Mutation_p.G426S|GPR161_ENST00000367835.1_Missense_Mutation_p.G504S|GPR161_ENST00000361697.2_Missense_Mutation_p.G504S	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	504					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GTTCTGCTGCCTCGGCGGCCC	0.607000													4	150					0	0	1	0	0
MARCH1	55016	broad.mit.edu	37	4	164466832	164466832	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr4:164466832C>T	ENST00000503008.1	-	7	1463	c.487G>A	c.(487-489)Gta>Ata	p.V163I	MARCH1_ENST00000514618.1_Missense_Mutation_p.V419I|MARCH1_ENST00000339875.5_Missense_Mutation_p.V146I|MARCH1_ENST00000274056.7_Missense_Mutation_p.V163I	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	163					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATCGCGATTACGTGGAATGTG	0.428000													10	103					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	rs71828885		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577000													4	34					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64136451	64136451	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr10:64136451C>T	ENST00000395254.3	+	2	779	c.499C>T	c.(499-501)Cga>Tga	p.R167*	ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000395255.3_Nonsense_Mutation_p.R167*|ZNF365_ENST00000410046.3_Nonsense_Mutation_p.R167*	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AAAATTCAATCGAATGGTTGA	0.512000													20	62					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32873418	32873418	+	Silent	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr19:32873418G>A	ENST00000311921.3	+	5	2598	c.2406G>A	c.(2404-2406)aaG>aaA	p.K802K	ZNF507_ENST00000544431.1_Silent_p.K806K|ZNF507_ENST00000355898.5_Silent_p.K802K	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	802					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CTTCTTTGAAGTCTCATATGT	0.433000													35	160					0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95846874	95846874	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr2:95846874G>T	ENST00000398107.2	+	4	697	c.175G>T	c.(175-177)Gat>Tat	p.D59Y	ZNF2_ENST00000340539.5_Missense_Mutation_p.D101Y|ZNF2_ENST00000425369.1_Missense_Mutation_p.D21Y|ZNF2_ENST00000453539.2_Missense_Mutation_p.D114Y|ZNF2_ENST00000295210.6_Missense_Mutation_p.D63Y	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	101	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		TGAGATTCACGATGCTTCAGA	0.418000													18	73					1.67942e-08	1.83936e-08	1	1	0
SORT1	6272	broad.mit.edu	37	1	109884667	109884667	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:109884667G>T	ENST00000256637.6	-	9	1135	c.1077C>A	c.(1075-1077)gaC>gaA	p.D359E	SORT1_ENST00000538502.1_Missense_Mutation_p.D222E	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	359					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TGAATACCATGTCATCATTTG	0.448000													24	96					6.32553e-13	7.0397e-13	1	1	0
FLG	2312	broad.mit.edu	37	1	152284021	152284021	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:152284021G>T	ENST00000368799.1	-	3	3376	c.3341C>A	c.(3340-3342)tCa>tAa	p.S1114*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1114	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAAGACCCTGAACGTCCAGA	0.587000									Ichthyosis				7	427					0.000274275	0.000282462	1	1	0
GPR25	2848	broad.mit.edu	37	1	200843200	200843200	+	Silent	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:200843200C>T	ENST00000304244.2	+	1	1118	c.1035C>T	c.(1033-1035)tcC>tcT	p.S345S		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	345						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						ACGACAGTTCCGTGTTCCGTT	0.736000													3	9					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4944525	4944525	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr16:4944525G>A	ENST00000345988.2	-	12	1426	c.1337C>T	c.(1336-1338)cCg>cTg	p.P446L	PPL_ENST00000590782.2_Missense_Mutation_p.P444L	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	446					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACACACGGCCGGAGCAATCAG	0.632000													4	74					0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27077014	27077014	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr11:27077014G>T	ENST00000263182.3	+	3	405	c.37G>T	c.(37-39)Ggg>Tgg	p.G13W	BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000528583.1_Missense_Mutation_p.G13W|BBOX1_ENST00000525090.1_Missense_Mutation_p.G13W|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.G13W	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	13					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	AGCACTTGACGGGGCTCATTT	0.478000													6	49					0.00116845	0.00118563	1	1	0
UGT2B11	10720	broad.mit.edu	37	4	70078323	70078323	+	Missense_Mutation	SNP	A	A	G	rs143777219	by1000genomes	TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr4:70078323A>G	ENST00000446444.1	-	2	846	c.838T>C	c.(838-840)Ttc>Ctc	p.F280L	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	280					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTGCAGTGGAATCCTCCAACA	0.378000													5	164					0	0	1	0	0
LMLN	89782	broad.mit.edu	37	3	197751536	197751536	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr3:197751536T>A	ENST00000330198.4	+	14	1555	c.1533T>A	c.(1531-1533)ttT>ttA	p.F511L	LMLN_ENST00000420910.2_Missense_Mutation_p.F548L|LMLN_ENST00000482695.1_Missense_Mutation_p.F496L|LMLN_ENST00000332636.5_Missense_Mutation_p.F459L	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	511					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CAGAAATTTTTAAGAACTATG	0.363000													16	92					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34105144	34105144	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr15:34105144G>T	ENST00000389232.4	+	73	10408	c.10338G>T	c.(10336-10338)aaG>aaT	p.K3446N	RYR3_ENST00000415757.3_Missense_Mutation_p.K3441N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3446					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCCGGAAAAGACAGTGGAGC	0.483000													11	50					1.58986e-06	1.71407e-06	1	1	0
UBE2M	9040	broad.mit.edu	37	19	59068489	59068489	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr19:59068489T>C	ENST00000253023.3	-	2	723	c.145A>G	c.(145-147)Atc>Gtc	p.I49V		NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	49	Interaction with UBA3.				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GAGAAGCTGATATCACACGTC	0.532000													43	119					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690462	33690462	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr17:33690462T>A	ENST00000394566.1	-	4	637	c.365A>T	c.(364-366)aAg>aTg	p.K122M	SLFN11_ENST00000308377.4_Missense_Mutation_p.K122M	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	122						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGGCGGGGCTTGACAGAGCG	0.468000													8	64					0	0	1	0	0
HERC2P2	400322	broad.mit.edu	37	15	23299984	23299984	+	RNA	SNP	G	G	A	rs429570		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr15:23299984G>A	ENST00000560464.1	-	0	4303																											TTCCTTCTGGGAAATCCCATC	0.582000													3	36					0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220364615	220364615	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:220364615C>T	ENST00000358951.2	-	14	1398	c.1282G>A	c.(1282-1284)Gca>Aca	p.A428T		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	428					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	p.A428T(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCAATTTGTGCGTCGCGGTAC	0.468000													6	21					0	0	1	0	0
FLCN	201163	broad.mit.edu	37	17	17127338	17127338	+	Silent	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr17:17127338G>A	ENST00000285071.4	-	6	970	c.516C>T	c.(514-516)atC>atT	p.I172I	RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000389169.5_Silent_p.I172I	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	172					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGATGGTGATGATGCTGTACC	0.582000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				26	28					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142478865	142478865	+	RNA	SNP	T	T	C	rs139176741	by1000genomes	TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr7:142478865T>C	ENST00000603901.1	+	0	26					NR_001296.3																						ATCCTTGCCTTTGTGGGAGCT	0.567000													3	47					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404628	10404628	+	Silent	SNP	G	G	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr17:10404628G>A	ENST00000226207.5	-	27	3631	c.3537C>T	c.(3535-3537)cgC>cgT	p.R1179R	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1179						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCAGGTCCCTGCGCATTTTCT	0.597000													18	127					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97916721	97916721	+	RNA	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr10:97916721C>T	ENST00000534948.1	+	0	1499							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AGTGTAAGTTCTCCACCCAGG	0.333000													20	128					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62747261	62747261	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr11:62747261C>T	ENST00000377871.3	-	7	1463	c.1197G>A	c.(1195-1197)atG>atA	p.M399I	SLC22A6_ENST00000421062.2_Missense_Mutation_p.M399I|SLC22A6_ENST00000360421.4_Missense_Mutation_p.M399I|SLC22A6_ENST00000458333.2_Missense_Mutation_p.M399I	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	399					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCAGTGCAGCCATCTGGGCAG	0.612000													5	67					0	0	1	0	0
MT-CO1	4512	broad.mit.edu	37	MT	6559	6559	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chrM:6559T>C	ENST00000361624.2	+	1	656	c.656T>C	c.(655-657)tTc>tCc	p.219_219insS						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CAACACCACCTTCTTCGACCC	0.498000													11	1					0	0	1	0	0
METTL5	29081	broad.mit.edu	37	2	170672002	170672002	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr2:170672002T>C	ENST00000410097.1	-	6	661	c.526A>G	c.(526-528)Ata>Gta	p.I176V	METTL5_ENST00000409340.1_Missense_Mutation_p.I77V|METTL5_ENST00000308099.3_Intron|METTL5_ENST00000260953.5_Missense_Mutation_p.I176V|METTL5_ENST00000392640.2_Missense_Mutation_p.I176V|METTL5_ENST00000409965.1_Missense_Mutation_p.I176V|METTL5_ENST00000409837.1_Missense_Mutation_p.I176V			Q9NRN9	METL5_HUMAN	methyltransferase like 5	176							methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						ATAATATCTATCTTGATTTTC	0.308000													6	31					0	0	1	0	0
MTMR10	54893	broad.mit.edu	37	15	31233736	31233736	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr15:31233736T>A	ENST00000435680.1	-	16	2368	c.2271A>T	c.(2269-2271)ttA>ttT	p.L757F	FAN1_ENST00000362065.4_Intron|MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000314404.8_Intron	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	757							phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		AAAATTTGCTTAATGGTGTTC	0.433000													6	10					0	0	1	0	0
DVL1	1855	broad.mit.edu	37	1	1275150	1275150	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:1275150C>T	ENST00000378888.5	-	9	1236	c.952G>A	c.(952-954)Gtg>Atg	p.V318M	DVL1_ENST00000378891.5_Missense_Mutation_p.V318M			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	318	PDZ.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGCACCCGCACGGCATCGTCA	0.657000													11	42					0	0	1	0	0
OR1J1	347168	broad.mit.edu	37	9	125239841	125239841	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr9:125239841C>T	ENST00000259357.2	-	1	394	c.365G>A	c.(364-366)aGg>aAg	p.R122K		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GGCCACATACCTGTCATATGC	0.453000													4	69					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160481709	160481709	+	Silent	SNP	G	G	T			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr6:160481709G>T	ENST00000356956.1	+	23	3370	c.3222G>T	c.(3220-3222)gcG>gcT	p.A1074A		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1074					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TTGAAACCGCGTTGGCCTGTG	0.517000													28	73					1.88708e-17	2.24498e-17	1	1	0
DOCK1	1793	broad.mit.edu	37	10	128822972	128822972	+	Silent	SNP	T	T	C			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr10:128822972T>C	ENST00000280333.6	+	15	1522	c.1413T>C	c.(1411-1413)ggT>ggC	p.G471G	RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.3_ENST00000599979.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000601242.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	471	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CGGGTGCTGGTGATGAAGCGA	0.393000													4	14					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55505553	55505555	+	In_Frame_Del	DEL	CTG	CTG	-	rs67610340		TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr1:55505553_55505555delCTG	ENST00000302118.5	+	1	333_335	c.43_45delCTG	c.(43-45)del	p.L23del	PCSK9_ENST00000452118.2_In_Frame_Del_p.L23del	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	23			L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia).		cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						gccgctgccactgctgctgctgc	0.709													3	6	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31983584	31983585	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr5:31983584_31983585delAA	ENST00000438447.1	+	3	1188_1189	c.800_801delAA	c.(799-801)gfs	p.E267fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.E267fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	267					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TTTCAGCTAGAAAATGGCCCAG	0.554													53	185	---	---	---	---					
PTPRD	5789	broad.mit.edu	37	9	8499758	8499758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr9:8499758delG	ENST00000381196.4	-	22	2754	c.2211delC	c.(2209-2211)ccfs	p.P737fs	PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.P724fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.P737fs|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.P724fs|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Frame_Shift_Del_p.P737fs|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	737	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCTGTTTATTGGGCACGGGTG	0.502										TSP Lung(15;0.13)			50	64	---	---	---	---					
FKBP15	23307	broad.mit.edu	37	9	115932150	115932151	+	In_Frame_Ins	INS	-	-	TTC	rs113480096	by1000genomes	TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr9:115932150_115932151insTTC	ENST00000238256.3	-	26	2955_2956	c.2838_2839insGAA	c.(2836-2841)gaaagc>gaGAAaagc	p.946_947ES>EKS		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	946					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						tcttctgctttttcttcttctt	0.525													5	4	---	---	---	---					
ACACB	32	broad.mit.edu	37	12	109604671	109604671	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr12:109604671delG	ENST00000338432.7	+	3	778	c.659delG	c.(658-660)acfs	p.S220fs	ACACB_ENST00000377854.5_Frame_Shift_Del_p.S220fs|ACACB_ENST00000377848.3_Frame_Shift_Del_p.S220fs			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	220					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGCAGGCCGAGCATGTCGGGA	0.572													25	34	---	---	---	---					
DYNLL1	8655	broad.mit.edu	37	12	120934360	120934361	+	Frame_Shift_Ins	INS	-	-	G			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr12:120934360_120934361insG	ENST00000550845.1	+	2	260_261	c.136_137insG	c.(136-138)gatfs	p.D46fs	DYNLL1_ENST00000548214.1_Frame_Shift_Ins_p.D46fs|DYNLL1_ENST00000392508.2_Intron|DYNLL1_ENST00000242577.6_Intron|DYNLL1_ENST00000552870.1_Intron|DYNLL1_ENST00000550178.1_Frame_Shift_Ins_p.D46fs|DYNLL1_ENST00000549989.1_Intron|DYNLL1_ENST00000392509.2_Intron|DYNLL1_ENST00000548342.1_Intron			P63167	DYL1_HUMAN	dynein, light chain, LC8-type 1	0					actin cytoskeleton organization|activation of pro-apoptotic gene products|anatomical structure morphogenesis|female gamete generation|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|microtubule-based process|negative regulation of phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	centrosome|cytoplasmic dynein complex|cytosol|microtubule|mitochondrion|nucleus|plasma membrane	motor activity|protein binding					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAAGAAGGTGAGGATGGGCGCG	0.599													58	83	---	---	---	---					
SRP14	6727	broad.mit.edu	37	15	40328591	40328596	+	In_Frame_Del	DEL	GGCAGG	GGCAGG	-			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr15:40328591_40328596delGGCAGG	ENST00000267884.6	-	5	420_425	c.349_354delCCTGCC	c.(349-354)del	p.PA117del	SRP14_ENST00000558720.1_In_Frame_Del_p.PA37del|SRP14_ENST00000560773.1_In_Frame_Del_p.PA37del|SRP14_ENST00000558527.1_5'UTR	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	117	Ala/Thr-rich.				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ttgctgctgcggcaggtgctgctgct	0.481													7	80	---	---	---	---					
GRAMD2	196996	broad.mit.edu	37	15	72461335	72461335	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr15:72461335delA	ENST00000309731.7	-	3	150	c.137delT	c.(136-138)cgfs	p.L46fs		NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	46						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TGGCCAGTGCAGACTGCAAAG	0.542													22	68	---	---	---	---					
RAI1	10743	broad.mit.edu	37	17	17701398	17701398	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr17:17701398delC	ENST00000353383.1	+	3	5605	c.5136delC	c.(5134-5136)ctfs	p.L1712fs	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1712						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AACACTGCCTCCCCAAAAAGA	0.577													23	95	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35614739	35614739	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr17:35614739delT	ENST00000353139.5	-	14	2193	c.1712delA	c.(1711-1713)atfs	p.N571fs	ACACA_ENST00000360679.3_Frame_Shift_Del_p.N476fs|ACACA_ENST00000394406.2_Frame_Shift_Del_p.N534fs|ACACA_ENST00000335166.5_Frame_Shift_Del_p.N456fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	534	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AACATTCTTATTGCTGCGGAA	0.418													19	114	---	---	---	---					
TSEN34	79042	broad.mit.edu	37	19	54696135	54696136	+	Frame_Shift_Ins	INS	-	-	GCTA			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chr19:54696135_54696136insGCTA	ENST00000396383.1	+	4	967_968	c.656_657insGCTA	c.(655-657)ccgfs	p.P219fs	TSEN34_ENST00000429671.2_Frame_Shift_Ins_p.P219fs|TSEN34_ENST00000302937.4_Frame_Shift_Ins_p.P219fs|TSEN34_ENST00000396388.2_Frame_Shift_Ins_p.P219fs			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	219					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCACGAGCTGCGCTACAGTA	0.639													25	82	---	---	---	---					
KDM5C	8242	broad.mit.edu	37	X	53227702	53227703	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-QK-AA3K-01A-11D-A391-08	TCGA-QK-AA3K-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b794eb4b-1c54-4989-88ed-28df2bd05b16	756ee1e0-9adb-4510-9f4d-e4de76961875	g.chrX:53227702_53227703delGC	ENST00000452825.3	-	15	2816_2817	c.2284_2285delGC	c.(2284-2286)tfs	p.A762fs	KDM5C_ENST00000404049.3_Frame_Shift_Del_p.A828fs|KDM5C_ENST00000375383.3_Frame_Shift_Del_p.A788fs|KDM5C_ENST00000375401.3_Frame_Shift_Del_p.A829fs|KDM5C_ENST00000375379.3_Frame_Shift_Del_p.A829fs	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	829					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CAGTCCCAGAGCTCGGGACACG	0.569			"""N, F, S"""		clear cell renal carcinoma								4	6	---	---	---	---					
